The authors have declared that no competing interests exist.
Signal Transducer and Activator of Transcription 4 (
The JASPAR CORE and ConSite databases were instrumental in identifying the TFBS. The Vector NTI Advance 11.5 computer program was employed in locating all theTFBS in the
The
The alleles of each rSNP were found to generate unique TFBS resulting in potential changes in TF
The Janus Kinase-Signal Transducers and Activators of Transcription (JAK-STAT) pathways play a critical role in immune, neuronal, hematopoietic and hepatic systems
The
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Behcet's | rs7574070 | 191145762 | A/C | C=0.47 | Yes | Chinese | 7 | |
rs7572482 | 191150346 | A/G | A=0.47 | Yes | ||||
Diabetes | rs11889341 | 191079016 | C/T | T=0.34 | Yes | Asian, Caucasian | 11 | |
rs7574865 | 191099907 | G/T | T=0.25 | Yes | ||||
rs8179673 | 191104615 | T/C | C=0.26 | Yes | ||||
rs10181656 | 191105153 | C/G | G=0.26 | Yes | ||||
Hepatitis B virus-related hepatocellular carcinoma | rs7574865 | 191099907 | G/T | T=0.25 | G | Chinese | 6 | |
HBV infection, HBV-related cirrgisus and hepatocellular carcinoma | rs7574865 rs7582694 rs11889341 rs8179673 | 191099907 191105394 191079016 191104615 | G/T G/C C/T T/C | T=0.25 C=0.33 T=0.34 C=0.26 | G G C T | Yes Yes Yes Yes | ||
Chinese | 10 | |||||||
HBV viral clearance | rs7574865 | 191099907 | G/T | T=0.25 | G | Tibetan, Uygur | 19 | |
Hepatocellular carcinoma | rs7574865 | 191099907 | G/T | T=0.25 | G | Korean | 20 | |
Inflammatiory bowel disease | rs7574865 | 191099907 | G/T | T=0.25 | G | Chinese, Causcians | 21 | |
Juvenil Idiopathic arthritis | rs7574865 | 191099907 | G/T | T=0.25 | T | Han Chinese | 22 | |
Primary biliary cirrhosis and Crohn's disease | rs7574865 | 191099907 | G/T | T=0.25 | T | Japanese | 23 | |
Severe renal insufficiency in lupus nephritis | rs11889341 rs7574865 rs7568275 rs7582694 | 191079016 191099907 191101726 191105394 | C/T G/T C/G G/C | T=0.28 T=0.23 G=0.28 C=0.22 | Yes Yes Yes Yes | Swedish | 8 | |
Systemic Lupus Erythematosus | rs11889341 rs7574865 rs8179673 rs10181656 | 191079016 191099907 191104615 191105153 | C/T G/T T/C C/G | T=0.28 T=0.23 C=0.26 G=0.26 | Yes Yes Yes Yes | European descent | 5 | |
Ulcerative colitis | rs7574865 | 191099907 | G/T | T=0.25 | T | European descent | 24 |
Single nucleotide changes that affect gene expression by impacting gene regulatory sequences such as promoters, enhances, and silencers are known as regulatory SNPs (rSNPs)
The JASPAR CORE database
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
rs7574865 | G | EN1 | Engrailed homeobox 1 | 1 | gaatagtggtt | plus | |||||||||||||||
g=20% | |||||||||||||||||||||
FOXA1 | Forkhead box A1 | 1 | ccacTaTTcaCattt | minus | |||||||||||||||||
c=0% | |||||||||||||||||||||
FOXA2 | Forkhead box A2 | 1 | TaTTcACatttt | minus | |||||||||||||||||
c=0.1% | |||||||||||||||||||||
FOXL1 | Forkhead box L1 | 8 | tgtgaATA | plus | |||||||||||||||||
g=17% | |||||||||||||||||||||
HLTF | Helicase-like transcription factor | 1 | tcaCaTtttg | minus | |||||||||||||||||
c=20% | |||||||||||||||||||||
MAX | MYC Associated Factor X | 3 | attCACaTtt | minus | |||||||||||||||||
C=100% | |||||||||||||||||||||
RUNX2 | Runt-related transcription factor 2 | 1 | gtgaataGTGGttat | plus | |||||||||||||||||
g=40% | |||||||||||||||||||||
SOX17 | SRY (sex determining region Y)-box 17 | 2 | cacATTtTg | minus | |||||||||||||||||
c=29% | |||||||||||||||||||||
ZNF354C | Zinc finger protein 354C | 81 | attCAC | minus | |||||||||||||||||
C=100% | |||||||||||||||||||||
T | ARID3A | AT rich interactive domain 3A | 81 | ATtAAc | minus | ||||||||||||||||
0.25 | (BRIGHT-like) | A=100% | |||||||||||||||||||
EN1 | Engrailed homeobox 1 | 1 | taatagtggtt | plus | |||||||||||||||||
t=30% | |||||||||||||||||||||
FOXA1 | Forkhead box A1 | 1 | ccacTaTTaaCattt | minus | |||||||||||||||||
a=0% | |||||||||||||||||||||
HLTF | Helicase-like transcription factor | 1 | taaCaTtttg | minus | |||||||||||||||||
a=34% | |||||||||||||||||||||
NKX2-5 | Natural killer 3 homeobox 2 | 23 | ttAAtag | plus | |||||||||||||||||
t=76% | |||||||||||||||||||||
NR1HE: RXRa | Nuclear Receptor Subfamily 1, Group H, Member 3 | 1 | TaaccactatTaacatttt | minus | |||||||||||||||||
Retinoid X receptor, alpha | a=44% | ||||||||||||||||||||
PDX1 | Pancreatic and duodenal homeobox 1 | 158 | tTAATa | plus | |||||||||||||||||
T=100% | |||||||||||||||||||||
PRRX2 | Paired related homeobox 2 | 518 | tATTA | minus | |||||||||||||||||
A=98% | |||||||||||||||||||||
RUNX2 | Runt-related transcription factor 2 | 1 | gttaataGTGGttat | plus | |||||||||||||||||
t=38% | |||||||||||||||||||||
SOX5 | SRY (sex determining region Y)-box 5 | 42 | AaTGTTa | plus | |||||||||||||||||
T=91% | |||||||||||||||||||||
SOX17 | SRY (sex determining region Y)-box 17 | 4 | aacATTtTg | minus | |||||||||||||||||
a=23% | |||||||||||||||||||||
SRY | Sex determining region Y | 4 | attaACAtt | minus | |||||||||||||||||
a=64% | |||||||||||||||||||||
rs11889341 | C | AR | Androgen Receptor | 1 | aaGaAtAagatGttc | minus | |||||||||||||||
G=100% | |||||||||||||||||||||
CEBPb | CCAAT/enhancer binding protein (C/EBP), beta | 1 | tcTTttaccAc | plus | |||||||||||||||||
c=6% | |||||||||||||||||||||
FOXL1 | Forkhead box L1 | 24 | aaagaATA | minus | |||||||||||||||||
g=26% | |||||||||||||||||||||
HLTF | Helicase-like transcription factor | 2 | attCtTttac | plus | |||||||||||||||||
C=100% | |||||||||||||||||||||
NR3C1 | Nuclear Receptor Subfamily 3, Group C, Member 1 | 1 | agaataagatGTtCa | minus | |||||||||||||||||
(Glucocorticoid Receptor) | g=80% | ||||||||||||||||||||
SOX3 | SRY (sex determining region Y)-box 3 | 1 | ttaTTcTttt | plus | |||||||||||||||||
c=7% | |||||||||||||||||||||
SOX5 | SRY (sex determining region Y)-box 5 | 73 | aTTcTTt | plus | |||||||||||||||||
c=0% | |||||||||||||||||||||
SOX6 | SRY (sex determining region Y)-box 56 | 6 | ttaTTcTttt | plus | |||||||||||||||||
c=0% | |||||||||||||||||||||
SRY | Sex determining region Y | 9 | taaaAgAAa | minus | |||||||||||||||||
g=0% | |||||||||||||||||||||
ZNF263 | Zinc finger protein 263 | 1 | agaGcAgtggtaaaagaataa | minus | |||||||||||||||||
g=75% | |||||||||||||||||||||
T | CDX2 | Caudal type homeobox 2 | 13 | tggtaAaaAAa | minus | ||||||||||||||||
0.34 | A=100% | ||||||||||||||||||||
FOXA1 | Forkhead box A1 | 1 | atctTaTTtttttac | plus | |||||||||||||||||
t=0% | |||||||||||||||||||||
FOXD1 | Forkhead Box D1 | 14 | gTAAAaAa | minus | |||||||||||||||||
A=100% | |||||||||||||||||||||
FOXD3 | Forkhead box D3 | 29 | tctTaTTttttt | plus | |||||||||||||||||
t=68% | |||||||||||||||||||||
FOXI1 | Forkhead box I1 | 29 | tctTaTTTtttt | plus | |||||||||||||||||
T=100% | |||||||||||||||||||||
FOXL1 | Forkhead box L1 | 59 | aaaaaATA | minus | |||||||||||||||||
a=57% | |||||||||||||||||||||
FOXO1 | Forkhead Box O1 | 13 | attTtTTtacc | plus | |||||||||||||||||
T=100% | |||||||||||||||||||||
FOXO1 | Forkhead Box O1 | 2 | tctTaTTtttt | plus | |||||||||||||||||
t=88% | |||||||||||||||||||||
FOXO3 | Forkhead Box O3 | 9 | ggtAAAaA | plus | |||||||||||||||||
A=92% | |||||||||||||||||||||
FOXP1 | Forkhead box P1 | 1 | cagtggtAAAaAaat | minus | |||||||||||||||||
A=100% | |||||||||||||||||||||
FOXP2 | Forkhead box P2 | 13 | tggTAAAaAaa | minus | |||||||||||||||||
A=100% | |||||||||||||||||||||
GATA1 | GATA binding protein 1 | 2 | atcTTATtttt | plus | |||||||||||||||||
t=88% | |||||||||||||||||||||
GATA1 | GATA binding protein 1 | 10 | tttTTAccact | plus | |||||||||||||||||
t=51% | |||||||||||||||||||||
GATA2 | GATA binding protein 2 | 2 | atttttTTAcCact | plus | |||||||||||||||||
t=54% | |||||||||||||||||||||
GATA2 | GATA binding protein 2 | 1 | aacatcTTATtttt | plus | |||||||||||||||||
t=72% | |||||||||||||||||||||
GATA3 | GATA Binding Protein 3 | 24 | AaATAAga | minus | |||||||||||||||||
A=100% | |||||||||||||||||||||
GATA4 | GATA binding protein 4 | 2 | tcTTATttttt | plus | |||||||||||||||||
t=79% | |||||||||||||||||||||
HLTF | Helicase-like transcription factor | 1 | catCtTattt | plus | |||||||||||||||||
t=25% | |||||||||||||||||||||
MEF2C | Myocyte Enhancer Factor 2C | 1 | ggtaaaaAAATAaga | minus | |||||||||||||||||
A=95% | |||||||||||||||||||||
MEF2C | Myocyte Enhancer Factor 2C | 1 | gtggtaaAAAaAtaa | minus | |||||||||||||||||
A=97% | |||||||||||||||||||||
NR3C1 | Nuclear Receptor Subfamily 3, Group C, Member 1 | 1 | aaaataagatGTtCa | minus | |||||||||||||||||
(Glucocorticoid Receptor) | a=15% | ||||||||||||||||||||
SOX5 | SRY (sex determining region Y)-box 5 | 164 | aTTtTTt | plus | |||||||||||||||||
t=0% | |||||||||||||||||||||
SOX6 | SRY (sex determining region Y)-box 56 | 8 | ttaTTtTttt | plus | |||||||||||||||||
t=0% | |||||||||||||||||||||
SRY | Sex determining region Y | 19 | taaaAaAAt | minus | |||||||||||||||||
a=0% | |||||||||||||||||||||
SRY | Sex determining region Y | 4 | gtaaAaAAa | minus | |||||||||||||||||
A=100% | |||||||||||||||||||||
ZNF263 | Zinc finger protein 263 | 1 | agaGcAgtggtaaaaaaataa | minus | |||||||||||||||||
a=19% | |||||||||||||||||||||
rs8179673 | T | ARID3A | AT rich interactive domain 3A | 397 | AatAAa | plus | |||||||||||||||
(BRIGHT-like) | t=63% | ||||||||||||||||||||
ARID3A | AT rich interactive domain 3A | 227 | ATttAa | minus | |||||||||||||||||
(BRIGHT-like) | A=100% | ||||||||||||||||||||
EN1 | Engrailed homeobox 1 | 1 | aaataaaggtc | plus | |||||||||||||||||
t=80% | |||||||||||||||||||||
FOXA1 | Forkhead box A1 | 1 | ccTTTaTTtaatata | minus | |||||||||||||||||
a=27% | |||||||||||||||||||||
FOXL1 | Forkhead box L1 | 25 | attaaATA | plus | |||||||||||||||||
T=91% | |||||||||||||||||||||
FOXL1 | Forkhead box L1 | 23 | atttaATA | minus | |||||||||||||||||
a=30% | |||||||||||||||||||||
GATA3 | GATA Binding Protein 3 | 27 | AaATAAag | plus | |||||||||||||||||
T=100% | |||||||||||||||||||||
HOXA5 | Hoxa5 | 27 | ctttatTt | minus | |||||||||||||||||
a=88% | |||||||||||||||||||||
LHX3 | LIM homeobox 3 | 3 | atATTAAaTaaag | minus | |||||||||||||||||
T=95% | |||||||||||||||||||||
NFIL3 | Nuclear factor, interleukin 3 regulated | 2 | TTAttTAAtat | minus | |||||||||||||||||
A=96% | |||||||||||||||||||||
NKX3-1 | NK3 homeobox |
72 | tTAtTTA | minus | |||||||||||||||||
A=100% | |||||||||||||||||||||
RORA_1 | RAR-related orphan receptor A | 11 | ataaaGGTCc | plus | |||||||||||||||||
t=60% | |||||||||||||||||||||
RXRa | Retinoid X receptor, alpha | 5 | taaAGgtCcat | plus | |||||||||||||||||
t=5% | |||||||||||||||||||||
SOX2 | SRY (sex determining region Y)-box 2 | 11 | CCtTTaTt | minus | |||||||||||||||||
a=0% | |||||||||||||||||||||
SOX3 | SRY (sex determining region Y)-box 3 | 1 | cctTTaTtta | minus | |||||||||||||||||
a=0% | |||||||||||||||||||||
SOX6 | SRY (sex determining region Y)-box 6 | 1 | cctTTaTtta | minus | |||||||||||||||||
a=0% | |||||||||||||||||||||
SOX10 | SRY (sex determining region Y)-box 10 | 142 | cttTaT | minus | |||||||||||||||||
a=0% | |||||||||||||||||||||
SRY | Sex determining region Y | 9 | ttaaAtAAa | plus | |||||||||||||||||
t=7% | |||||||||||||||||||||
TBP | TATA Box Binding Protein | 1 | gtATAtAttaaataa | plus | |||||||||||||||||
t=16% | |||||||||||||||||||||
C | BRCA1 | breast cancer 1, early onset | 39 | acAaagg | plus | ||||||||||||||||
0.26 | c=81% | ||||||||||||||||||||
FOXA1 | Forkhead box A1 | 1 | ccTTTgTTtaatata | minus | |||||||||||||||||
g=9% | |||||||||||||||||||||
FOXA2 | Forkhead box A2 | 1 | TgTTtaatatat | minus | |||||||||||||||||
g=72% | |||||||||||||||||||||
FOXA2 | Forkhead box A2 | 1 | TaTggACctttg | minus | |||||||||||||||||
g=36% | |||||||||||||||||||||
FOXD1 | Forkhead Box D1 | 6 | tTAAACAa | plus | |||||||||||||||||
C=90% | |||||||||||||||||||||
FOXH1 | Forkhead Box H1 | 1 | tatAtTaaACa | plus | |||||||||||||||||
C=100% | |||||||||||||||||||||
FOXO1 | Forkhead Box O1 | 1 | cttTGTTtaat | minus | |||||||||||||||||
G=100% | |||||||||||||||||||||
FOXP1 | Forkhead box P1 | 1 | atatattAAAcAaag | plus | |||||||||||||||||
c=89% | |||||||||||||||||||||
FOXP2 | Forkhead box P2 | 1 | tatTAAACAaa | plus | |||||||||||||||||
C=99% | |||||||||||||||||||||
FOXQ1 | Forkhead box Q1 | 1 | ctttGTTTAat | minus | |||||||||||||||||
G=100% | |||||||||||||||||||||
HLTF | Helicase-like transcription factor | 1 | gacCtTtgtt | minus | |||||||||||||||||
g=17% | |||||||||||||||||||||
HNF1A | Hepatocyte Nuclear Factor 1 homeobox A | 1 | gtTTAaTatatact | minus | |||||||||||||||||
g=67% | |||||||||||||||||||||
HNF4A | Hepatocyte Nuclear Factor 4, Alpha | 1 | tggacctttgtttaa | minus | |||||||||||||||||
g=12% | |||||||||||||||||||||
HNF4G | Hepatocyte Nuclear Factor 4, Gamma | 1 | attaaaCAaAGgtcc | plus | |||||||||||||||||
C=93% | |||||||||||||||||||||
JUN::FOS | Jun Proto-Oncogene | 48 | TtAaacA | plus | |||||||||||||||||
FBJ Murine Osteosarcoma Viral Oncogene Homolog | c=83% | ||||||||||||||||||||
RXRa | Retinoid X receptor, alpha | 1 | caaAGgtCcat | plus | |||||||||||||||||
c=85% | |||||||||||||||||||||
SPX2 | SRY (sex determining region Y)-box 2 | 2 | CCtTgGTc | minus | |||||||||||||||||
G=100% | |||||||||||||||||||||
SOX3 | SRY (sex determining region Y)-box 3 | 1 | cctTTGTttA | minus | |||||||||||||||||
G=93% | |||||||||||||||||||||
SOX5 | SRY (sex determining region Y)-box 5 | 134 | tTTGTTt | minus | |||||||||||||||||
G=96% | |||||||||||||||||||||
SOX6 | SRY (sex determining region Y)-box 56 | 1 | cCtTTGTtta | minus | |||||||||||||||||
G=100% | |||||||||||||||||||||
SOX9 | SRY (sex determining region Y)-box 9 | 4 | cctTtGttt | minus | |||||||||||||||||
G=95% | |||||||||||||||||||||
SOX10 | SRY (sex determining region Y)-box 10 | 141 | cttTgT | minus | |||||||||||||||||
g=86% | |||||||||||||||||||||
SRY | Sex determining region Y | 4 | ttaaACAAa | plus | |||||||||||||||||
C=93% | |||||||||||||||||||||
TBP | TATA Box Binding Protein | 1 | gtATAtAttaaacaa | plus | |||||||||||||||||
c=30% | |||||||||||||||||||||
rs7582694 | G | BATF::JUN | Basic leucine zipper transcription factor, | 1 | tctaTGtgTcA | minus | |||||||||||||||
ATF-like Jun proto-oncogene | c=5% | ||||||||||||||||||||
CEBPa | CCAAT/enhancer binding protein (C/EBP), alpha | 1 | gTTgCatactc | minus | |||||||||||||||||
c=32% | |||||||||||||||||||||
FOSL2 | FOS-Like Antigen 2 | 1 | ctaTGtgTCAt | minus | |||||||||||||||||
c=19% | |||||||||||||||||||||
FOXC1 | Forkhead box C1 | 3 | atagaGTA | plus | |||||||||||||||||
g=25% | |||||||||||||||||||||
HLTF | Helicase-like transcription factor | 1 | acaCaTagag | plus | |||||||||||||||||
g=37% | |||||||||||||||||||||
HLF | Hepatic Leukemia Factor | 1 | ggTtgcatactc | minus | |||||||||||||||||
c=28% | |||||||||||||||||||||
JUN(var.2) | Jun Proto-Oncogene | 2 | actctaTGtgTCAt | minus | |||||||||||||||||
c=10% | |||||||||||||||||||||
JUNB | Jun B Proto-Oncogene | 1 | ctaTGtgTCAt | minus | |||||||||||||||||
c=20% | |||||||||||||||||||||
MAX | MYC Associated Factor X | 1 | tgaCACaTag | plus | |||||||||||||||||
g=29% | |||||||||||||||||||||
SOX3 | SRY (sex determining region Y)-box 3 | 2 | tctaTGTgtc | minus | |||||||||||||||||
c=75% | |||||||||||||||||||||
SOX10 | SRY (sex determining region Y)-box 10 | 77 | ctaTgT | minus | |||||||||||||||||
c=86% | |||||||||||||||||||||
T | T, Brachyury Homolog | 1 | cTAtGTGTcAt | minus | |||||||||||||||||
c=70% | |||||||||||||||||||||
C | BATF: JUN | Basic leucine zipper transcription factor, | 2 | tgtaTGtgTcA | minus | ||||||||||||||||
0.33 | ATF-like Jun proto-oncogene | g=27% | |||||||||||||||||||
BH1HE40 | Basic Helix-Loop-Helix Family, Member E40 | 2 | gaCACaTacag | plus | |||||||||||||||||
c=75% | |||||||||||||||||||||
CEBPa | CCAAT/enhancer binding protein (C/EBP), alpha | 1 | gTTgCatactg | minus | |||||||||||||||||
g=6% | |||||||||||||||||||||
FOSL2 | FOS-Like Antigen 2 | 1 | gtaTGtgTCAt | minus | |||||||||||||||||
g=39% | |||||||||||||||||||||
FOXC1 | Forkhead box C1 | 7 | atacaGTA | plus | |||||||||||||||||
c=25% | |||||||||||||||||||||
FOXC1 | Forkhead box C1 | 10 | atactGTA | minus | |||||||||||||||||
G=100% | |||||||||||||||||||||
HLF | Hepatic Leukemia Factor | 1 | ggTtgcatactg | minus | |||||||||||||||||
g=17% | |||||||||||||||||||||
HIF1a: ARNT | Hypoxia Inducible Factor 1, Alpha Subunit | 11 | gtatGTGt | minus | |||||||||||||||||
Aryl Hydrocarbon Receptor Nuclear Translocator | g=47% | ||||||||||||||||||||
JUN(var.2) | Jun Proto-Oncogene | 1 | actgtaTGtgTCAt | minus | |||||||||||||||||
g=32% | |||||||||||||||||||||
JUNB | Jun B Proto-Oncogene | 1 | gtaTGtgTCAt | minus | |||||||||||||||||
g=24% | |||||||||||||||||||||
rs7574070 | A | CEBPB | CCAAT/enhancer binding protein (C/EBP), beta | 1 | aaTgtCtccAt | plus | |||||||||||||||
A=100% | |||||||||||||||||||||
MZF1_1-4 | Myeloid Zinc Finger 1 | 112 | tGGaGA | minus | |||||||||||||||||
t=40% | |||||||||||||||||||||
NFE2L1::MafG | Nuclear Factor, Erythroid 2-Like 1 | 123 | caTGAa | plus | |||||||||||||||||
V-Maf Avian Musculoaponeurotic | a=85% | ||||||||||||||||||||
Fibrosarcoma Oncogene Homolog G | |||||||||||||||||||||
PAX2 | Paired box gene 2 | 3 | cttCatgg | minus | |||||||||||||||||
t=35% | |||||||||||||||||||||
RFX1 | Regulatory Factor X, 1 | 1 | ttcttCatgGagAC | minus | |||||||||||||||||
(Influences HLA Class II Expression) | t=84% | ||||||||||||||||||||
RFX5 | Regulatory factor X, 5 (influences HLA | 1 | cttCatgGagACatt | minus | |||||||||||||||||
class II expression) | t=78% | ||||||||||||||||||||
STAT3 | Signal transducer and activator of | 1 | cTtCatGgAga | minus | |||||||||||||||||
transcription 3 (acute-phase response factor) | t=30% | ||||||||||||||||||||
STAT5A::STAT5B | Signal transducer and activator of | 1 | gtcTCcatGAA | plus | |||||||||||||||||
transcription 5A and transcription 5B | a=43% | ||||||||||||||||||||
THAP1 | THAP domain containing, | 3 | tctCCatga | plus | |||||||||||||||||
apoptosis associated protein 1 | a=29% | ||||||||||||||||||||
ZNF354C | Zinc finger protein 354C | 87 | ctCCAt | plus | |||||||||||||||||
A=100% | |||||||||||||||||||||
C | EBF1 | Early B-cell factor 1 | 7 | ttCttcaGgGa | minus | ||||||||||||||||
0.47 | G=97% | ||||||||||||||||||||
ELK1 | ELK1, member of ETS oncogene family | 2 | ctccctGAag | plus | |||||||||||||||||
c=86% | |||||||||||||||||||||
STAT1 | Signal Transducer And Activator | 6 | cTTCagGGAga | minus | |||||||||||||||||
Of Transcription 1, 91kDa | G=96% | ||||||||||||||||||||
STAT3 | Signal transducer and activator of | 3 | cTtCagGgAga | minus | |||||||||||||||||
transcription 3 (acute-phase response factor) | g=45% | ||||||||||||||||||||
STAT4 | Signal Transducer And Activator Of Transcription 4 | 1 | cTtcaggGAgacat | minus | |||||||||||||||||
g=43% | |||||||||||||||||||||
STAT5A::STAT5B | Signal transducer and activator of | 4 | gtcTCcctGAA | plus | |||||||||||||||||
transcription 5A and transcription 5B | c=37% | ||||||||||||||||||||
TFAP2C | Transcription factor AP-2 gamma | 1 | ccattCttcAGggag | minus | |||||||||||||||||
(activating enhancer binding protein 2 gamma) | G=99% | ||||||||||||||||||||
THAP1 | THAP domain containing, | 3 | tctCCctga | plus | |||||||||||||||||
apoptosis associated protein 1 | c=68% | ||||||||||||||||||||
rs7572482 | A | ARID3A | AT rich interactive domain 3A | 237 | ATgAAa | plus | |||||||||||||||
(BRIGHT-like) | A=100% | ||||||||||||||||||||
EBF1 | Early B-cell factor 1 | 2 | ttCtCatGaaa | plus | |||||||||||||||||
a=27% | |||||||||||||||||||||
EBF1 | Early B-cell factor 1 | 1 | ttttCatGaGa | minus | |||||||||||||||||
t=37% | |||||||||||||||||||||
FOS | FBJ Murine Osteosarcoma Viral Oncogene Homolog | 1 | tcTttcTCAtg | plus | |||||||||||||||||
A=100% | |||||||||||||||||||||
NFE2L1::MafG | Nuclear Factor, Erythroid 2-Like 1 | 79 | caTGAg | minus | |||||||||||||||||
V-Maf Avian Musculoaponeurotic | T=100% | ||||||||||||||||||||
Fibrosarcoma Oncogene Homolog G | |||||||||||||||||||||
NFE2L1::MafG | Nuclear Factor, Erythroid 2-Like 1 | 123 | caTGAa | plus | |||||||||||||||||
V-Maf Avian Musculoaponeurotic | a=85% | ||||||||||||||||||||
Fibrosarcoma Oncogene Homolog G | |||||||||||||||||||||
POU5F1::SOX2 | POU Class 5 Homeobox 1 | 1 | ctTTctcATGaaaac | plus | |||||||||||||||||
SRY (Sex Determining Region Y)-Box 2 | A=90% | ||||||||||||||||||||
RFX1 | Regulatory Factor X, 1 | 1 | tttctCatgaaaAC | plus | |||||||||||||||||
(Influences HLA Class II Expression) | a=59% | ||||||||||||||||||||
SPIB | Spi-B transcription factor (Spi-1/PU.1 related) | 52 | tgaGaAA | minus | |||||||||||||||||
t=37% | |||||||||||||||||||||
SOX3 | SRY (sex determining region Y)-box 3 | 1 | tctTTcTcat | plus | |||||||||||||||||
a=1% | |||||||||||||||||||||
STAT3 | Signal transducer and activator of | 1 | tTcatgagAAa | minus | |||||||||||||||||
transcription 3 (acute-phase response factor) | t=60% | ||||||||||||||||||||
STAT4 | Signal Transducer And Activator Of Transcription 4 | 1 | tTcatgaGAAagaa | minus | |||||||||||||||||
t=35% | |||||||||||||||||||||
STAT6 | Signal Transducer And Activator Of Transcription 6 | 1 | tctTTCtcaaGAAaa | plus | |||||||||||||||||
Interleukin-4 Induced | a=18% | ||||||||||||||||||||
STAT6 | Signal Transducer And Activator Of Transcription 6 | 1 | gttTTCatgaGAAag | minus | |||||||||||||||||
Interleukin-4 Induced | t=51% | ||||||||||||||||||||
STAT5A::STAT5B | Signal transducer and activator of | 1 | ttTctcatGAA | plus | |||||||||||||||||
transcription 5A and transcription 5B | a=43% | ||||||||||||||||||||
STAT5A::STAT5B | Signal transducer and activator of | 1 | gtTTtcatGAg | minus | |||||||||||||||||
transcription 5A and transcription 5B | t=5% | ||||||||||||||||||||
G | ARNT | Aryl Hydrocarbon Receptor Nuclear Translocator | 14 | cACGaG | minus | ||||||||||||||||
0.47 | C=100% | ||||||||||||||||||||
ARNT | Aryl Hydrocarbon Receptor Nuclear Translocator | 14 | ctCGTG | plus | |||||||||||||||||
G=100% | |||||||||||||||||||||
ARNT::AHR | Aryl Hydrocarbon Receptor Nuclear Translocator | 14 | ctCGTG | plus | |||||||||||||||||
Aryl Hydrocarbon Receptor | G=96% | ||||||||||||||||||||
SOX3 | SRY (sex determining region Y)-box 3 | 10 | tctTTcTcgt | plus | |||||||||||||||||
g=1% | |||||||||||||||||||||
SPI1 | Spleen focus forming virus (SFFV) | 1 | acgagaaaGAAgtag | minus | |||||||||||||||||
proviral integration oncogene spi1 | c=12% | ||||||||||||||||||||
STAT3 | Signal transducer and activator of | 3 | tTcacgagAAa | minus | |||||||||||||||||
transcription 3 (acute-phase response factor) | c=36% | ||||||||||||||||||||
STAT4 | Signal Transducer And Activator Of Transcription 4 | 1 | tTcacgaGAAagaa | minus | |||||||||||||||||
c=52% | |||||||||||||||||||||
STAT6 | Signal Transducer And Activator Of Transcription 6 | 3 | tctTTCtcgaGAAaa | plus | |||||||||||||||||
Interleukin-4 Induced | g=65% | ||||||||||||||||||||
STAT6 | Signal Transducer And Activator Of Transcription 6 | 1 | gttTTCacgaGAAag | minus | |||||||||||||||||
Interleukin-4 Induced | c=37% | ||||||||||||||||||||
ZBTB33 | Zinc Finger And BTB Domain Containing 33 | 1 | ttCtCGtGaaaactg | plus | |||||||||||||||||
G=100% | |||||||||||||||||||||
rs7568275 | C | FOXA1 | Forkhead box A1 | 1 | gtaaTaTTaactgaa | minus | |||||||||||||||
g=6% | |||||||||||||||||||||
FOXI1 | Forkhead box I1 | 3 | ataTgTTcagtt | plus | |||||||||||||||||
c=0% | |||||||||||||||||||||
FOXL1 | Forkhead box L1 | 10 | tgaacATA | minus | |||||||||||||||||
g=9% | |||||||||||||||||||||
HLTF | Helicase-like transcription factor | 8 | gaaCaTataa | minus | |||||||||||||||||
g=20% | |||||||||||||||||||||
NKX2-5 | NK2 Homeobox 5 | 19 | ttAActg | minus | |||||||||||||||||
g=65% | |||||||||||||||||||||
SRF | Serum Response Factor | 1 | actgaaCatAtaaaGtaa | minus | |||||||||||||||||
(C-Fos Serum Response Element-Binding | g=0.44 | ||||||||||||||||||||
Transcription Factor) | |||||||||||||||||||||
G | BATF: JUN | Basic leucine zipper transcription factor, | 2 | atgtTGAgTtA | plus | ||||||||||||||||
0.28 | ATF-like Jun proto-oncogene | G=99% | |||||||||||||||||||
BATF::JUN | Basic leucine zipper transcription factor, | 1 | atatTaAcTcA | minus | |||||||||||||||||
ATF-like Jun proto-oncogene | c=82% | ||||||||||||||||||||
BRCA1 | Breast Cancer 1, Early Onset | 43 | tcAacat | minus | |||||||||||||||||
c=81% | |||||||||||||||||||||
FOXA1 | Forkhead box A1 | 1 | gtaaTaTTaactcaa | minus | |||||||||||||||||
c=33% | |||||||||||||||||||||
FOXA1 | Forkhead box A1 | 1 | tataTgTTgagttaa | plus | |||||||||||||||||
g=13% | |||||||||||||||||||||
FOXA2 | Forkhead box A2 | 1 | TgTTgAgttaat | plus | |||||||||||||||||
g=22% | |||||||||||||||||||||
FOXA2 | Forkhead box A2 | 1 | TaTTaActcaac | minus | |||||||||||||||||
c=33% | |||||||||||||||||||||
Foxd3 | Forkhead box D3 | 1 | ataTgTTgagtt | plus | |||||||||||||||||
g=21% | |||||||||||||||||||||
FOXD3 | Forkhead box D3 | 1 | taaTaTTaactc | minus | |||||||||||||||||
c=26% | |||||||||||||||||||||
FOXH1 | Forkhead Box H1 | 2 | ttaAcTcaACa | minus | |||||||||||||||||
c=70% | |||||||||||||||||||||
FOXI1 | Forkhead box I1 | 1 | ataTgTTgagtt | plus | |||||||||||||||||
g=0% | |||||||||||||||||||||
FOXL1 | Forkhead box L1 | 16 | tcaacATA | minus | |||||||||||||||||
c=17% | |||||||||||||||||||||
HLTF | Helicase-like transcription factor | 1 | caaCaTataa | minus | |||||||||||||||||
c=17% | |||||||||||||||||||||
JUN::FOS | Jun Proto-Oncogene | 17 | TaActcA | minus | |||||||||||||||||
FBJ Murine Osteosarcoma Viral Oncogene Homolog | c=83% | ||||||||||||||||||||
MAFF | V-Maf Avian Musculoaponeurotic | 1 | attaacTCAacAtataaa | minus | |||||||||||||||||
Fibrosarcoma Oncogene Homolog F | C=94% | ||||||||||||||||||||
MAFK | V-Maf Avian Musculoaponeurotic | 1 | ttaacTCAaCAtata | minus | |||||||||||||||||
Fibrosarcoma Oncogene Homolog K | C=96% | ||||||||||||||||||||
ZNF354C | Zinc finger protein 354C | 58 | ctCCAc | minus | |||||||||||||||||
C=100% | |||||||||||||||||||||
rs10181656 | C | AR | Androgen Receptor | 1 | tgGtACAagggGtga | minus | |||||||||||||||
G=95% | |||||||||||||||||||||
E2F6 | E2F transcription factor 6 | 3 | ggGtGaGAaga | minus | |||||||||||||||||
G=100% | |||||||||||||||||||||
GATA1 | GATA binding protein 1 | 4 | ctcTTcTCacc | plus | |||||||||||||||||
c=22% | |||||||||||||||||||||
GATA2 | GATA binding protein 2 | 1 | caactcTTcTCacc | plus | |||||||||||||||||
c=40% | |||||||||||||||||||||
GATA4 | GATA binding protein 4 | 3 | tcTTcTCaccc | plus | |||||||||||||||||
c=45% | |||||||||||||||||||||
HLTF | Helicase-like transcription factor | 7 | cccCtTgtac | plus | |||||||||||||||||
c=17% | |||||||||||||||||||||
KLF5 | Kruppel-like factor 5 (intestinal) | 1 | ttctCaCCCc | plus | |||||||||||||||||
C=100% | |||||||||||||||||||||
MZF1_1-4 | Myeloid Zinc Finger 1 | 58 | gGGtGA | minus | |||||||||||||||||
G=90% | |||||||||||||||||||||
MZF1_5-13 | Myeloid Zinc Finger 1 | 1 | caAgGgtga | minus | |||||||||||||||||
g=88% | |||||||||||||||||||||
NR1H3: RXRa | Nuclear Receptor Subfamily 1, Group H, Member 3 | 1 | TcaccccttgTaccactac | plus | |||||||||||||||||
Retinoid X receptor, alpha | c=77% | ||||||||||||||||||||
MAFF | V-Maf Avian Musculoaponeurotic | 1 | attaacTCAacAtataaa | minus | |||||||||||||||||
Fibrosarcoma Oncogene Homolog F | C=94% | ||||||||||||||||||||
MAFK | V-Maf Avian Musculoaponeurotic | 1 | ttaacTCAaCAtata | minus | |||||||||||||||||
Fibrosarcoma Oncogene Homolog K | C=96% | ||||||||||||||||||||
ZNF354C | Zinc finger protein 354C | 58 | ctCCAc | minus | |||||||||||||||||
C=100% | |||||||||||||||||||||
rs10181656 | C | AR | Androgen Receptor | 1 | tgGtACAagggGtga | minus | |||||||||||||||
G=95% | |||||||||||||||||||||
E2F6 | E2F transcription factor 6 | 3 | ggGtGaGAaga | minus | |||||||||||||||||
G=100% | |||||||||||||||||||||
GATA1 | GATA binding protein 1 | 4 | ctcTTcTCacc | plus | |||||||||||||||||
c=22% | |||||||||||||||||||||
GATA2 | GATA binding protein 2 | 1 | caactcTTcTCacc | plus | |||||||||||||||||
c=40% | |||||||||||||||||||||
GATA4 | GATA binding protein 4 | 3 | tcTTcTCaccc | plus | |||||||||||||||||
c=45% | |||||||||||||||||||||
HLTF | Helicase-like transcription factor | 7 | cccCtTgtac | plus | |||||||||||||||||
c=17% | |||||||||||||||||||||
KLF5 | Kruppel-like factor 5 (intestinal) | 1 | ttctCaCCCc | plus | |||||||||||||||||
C=100% | |||||||||||||||||||||
MZF1_1-4 | Myeloid Zinc Finger 1 | 58 | gGGtGA | minus | |||||||||||||||||
G=90% | |||||||||||||||||||||
MZF1_5-13 | Myeloid Zinc Finger 1 | 1 | caAgGgtga | minus | |||||||||||||||||
g=88% | |||||||||||||||||||||
NR1H3: RXRa | Nuclear Receptor Subfamily 1, Group H, Member 3 | 1 | TcaccccttgTaccactac | plus | |||||||||||||||||
Retinoid X receptor, alpha | c=77% | ||||||||||||||||||||
SP1 | Specificity Protein 1 | 1 | ttCtcacCcct | plus | |||||||||||||||||
C=80% | |||||||||||||||||||||
SREBF1 | Sterol regulatory element binding | 2 | cTCAcccctt | plus | |||||||||||||||||
transcription factor 1 | c=88% | ||||||||||||||||||||
SREBF2 | Sterol regulatory element binding | 2 | aaGgggTGAg | minus | |||||||||||||||||
transcription factor 2 | g=77% | ||||||||||||||||||||
ZNF263 | Zinc finger protein 263 | 1 | agtGgtacaaggggtgagaag | minus | |||||||||||||||||
g=59% | |||||||||||||||||||||
G | BRCA1 | Breast cancer 1, early onset | 12 | tcAgccc | plus | ||||||||||||||||
0.26 | g=9% | ||||||||||||||||||||
GATA1 | GATA binding protein 1 | 1 | ctcTTcTCagc | plus | |||||||||||||||||
g=34% | |||||||||||||||||||||
GATA2 | GATA binding protein 2 | 1 | caactcTTcTCagc | plus | |||||||||||||||||
g=45% | |||||||||||||||||||||
GATA4 | GATA binding protein 4 | 1 | tcTTcTCagcc | plus | |||||||||||||||||
g=34% | |||||||||||||||||||||
HLTF | Helicase-like transcription factor | 1 | gccCtTgtac | plus | |||||||||||||||||
g=20% | |||||||||||||||||||||
HNF4G | Hepatocyte Nuclear Factor 4, Gamma | 1 | gtggtaCAagGgctg | minus | |||||||||||||||||
c=46% | |||||||||||||||||||||
KLF5 | Kruppel-like factor 5 (intestinal) | 1 | tctCagCCCt | plus | |||||||||||||||||
g=38% | |||||||||||||||||||||
MAFB | v-maf musculoaponeurotic fibrosarcoma | 15 | Gctgagaa | minus | |||||||||||||||||
oncogene homolog B (avian) | c=80% | ||||||||||||||||||||
SP1 | Specificity Protein 1 | 1 | tctcagCcctt | plus | |||||||||||||||||
g=43% | |||||||||||||||||||||
SREBF1 | Sterol regulatory element binding | 1 | cTCAgccctt | plus | |||||||||||||||||
transcription factor 1 | g=12% | ||||||||||||||||||||
STAT3 | Signal transducer and activator of | 1 | gggCtgagAAg | minus | |||||||||||||||||
transcription 3 (acute-phase response factor) | C=91% | ||||||||||||||||||||
THAP1 | THAP domain containing, | 2 | cagCCcttg | plus | |||||||||||||||||
apoptosis associated protein 1 | g=6% |
The
The common rs7574865 SNP
The common rs11889341 SNP
The common rs8179673 SNP
The common rs7582694 SNP
The common rs7574070 SNP
The common rs7572482 SNP
The remaining two
Genome-wide association studies (GWAS) over the last decade have identified nearly 6,500 disease or trait-predisposing SNPs where only 7% of these are located in protein-coding regions of the genome
The rs7574865 rSNP
The rs11889341 rSNP
The rs8179673 rSNP
The rs7574070 rSNP
The rs7572482 rSNP
Human diseases or conditions can be associated with rSNPs of the
SNPs that alter the TFBS are not only found in the promoter regions but in the introns, exons and the UTRs of a gene. The nucleus of the cell is where epigenetic alterations occur and TFs operate to convert chromosomes into single stranded DNA for mRNA transcription while it is the cytoplasm where mRNA is processed by separating exons and introns for protein translation. Consequently, it doesn’t matter where TFs bind the DNA in the nucleus because it is only there that TFs function. The SNPs outlined in this report should be considered as rSNPs since they change the DNA landscape for TF binding and have been associated with disease. In this report, examples have been described to illustrate that a change in rSNP alleles in the
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AR | The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. They are expressed in bone marrow, mammary gland, prostate, testicular and muscle tissues where they exist as dimers coupled to Hsp90 and HMGB proteins. | ||
ARID3A | Transcription factor which may be involved in the control of cell cycle progression by the RB1/E2F1 pathway and in B-cell differentiation | ||
ARNT | This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. | ||
ARNT::AHR | The dimer alters transcription of target genes. Involved in the induction of several enzymes that participate in xenobiotic metabolism. | ||
BATF::JUN | The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. | ||
Bhlhe40 | This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. | ||
BRCA1 | This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. | ||
CDX2 | This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. major regulator of intestine-specific genes involved in cell growth an differentiation. | ||
CEBPA | C/EBP is a DNA-binding protein that recognizes two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers | ||
CEBPB | Important transcriptional activator regulating the expression of genes involved in immune and inflammatory responses. Binds to regulatory regions of several acute-phase and cytokines genes and probably plays a role in the regulation of acute-phase reaction, inflammation and hemopoiesis. | ||
CRX | The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. | ||
E2F6 | The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. | ||
EBF1 | Transcriptional activator which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' | ||
ELK1 | The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. | ||
EN1 | Homeobox-containing genes are thought to have a role in controlling development. | ||
FOS | The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. The FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Controls osteoclast survival and size. As a dimer with JUN, activates LIF transcription. | ||
FOSL2 | The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. The FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Controls osteoclast survival and size. As a dimer with JUN, activates LIF transcription. Activates CEBPB transcription in PGE2-activated osteoblasts. | ||
FOXA1 | Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. | ||
FOXA2 | Involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. | ||
FOXC1 | This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. An important regulator of cell viability and resistance to oxidative stress. | ||
FOXD1 | This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. | ||
FOXD3 | This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. Acts are a transcriptional activator and repressor. | ||
FOXH1 | Transcriptional activator. Recognizes and binds to the DNA sequence 5-TGTGTGTATT-3. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. | ||
FOXI1 | This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. | ||
FOXL1 | FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. Transcriptional repressor. It plays an important role in the specification and differentiation of lung epithelium. | ||
FOXO1 | Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress. | ||
FOXO3 | This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. | ||
FOXP1 | This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Transcriptional repressor. Plays an important role in the specification and differentiation of lung epithelium. | ||
FOXQ1 | This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. Plays a role in hair follicle differentiation. | ||
FOXP2 | Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. | ||
GATA1 | The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. | ||
GATA2 | A member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes and play an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. | ||
GATA3 | Plays an important role in endothelial cell biology. | ||
GATA4 | This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Promotes cardiac myocyte enlargement. | ||
HIF1a: ARNT | HIF1 is a homodimeric basic helix-loop-helix structure composed of HIF1a, the alpha subunit, and the aryl hydrocarbon receptor nuclear translocator (Arnt), the beta subunit. The protein encoded by HIF1 is a Per-Arnt-Sim (PAS) transcription factor found in mammalian cells growing at low oxygen concentrations. It plays an essential role in cellular and systemic responses to hypoxia. | ||
HLTF | This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. | ||
HNF1A | Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. | ||
HNF4a | The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes | ||
HNF4g | Transcription factor. Has a lower transcription activation potential than HNF4-alpha | ||
HOXA5 | Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. | ||
JUN (var.2) | This gene is the putative transforming gene of avian sarcoma virus 17. It encodes a protein which is highly similar to the viral protein, and which interacts directly with specific target DNA sequences to regulate gene expression. | ||
JUN::FOS | Promotes activity of NR5A1 when phosphorylated by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. Has a critical function in regulating the development of cells destined to form and maintain the skeleton. It is thought to have an important role in signal transduction, cell proliferation and differentiation. | ||
JUNB | Transcription factor involved in regulating gene activity following the primary growth factor response. Binds to the DNA sequence 5-TGACGTCA-3 | ||
KLF5 | Transcription factor that binds to GC box promoter elements. Activates transcription of genes. | ||
LHX3 | This gene encodes a member a large protein family which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. | ||
MAFB | The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This protein plays an essential role in the regulation of hematopoiesis and may play a role in tumorigenesis. | ||
MAFF | The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. Interacts with the upstream promoter region of the oxytocin receptor gene. May be involved in the cellular stress response | ||
415290786765000MAFK | Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. Small Maf proteinS heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor. | ||
MAX | The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors | ||
MEF2C | Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of development. many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. | ||
MZF1_1-4 | Binds to target promoter DNA and functions as trancription regulator. May be one regulator of transcriptional events during hemopoietic development. Isoforms of this protein have been shown to exist at protein level. | ||
MZF1_5-13 | Binds to target promoter DNA and functions as trancription regulator. May be one regulator of transcriptional events during hemopoietic development. Isoforms of this protein have been shown to exist at protein level. | ||
NFE2L1:MAFG | Nuclear factor erythroid 2-related factor (Nrf2) coordinates the up-regulation of cytoprotective genes via the antioxidant response element (ARE). MafG is a ubiquitously expressed small maf protein that is nvolved in cell differentiation of erythrocytes. It dimerizes with P45 NF-E2 protein and activates expression of a and b-globin. | ||
NFIL3 | Expression of interleukin-3 (IL3; MIM 147740) is restricted to activated T cells, natural killer (NK) cells, and mast cell lines. | ||
NKX2-5 | This gene encodes a member of the NK family of homeobox-containing proteins. Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. | ||
NKX3-1 | This gene encodes a homeobox-containing transcription factor. This transcription factor functions as a negative regulator of epithelial cell growth in prostate tissue. | ||
Nr1h3::Rxra | The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. | ||
NR3C1 | Glucocorticoids regulate carbohydrate, protein and fat metabolism, modulate immune responses through supression of chemokine and cytokine production and have critical roles in constitutive activity of the CNS, digestive, hematopoietic, renal and reproductive systems. | ||
PAX2 | Probable transcription factor that may have a role in kidney cell differentiation. | ||
PDX1 | Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. | ||
POU5F1::SOX2 | This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. Forms a trimeric complex with SOX2 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. | ||
PRRX2 | The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. | ||
RFX1 | This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X2, X3, X4, and X5. Regulatory factor essential for MHC class II genes expression. Binds to the X boxes of MHC class II genes. | ||
RFX5 | Activates transcription from class II MHC promoters. Recognizes X-boxes. | ||
RORA_1 | The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. Orphan nuclear receptor. Binds DNA as a monomer to hormone response elements (HRE) containing a single core motif half-site preceded by a short A-T-rich sequence. | ||
RUNX2 | Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. | ||
RXRa | Retinoid X receptors (RXRs) and retinoic acid receptors (RARs), are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. | ||
SOX2 | This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. | ||
SOX3 | Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a | ||
switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural | |||
SOX5 | This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the | ||
regulation of embryonic development and in the determination of the cell fate. | |||
The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins | |||
and may play a role in chondrogenesis. | |||
SOX6 | The encoded protein is a transcriptional activator that is required for normal | ||
development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. | |||
SOX9 | Plays an important role in the normal skeletal development. May regulate the expression of other genes | ||
involved in chondrogenesis by acting as a transcription factor for these genes | |||
SOX10 | This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved | ||
in the regulation of embryonic development and in the determination of the cell fate. | |||
SOX17 | Acts as transcription regulator that binds target promoter DNA and bends the DNA. | ||
SP1 | Can activate or repress transcription in response to physiological and | ||
pathological stimuli. Regulates the expression of a large number of | |||
genes involved in a variety of processes such as cell growth, | |||
apoptosis, differentiation and immune responses. | |||
SPI1 | This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid | ||
and B-lymphoid cell development | |||
SPIB | The protein encoded by this gene is a transcriptional activator that binds to the | ||
PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. | |||
SRF | This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. | ||
This protein binds to the serum response element (SRE) in the promoter region of target genes. | |||
Required for cardiac differentiation and maturation. | |||
SREBF1 | Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the fatty acid and to a lesser degree the cholesterol synthesis pathway. | ||
SREBF2 | This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. | ||
SRY | Transcriptional regulator that controls a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors | ||
STAT1 | The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. | ||
STAT3 | Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF and other growth factors | ||
STAT4 | Carries out a dual function: signal transduction and activation of transcription. Involved in IL12 signaling This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of arthritis. T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. | ||
STAT5A:STAT5B | Carries out a dual function: signal transduction and activation of transcription. Regulates the expression of milk proteins during lactation. | ||
STAT6 | This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Carries out a dual function: signal t ransduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signaling. | ||
T | The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. | ||
TBP | General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Binding of TFIID to the TATA box is the initial transcriptional step of the pre-initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II. | ||
TFAP2C | Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. | ||
THAP1 | DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. | ||
ZBTB33 | This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). | ||
ZNF263 | Might play an important role in basic cellular processes as a transcriptional repressor. | ||
ZNF354C | May function as a transcription repressor. |