HEY1 (hes related family bHLH transcription factor with YRPW motif 1) - Rat Genome Database

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Gene: HEY1 (hes related family bHLH transcription factor with YRPW motif 1) Homo sapiens
Analyze
Symbol: HEY1
Name: hes related family bHLH transcription factor with YRPW motif 1
RGD ID: 735762
HGNC Page HGNC:4880
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II-specific DNA-binding transcription factor binding activity; and cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including negative regulation of Notch signaling pathway; negative regulation of smooth muscle cell differentiation; and negative regulation of transcription by RNA polymerase II. Predicted to be located in chromatin and cytoplasm. Predicted to be active in nucleus. Biomarker of hemangioblastoma and hemangiopericytoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: basic helix-loop-helix protein OAF1; BHLHb31; cardiovascular helix-loop-helix factor 2; CHF2; class B basic helix-loop-helix protein 31; hairy and enhancer of split-related protein 1; hairy-related transcription factor 1; hairy/enhancer-of-split related with YRPW motif 1; hairy/enhancer-of-split related with YRPW motif protein 1; HERP2; hes-related family bHLH transcription factor with YRPW motif 1; HES-related repressor protein 1; HES-related repressor protein 2; HESR1; hHRT1; HRT-1; MGC1274; NERP2; OAF1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38879,764,010 - 79,767,767 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl879,762,371 - 79,767,857 (-)EnsemblGRCh38hg38GRCh38
GRCh37880,676,245 - 80,680,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36880,838,800 - 80,842,653 (-)NCBINCBI36Build 36hg18NCBI36
Build 34880,838,800 - 80,842,559NCBI
Celera876,680,512 - 76,684,366 (-)NCBICelera
Cytogenetic Map8q21.13NCBI
HuRef876,165,779 - 76,169,632 (-)NCBIHuRef
CHM1_1880,728,484 - 80,732,338 (-)NCBICHM1_1
T2T-CHM13v2.0880,195,346 - 80,199,104 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3-methylfuran  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
azathioprine  (EXP)
baicalein  (EXP)
baicalin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
butyric acid  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
DAPT  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dipentyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
loliolide  (EXP)
manganese(II) chloride  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (ISO)
mitomycin C  (EXP)
nickel atom  (ISO)
niclosamide  (EXP,ISO)
nicotine  (EXP)
ouabain  (EXP)
oxaliplatin  (EXP,ISO)
ozone  (ISO)
Paeonol  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
propanal  (EXP)
pyrvinium  (EXP)
quercetin  (ISO)
quinolin-8-ol  (EXP)
rifampicin  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sotorasib  (EXP)
sulforaphane  (ISO)
sunitinib  (EXP)
tacedinaline  (EXP)
temozolomide  (EXP)
thapsigargin  (EXP)
Theaflavin 3,3'-digallate  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trametinib  (EXP)
trichostatin A  (EXP)
triptonide  (ISO)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IEP)
anterior/posterior axis specification  (ISO)
aortic valve morphogenesis  (ISS)
arterial endothelial cell differentiation  (ISS)
artery development  (ISO)
atrioventricular valve formation  (ISS)
atrioventricular valve morphogenesis  (ISO)
blood vessel development  (ISO)
blood vessel endothelial cell differentiation  (ISO)
cardiac conduction system development  (NAS)
cardiac epithelial to mesenchymal transition  (ISS)
cardiac septum morphogenesis  (ISS)
cardiac ventricle morphogenesis  (ISS)
cellular response to glucocorticoid stimulus  (ISO)
circulatory system development  (IBA)
comma-shaped body morphogenesis  (ISO)
dorsal aorta morphogenesis  (ISS)
endocardial cushion morphogenesis  (ISS)
endocardial cushion to mesenchymal transition involved in heart valve formation  (ISO)
epithelial to mesenchymal transition involved in endocardial cushion formation  (ISO)
establishment of epithelial cell polarity  (ISO)
heart trabecula formation  (ISS)
inner ear receptor cell stereocilium organization  (ISO)
labyrinthine layer blood vessel development  (ISS)
mesenchymal cell development  (ISO)
negative regulation of biomineral tissue development  (ISS)
negative regulation of DNA-templated transcription  (IDA)
negative regulation of gene expression  (ISO)
negative regulation of neuron differentiation  (IBA)
negative regulation of Notch signaling pathway  (IDA)
negative regulation of smooth muscle cell differentiation  (IDA)
negative regulation of transcription by RNA polymerase II  (IDA,IMP,ISS)
Notch signaling pathway  (IBA,IDA,IEA,ISO,ISS)
osteoblast development  (ISO)
outflow tract morphogenesis  (ISO)
positive regulation of osteoblast differentiation  (ISO)
positive regulation of transcription by RNA polymerase II  (ISS)
pulmonary valve morphogenesis  (ISS)
regulation of DNA-templated transcription  (IEA)
regulation of epithelial cell proliferation  (ISO)
regulation of inner ear auditory receptor cell differentiation  (ISO)
regulation of neurogenesis  (IBA)
regulation of vasculogenesis  (ISS)
renal vesicle development  (ISO)
S-shaped body morphogenesis  (ISO)
umbilical cord morphogenesis  (ISS)
ureteric bud morphogenesis  (ISO)
vasculogenesis  (ISO)
ventricular septum morphogenesis  (ISS)
ventricular trabecula myocardium morphogenesis  (ISO)

Cellular Component
chromatin  (ISA)
cytoplasm  (ISS)
nucleoplasm  (TAS)
nucleus  (IBA,IEA,ISS)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Delta-Notch--and then? Protein interactions and proposed modes of repression by Hes and Hey bHLH factors. Fischer A and Gessler M, Nucleic Acids Res. 2007;35(14):4583-96. Epub 2007 Jun 22.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. HES and HERP families: multiple effectors of the Notch signaling pathway. Iso T, etal., J Cell Physiol 2003 Mar;194(3):237-55.
4. Activation of multiple angiogenic signaling pathways in hemangiopericytoma. Pierscianek D, etal., Brain Tumor Pathol. 2016 Jul;33(3):200-8. doi: 10.1007/s10014-016-0256-6. Epub 2016 Mar 7.
5. Study of angiogenic signaling pathways in hemangioblastoma. Pierscianek D, etal., Neuropathology. 2017 Feb;37(1):3-11. doi: 10.1111/neup.12316. Epub 2016 Jul 7.
6. Si-Miao-Yong-An on promoting the maturation of Vasa Vasorum and stabilizing atherosclerotic plaque in ApoE-/- mice： An experimental study. Qi Z, etal., Biomed Pharmacother. 2019 Jun;114:108785. doi: 10.1016/j.biopha.2019.108785. Epub 2019 Mar 23.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Reduced Notch1 Cleavage Promotes the Development of Pulmonary Hypertension. Wang S, etal., Hypertension. 2022 Jan;79(1):79-92. doi: 10.1161/HYPERTENSIONAHA.120.16065. Epub 2021 Nov 5.
10. Notch pathway is activated in cell culture and mouse models of mutant SOD1-related familial amyotrophic lateral sclerosis, with suppression of its activation as an additional mechanism of neuroprotection for lithium and valproate. Wang SY, etal., Neuroscience. 2015 Aug 20;301:276-88. doi: 10.1016/j.neuroscience.2015.06.002. Epub 2015 Jun 8.
11. Coordinate Notch3-hairy-related transcription factor pathway regulation in response to arterial injury. Mediator role of platelet-derived growth factor and ERK. Wang W, etal., J Biol Chem 2002 Jun 28;277(26):23165-71.
12. Triggering of a Dll4-Notch1 loop impairs wound healing in diabetes. Zheng X, etal., Proc Natl Acad Sci U S A. 2019 Apr 2;116(14):6985-6994. doi: 10.1073/pnas.1900351116. Epub 2019 Mar 18.
Additional References at PubMed
PMID:8125298   PMID:10403790   PMID:10415358   PMID:10692439   PMID:10860664   PMID:10964718   PMID:11095750   PMID:11279181   PMID:11486044   PMID:11486045   PMID:11585921   PMID:11866539  
PMID:12453432   PMID:12477932   PMID:14702039   PMID:15231748   PMID:15314183   PMID:15342556   PMID:15485867   PMID:15489334   PMID:15680351   PMID:15684393   PMID:15749835   PMID:16043483  
PMID:16165016   PMID:16344560   PMID:17028039   PMID:17259303   PMID:17496152   PMID:17611704   PMID:18239137   PMID:18363832   PMID:18986983   PMID:19274049   PMID:19321451   PMID:19322201  
PMID:19369342   PMID:19453261   PMID:19802006   PMID:19857617   PMID:19917614   PMID:21290414   PMID:21454491   PMID:21873635   PMID:22034177   PMID:22036964   PMID:22983008   PMID:23226563  
PMID:23252872   PMID:23379739   PMID:23900217   PMID:24034695   PMID:24124145   PMID:24366871   PMID:24487962   PMID:24684754   PMID:25361534   PMID:25742474   PMID:25799559   PMID:25985737  
PMID:26068074   PMID:26186194   PMID:26582913   PMID:26786210   PMID:27129302   PMID:27134167   PMID:27544802   PMID:28473536   PMID:28514442   PMID:29146722   PMID:29596896   PMID:29909892  
PMID:30195713   PMID:30565566   PMID:32293074   PMID:32296183   PMID:32417395   PMID:32712748   PMID:33236952   PMID:33491747   PMID:33961781   PMID:34002044   PMID:34597346   PMID:35914814  
PMID:36396748   PMID:38166414  


Genomics

Comparative Map Data
HEY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38879,764,010 - 79,767,767 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl879,762,371 - 79,767,857 (-)EnsemblGRCh38hg38GRCh38
GRCh37880,676,245 - 80,680,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36880,838,800 - 80,842,653 (-)NCBINCBI36Build 36hg18NCBI36
Build 34880,838,800 - 80,842,559NCBI
Celera876,680,512 - 76,684,366 (-)NCBICelera
Cytogenetic Map8q21.13NCBI
HuRef876,165,779 - 76,169,632 (-)NCBIHuRef
CHM1_1880,728,484 - 80,732,338 (-)NCBICHM1_1
T2T-CHM13v2.0880,195,346 - 80,199,104 (-)NCBIT2T-CHM13v2.0
Hey1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3938,728,419 - 8,732,098 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl38,728,419 - 8,732,316 (-)EnsemblGRCm39 Ensembl
GRCm3838,663,359 - 8,667,038 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl38,663,359 - 8,667,256 (-)EnsemblGRCm38mm10GRCm38
MGSCv3738,663,359 - 8,667,038 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3638,646,432 - 8,650,059 (-)NCBIMGSCv36mm8
Celera38,666,683 - 8,670,362 (-)NCBICelera
Cytogenetic Map3A1NCBI
cM Map32.15NCBI
Hey1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8295,003,935 - 95,006,457 (+)NCBIGRCr8
mRatBN7.2293,096,605 - 93,100,316 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl293,095,498 - 93,100,312 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx299,620,837 - 99,623,361 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0297,741,864 - 97,744,388 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0292,798,743 - 92,801,267 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0295,320,147 - 95,322,701 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl295,320,283 - 95,322,696 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02115,062,450 - 115,064,660 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4295,174,030 - 95,176,430 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1295,119,909 - 95,121,344 (+)NCBI
Celera288,672,179 - 88,674,351 (+)NCBICelera
Cytogenetic Map2q23NCBI
Hey1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554441,498,675 - 1,500,945 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554441,498,444 - 1,502,099 (+)NCBIChiLan1.0ChiLan1.0
HEY1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2795,499,395 - 95,503,305 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1871,129,371 - 71,133,453 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0876,286,433 - 76,290,507 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1877,917,206 - 77,921,062 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl877,913,761 - 77,921,201 (-)Ensemblpanpan1.1panPan2
HEY1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12927,185,191 - 27,188,121 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2927,185,191 - 27,188,121 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2927,458,786 - 27,461,729 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02927,308,721 - 27,311,675 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2927,307,758 - 27,311,736 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12927,354,259 - 27,357,186 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02927,393,148 - 27,396,070 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02927,749,711 - 27,752,657 (-)NCBIUU_Cfam_GSD_1.0
Hey1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530351,893,528 - 51,897,480 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936871666,938 - 670,916 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936871666,961 - 670,910 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEY1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl456,859,663 - 56,863,788 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1456,859,640 - 56,863,807 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2462,080,177 - 62,084,026 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HEY1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1875,225,081 - 75,228,941 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl875,224,769 - 75,228,896 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603965,971,543 - 65,975,578 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hey1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474411,462,847 - 11,467,870 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474411,462,865 - 11,466,559 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HEY1
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1 copy number loss See cases [RCV000051117] Chr8:73519300..82655582 [GRCh38]
Chr8:74431535..83567817 [GRCh37]
Chr8:74594089..83730372 [NCBI36]
Chr8:8q21.11-21.13		 pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1 copy number loss See cases [RCV000054259] Chr8:73879385..85611466 [GRCh38]
Chr8:74791620..86523695 [GRCh37]
Chr8:74954174..86710947 [NCBI36]
Chr8:8q21.11-21.2		 pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3		 pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1		 pathogenic
NM_001040708.1(HEY1):c.562T>A (p.Phe188Ile) single nucleotide variant Malignant melanoma [RCV000068412] Chr8:79765553 [GRCh38]
Chr8:80677788 [GRCh37]
Chr8:80840343 [NCBI36]
Chr8:8q21.13		 not provided
NM_001040708.1(HEY1):c.561C>T (p.Val187=) single nucleotide variant Malignant melanoma [RCV000068413] Chr8:79765554 [GRCh38]
Chr8:80677789 [GRCh37]
Chr8:80840344 [NCBI36]
Chr8:8q21.13		 not provided
GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1 copy number loss See cases [RCV000133719] Chr8:74905308..81339951 [GRCh38]
Chr8:75817543..82252186 [GRCh37]
Chr8:75980098..82414741 [NCBI36]
Chr8:8q21.13		 pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1		 pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 copy number gain See cases [RCV000240367] Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13		 likely pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)x1 copy number loss See cases [RCV000445718] Chr8:75197438..81685526 [GRCh37]
Chr8:8q21.11-21.13		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1 copy number loss See cases [RCV000511429] Chr8:77751515..83516216 [GRCh37]
Chr8:8q21.11-21.13		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q21.13(chr8:80610748-80698854)x1 copy number loss not provided [RCV000682922] Chr8:80610748..80698854 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_012258.4(HEY1):c.124A>G (p.Thr42Ala) single nucleotide variant not specified [RCV004322416] Chr8:79767260 [GRCh38]
Chr8:80679495 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.110G>T (p.Gly37Val) single nucleotide variant not specified [RCV004317566] Chr8:79767274 [GRCh38]
Chr8:80679509 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
NM_012258.4(HEY1):c.332-116C>T single nucleotide variant not provided [RCV001612061] Chr8:79765887 [GRCh38]
Chr8:80678122 [GRCh37]
Chr8:8q21.13		 benign
GRCh37/hg19 8q21.12-21.13(chr8:79876744-83112711)x3 copy number gain not provided [RCV002472757] Chr8:79876744..83112711 [GRCh37]
Chr8:8q21.12-21.13		 uncertain significance
NM_012258.4(HEY1):c.332-300dup duplication not provided [RCV001595214] Chr8:79766065..79766066 [GRCh38]
Chr8:80678300..80678301 [GRCh37]
Chr8:8q21.13		 benign
NM_012258.4(HEY1):c.331+353del deletion not provided [RCV001597321] Chr8:79766298 [GRCh38]
Chr8:80678533 [GRCh37]
Chr8:8q21.13		 benign
NM_012258.4(HEY1):c.332-421A>G single nucleotide variant not provided [RCV001670586] Chr8:79766192 [GRCh38]
Chr8:80678427 [GRCh37]
Chr8:8q21.13		 benign
NM_012258.4(HEY1):c.*159A>T single nucleotide variant not provided [RCV001650716] Chr8:79765029 [GRCh38]
Chr8:80677264 [GRCh37]
Chr8:8q21.13		 benign
NM_012258.4(HEY1):c.331+386_331+392del deletion HEY1-related disorder [RCV003980795]|not provided [RCV001612779] Chr8:79766259..79766265 [GRCh38]
Chr8:80678494..80678500 [GRCh37]
Chr8:8q21.13		 benign
NM_012258.4(HEY1):c.331+21G>T single nucleotide variant not provided [RCV001613597] Chr8:79766630 [GRCh38]
Chr8:80678865 [GRCh37]
Chr8:8q21.13		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707) copy number loss not specified [RCV002053776] Chr8:77906471..88917707 [GRCh37]
Chr8:8q21.11-21.3		 pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526) copy number loss not specified [RCV002053774] Chr8:75197438..81685526 [GRCh37]
Chr8:8q21.11-21.13		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1 copy number loss Chromosome 8q21.11 deletion syndrome [RCV002279750] Chr8:75904944..87097083 [GRCh37]
Chr8:8q21.11-21.3		 pathogenic
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
NM_012258.4(HEY1):c.56T>C (p.Ile19Thr) single nucleotide variant not specified [RCV004102398] Chr8:79767608 [GRCh38]
Chr8:80679843 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.340G>A (p.Asp114Asn) single nucleotide variant not specified [RCV004207735] Chr8:79765763 [GRCh38]
Chr8:80677998 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.422T>C (p.Ile141Thr) single nucleotide variant not specified [RCV004210084] Chr8:79765681 [GRCh38]
Chr8:80677916 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.526G>A (p.Gly176Arg) single nucleotide variant not specified [RCV004209220] Chr8:79765577 [GRCh38]
Chr8:80677812 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.716C>T (p.Pro239Leu) single nucleotide variant not specified [RCV004110055] Chr8:79765387 [GRCh38]
Chr8:80677622 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.559C>T (p.His187Tyr) single nucleotide variant not specified [RCV004208286] Chr8:79765544 [GRCh38]
Chr8:80677779 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.676G>T (p.Ala226Ser) single nucleotide variant not specified [RCV004261974] Chr8:79765427 [GRCh38]
Chr8:80677662 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.631A>G (p.Thr211Ala) single nucleotide variant not specified [RCV004276445] Chr8:79765472 [GRCh38]
Chr8:80677707 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.349G>T (p.Ala117Ser) single nucleotide variant not specified [RCV004250835] Chr8:79765754 [GRCh38]
Chr8:80677989 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.127A>C (p.Thr43Pro) single nucleotide variant not specified [RCV004351865] Chr8:79767257 [GRCh38]
Chr8:80679492 [GRCh37]
Chr8:8q21.13		 uncertain significance
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 copy number gain not provided [RCV003484742] Chr8:79046933..102008860 [GRCh37]
Chr8:8q21.12-22.3		 pathogenic
NM_012258.4(HEY1):c.375G>A (p.Leu125=) single nucleotide variant HEY1-related disorder [RCV003954203]|not provided [RCV003435542] Chr8:79765728 [GRCh38]
Chr8:80677963 [GRCh37]
Chr8:8q21.13		 likely benign
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_012258.4(HEY1):c.33G>C (p.Ser11=) single nucleotide variant HEY1-related disorder [RCV003924184] Chr8:79767631 [GRCh38]
Chr8:80679866 [GRCh37]
Chr8:8q21.13		 likely benign
NM_012258.4(HEY1):c.384G>A (p.Arg128=) single nucleotide variant HEY1-related disorder [RCV003977155] Chr8:79765719 [GRCh38]
Chr8:80677954 [GRCh37]
Chr8:8q21.13		 likely benign
NM_012258.4(HEY1):c.854C>T (p.Thr285Met) single nucleotide variant HEY1-related disorder [RCV003932299] Chr8:79765249 [GRCh38]
Chr8:80677484 [GRCh37]
Chr8:8q21.13		 likely benign
NM_012258.4(HEY1):c.888T>C (p.Pro296=) single nucleotide variant HEY1-related disorder [RCV003962242] Chr8:79765215 [GRCh38]
Chr8:80677450 [GRCh37]
Chr8:8q21.13		 likely benign
NM_012258.4(HEY1):c.18C>G (p.Pro6=) single nucleotide variant HEY1-related disorder [RCV003911548] Chr8:79767646 [GRCh38]
Chr8:80679881 [GRCh37]
Chr8:8q21.13		 benign
NM_012258.4(HEY1):c.30C>T (p.Ser10=) single nucleotide variant HEY1-related disorder [RCV003907095] Chr8:79767634 [GRCh38]
Chr8:80679869 [GRCh37]
Chr8:8q21.13		 likely benign
NM_012258.4(HEY1):c.811T>C (p.Phe271Leu) single nucleotide variant HEY1-related disorder [RCV003894778] Chr8:79765292 [GRCh38]
Chr8:80677527 [GRCh37]
Chr8:8q21.13		 benign
NM_012258.4(HEY1):c.396A>C (p.Ala132=) single nucleotide variant HEY1-related disorder [RCV003951720] Chr8:79765707 [GRCh38]
Chr8:80677942 [GRCh37]
Chr8:8q21.13		 likely benign
NM_012258.4(HEY1):c.736T>A (p.Ser246Thr) single nucleotide variant not specified [RCV004396914] Chr8:79765367 [GRCh38]
Chr8:80677602 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.578C>T (p.Pro193Leu) single nucleotide variant not specified [RCV004396912] Chr8:79765525 [GRCh38]
Chr8:80677760 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.715C>T (p.Pro239Ser) single nucleotide variant not specified [RCV004396913] Chr8:79765388 [GRCh38]
Chr8:80677623 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.277A>T (p.Ile93Phe) single nucleotide variant not specified [RCV004396911] Chr8:79766705 [GRCh38]
Chr8:80678940 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.766T>C (p.Ser256Pro) single nucleotide variant not specified [RCV004630521] Chr8:79765337 [GRCh38]
Chr8:80677572 [GRCh37]
Chr8:8q21.13		 uncertain significance
NM_012258.4(HEY1):c.755C>T (p.Pro252Leu) single nucleotide variant not specified [RCV004630519] Chr8:79765348 [GRCh38]
Chr8:80677583 [GRCh37]
Chr8:8q21.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2075
Count of miRNA genes:823
Interacting mature miRNAs:955
Transcripts:ENST00000337919, ENST00000354724, ENST00000435063, ENST00000518733, ENST00000519075, ENST00000521111, ENST00000523531, ENST00000523976
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
HEY1_2154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37880,676,236 - 80,677,067UniSTSGRCh37
Build 36880,838,791 - 80,839,622RGDNCBI36
Celera876,680,503 - 76,681,334RGD
HuRef876,165,770 - 76,166,601UniSTS
RH12790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37880,676,302 - 80,676,465UniSTSGRCh37
Build 36880,838,857 - 80,839,020RGDNCBI36
Celera876,680,569 - 76,680,732RGD
Cytogenetic Map8q21UniSTS
HuRef876,165,836 - 76,165,999UniSTS
GeneMap99-GB4 RH Map8399.46UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2250 4971 1726 2350 6 624 1843 465 2268 7194 6364 49 3732 1 852 1744 1616 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001040708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF176422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF232239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF254637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF311883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ272214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP283540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA561783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R61374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000337919   ⟹   ENSP00000338272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,764,013 - 79,767,857 (-)Ensembl
Ensembl Acc Id: ENST00000354724   ⟹   ENSP00000346761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,764,010 - 79,767,767 (-)Ensembl
Ensembl Acc Id: ENST00000435063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,764,049 - 79,766,508 (-)Ensembl
Ensembl Acc Id: ENST00000518733   ⟹   ENSP00000429705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,765,431 - 79,767,472 (-)Ensembl
Ensembl Acc Id: ENST00000519075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,764,044 - 79,767,836 (-)Ensembl
Ensembl Acc Id: ENST00000521111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,764,021 - 79,767,820 (-)Ensembl
Ensembl Acc Id: ENST00000523531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,764,033 - 79,767,857 (-)Ensembl
Ensembl Acc Id: ENST00000523976   ⟹   ENSP00000429792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,764,011 - 79,766,475 (-)Ensembl
Ensembl Acc Id: ENST00000674160   ⟹   ENSP00000501529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,764,033 - 79,767,849 (-)Ensembl
Ensembl Acc Id: ENST00000674177   ⟹   ENSP00000501471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,762,371 - 79,767,838 (-)Ensembl
Ensembl Acc Id: ENST00000674192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,764,720 - 79,766,475 (-)Ensembl
Ensembl Acc Id: ENST00000674295   ⟹   ENSP00000501320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,762,371 - 79,767,462 (-)Ensembl
Ensembl Acc Id: ENST00000674358   ⟹   ENSP00000501370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,764,033 - 79,767,615 (-)Ensembl
Ensembl Acc Id: ENST00000674418   ⟹   ENSP00000501342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,762,371 - 79,767,542 (-)Ensembl
Ensembl Acc Id: ENST00000674439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl879,764,033 - 79,767,615 (-)Ensembl
RefSeq Acc Id: NM_001040708   ⟹   NP_001035798
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38879,764,010 - 79,767,767 (-)NCBI
GRCh37880,676,245 - 80,680,098 (-)ENTREZGENE
Build 36880,838,800 - 80,842,653 (-)NCBI Archive
HuRef876,165,779 - 76,169,632 (-)ENTREZGENE
CHM1_1880,728,484 - 80,732,338 (-)NCBI
T2T-CHM13v2.0880,195,346 - 80,199,104 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282851   ⟹   NP_001269780
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38879,764,010 - 79,766,475 (-)NCBI
HuRef876,165,779 - 76,169,632 (-)NCBI
CHM1_1880,728,484 - 80,730,950 (-)NCBI
T2T-CHM13v2.0880,195,346 - 80,197,812 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012258   ⟹   NP_036390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38879,764,010 - 79,767,767 (-)NCBI
GRCh37880,676,245 - 80,680,098 (-)NCBI
Build 36880,838,800 - 80,842,653 (-)NCBI Archive
HuRef876,165,779 - 76,169,632 (-)ENTREZGENE
CHM1_1880,728,484 - 80,732,338 (-)NCBI
T2T-CHM13v2.0880,195,346 - 80,199,104 (-)NCBI
Sequence:
RefSeq Acc Id: NP_036390   ⟸   NM_012258
- Peptide Label: isoform a
- UniProtKB: Q8NAM2 (UniProtKB/Swiss-Prot),   Q5TZS3 (UniProtKB/Swiss-Prot),   B2R883 (UniProtKB/Swiss-Prot),   Q9NYP4 (UniProtKB/Swiss-Prot),   Q9Y5J3 (UniProtKB/Swiss-Prot),   B3KQB8 (UniProtKB/TrEMBL),   Q96PR6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035798   ⟸   NM_001040708
- Peptide Label: isoform b
- UniProtKB: B3KQB8 (UniProtKB/TrEMBL),   Q96PR6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269780   ⟸   NM_001282851
- Peptide Label: isoform c
- UniProtKB: B4DEI9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000501342   ⟸   ENST00000674418
Ensembl Acc Id: ENSP00000501370   ⟸   ENST00000674358
Ensembl Acc Id: ENSP00000501320   ⟸   ENST00000674295
Ensembl Acc Id: ENSP00000501471   ⟸   ENST00000674177
Ensembl Acc Id: ENSP00000501529   ⟸   ENST00000674160
Ensembl Acc Id: ENSP00000429705   ⟸   ENST00000518733
Ensembl Acc Id: ENSP00000338272   ⟸   ENST00000337919
Ensembl Acc Id: ENSP00000429792   ⟸   ENST00000523976
Ensembl Acc Id: ENSP00000346761   ⟸   ENST00000354724
Protein Domains
bHLH   Orange

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5J3-F1-model_v2 AlphaFold Q9Y5J3 1-304 view protein structure

Promoters
RGD ID:7213589
Promoter ID:EPDNEW_H12540
Type:initiation region
Name:HEY1_1
Description:hes related family bHLH transcription factor with YRPW motif1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12541  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38879,767,767 - 79,767,827EPDNEW
RGD ID:6806796
Promoter ID:HG_KWN:61571
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:UC010LZQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36880,840,791 - 80,842,232 (-)MPROMDB
RGD ID:6806795
Promoter ID:HG_KWN:61572
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001040708,   NM_012258
Position:
Human AssemblyChrPosition (strand)Source
Build 36880,842,436 - 80,843,542 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4880 AgrOrtholog
COSMIC HEY1 COSMIC
Ensembl Genes ENSG00000164683 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000337919 ENTREZGENE
  ENST00000337919.9 UniProtKB/Swiss-Prot
  ENST00000354724 ENTREZGENE
  ENST00000354724.8 UniProtKB/Swiss-Prot
  ENST00000435063 ENTREZGENE
  ENST00000518733.1 UniProtKB/TrEMBL
  ENST00000674160.1 UniProtKB/TrEMBL
  ENST00000674177.1 UniProtKB/TrEMBL
  ENST00000674295.1 UniProtKB/TrEMBL
  ENST00000674358.1 UniProtKB/TrEMBL
  ENST00000674418.1 UniProtKB/TrEMBL
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.980 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164683 GTEx
HGNC ID HGNC:4880 ENTREZGENE
Human Proteome Map HEY1 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HES_HEY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Orange_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23462 UniProtKB/Swiss-Prot
NCBI Gene 23462 ENTREZGENE
OMIM 602953 OMIM
PANTHER BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR, HES-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAIRY/ENHANCER-OF-SPLIT RELATED WITH YRPW MOTIF PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hairy_orange UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29258 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORANGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORANGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Orange domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47459 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6I8PIY0_HUMAN UniProtKB/TrEMBL
  A0A6I8PRC2_HUMAN UniProtKB/TrEMBL
  A0A6I8PRS3_HUMAN UniProtKB/TrEMBL
  A0A6I8PU82_HUMAN UniProtKB/TrEMBL
  B2R883 ENTREZGENE
  B3KQB8 ENTREZGENE, UniProtKB/TrEMBL
  B4DEI9 ENTREZGENE, UniProtKB/TrEMBL
  E5RHK6_HUMAN UniProtKB/TrEMBL
  HEY1_HUMAN UniProtKB/Swiss-Prot
  Q5TZS3 ENTREZGENE
  Q8NAM2 ENTREZGENE
  Q96PR6 ENTREZGENE, UniProtKB/TrEMBL
  Q9NYP4 ENTREZGENE
  Q9Y5J3 ENTREZGENE
UniProt Secondary B2R883 UniProtKB/Swiss-Prot
  Q5TZS3 UniProtKB/Swiss-Prot
  Q8NAM2 UniProtKB/Swiss-Prot
  Q9NYP4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 HEY1  hes related family bHLH transcription factor with YRPW motif 1  HEY1  hes-related family bHLH transcription factor with YRPW motif 1  Symbol and/or name change 5135510 APPROVED
2013-10-22 HEY1  hes-related family bHLH transcription factor with YRPW motif 1  HEY1  hairy/enhancer-of-split related with YRPW motif 1  Symbol and/or name change 5135510 APPROVED