HSF1 (heat shock transcription factor 1) - Rat Genome Database

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Gene: HSF1 (heat shock transcription factor 1) Homo sapiens
Analyze
Symbol: HSF1
Name: heat shock transcription factor 1
RGD ID: 730995
HGNC Page HGNC
Description: Enables several functions, including DNA binding activity; DNA-binding transcription repressor activity, RNA polymerase II-specific; and Hsp90 protein binding activity. Involved in several processes, including cellular response to diamide; cellular response to metal ion; and regulation of nucleobase-containing compound metabolic process. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in several cellular components, including kinetochore; microtubule cytoskeleton; and nucleus. Part of chaperone complex and ribonucleoprotein complex. Implicated in Huntington's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: heat shock factor protein 1; HSF 1; HSTF 1; HSTF1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,291,591 - 144,314,720 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,291,603 - 144,314,720 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,515,286 - 145,538,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,486,078 - 145,509,193 (+)NCBINCBI36hg18NCBI36
Build 348145,486,090 - 145,509,187NCBI
Celera8141,707,360 - 141,713,153 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,629,839 - 140,652,904 (+)NCBIHuRef
CHM1_18145,553,452 - 145,576,661 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(20S)-ginsenoside Rg3  (EXP)
(R)-adrenaline  (ISO)
(R,S)-Scoulerine  (EXP)
(Z)-ligustilide  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
1-naphthyl isothiocyanate  (EXP)
15-deoxy-Delta(12,14)-prostaglandin J2  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-nitrofluorene  (ISO)
2-tert-butylhydroquinone  (EXP)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxyphenyl retinamide  (EXP)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (EXP)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
acetate ester  (EXP)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
acrylamide  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
albendazole  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
allyl alcohol  (EXP)
alpha-D-galactose  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphibole asbestos  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
apratoxin A  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
Aurin  (EXP)
azathioprine  (EXP)
Bardoxolone methyl  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
C.I. Natural Red 20  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (EXP)
Calcimycin  (EXP)
capsaicin  (ISO)
carbamazepine  (EXP)
carbonyl cyanide p-trifluoromethoxyphenylhydrazone  (EXP)
ceftazidime pentahydrate  (EXP)
celastrol  (EXP,ISO)
chelidonine  (EXP)
chlorphenamine  (EXP)
cisplatin  (EXP)
clotrimazole  (EXP)
cobalt atom  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
curcumin  (EXP,ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
cyproheptadine  (EXP)
D-glucose  (EXP)
dactolisib  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (EXP,ISO)
diltiazem  (EXP)
dioxygen  (EXP)
disodium selenite  (EXP)
doxorubicin  (EXP,ISO)
ebselen  (EXP)
elesclomol  (EXP)
epoxomicin  (EXP)
etacrynic acid  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenbendazole  (EXP)
fenofibrate  (ISO)
flavonoids  (ISO)
formaldehyde  (EXP)
fotemustine  (EXP)
fulvestrant  (ISO)
furosemide  (EXP)
galactose  (EXP)
geldanamycin  (EXP)
geneticin  (EXP)
gentamycin  (ISO)
glucose  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hemin  (EXP)
homocysteic acid  (ISO)
hydrogen chloride  (ISO)
hydrogen peroxide  (EXP,ISO)
ibuprofen  (EXP)
imipramine  (EXP)
indole-3-methanol  (EXP)
indometacin  (EXP,ISO)
L-serine  (EXP)
lactacystin  (EXP)
lead diacetate  (ISO)
linalool  (EXP)
LY294002  (EXP)
maneb  (ISO)
melatonin  (ISO)
menadione  (EXP)
mercury atom  (EXP)
mercury dichloride  (EXP)
mercury(0)  (EXP)
mesalamine  (EXP)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
mifepristone  (ISO)
mometasone furoate  (EXP)
monohexyl phthalate  (EXP)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel sulfate  (EXP)
nifedipine  (EXP)
nimesulide  (EXP)
nitrofurantoin  (EXP)
oxaprozin  (EXP)
oxyphenbutazone  (EXP)
ozone  (EXP)
papaverine  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
parthenolide  (EXP)
PD 0325901  (EXP)
pevonedistat  (EXP)
Phenoxybenzamine  (EXP)
phenprocoumon  (EXP)
phosphocholine  (EXP)
phosphorylcholine chloride  (EXP)
piperidones  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
PLX-4720  (EXP)
promegestone  (EXP)
promethazine  (EXP)
pyocyanine  (ISO)
pyridine  (EXP)
quercetin  (EXP,ISO)
resveratrol  (EXP)
rivastigmine  (EXP)
rotenone  (EXP)
SB 203580  (ISO)
Securinine  (EXP)
senecionine  (EXP)
Shikonin  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
silver(1+) nitrate  (EXP)
simvastatin  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
Sodium salicylate  (EXP)
solanesol  (EXP)
sphingosine 1-phosphate  (EXP)
sulforaphane  (EXP)
sulindac  (EXP)
sunitinib  (EXP)
tanespimycin  (EXP)
teprenone  (ISO)
teriflunomide  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thiazoles  (EXP)
thioacetamide  (ISO)
thiopental  (EXP)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
withaferin A  (EXP)
wortmannin  (EXP)
zinc atom  (EXP)
zinc oxide  (EXP)
zinc pyrithione  (EXP)
zinc sulfate  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular protein-containing complex assembly  (IDA)
cellular response to amino acid stimulus  (ISO)
cellular response to angiotensin  (IEA,ISO)
cellular response to cadmium ion  (IDA)
cellular response to copper ion  (IDA)
cellular response to diamide  (IDA)
cellular response to estradiol stimulus  (IEA,ISO)
cellular response to gamma radiation  (IDA)
cellular response to heat  (IDA,IMP,ISO)
cellular response to hydrogen peroxide  (IEA,ISO)
cellular response to L-glutamine  (IEA,ISO)
cellular response to lipopolysaccharide  (IEA,ISO)
cellular response to nitroglycerin  (IEA,ISO)
cellular response to organic cyclic compound  (ISO)
cellular response to potassium ion  (IEA,ISO)
cellular response to radiation  (ISO)
cellular response to sodium arsenite  (IDA)
cellular response to unfolded protein  (IDA)
cellular response to xenobiotic stimulus  (ISO)
defense response  (IEA,ISO)
DNA repair  (IEA)
embryonic placenta development  (ISO)
embryonic process involved in female pregnancy  (ISO)
female meiotic nuclear division  (ISO)
in utero embryonic development  (ISO)
MAPK cascade  (IDA)
mRNA processing  (IEA)
mRNA transcription  (IDA)
mRNA transport  (IEA)
negative regulation of cardiac muscle cell apoptotic process  (IEA,ISO)
negative regulation of cell population proliferation  (ISO)
negative regulation of double-strand break repair via nonhomologous end joining  (IMP)
negative regulation of gene expression  (IEA,ISO)
negative regulation of inclusion body assembly  (IEA,ISO)
negative regulation of neuron death  (IEA,ISO)
negative regulation of protein-containing complex assembly  (IMP)
negative regulation of transcription by RNA polymerase II  (IDA)
negative regulation of tumor necrosis factor production  (ISO)
positive regulation of apoptotic DNA fragmentation  (IEA,ISO)
positive regulation of cell population proliferation  (IMP)
positive regulation of cold-induced thermogenesis  (ISS)
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IEA,ISO)
positive regulation of DNA-binding transcription factor activity  (IMP)
positive regulation of gene expression  (IEA,ISO)
positive regulation of inclusion body assembly  (IEA,ISO)
positive regulation of macrophage differentiation  (IMP)
positive regulation of microtubule binding  (IEA,ISO)
positive regulation of mitotic cell cycle  (IMP)
positive regulation of mRNA polyadenylation  (IMP)
positive regulation of multicellular organism growth  (ISO)
positive regulation of transcription by RNA polymerase II  (IDA)
positive regulation of transcription from RNA polymerase II promoter in response to heat stress  (IDA)
positive regulation of tyrosine phosphorylation of STAT protein  (IEA,ISO)
protein phosphorylation  (ISO)
regulation of cellular response to heat  (IDA)
regulation of transcription by RNA polymerase II  (IBA)
regulation of transcription, DNA-templated  (IEA)
response to activity  (IEA,ISO)
response to amino acid  (ISO)
response to estradiol  (ISO)
response to heat  (ISO)
response to hypobaric hypoxia  (IEA,ISO)
response to lipopolysaccharide  (ISO)
response to nutrient  (IEA,ISO)
response to organic cyclic compound  (ISO)
response to organonitrogen compound  (ISO)
response to peptide  (ISO)
response to psychosocial stress  (IEA,ISO)
response to testosterone  (IEA,ISO)
spermatogenesis  (ISO)

Cellular Component

References

References - curated
1. Chiang MC, etal., Hum Mol Genet. 2009 Aug 15;18(16):2929-42. doi: 10.1093/hmg/ddp230. Epub 2009 May 14.
2. Cohen J, etal., J Endourol. 2013 Mar;27(3):343-8. doi: 10.1089/end.2012.0194. Epub 2013 Feb 25.
3. Fan-xin M, etal., Exp Physiol. 2012 Jun;97(6):730-40. doi: 10.1113/expphysiol.2011.064204. Epub 2012 Mar 16.
4. Fujimoto M, etal., J Biol Chem. 2005 Oct 14;280(41):34908-16. Epub 2005 Jul 28.
5. GOA_HUMAN data from the GO Consortium
6. Jiang YQ, etal., Brain Res. 2013 Jun 26;1519:105-11. doi: 10.1016/j.brainres.2013.04.059. Epub 2013 May 9.
7. Kaija H, etal., PLoS One. 2015 May 21;10(5):e0127854. doi: 10.1371/journal.pone.0127854. eCollection 2015.
8. Kim KS, etal., Resuscitation. 2013 Sep;84(9):1285-90. doi: 10.1016/j.resuscitation.2013.03.019. Epub 2013 Mar 22.
9. Lam KK, etal., Eur J Pharmacol. 2013 Jan 15;699(1-3):67-73. doi: 10.1016/j.ejphar.2012.11.044. Epub 2012 Dec 5.
10. Lawler JM, etal., Med Sci Sports Exerc. 2012 Apr;44(4):600-9. doi: 10.1249/MSS.0b013e31823ab37a.
11. Li W, etal., Int Immunopharmacol. 2013 Jun;16(2):248-53. doi: 10.1016/j.intimp.2013.02.022. Epub 2013 Mar 14.
12. Liu F, etal., Mol Reprod Dev. 2011 Apr;78(4):283-91. doi: 10.1002/mrd.21304. Epub 2011 Apr 8.
13. Ma H, etal., J Mol Cell Cardiol. 2012 Jun;52(6):1282-90. doi: 10.1016/j.yjmcc.2012.02.011. Epub 2012 Mar 6.
14. Maheshwari M, etal., Hum Mol Genet. 2014 May 15;23(10):2737-51. doi: 10.1093/hmg/ddt667. Epub 2013 Dec 30.
15. Marunouchi T, etal., J Pharmacol Sci. 2013;123(4):336-46. Epub 2013 Nov 27.
16. Melhem H, etal., Gut. 2015 Jan 20. pii: gutjnl-2014-307030. doi: 10.1136/gutjnl-2014-307030.
17. RGD automated import pipeline for gene-chemical interactions
18. Sun X, etal., Neurobiol Dis. 2015 Jun 9;82:123-131. doi: 10.1016/j.nbd.2015.06.001.
19. Syam AF, etal., Acta Med Indones. 2011 Oct;43(4):243-8.
20. Thakur P and Nehru B, Neurochem Int. 2014 Sep;75:1-10. doi: 10.1016/j.neuint.2014.05.002. Epub 2014 May 19.
21. Thakur P and Nehru B, Neuropharmacology. 2014 Apr;79:190-200. doi: 10.1016/j.neuropharm.2013.11.016. Epub 2013 Dec 1.
22. Wang X, etal., J Neurosci. 2014 May 21;34(21):7253-65. doi: 10.1523/JNEUROSCI.4936-13.2014.
23. Wang YL, etal., J Ethnopharmacol. 2015 Mar 13;162:168-75. doi: 10.1016/j.jep.2014.12.062. Epub 2015 Jan 5.
24. Xu T, etal., Biochem Biophys Res Commun. 2015 May 8;460(3):622-7. doi: 10.1016/j.bbrc.2015.03.079. Epub 2015 Mar 21.
25. Zhao R, etal., J Leukoc Biol. 2014 Jun;95(6):941-9. doi: 10.1189/jlb.0513262. Epub 2014 Feb 4.
Additional References at PubMed
PMID:1628823   PMID:1871105   PMID:1871106   PMID:7639722   PMID:7760831   PMID:7935471   PMID:8125298   PMID:8455624   PMID:8856972   PMID:8926278   PMID:8940068   PMID:8946918  
PMID:8972228   PMID:9121459   PMID:9155018   PMID:9222587   PMID:9222609   PMID:9325337   PMID:9341107   PMID:9359875   PMID:9499401   PMID:9535852   PMID:9649501   PMID:9699716  
PMID:9727490   PMID:9880553   PMID:10359787   PMID:10413683   PMID:10561509   PMID:10747973   PMID:10821850   PMID:10867642   PMID:11005381   PMID:11162511   PMID:11447121   PMID:11486022  
PMID:11514557   PMID:11527157   PMID:11583998   PMID:11801594   PMID:11820785   PMID:11851405   PMID:11877455   PMID:11994473   PMID:12468538   PMID:12477932   PMID:12621024   PMID:12646186  
PMID:12659875   PMID:12665592   PMID:12813038   PMID:12865437   PMID:12878154   PMID:12917326   PMID:14532117   PMID:14623809   PMID:14699143   PMID:14702039   PMID:14707147   PMID:14751250  
PMID:14766217   PMID:14960326   PMID:15016915   PMID:15081420   PMID:15152009   PMID:15302935   PMID:15358168   PMID:15364926   PMID:15457556   PMID:15489334   PMID:15576338   PMID:15661742  
PMID:15702990   PMID:15760475   PMID:15777846   PMID:16169070   PMID:16278218   PMID:16293251   PMID:16303760   PMID:16344560   PMID:16382149   PMID:16428449   PMID:16525201   PMID:16554823  
PMID:16624816   PMID:16678833   PMID:17081983   PMID:17213196   PMID:17216044   PMID:17244614   PMID:17273789   PMID:17622316   PMID:17873279   PMID:17884799   PMID:17889646   PMID:17897941  
PMID:17922035   PMID:18029348   PMID:18059335   PMID:18211895   PMID:18245447   PMID:18286539   PMID:18398426   PMID:18451878   PMID:18457423   PMID:18474607   PMID:18599869   PMID:18657505  
PMID:18682744   PMID:18725048   PMID:18757733   PMID:18794143   PMID:18813348   PMID:19097133   PMID:19129477   PMID:19221897   PMID:19229036   PMID:19274049   PMID:19335068   PMID:19338268  
PMID:19401454   PMID:19486883   PMID:19517141   PMID:19597476   PMID:19609719   PMID:19668225   PMID:19684601   PMID:19758120   PMID:19793920   PMID:19817876   PMID:19844581   PMID:20098725  
PMID:20152833   PMID:20176657   PMID:20185824   PMID:20198330   PMID:20353823   PMID:20360068   PMID:20396959   PMID:20459615   PMID:20565132   PMID:20620219   PMID:20630999   PMID:20802198  
PMID:20834230   PMID:20885985   PMID:20941531   PMID:21044828   PMID:21078672   PMID:21079652   PMID:21085490   PMID:21098017   PMID:21155232   PMID:21253609   PMID:21266308   PMID:21299508  
PMID:21330448   PMID:21353370   PMID:21361146   PMID:21459854   PMID:21480956   PMID:21557666   PMID:21597468   PMID:21784850   PMID:21873635   PMID:21879256   PMID:21883218   PMID:21988832  
PMID:22009757   PMID:22018489   PMID:22042860   PMID:22094256   PMID:22266185   PMID:22347460   PMID:22367781   PMID:22443056   PMID:22510478   PMID:22748127   PMID:22768106   PMID:22863008  
PMID:22863883   PMID:22939629   PMID:22940245   PMID:22945628   PMID:22981541   PMID:23022381   PMID:23121022   PMID:23180277   PMID:23192351   PMID:23252346   PMID:23264262   PMID:23272104  
PMID:23293686   PMID:23321918   PMID:23344957   PMID:23349863   PMID:23352416   PMID:23386620   PMID:23388456   PMID:23510323   PMID:23511056   PMID:23542779   PMID:23587601   PMID:23587726  
PMID:23733891   PMID:23824909   PMID:23861773   PMID:23869022   PMID:23902341   PMID:23959823   PMID:23959860   PMID:24002609   PMID:24123326   PMID:24126052   PMID:24130164   PMID:24165036  
PMID:24256636   PMID:24361604   PMID:24384723   PMID:24465598   PMID:24469056   PMID:24478344   PMID:24504023   PMID:24516381   PMID:24581496   PMID:24619424   PMID:24726381   PMID:24763051  
PMID:24800749   PMID:24831003   PMID:24954509   PMID:25036637   PMID:25083868   PMID:25194503   PMID:25199502   PMID:25199534   PMID:25204655   PMID:25205676   PMID:25280995   PMID:25310819  
PMID:25324391   PMID:25355627   PMID:25380824   PMID:25406061   PMID:25425574   PMID:25430510   PMID:25437552   PMID:25537516   PMID:25679764   PMID:25720964   PMID:25762445   PMID:25816751  
PMID:25905985   PMID:25963659   PMID:25982096   PMID:26003728   PMID:26010766   PMID:26108999   PMID:26157141   PMID:26159920   PMID:26184999   PMID:26186194   PMID:26193369   PMID:26223813  
PMID:26298773   PMID:26320184   PMID:26344102   PMID:26359349   PMID:26361762   PMID:26427350   PMID:26473447   PMID:26496226   PMID:26496610   PMID:26503960   PMID:26504030   PMID:26511079  
PMID:26517842   PMID:26597576   PMID:26727489   PMID:26727490   PMID:26754925   PMID:26785146   PMID:27043084   PMID:27173435   PMID:27189267   PMID:27225066   PMID:27296951   PMID:27354066  
PMID:27487129   PMID:27536004   PMID:27553423   PMID:27713164   PMID:27755964   PMID:27803431   PMID:27827315   PMID:27846364   PMID:27882499   PMID:27922674   PMID:27997575   PMID:28049024  
PMID:28091697   PMID:28104499   PMID:28194040   PMID:28241425   PMID:28369628   PMID:28370690   PMID:28415561   PMID:28462912   PMID:28473536   PMID:28482903   PMID:28487934   PMID:28514442  
PMID:28515276   PMID:28561026   PMID:28592492   PMID:28618124   PMID:28724966   PMID:28887499   PMID:28889000   PMID:28890254   PMID:29059166   PMID:29158484   PMID:29247221   PMID:29268782  
PMID:29278438   PMID:29316077   PMID:29339121   PMID:29391353   PMID:29494616   PMID:29606348   PMID:29632240   PMID:29661921   PMID:29725069   PMID:29730197   PMID:29733381   PMID:29774376  
PMID:29799521   PMID:29898735   PMID:29997244   PMID:30305397   PMID:30309986   PMID:30326922   PMID:30328318   PMID:30563406   PMID:30566508   PMID:30605679   PMID:30631061   PMID:30649429  
PMID:30796345   PMID:30843645   PMID:30887707   PMID:31044428   PMID:31109102   PMID:31244938   PMID:31409638   PMID:31540997   PMID:31561952   PMID:31567483   PMID:31699156   PMID:31744878  
PMID:31874177   PMID:31899217   PMID:32015439   PMID:32097779   PMID:32184357   PMID:32297212   PMID:32297214   PMID:32302062   PMID:32334836   PMID:32396525   PMID:32490574   PMID:32571938  
PMID:32607595   PMID:32814053   PMID:32838807   PMID:32861670   PMID:32905882   PMID:32959058   PMID:33059972   PMID:33122521   PMID:33208463   PMID:33318173   PMID:33377734   PMID:33461973  
PMID:33493517   PMID:33547159   PMID:33989081   PMID:34056708   PMID:34067147   PMID:34188043  


Genomics

Comparative Map Data
HSF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,291,591 - 144,314,720 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,291,603 - 144,314,720 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,515,286 - 145,538,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,486,078 - 145,509,193 (+)NCBINCBI36hg18NCBI36
Build 348145,486,090 - 145,509,187NCBI
Celera8141,707,360 - 141,713,153 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,629,839 - 140,652,904 (+)NCBIHuRef
CHM1_18145,553,452 - 145,576,661 (+)NCBICHM1_1
Hsf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,361,562 - 76,385,355 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,361,622 - 76,386,113 (+)Ensembl
GRCm381576,477,362 - 76,501,155 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,477,422 - 76,501,913 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,307,875 - 76,331,402 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,304,700 - 76,328,227 (+)NCBImm8
Celera1577,977,956 - 78,001,512 (+)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1535.95NCBI
Hsf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,196,040 - 108,223,011 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl7108,196,056 - 108,223,011 (+)Ensembl
Rnor_6.07117,538,523 - 117,565,478 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,538,523 - 117,565,478 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,526,154 - 117,553,109 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,524,211 - 114,551,166 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,580,681 - 114,585,056 (+)NCBI
Celera7104,547,683 - 104,574,508 (+)NCBICelera
Cytogenetic Map7q34NCBI
Hsf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,907,265 - 2,932,351 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,907,265 - 2,932,352 (+)NCBIChiLan1.0ChiLan1.0
HSF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,062,137 - 144,067,725 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,062,137 - 144,067,866 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,055,310 - 141,078,360 (+)NCBIMhudiblu_PPA_v0panPan3
HSF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,724,741 - 37,745,259 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,724,759 - 37,745,252 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,688,336 - 37,708,839 (+)NCBI
ROS_Cfam_1.01338,200,982 - 38,221,480 (+)NCBI
UMICH_Zoey_3.11337,893,218 - 37,913,632 (+)NCBI
UNSW_CanFamBas_1.01338,001,763 - 38,022,270 (+)NCBI
UU_Cfam_GSD_1.01338,478,086 - 38,498,596 (+)NCBI
Hsf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303501,635 - 524,700 (-)NCBI
SpeTri2.0NW_0049364707,927,734 - 7,950,805 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HSF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4461,559 - 486,473 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14463,531 - 486,483 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24610,323 - 633,482 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HSF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,503,836 - 138,529,562 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,503,831 - 138,529,165 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660391,334,097 - 1,360,855 (-)NCBIVero_WHO_p1.0
Hsf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,536,818 - 12,562,643 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH79683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,538,097 - 145,538,360UniSTSGRCh37
Build 368145,508,905 - 145,509,168RGDNCBI36
Celera8141,712,865 - 141,713,128RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,652,616 - 140,652,879UniSTS
GeneMap99-GB4 RH Map8563.95UniSTS
D15S621E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,530,485 - 145,530,681UniSTSGRCh37
Build 368145,501,293 - 145,501,489RGDNCBI36
Celera8141,705,253 - 141,705,449RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,645,054 - 140,645,250UniSTS
HSC2HB072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,532,054 - 145,532,260UniSTSGRCh37
Build 368145,502,862 - 145,503,068RGDNCBI36
Celera8141,706,822 - 141,707,028RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,646,623 - 140,646,829UniSTS
Whitehead-RH Map8720.5UniSTS
STS-M64673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,538,135 - 145,538,322UniSTSGRCh37
Build 368145,508,943 - 145,509,130RGDNCBI36
Celera8141,712,903 - 141,713,090RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,652,654 - 140,652,841UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5007
Count of miRNA genes:949
Interacting mature miRNAs:1207
Transcripts:ENST00000400780, ENST00000527328, ENST00000528199, ENST00000528838, ENST00000528842, ENST00000528988, ENST00000529630, ENST00000530661, ENST00000531447, ENST00000532338, ENST00000533130, ENST00000533240, ENST00000534314
Prediction methods: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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2430 2959 1705 605 1920 447 4353 2182 3670 413 1446 1608 171 1204 2787 3
Low 7 31 18 18 28 18 3 14 47 5 13 2 3 1 3 1
Below cutoff 2 1 3 1 1 17 1 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_246618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC110280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC142402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF299094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU617486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS542425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA481620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000400780   ⟹   ENSP00000383590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,291,591 - 144,314,668 (+)Ensembl
RefSeq Acc Id: ENST00000527328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,310,399 - 144,314,716 (+)Ensembl
RefSeq Acc Id: ENST00000528199
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,309,196 - 144,311,382 (+)Ensembl
RefSeq Acc Id: ENST00000528838   ⟹   ENSP00000431512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,291,604 - 144,314,720 (+)Ensembl
RefSeq Acc Id: ENST00000528842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,313,041 - 144,314,204 (+)Ensembl
RefSeq Acc Id: ENST00000528988   ⟹   ENSP00000481007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,291,605 - 144,309,594 (+)Ensembl
RefSeq Acc Id: ENST00000529630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,309,269 - 144,310,094 (+)Ensembl
RefSeq Acc Id: ENST00000530661   ⟹   ENSP00000480423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,311,766 - 144,314,176 (+)Ensembl
RefSeq Acc Id: ENST00000531447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,311,054 - 144,311,610 (+)Ensembl
RefSeq Acc Id: ENST00000532338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,309,034 - 144,314,719 (+)Ensembl
RefSeq Acc Id: ENST00000533130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,311,175 - 144,311,887 (+)Ensembl
RefSeq Acc Id: ENST00000533240   ⟹   ENSP00000436616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,292,580 - 144,311,367 (+)Ensembl
RefSeq Acc Id: ENST00000534314   ⟹   ENSP00000484174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,309,458 - 144,312,091 (+)Ensembl
RefSeq Acc Id: ENST00000614796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,312,613 - 144,314,720 (+)Ensembl
RefSeq Acc Id: NM_005526   ⟹   NP_005517
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,291,604 - 144,314,720 (+)NCBI
GRCh378145,515,270 - 145,538,385 (+)ENTREZGENE
Build 368145,486,078 - 145,509,193 (+)NCBI Archive
HuRef8140,629,839 - 140,652,904 (+)ENTREZGENE
CHM1_18145,553,452 - 145,576,661 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272315   ⟹   XP_005272372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,291,603 - 144,314,720 (+)NCBI
GRCh378145,515,270 - 145,538,385 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272316   ⟹   XP_005272373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,291,603 - 144,314,720 (+)NCBI
GRCh378145,515,270 - 145,538,385 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272317   ⟹   XP_005272374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,291,603 - 144,312,711 (+)NCBI
GRCh378145,515,270 - 145,538,385 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517004   ⟹   XP_011515306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,309,458 - 144,314,720 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517006   ⟹   XP_011515308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,311,321 - 144,314,720 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013377   ⟹   XP_016868866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,291,603 - 144,314,720 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447144   ⟹   XP_024302912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,291,605 - 144,314,720 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745526
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,291,603 - 144,314,720 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745527
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,291,603 - 144,314,720 (+)NCBI
Sequence:
RefSeq Acc Id: XR_246618
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,291,603 - 144,314,720 (+)NCBI
GRCh378145,515,270 - 145,538,385 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005517   ⟸   NM_005526
- UniProtKB: Q00613 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272372   ⟸   XM_005272315
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005272373   ⟸   XM_005272316
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005272374   ⟸   XM_005272317
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011515306   ⟸   XM_011517004
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011515308   ⟸   XM_011517006
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016868866   ⟸   XM_017013377
- Peptide Label: isoform X3
- UniProtKB: Q00613 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024302912   ⟸   XM_024447144
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000480423   ⟸   ENST00000530661
RefSeq Acc Id: ENSP00000383590   ⟸   ENST00000400780
RefSeq Acc Id: ENSP00000436616   ⟸   ENST00000533240
RefSeq Acc Id: ENSP00000484174   ⟸   ENST00000534314
RefSeq Acc Id: ENSP00000431512   ⟸   ENST00000528838
RefSeq Acc Id: ENSP00000481007   ⟸   ENST00000528988
Protein Domains
HSF_DOMAIN   Vert_HS_TF

Promoters
RGD ID:7214447
Promoter ID:EPDNEW_H12970
Type:initiation region
Name:HSF1_1
Description:heat shock transcription factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,291,605 - 144,291,665EPDNEW
RGD ID:6806521
Promoter ID:HG_KWN:62330
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005526,   NM_015201,   UC003ZBU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,485,031 - 145,486,857 (-)MPROMDB
RGD ID:6813422
Promoter ID:HG_ACW:79413
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:HSF1.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,504,651 - 145,505,692 (+)MPROMDB
RGD ID:6813425
Promoter ID:HG_ACW:79414
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:HSF1.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,505,724 - 145,506,224 (+)MPROMDB
RGD ID:6813423
Promoter ID:HG_ACW:79415
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:HSF1.HAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,506,976 - 145,507,982 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
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 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
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 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 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
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 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
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 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely 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
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
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 8q24.3(chr8:145487123-145554934)x3 copy number gain See cases [RCV000445849] Chr8:145487123..145554934 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely 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 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
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 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
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
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145536497-145562111)x1 copy number loss not provided [RCV000748012] Chr8:145536497..145562111 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145536497-145567438)x1 copy number loss not provided [RCV000748013] Chr8:145536497..145567438 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145536497-145567872)x1 copy number loss not provided [RCV000748014] Chr8:145536497..145567872 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145536497-145574608)x1 copy number loss not provided [RCV000748015] Chr8:145536497..145574608 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145537235-145567438)x1 copy number loss not provided [RCV000748016] Chr8:145537235..145567438 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145537339-145561963)x3 copy number gain not provided [RCV000748017] Chr8:145537339..145561963 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145537339-145562215)x1 copy number loss not provided [RCV000748018] Chr8:145537339..145562215 [GRCh37]
Chr8:8q24.3
benign
NM_005526.4(HSF1):c.429C>T (p.Asp143=) single nucleotide variant not provided [RCV000899927] Chr8:144309837 [GRCh38]
Chr8:145533523 [GRCh37]
Chr8:8q24.3
benign
NM_005526.4(HSF1):c.711G>A (p.Ser237=) single nucleotide variant not provided [RCV000939290] Chr8:144311589 [GRCh38]
Chr8:145535275 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
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 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_005526.4(HSF1):c.72C>A (p.Thr24=) single nucleotide variant not provided [RCV000975199] Chr8:144291829 [GRCh38]
Chr8:145515511 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5224 AgrOrtholog
COSMIC HSF1 COSMIC
Ensembl Genes ENSG00000185122 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000284774 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000383590 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000431512 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000436616 UniProtKB/TrEMBL
  ENSP00000480423 UniProtKB/TrEMBL
  ENSP00000481007 UniProtKB/TrEMBL
  ENSP00000484174 UniProtKB/TrEMBL
  ENSP00000493830 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000400780 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000528838 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000528988 UniProtKB/TrEMBL
  ENST00000530661 UniProtKB/TrEMBL
  ENST00000533240 UniProtKB/TrEMBL
  ENST00000534314 UniProtKB/TrEMBL
  ENST00000646252 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185122 GTEx
  ENSG00000284774 GTEx
HGNC ID HGNC:5224 ENTREZGENE
Human Proteome Map HSF1 Human Proteome Map
InterPro HSF_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSF_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vert_HSTF_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3297 UniProtKB/Swiss-Prot
NCBI Gene 3297 ENTREZGENE
OMIM 140580 OMIM
PANTHER PTHR10015 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HSF_DNA-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vert_HS_TF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29493 PharmGKB
PRINTS HSFDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HSF_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HSF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WWQ3_HUMAN UniProtKB/TrEMBL
  A0A087WXG6_HUMAN UniProtKB/TrEMBL
  A0A087X1F9_HUMAN UniProtKB/TrEMBL
  E9PI02_HUMAN UniProtKB/TrEMBL
  E9PMQ6_HUMAN UniProtKB/TrEMBL
  HSF1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K4L0 UniProtKB/Swiss-Prot
  A8MW26 UniProtKB/Swiss-Prot
  Q53XT4 UniProtKB/Swiss-Prot