SREBF1 (sterol regulatory element binding transcription factor 1) - Rat Genome Database
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Gene: SREBF1 (sterol regulatory element binding transcription factor 1) Homo sapiens
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Symbol: SREBF1
Name: sterol regulatory element binding transcription factor 1
RGD ID: 69473
HGNC Page HGNC
Description: Exhibits DNA-binding transcription activator activity, RNA polymerase II-specific; nuclear receptor activity; and sterol response element binding activity. Involved in several processes, including SREBP signaling pathway; positive regulation of biosynthetic process; and regulation of protein targeting to mitochondrion. Localizes to endoplasmic reticulum and nucleus. Implicated in disease of metabolism and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bHLHd1; class D basic helix-loop-helix protein 1; HMD; IFAP2; SREBP-1; SREBP-1c; SREBP1; SREBP1a; sterol regulatory element binding protein-1; sterol regulatory element-binding protein 1; sterol regulatory element-binding transcription factor 1
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
Is Marker For: Strains:   SHR-Tg(PEPCK-SREBF1)1Ipcv   SHR-Tg(PEPCK-SREBF1)2Ipcv  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1717,810,399 - 17,837,011 (-)EnsemblGRCh38hg38GRCh38
GRCh381717,811,334 - 17,837,017 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371717,714,648 - 17,740,300 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361717,656,111 - 17,681,050 (-)NCBINCBI36hg18NCBI36
Build 341717,656,110 - 17,681,050NCBI
Celera1718,654,135 - 18,680,982 (-)NCBI
Cytogenetic Map17p11.2NCBI
HuRef1717,466,908 - 17,494,061 (-)NCBIHuRef
CHM1_11717,723,458 - 17,749,109 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(-)-cotinine  (ISO)
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
(25R)-cholest-5-ene-3beta,26-diol  (ISO)
(R)-carnitine  (ISO)
(R)-lipoic acid  (ISO)
(S)-nicotine  (EXP,ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,10-phenanthroline  (EXP)
1,2,3,4,6-pentakis-O-galloyl-beta-D-glucose  (ISO)
1,3-dichloropropan-2-ol  (EXP,ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (EXP)
1-benzylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose 6-phosphate  (ISO)
2-deoxy-D-glucose  (ISO)
2-naphthylamine  (EXP)
22-Hydroxycholesterol  (EXP,ISO)
25-hydroxycholesterol  (EXP,ISO)
26-hydroxycholesterol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-phenylprop-2-enal  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-nonylphenol  (ISO)
4-phenylbutyric acid  (ISO)
4-tert-Octylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
8'-apo-beta,psi-caroten-8'-al  (EXP)
8-Br-cAMP  (EXP)
9-cis,11-trans-octadecadienoic acid  (ISO)
9-cis-retinoic acid  (EXP)
acetaldehyde  (EXP,ISO)
acetamide  (ISO)
acetylleucyl-leucyl-norleucinal  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
alcohol  (ISO)
aldehydo-D-glucosamine 6-phosphate  (ISO)
aldehydo-D-glucose  (EXP,ISO)
aldrin  (ISO)
all-trans-retinoic acid  (ISO)
alliin  (EXP)
allopurinol  (EXP,ISO)
alpha-D-galactose  (ISO)
alpha-linolenic acid  (ISO)
alpha-pinene  (EXP)
amiodarone  (EXP,ISO)
amitriptyline  (EXP)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
apigenin  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP,ISO)
atorvastatin calcium  (ISO)
atrazine  (ISO)
Azaspiracid  (EXP)
AZD4547  (EXP)
azoxystrobin  (ISO)
baicalein  (ISO)
benzene  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzylpenicillin  (ISO)
berberine  (EXP,ISO)
beta-carotene  (EXP)
beta-D-glucosamine 6-sulfate  (ISO)
beta-hexachlorocyclohexane  (EXP,ISO)
beta-naphthoflavone  (ISO)
betulin  (EXP)
bexarotene  (EXP,ISO)
bezafibrate  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
boric acid  (ISO)
bromobenzene  (ISO)
buspirone  (ISO)
buta-1,3-diene  (ISO)
butyric acid  (EXP,ISO)
C60 fullerene  (ISO)
Cacalol  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
carbendazim  (ISO)
CARBENOXOLONE  (ISO)
carbon nanotube  (EXP,ISO)
carvedilol  (ISO)
cerivastatin  (EXP)
chenodeoxycholic acid  (EXP,ISO)
chitosan  (ISO)
chloroethene  (ISO)
chlorohydrocarbon  (EXP)
cholate  (ISO)
cholesterol  (EXP,ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cis-caffeic acid  (EXP)
cisplatin  (EXP)
citalopram  (EXP)
clofazimine  (ISO)
clofibrate  (EXP,ISO)
clomipramine  (EXP)
clozapine  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
corticosterone  (ISO)
cortisol  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
D-gluconic acid  (ISO)
D-glucose  (EXP,ISO)
D-penicillamine  (ISO)
dabrafenib  (EXP)
DDE  (EXP)
deoxypodophyllotoxin  (EXP,ISO)
depsipeptide  (EXP)
desmosterol  (ISO)
dexamethasone  (EXP,ISO)
Diallyl sulfide  (EXP,ISO)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
dihydroartemisinin  (EXP,ISO)
dimethyl sulfoxide  (ISO)
dioxygen  (EXP)
disodium selenite  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP,ISO)
doxorubicin  (EXP,ISO)
efavirenz  (EXP)
elemental selenium  (ISO)
endosulfan  (ISO)
entinostat  (EXP)
erythromycin A  (ISO)
erythromycin estolate  (ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
ezetimibe  (EXP)
fenofibrate  (EXP,ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gadolinium trichloride  (ISO)
galactose  (ISO)
gamma-hexachlorocyclohexane  (ISO)
Gastrodin  (ISO)
gefitinib  (EXP)
genistein  (EXP,ISO)
geraniol  (ISO)
ginsenoside Re  (EXP,ISO)
glucagon  (ISO)
glucose  (EXP,ISO)
glutathione  (ISO)
glycerol 2-phosphate  (EXP)
glyphosate  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
guggulsterone  (ISO)
GW 3965  (EXP,ISO)
GW 4064  (EXP)
GW 7647  (EXP)
herbacetin  (ISO)
hexadecanoic acid  (EXP,ISO)
Honokiol  (ISO)
hydrazines  (ISO)
hydrogen peroxide  (EXP)
imidacloprid  (ISO)
imipramine  (EXP)
indole-3-methanol  (ISO)
kahweol  (EXP)
ketamine  (ISO)
ketotifen  (EXP)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
linoleic acid  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (ISO)
losartan  (ISO)
lovastatin  (ISO)
luteolin  (ISO)
LY294002  (EXP,ISO)
magnesium atom  (ISO)
Magnolol  (ISO)
melatonin  (ISO)
metformin  (EXP,ISO)
methyl methanesulfonate  (EXP)
mevastatin  (ISO)
microcystin-LR  (ISO)
miquelianin  (ISO)
mirtazapine  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monocrotophos  (ISO)
monosodium L-glutamate  (ISO)
myricetin  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-methylformamide  (ISO)
N-methylnicotinate  (EXP,ISO)
N-nitrosodiethylamine  (EXP)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naloxone  (ISO)
naringin  (ISO)
nefazodone  (ISO)
nelfinavir  (EXP)
nevirapine  (EXP,ISO)
nicotinamide  (EXP)
nicotine  (EXP,ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (EXP,ISO)
olanzapine  (ISO)
olaparib  (ISO)
oleanolic acid  (EXP)
oleic acid  (EXP,ISO)
oleuropein  (ISO)
Olmesartan medoxomil  (ISO)
oroxylin A  (EXP,ISO)
ozone  (EXP,ISO)
p-menthan-3-ol  (EXP)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP,ISO)
Paxilline  (EXP)
PD 168393  (ISO)
penconazole  (ISO)
perfluorododecanoic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
picolinic acid  (ISO)
pirinixic acid  (ISO)
platycodin D  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propamocarb  (ISO)
propiconazole  (EXP,ISO)
puerarin  (ISO)
Pyridostigmine bromide  (ISO)
quercetin  (EXP,ISO)
raffinose  (EXP,ISO)
raloxifene  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
risperidone  (ISO)
ritonavir  (ISO)
rotenone  (EXP,ISO)
S-allylcysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
salubrinal  (ISO)
SB 431542  (EXP)
scopoletin  (ISO)
selenium atom  (ISO)
selenomethionine  (ISO)
silibinin  (EXP)
simvastatin  (EXP,ISO)
sirolimus  (ISO)
sirtinol  (EXP)
sodium arsenite  (EXP,ISO)
sodium cholate  (ISO)
sodium dichromate  (ISO)
starch  (ISO)
stavudine  (ISO)
streptozocin  (ISO)
sucrose  (ISO)
sulforaphane  (EXP,ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
tauroursodeoxycholic acid  (ISO)
tebuconazole  (EXP)
testosterone  (ISO)
testosterone cypionate  (ISO)
tetrachloromethane  (ISO)
tetracycline  (EXP,ISO)
tetramethylpyrazine  (ISO)
thapsigargin  (EXP,ISO)
theophylline  (ISO)
thioacetamide  (ISO)
thymol  (ISO)
thymol sulfate(1-)  (ISO)
topiramate  (ISO)
trametinib  (EXP)
trans-caffeic acid  (EXP)
tributyl phosphate  (EXP)
tributylstannane  (EXP,ISO)
Tributyltin oxide  (ISO)
triclosan  (EXP)
triolein  (ISO)
triphenyl phosphate  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (EXP,ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP,ISO)
tyrphostin AG 1478  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vemurafenib  (EXP)
vincristine  (EXP)
wortmannin  (ISO)
xylose  (ISO)
Y-27632  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (IEA,ISO)
cellular response to fatty acid  (IEA,ISO)
cellular response to insulin stimulus  (ISO)
cellular response to starvation  (ISO,ISS)
cholesterol metabolic process  (IEA,ISO)
circadian rhythm  (IEA,ISO)
fat cell differentiation  (IEA,ISO)
insulin receptor signaling pathway  (IEA,ISO)
intracellular receptor signaling pathway  (TAS)
lipid biosynthetic process  (ISO,ISS)
lipid localization  (IEA,ISO)
lipid metabolic process  (TAS)
lung development  (IEA,ISO)
mRNA transcription by RNA polymerase II  (IEA,ISO)
negative regulation of insulin secretion  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
positive regulation of cholesterol biosynthetic process  (IDA,IEA,ISO)
positive regulation of histone deacetylation  (IEA,ISO)
positive regulation of innate immune response  (ISO)
positive regulation of lipid biosynthetic process  (ISO)
positive regulation of pri-miRNA transcription by RNA polymerase II  (IDA,ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IGI,ISO,TAS)
positive regulation of transcription, DNA-templated  (ISO)
positive regulation of triglyceride biosynthetic process  (ISO,ISS)
regulation of autophagy of mitochondrion  (IMP)
regulation of cholesterol biosynthetic process  (TAS)
regulation of fatty acid metabolic process  (IEA,ISO)
regulation of heart rate by chemical signal  (IEA,ISO)
regulation of insulin secretion  (ISO)
regulation of lipid metabolic process  (TAS)
regulation of lipid storage  (IEA,ISO)
regulation of protein stability  (IMP)
regulation of protein targeting to mitochondrion  (IMP)
regulation of transcription by RNA polymerase II  (IBA,IDA,ISO)
regulation of transcription, DNA-templated  (ISO)
response to cAMP  (IEA,ISO)
response to drug  (IEA,ISO)
response to ethanol  (IEA,ISO)
response to fatty acid  (ISO)
response to food  (IEA,ISO)
response to glucagon  (IEA,ISO)
response to glucose  (IEA,ISO)
response to lipid  (ISO)
response to organic cyclic compound  (ISO)
response to peptide hormone  (ISO)
response to progesterone  (IEA,ISO)
response to retinoic acid  (IEA,ISO)
SREBP signaling pathway  (IDA,IMP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Cho EJ, etal., J Pharm Pharmacol. 2007 May;59(5):687-94.
2. Desai M, etal., Reprod Sci. 2008 Oct;15(8):785-96.
3. GOA_HUMAN data from the GO Consortium
4. Hu YB, etal., Drug Des Devel Ther. 2018 Jul 16;12:2213-2221. doi: 10.2147/DDDT.S170518. eCollection 2018.
5. Ishigaki N, etal., Biochem Biophys Res Commun. 2007 Dec 21;364(3):502-8. Epub 2007 Oct 16.
6. Jiang T, etal., J Am Soc Nephrol. 2005 Aug;16(8):2385-94. Epub 2005 Jun 8.
7. Jun H, etal., Histochem Cell Biol. 2009 Mar;131(3):327-45. Epub 2008 Dec 2.
8. Li Y, etal., Diabetes Metab Res Rev. 2008 Sep;24(6):498-506.
9. Liu JX, etal., Diabetes Res Clin Pract. 2008 Oct;82(1):42-7. Epub 2008 Aug 8.
10. Osborne TF and Espenshade PJ, Genes Dev. 2009 Nov 15;23(22):2578-91.
11. Ota T, etal., Gastroenterology. 2007 Jan;132(1):282-93. Epub 2006 Oct 12.
12. Pallottini V, etal., J Cell Biochem. 2006 Aug 1;98(5):1044-53.
13. Park HJ, etal., Circ Res. 2009 May 7.
14. Pipeline to import KEGG annotations from KEGG into RGD
15. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
16. Proctor G, etal., Diabetes. 2006 Sep;55(9):2502-9.
17. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. RGD automated import pipeline for gene-chemical interactions
19. Sajan MP, etal., Diabetologia. 2009 Jun;52(6):1197-207. Epub 2009 Apr 9.
20. Wang Z, etal., Diabetes. 2005 Aug;54(8):2328-35.
21. Wu J, etal., Am J Physiol. 1999 Dec;277(6 Pt 1):E1087-94.
22. Xu W, etal., Toxicol Appl Pharmacol. 2017 Jan 15;315:23-34. doi: 10.1016/j.taap.2016.12.001. Epub 2016 Dec 6.
Additional References at PubMed
PMID:7759101   PMID:7903453   PMID:8006035   PMID:8156598   PMID:8314806   PMID:8402897   PMID:8626610   PMID:8918891   PMID:9062340   PMID:9070916   PMID:9242699   PMID:9634703  
PMID:9651391   PMID:9765204   PMID:10224053   PMID:10235267   PMID:10585876   PMID:10619424   PMID:10627507   PMID:10915800   PMID:10949029   PMID:11257259   PMID:11334418   PMID:11485982  
PMID:11713202   PMID:11834832   PMID:11916923   PMID:11929849   PMID:11997338   PMID:12021179   PMID:12145339   PMID:12177166   PMID:12202038   PMID:12213084   PMID:12242332   PMID:12436350  
PMID:12477932   PMID:12531699   PMID:12615929   PMID:12640139   PMID:12657626   PMID:12730330   PMID:12752570   PMID:14615581   PMID:14633850   PMID:14654692   PMID:14701856   PMID:14702039  
PMID:14722127   PMID:14742839   PMID:14744869   PMID:14747281   PMID:14748724   PMID:14988272   PMID:15026365   PMID:15085196   PMID:15102555   PMID:15123650   PMID:15123654   PMID:15277400  
PMID:15286454   PMID:15317819   PMID:15340088   PMID:15358760   PMID:15388640   PMID:15550381   PMID:15677507   PMID:15680331   PMID:15769984   PMID:15794649   PMID:15798184   PMID:15809359  
PMID:15833942   PMID:16005884   PMID:16007182   PMID:16054087   PMID:16055439   PMID:16081540   PMID:16141315   PMID:16153721   PMID:16158080   PMID:16162944   PMID:16198472   PMID:16249184  
PMID:16303770   PMID:16306078   PMID:16344560   PMID:16387548   PMID:16407292   PMID:16429400   PMID:16480961   PMID:16713569   PMID:16799563   PMID:16804073   PMID:16806233   PMID:16817902  
PMID:16825193   PMID:16880739   PMID:16885156   PMID:17019602   PMID:17081983   PMID:17141191   PMID:17160088   PMID:17198935   PMID:17283069   PMID:17296605   PMID:17331464   PMID:17344645  
PMID:17452746   PMID:17636037   PMID:17655842   PMID:17681345   PMID:17989724   PMID:18065496   PMID:18068676   PMID:18072016   PMID:18192539   PMID:18195716   PMID:18245227   PMID:18267114  
PMID:18272927   PMID:18281474   PMID:18304434   PMID:18334917   PMID:18360697   PMID:18385733   PMID:18403372   PMID:18420801   PMID:18435918   PMID:18559965   PMID:18635549   PMID:18654640  
PMID:18660489   PMID:18682402   PMID:18727921   PMID:18752865   PMID:18774944   PMID:18835813   PMID:18854425   PMID:18936756   PMID:18996102   PMID:19008011   PMID:19032865   PMID:19040658  
PMID:19056350   PMID:19056482   PMID:19062325   PMID:19126544   PMID:19242521   PMID:19252981   PMID:19274049   PMID:19292868   PMID:19303849   PMID:19323650   PMID:19336475   PMID:19360318  
PMID:19470430   PMID:19533843   PMID:19578796   PMID:19621387   PMID:19720801   PMID:19727213   PMID:19727227   PMID:19733654   PMID:19811452   PMID:19876004   PMID:19878569   PMID:19913121  
PMID:19913854   PMID:19948975   PMID:19966780   PMID:20005944   PMID:20026048   PMID:20028734   PMID:20031551   PMID:20067991   PMID:20071336   PMID:20130133   PMID:20145241   PMID:20167577  
PMID:20171215   PMID:20173757   PMID:20235787   PMID:20376806   PMID:20466882   PMID:20513236   PMID:20534441   PMID:20554776   PMID:20595232   PMID:20615871   PMID:20628086   PMID:20648548  
PMID:20655124   PMID:20817729   PMID:20863500   PMID:20868688   PMID:20965718   PMID:20971080   PMID:20980003   PMID:21093473   PMID:21145868   PMID:21146170   PMID:21310851   PMID:21325464  
PMID:21540177   PMID:21609284   PMID:21619898   PMID:21645898   PMID:21652712   PMID:21664250   PMID:21738487   PMID:21757781   PMID:21775116   PMID:21826653   PMID:21836065   PMID:21871872  
PMID:21873635   PMID:21993218   PMID:22035958   PMID:22059152   PMID:22064655   PMID:22152380   PMID:22153697   PMID:22258239   PMID:22311022   PMID:22331133   PMID:22363740   PMID:22384276  
PMID:22425645   PMID:22429355   PMID:22474125   PMID:22672904   PMID:22678801   PMID:22690709   PMID:22786746   PMID:22939624   PMID:22966071   PMID:22984430   PMID:23106379   PMID:23147115  
PMID:23184344   PMID:23208501   PMID:23226416   PMID:23422505   PMID:23465592   PMID:23515281   PMID:23610160   PMID:23680128   PMID:23703028   PMID:23818099   PMID:23825667   PMID:23913732  
PMID:23985808   PMID:24105476   PMID:24152445   PMID:24217618   PMID:24298052   PMID:24481861   PMID:24484994   PMID:24614076   PMID:24704425   PMID:24722912   PMID:24729033   PMID:24776759  
PMID:24825092   PMID:24868893   PMID:24912190   PMID:24924687   PMID:24931346   PMID:25028659   PMID:25056061   PMID:25111690   PMID:25182422   PMID:25199460   PMID:25264165   PMID:25270091  
PMID:25270430   PMID:25353341   PMID:25524705   PMID:25583993   PMID:25589463   PMID:25619842   PMID:25634759   PMID:25655569   PMID:25733328   PMID:25800871   PMID:25801724   PMID:25855506  
PMID:25891779   PMID:25893295   PMID:25904332   PMID:26028026   PMID:26141060   PMID:26147081   PMID:26321664   PMID:26392539   PMID:26437365   PMID:26469385   PMID:26512780   PMID:26514267  
PMID:26555173   PMID:26759235   PMID:26771965   PMID:26830228   PMID:26855332   PMID:26869449   PMID:26898440   PMID:26935028   PMID:26937945   PMID:26982812   PMID:27179781   PMID:27270405  
PMID:27281560   PMID:27320911   PMID:27467133   PMID:27477273   PMID:27572914   PMID:27579997   PMID:27614840   PMID:27939887   PMID:28027934   PMID:28083517   PMID:28173150   PMID:28218386  
PMID:28367087   PMID:28367099   PMID:28473536   PMID:28514442   PMID:28628909   PMID:28665143   PMID:28701079   PMID:28743860   PMID:28920951   PMID:29033323   PMID:29097707   PMID:29108200  
PMID:29117863   PMID:29128630   PMID:29138263   PMID:29180619   PMID:29183723   PMID:29269047   PMID:29449559   PMID:29486327   PMID:29514980   PMID:29555473   PMID:29609490   PMID:29653103  
PMID:29663480   PMID:29784665   PMID:29803738   PMID:29950559   PMID:29968360   PMID:29988076   PMID:30004626   PMID:30206735   PMID:30231795   PMID:30258014   PMID:30301150   PMID:30354203  
PMID:30389501   PMID:30446222   PMID:30567368   PMID:30638930   PMID:30718857   PMID:30791926   PMID:30804502   PMID:30823689   PMID:30902980   PMID:30914315   PMID:30954075   PMID:31073170  
PMID:31296258   PMID:31299935   PMID:31316083   PMID:31379107   PMID:31409773   PMID:31490983   PMID:31541353   PMID:31601152   PMID:31610782   PMID:31790666   PMID:31861383   PMID:31887541  
PMID:31998789   PMID:32497488   PMID:32694731   PMID:32814053   PMID:33229547  


Genomics

Comparative Map Data
SREBF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1717,810,399 - 17,837,011 (-)EnsemblGRCh38hg38GRCh38
GRCh381717,811,334 - 17,837,017 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371717,714,648 - 17,740,300 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361717,656,111 - 17,681,050 (-)NCBINCBI36hg18NCBI36
Build 341717,656,110 - 17,681,050NCBI
Celera1718,654,135 - 18,680,982 (-)NCBI
Cytogenetic Map17p11.2NCBI
HuRef1717,466,908 - 17,494,061 (-)NCBIHuRef
CHM1_11717,723,458 - 17,749,109 (-)NCBICHM1_1
Srebf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391160,089,910 - 60,113,407 (-)NCBIGRCm39mm39
GRCm39 Ensembl1160,089,915 - 60,113,407 (-)Ensembl
GRCm381160,199,084 - 60,224,186 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1160,199,089 - 60,222,581 (-)EnsemblGRCm38mm10GRCm38
MGSCv371160,012,591 - 60,034,106 (-)NCBIGRCm37mm9NCBIm37
MGSCv361160,015,284 - 60,036,799 (-)NCBImm8
Celera1166,655,030 - 66,676,425 (+)NCBICelera
Cytogenetic Map11B2NCBI
Srebf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21045,007,637 - 45,029,650 (-)NCBI
Rnor_6.0 Ensembl1046,570,996 - 46,593,009 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01046,570,996 - 46,593,021 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01046,326,015 - 46,348,035 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41046,461,684 - 46,483,646 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1044,264,866 - 44,286,830 (-)NCBICelera
Cytogenetic Map10q22NCBI
Srebf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955577171,425 - 186,046 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955577171,425 - 183,669 (+)NCBIChiLan1.0ChiLan1.0
SREBF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11738,405,794 - 38,432,045 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1738,405,794 - 38,432,045 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01733,458,196 - 33,484,643 (+)NCBIMhudiblu_PPA_v0panPan3
SREBF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl541,663,773 - 41,686,776 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1541,663,809 - 41,686,764 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Srebf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049367411,408,669 - 1,419,717 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SREBF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1260,733,907 - 60,751,265 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11260,733,967 - 60,750,951 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SREBF1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11616,847,603 - 16,874,239 (-)NCBI
ChlSab1.1 Ensembl1616,845,491 - 16,859,554 (-)Ensembl
Srebf1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248493,602,103 - 3,623,922 (+)NCBI

Position Markers
GDB:592712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,722,909 - 17,723,452UniSTSGRCh37
Build 361717,663,634 - 17,664,177RGDNCBI36
Celera1718,662,383 - 18,662,926RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,475,835 - 17,476,378UniSTS
GDB:592720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,722,481 - 17,722,502UniSTSGRCh37
Build 361717,663,206 - 17,663,227RGDNCBI36
Celera1718,661,955 - 18,661,976RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,475,407 - 17,475,428UniSTS
GDB:592724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,720,610 - 17,721,122UniSTSGRCh37
Build 361717,661,335 - 17,661,847RGDNCBI36
Celera1718,660,083 - 18,660,595RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,473,535 - 17,474,047UniSTS
GDB:592726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,720,297 - 17,720,630UniSTSGRCh37
Build 361717,661,022 - 17,661,355RGDNCBI36
Celera1718,659,770 - 18,660,103RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,473,222 - 17,473,555UniSTS
GDB:592730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,719,549 - 17,719,850UniSTSGRCh37
Build 361717,660,274 - 17,660,575RGDNCBI36
Celera1718,659,022 - 18,659,323RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,472,474 - 17,472,775UniSTS
GDB:592732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,719,231 - 17,719,569UniSTSGRCh37
Build 361717,659,956 - 17,660,294RGDNCBI36
Celera1718,658,704 - 18,659,042RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,471,477 - 17,472,494UniSTS
GDB:592800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,717,048 - 17,717,580UniSTSGRCh37
Build 361717,657,773 - 17,658,305RGDNCBI36
Celera1718,656,521 - 18,657,053RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,469,294 - 17,469,826UniSTS
GDB:592807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,716,727 - 17,716,916UniSTSGRCh37
Build 361717,657,452 - 17,657,641RGDNCBI36
Celera1718,656,200 - 18,656,389RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,468,973 - 17,469,162UniSTS
L29900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,735,196 - 17,735,451UniSTSGRCh37
Build 361717,675,921 - 17,676,176RGDNCBI36
Celera1718,675,853 - 18,676,108RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,488,936 - 17,489,191UniSTS
GDB:592707  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17p11.2UniSTS
GDB:592728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,719,831 - 17,720,317UniSTSGRCh37
Celera1718,659,304 - 18,659,790UniSTS
Cytogenetic Map17p11.2UniSTS
HuRef1717,472,756 - 17,473,242UniSTS
GDB:592797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,717,560 - 17,718,030UniSTSGRCh37
Celera1718,657,033 - 18,657,503UniSTS
Cytogenetic Map17p11.2UniSTS
HuRef1717,469,806 - 17,470,276UniSTS
GDB:592698  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17p11.2UniSTS
GDB:592722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,721,102 - 17,721,686UniSTSGRCh37
Celera1718,660,575 - 18,661,159UniSTS
Cytogenetic Map17p11.2UniSTS
HuRef1717,474,027 - 17,474,611UniSTS
GDB:592734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,718,587 - 17,719,254UniSTSGRCh37
Celera1718,658,060 - 18,658,727UniSTS
Cytogenetic Map17p11.2UniSTS
HuRef1717,470,833 - 17,471,500UniSTS
GDB:592791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,718,010 - 17,718,607UniSTSGRCh37
Celera1718,657,483 - 18,658,080UniSTS
Cytogenetic Map17p11.2UniSTS
HuRef1717,470,256 - 17,470,853UniSTS
GDB:592816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371717,716,093 - 17,716,745UniSTSGRCh37
Celera1718,655,566 - 18,656,218UniSTS
Cytogenetic Map17p11.2UniSTS
HuRef1717,468,339 - 17,468,991UniSTS


Related Rat Strains
The following Strains have been annotated to SREBF1

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10404
Count of miRNA genes:1283
Interacting mature miRNAs:1673
Transcripts:ENST00000261646, ENST00000338854, ENST00000355815, ENST00000395751, ENST00000395756, ENST00000395757, ENST00000423161, ENST00000435530, ENST00000447641, ENST00000469356, ENST00000470247, ENST00000471445, ENST00000476994, ENST00000478616, ENST00000485080, ENST00000486311, ENST00000487401, ENST00000490796, ENST00000577897, ENST00000578469, ENST00000580540, ENST00000581707, ENST00000583080, ENST00000583732, ENST00000584760
Prediction methods:Microtar, Miranda, Pita, 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 2422 2319 1711 617 1603 459 4209 1758 3548 357 1443 1592 171 1196 2653 3
Low 16 671 14 7 345 6 148 439 184 62 17 21 3 1 8 135 3 2
Below cutoff 1 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB373958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB373959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC122129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE208013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI906407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ025047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA113045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA388544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB084001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY085642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U00968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261646   ⟹   ENSP00000261646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,811,356 - 17,837,011 (-)Ensembl
RefSeq Acc Id: ENST00000355815   ⟹   ENSP00000348069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,812,073 - 17,836,987 (-)Ensembl
RefSeq Acc Id: ENST00000395751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,812,073 - 17,820,864 (-)Ensembl
RefSeq Acc Id: ENST00000395756   ⟹   ENSP00000474121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,812,073 - 17,818,327 (-)Ensembl
RefSeq Acc Id: ENST00000395757   ⟹   ENSP00000379106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,811,356 - 17,837,002 (-)Ensembl
RefSeq Acc Id: ENST00000423161   ⟹   ENSP00000411516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,819,027 - 17,823,618 (-)Ensembl
RefSeq Acc Id: ENST00000447641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,814,344 - 17,816,395 (-)Ensembl
RefSeq Acc Id: ENST00000469356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,816,525 - 17,818,742 (-)Ensembl
RefSeq Acc Id: ENST00000470247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,818,223 - 17,819,234 (-)Ensembl
RefSeq Acc Id: ENST00000471445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,816,457 - 17,817,750 (-)Ensembl
RefSeq Acc Id: ENST00000476994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,820,008 - 17,823,594 (-)Ensembl
RefSeq Acc Id: ENST00000478616   ⟹   ENSP00000464923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,812,910 - 17,814,355 (-)Ensembl
RefSeq Acc Id: ENST00000485080   ⟹   ENSP00000466643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,810,399 - 17,813,769 (-)Ensembl
RefSeq Acc Id: ENST00000486311   ⟹   ENSP00000466453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,812,712 - 17,814,376 (-)Ensembl
RefSeq Acc Id: ENST00000487401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,817,526 - 17,818,345 (-)Ensembl
RefSeq Acc Id: ENST00000490796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,814,616 - 17,816,384 (-)Ensembl
RefSeq Acc Id: ENST00000577897   ⟹   ENSP00000463474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,819,121 - 17,820,510 (-)Ensembl
RefSeq Acc Id: ENST00000578469   ⟹   ENSP00000465747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,811,356 - 17,813,442 (-)Ensembl
RefSeq Acc Id: ENST00000580540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,817,123 - 17,817,900 (-)Ensembl
RefSeq Acc Id: ENST00000581707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,814,403 - 17,815,373 (-)Ensembl
RefSeq Acc Id: ENST00000583080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,817,424 - 17,818,149 (-)Ensembl
RefSeq Acc Id: ENST00000583732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,819,072 - 17,823,604 (-)Ensembl
RefSeq Acc Id: ENST00000584760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,815,597 - 17,816,338 (-)Ensembl
RefSeq Acc Id: ENST00000662439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1717,812,073 - 17,819,951 (-)Ensembl
RefSeq Acc Id: NM_001005291   ⟹   NP_001005291
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
GRCh371717,714,663 - 17,740,331 (-)NCBI
Build 361717,656,111 - 17,681,050 (-)NCBI Archive
HuRef1717,466,908 - 17,494,061 (-)ENTREZGENE
CHM1_11717,723,458 - 17,749,109 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321096   ⟹   NP_001308025
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,823,630 (-)NCBI
CHM1_11717,724,178 - 17,735,780 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001388385   ⟹   NP_001375314
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NM_001388386   ⟹   NP_001375315
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NM_001388387   ⟹   NP_001375316
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NM_001388388   ⟹   NP_001375317
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NM_001388389   ⟹   NP_001375318
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NM_001388390   ⟹   NP_001375319
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NM_001388391   ⟹   NP_001375320
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NM_001388392   ⟹   NP_001375321
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NM_001388393   ⟹   NP_001375322
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NM_001388394   ⟹   NP_001375323
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NM_004176   ⟹   NP_004167
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
GRCh371717,714,663 - 17,740,331 (-)NCBI
Build 361717,656,111 - 17,681,050 (-)NCBI Archive
HuRef1717,466,908 - 17,494,061 (-)ENTREZGENE
CHM1_11717,723,458 - 17,749,109 (-)NCBI
Sequence:
RefSeq Acc Id: NR_170943
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NR_170944
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NR_170945
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: NR_170990
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,334 - 17,836,986 (-)NCBI
RefSeq Acc Id: XM_017024970   ⟹   XP_016880459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,812,072 - 17,819,723 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024971   ⟹   XP_016880460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,812,072 - 17,818,374 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450894   ⟹   XP_024306662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,812,072 - 17,837,017 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450895   ⟹   XP_024306663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,349 - 17,837,017 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958058
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381717,811,349 - 17,837,017 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001005291 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308025 (Get FASTA)   NCBI Sequence Viewer  
  NP_001375314 (Get FASTA)   NCBI Sequence Viewer  
  NP_001375315 (Get FASTA)   NCBI Sequence Viewer  
  NP_001375316 (Get FASTA)   NCBI Sequence Viewer  
  NP_001375317 (Get FASTA)   NCBI Sequence Viewer  
  NP_001375318 (Get FASTA)   NCBI Sequence Viewer  
  NP_001375319 (Get FASTA)   NCBI Sequence Viewer  
  NP_001375320 (Get FASTA)   NCBI Sequence Viewer  
  NP_001375321 (Get FASTA)   NCBI Sequence Viewer  
  NP_001375322 (Get FASTA)   NCBI Sequence Viewer  
  NP_001375323 (Get FASTA)   NCBI Sequence Viewer  
  NP_004167 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880459 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880460 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306662 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306663 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB28522 (Get FASTA)   NCBI Sequence Viewer  
  AAB28523 (Get FASTA)   NCBI Sequence Viewer  
  AAC50051 (Get FASTA)   NCBI Sequence Viewer  
  AAH23621 (Get FASTA)   NCBI Sequence Viewer  
  AAH26962 (Get FASTA)   NCBI Sequence Viewer  
  AAH57388 (Get FASTA)   NCBI Sequence Viewer  
  AAH63281 (Get FASTA)   NCBI Sequence Viewer  
  BAD92846 (Get FASTA)   NCBI Sequence Viewer  
  BAG06742 (Get FASTA)   NCBI Sequence Viewer  
  BAG06743 (Get FASTA)   NCBI Sequence Viewer  
  BAG52289 (Get FASTA)   NCBI Sequence Viewer  
  BAG53027 (Get FASTA)   NCBI Sequence Viewer  
  BAG54659 (Get FASTA)   NCBI Sequence Viewer  
  BAG57207 (Get FASTA)   NCBI Sequence Viewer  
  BAG57920 (Get FASTA)   NCBI Sequence Viewer  
  BAG59620 (Get FASTA)   NCBI Sequence Viewer  
  EAW55688 (Get FASTA)   NCBI Sequence Viewer  
  EAW55689 (Get FASTA)   NCBI Sequence Viewer  
  EAW55690 (Get FASTA)   NCBI Sequence Viewer  
  EAW55691 (Get FASTA)   NCBI Sequence Viewer  
  P36956 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_004167   ⟸   NM_004176
- Peptide Label: isoform 2
- UniProtKB: P36956 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001005291   ⟸   NM_001005291
- Peptide Label: isoform 1
- UniProtKB: P36956 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308025   ⟸   NM_001321096
- Peptide Label: isoform 3
- UniProtKB: B3KR77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880459   ⟸   XM_017024970
- Peptide Label: isoform X4
- UniProtKB: A8MTU8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880460   ⟸   XM_017024971
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024306663   ⟸   XM_024450895
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024306662   ⟸   XM_024450894
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000411516   ⟸   ENST00000423161
RefSeq Acc Id: ENSP00000464923   ⟸   ENST00000478616
RefSeq Acc Id: ENSP00000466643   ⟸   ENST00000485080
RefSeq Acc Id: ENSP00000463474   ⟸   ENST00000577897
RefSeq Acc Id: ENSP00000465747   ⟸   ENST00000578469
RefSeq Acc Id: ENSP00000466453   ⟸   ENST00000486311
RefSeq Acc Id: ENSP00000261646   ⟸   ENST00000261646
RefSeq Acc Id: ENSP00000348069   ⟸   ENST00000355815
RefSeq Acc Id: ENSP00000379106   ⟸   ENST00000395757
RefSeq Acc Id: ENSP00000474121   ⟸   ENST00000395756
RefSeq Acc Id: NP_001375323   ⟸   NM_001388394
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001375318   ⟸   NM_001388389
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001375321   ⟸   NM_001388392
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001375317   ⟸   NM_001388388
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001375319   ⟸   NM_001388390
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001375320   ⟸   NM_001388391
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001375316   ⟸   NM_001388387
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001375322   ⟸   NM_001388393
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001375315   ⟸   NM_001388386
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001375314   ⟸   NM_001388385
- Peptide Label: isoform 4
Protein Domains
bHLH

Promoters
RGD ID:6794595
Promoter ID:HG_KWN:25208
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002GRO.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361717,655,771 - 17,656,837 (-)MPROMDB
RGD ID:6794581
Promoter ID:HG_KWN:25209
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000131905,   OTTHUMT00000131906,   OTTHUMT00000131907
Position:
Human AssemblyChrPosition (strand)Source
Build 361717,657,751 - 17,659,202 (-)MPROMDB
RGD ID:6794582
Promoter ID:HG_KWN:25210
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000131903,   OTTHUMT00000131904
Position:
Human AssemblyChrPosition (strand)Source
Build 361717,659,941 - 17,661,252 (-)MPROMDB
RGD ID:6794578
Promoter ID:HG_KWN:25211
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000131902
Position:
Human AssemblyChrPosition (strand)Source
Build 361717,661,306 - 17,662,037 (-)MPROMDB
RGD ID:6794579
Promoter ID:HG_KWN:25212
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000131898,   OTTHUMT00000131899,   OTTHUMT00000131901,   UC002GRP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361717,662,401 - 17,663,952 (-)MPROMDB
RGD ID:6811344
Promoter ID:HG_ACW:33390
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SREBF1.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361717,664,236 - 17,664,736 (-)MPROMDB
RGD ID:6794576
Promoter ID:HG_KWN:25213
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000395751,   OTTHUMT00000131897,   UC002GRS.1,   UC010CPP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361717,667,516 - 17,668,157 (-)MPROMDB
RGD ID:6794577
Promoter ID:HG_KWN:25214
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000338854,   NM_001005291,   NM_004176,   UC010CPQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361717,680,551 - 17,682,042 (-)MPROMDB
RGD ID:7234183
Promoter ID:EPDNEW_H22837
Type:initiation region
Name:SREBF1_1
Description:sterol regulatory element binding 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
GRCh381717,836,986 - 17,837,046EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 17p11.2(chr17:16936603-18184130) copy number loss Brachydactyly [RCV000626512] Chr17:16936603..18184130 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3 copy number gain See cases [RCV000050888] Chr17:16879232..18970941 [GRCh38]
Chr17:16782546..18874254 [GRCh37]
Chr17:16723271..18814979 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1 copy number loss See cases [RCV000050513] Chr17:15776915..18771753 [GRCh38]
Chr17:15680229..18675066 [GRCh37]
Chr17:15620954..18615791 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 copy number loss See cases [RCV000050602] Chr17:15898032..20620700 [GRCh38]
Chr17:15801346..20524013 [GRCh37]
Chr17:15742071..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3 copy number gain See cases [RCV000050622] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1 copy number loss See cases [RCV000050624] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 copy number gain See cases [RCV000051852] Chr17:15259164..20925299 [GRCh38]
Chr17:15162481..20828612 [GRCh37]
Chr17:15103206..20769204 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 copy number gain See cases [RCV000051853] Chr17:15897832..20620841 [GRCh38]
Chr17:15801146..20524154 [GRCh37]
Chr17:15741871..20464746 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3 copy number gain See cases [RCV000051876] Chr17:16836827..20340442 [GRCh38]
Chr17:16740141..20243755 [GRCh37]
Chr17:16680866..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3 copy number gain See cases [RCV000051877] Chr17:16836827..20504849 [GRCh38]
Chr17:16740141..20408162 [GRCh37]
Chr17:16680866..20348754 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3 copy number gain See cases [RCV000051855] Chr17:16656168..20390725 [GRCh38]
Chr17:16559482..20294038 [GRCh37]
Chr17:16500207..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3 copy number gain See cases [RCV000051879] Chr17:16919369..20289856 [GRCh38]
Chr17:16822683..20193169 [GRCh37]
Chr17:16763408..20133761 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3 copy number gain See cases [RCV000051858] Chr17:16692462..20390725 [GRCh38]
Chr17:16595776..20294038 [GRCh37]
Chr17:16536501..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 copy number gain See cases [RCV000051860] Chr17:16713514..20582527 [GRCh38]
Chr17:16616828..20485840 [GRCh37]
Chr17:16557553..20426432 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 copy number gain See cases [RCV000051849] Chr17:15234685..20620700 [GRCh38]
Chr17:15138002..20524013 [GRCh37]
Chr17:15078727..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3 copy number gain See cases [RCV000051871] Chr17:16713515..20340442 [GRCh38]
Chr17:16616829..20243755 [GRCh37]
Chr17:16557554..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3 copy number gain See cases [RCV000051872] Chr17:16760817..20429770 [GRCh38]
Chr17:16664131..20333083 [GRCh37]
Chr17:16604856..20273675 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3 copy number gain See cases [RCV000051873] Chr17:16760818..20504849 [GRCh38]
Chr17:16664132..20408162 [GRCh37]
Chr17:16604857..20348754 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3 copy number gain See cases [RCV000052476] Chr17:10892259..17964282 [GRCh38]
Chr17:10795576..17867596 [GRCh37]
Chr17:10736301..17808321 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3 copy number gain See cases [RCV000052477] Chr17:17667721..18301995 [GRCh38]
Chr17:17571035..18205309 [GRCh37]
Chr17:17511760..18146034 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1 copy number loss See cases [RCV000054329] Chr17:15952071..18362819 [GRCh38]
Chr17:15855385..18266133 [GRCh37]
Chr17:15796110..18206858 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 copy number loss See cases [RCV000054330] Chr17:16060129..20620841 [GRCh38]
Chr17:15963443..20524154 [GRCh37]
Chr17:15904168..20464746 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1 copy number loss See cases [RCV000054333] Chr17:16117885..18362819 [GRCh38]
Chr17:16021199..18266133 [GRCh37]
Chr17:15961924..18206858 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16361086-18219405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054335]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054335]|See cases [RCV000054335] Chr17:16361086..18219405 [GRCh38]
Chr17:16264400..18122719 [GRCh37]
Chr17:16205125..18063444 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1 copy number loss See cases [RCV000054337] Chr17:16760818..20390725 [GRCh38]
Chr17:16664132..20294038 [GRCh37]
Chr17:16604857..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1 copy number loss See cases [RCV000054339] Chr17:16817557..18362819 [GRCh38]
Chr17:16720871..18266133 [GRCh37]
Chr17:16661596..18206858 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1 copy number loss See cases [RCV000054355] Chr17:16836827..20465067 [GRCh38]
Chr17:16740141..20368380 [GRCh37]
Chr17:16680866..20308972 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 copy number loss See cases [RCV000054356] Chr17:16858444..20340442 [GRCh38]
Chr17:16761758..20243755 [GRCh37]
Chr17:16702483..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1 copy number loss See cases [RCV000054357] Chr17:16858444..20465067 [GRCh38]
Chr17:16761758..20368380 [GRCh37]
Chr17:16702483..20308972 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1 copy number loss See cases [RCV000054359] Chr17:17150076..18415759 [GRCh38]
Chr17:17053390..18319073 [GRCh37]
Chr17:16994115..18259798 [NCBI36]
Chr17:17p11.2
pathogenic
NM_001005291.2(SREBF1):c.261G>A (p.Gly87=) single nucleotide variant Malignant melanoma [RCV000063154] Chr17:17820442 [GRCh38]
Chr17:17723756 [GRCh37]
Chr17:17664481 [NCBI36]
Chr17:17p11.2
not provided
GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3 copy number gain See cases [RCV000133695] Chr17:16879232..20316151 [GRCh38]
Chr17:16782546..20219464 [GRCh37]
Chr17:16723271..20160056 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3 copy number gain See cases [RCV000134467] Chr17:16854250..20492169 [GRCh38]
Chr17:16757564..20395482 [GRCh37]
Chr17:16698289..20336074 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1 copy number loss See cases [RCV000135862] Chr17:17788412..18333372 [GRCh38]
Chr17:17691726..18236686 [GRCh37]
Chr17:17632451..18177411 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1 copy number loss See cases [RCV000135874] Chr17:17331511..20022528 [GRCh38]
Chr17:17234825..19925841 [GRCh37]
Chr17:17175550..19866433 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1 copy number loss See cases [RCV000135774] Chr17:16734588..18333372 [GRCh38]
Chr17:16637902..18236686 [GRCh37]
Chr17:16578627..18177411 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1 copy number loss See cases [RCV000135996] Chr17:16879233..20390697 [GRCh38]
Chr17:16782547..20294010 [GRCh37]
Chr17:16723272..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3 copy number gain See cases [RCV000135997] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1 copy number loss See cases [RCV000135998] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1 copy number loss See cases [RCV000136906] Chr17:16734588..20390725 [GRCh38]
Chr17:16637902..20294038 [GRCh37]
Chr17:16578627..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1 copy number loss See cases [RCV000136951] Chr17:16734588..20316151 [GRCh38]
Chr17:16637902..20219464 [GRCh37]
Chr17:16578627..20160056 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3 copy number gain See cases [RCV000137171] Chr17:15210400..18280816 [GRCh38]
Chr17:15113717..18184130 [GRCh37]
Chr17:15054442..18124855 [NCBI36]
Chr17:17p12-11.2
pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1 copy number loss See cases [RCV000137974] Chr17:16699816..20390725 [GRCh38]
Chr17:16603130..20294038 [GRCh37]
Chr17:16543855..20234630 [NCBI36]
Chr17:17p11.2
pathogenic|likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3 copy number gain See cases [RCV000138255] Chr17:16854250..20492214 [GRCh38]
Chr17:16757564..20395527 [GRCh37]
Chr17:16698289..20336119 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-19017784)x3 copy number gain See cases [RCV000138572] Chr17:17331511..19017784 [GRCh38]
Chr17:17234825..18921097 [GRCh37]
Chr17:17175550..18861822 [NCBI36]
Chr17:17p11.2
uncertain significance
GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1 copy number loss See cases [RCV000139239] Chr17:16989087..20370816 [GRCh38]
Chr17:16892401..20274129 [GRCh37]
Chr17:16833126..20214721 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3 copy number gain See cases [RCV000139243] Chr17:17748602..18551638 [GRCh38]
Chr17:17651916..18454952 [GRCh37]
Chr17:17592641..18395677 [NCBI36]
Chr17:17p11.2
likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3 copy number gain See cases [RCV000139188] Chr17:16854250..20560048 [GRCh38]
Chr17:16757564..20463361 [GRCh37]
Chr17:16698289..20403953 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3 copy number gain See cases [RCV000140217] Chr17:16699694..20530646 [GRCh38]
Chr17:16603008..20433959 [GRCh37]
Chr17:16543733..20374551 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 copy number loss See cases [RCV000139510] Chr17:15883037..20620700 [GRCh38]
Chr17:15786351..20524013 [GRCh37]
Chr17:15727076..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1 copy number loss See cases [RCV000139558] Chr17:16656162..20390697 [GRCh38]
Chr17:16559476..20294010 [GRCh37]
Chr17:16500201..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1 copy number loss See cases [RCV000141105] Chr17:17018951..20148630 [GRCh38]
Chr17:16922265..20051943 [GRCh37]
Chr17:16862990..19992535 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3 copy number gain See cases [RCV000140852] Chr17:16699816..20492214 [GRCh38]
Chr17:16603130..20395527 [GRCh37]
Chr17:16543855..20336119 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1 copy number loss See cases [RCV000141975] Chr17:16838097..20436415 [GRCh38]
Chr17:16741411..20339728 [GRCh37]
Chr17:16682136..20280320 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1 copy number loss See cases [RCV000141729] Chr17:17067833..19019419 [GRCh38]
Chr17:16971147..18922732 [GRCh37]
Chr17:16911872..18863457 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3 copy number gain See cases [RCV000142075] Chr17:16858500..20570955 [GRCh38]
Chr17:16761814..20474268 [GRCh37]
Chr17:16702539..20414860 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3 copy number gain See cases [RCV000142169] Chr17:15552362..19014200 [GRCh38]
Chr17:15455676..18917513 [GRCh37]
Chr17:15396401..18858238 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1 copy number loss See cases [RCV000142986] Chr17:16734588..18834703 [GRCh38]
Chr17:16637902..18738016 [GRCh37]
Chr17:16578627..18678741 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3 copy number gain See cases [RCV000143381] Chr17:16696708..20492860 [GRCh38]
Chr17:16600022..20396173 [GRCh37]
Chr17:16540747..20336765 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3 copy number gain See cases [RCV000143417] Chr17:16718415..20546210 [GRCh38]
Chr17:16621729..20449523 [GRCh37]
Chr17:16562454..20390115 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 copy number loss See cases [RCV000143210] Chr17:16858500..20559337 [GRCh38]
Chr17:16761814..20462650 [GRCh37]
Chr17:16702539..20403242 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 copy number loss See cases [RCV000143177] Chr17:15883037..20658018 [GRCh38]
Chr17:15786351..20561331 [GRCh37]
Chr17:15727076..20501923 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1 copy number loss See cases [RCV000143181] Chr17:16699816..20428292 [GRCh38]
Chr17:16603130..20331605 [GRCh37]
Chr17:16543855..20272197 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 copy number gain See cases [RCV000143715] Chr17:16426633..20998588 [GRCh38]
Chr17:16329947..20901901 [GRCh37]
Chr17:16270672..20842493 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 copy number loss See cases [RCV000143650] Chr17:15850859..20649235 [GRCh38]
Chr17:15754173..20552548 [GRCh37]
Chr17:15694898..20493140 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1 copy number loss See cases [RCV000143596] Chr17:16853120..20436482 [GRCh38]
Chr17:16756434..20339795 [GRCh37]
Chr17:16697159..20280387 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 copy number loss See cases [RCV000143485] Chr17:15729893..20510251 [GRCh38]
Chr17:15633207..20413564 [GRCh37]
Chr17:15573932..20354156 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1 copy number loss See cases [RCV000449069] Chr17:16603130..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17718204-17726877)x3 copy number gain Ductal breast carcinoma [RCV000207232] Chr17:17718204..17726877 [GRCh37]
Chr17:17p11.2
uncertain significance
NC_000017.10:g.17711738_217748468del200036731 deletion Smith-Magenis syndrome [RCV000235080] Chr17:17711738..17748468 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3 copy number gain See cases [RCV000240104] Chr17:15767020..20261250 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1 copy number loss See cases [RCV000239910] Chr17:17053390..19893098 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1 copy number loss See cases [RCV000240274] Chr17:16654302..20261250 [GRCh37]
Chr17:17p11.2
pathogenic
arr[hg19]17p11.2(16,757,111-20,219,651)x3 duplication Potocki-Lupski syndrome [RCV000591005] Chr17:16757111..20219651 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3 copy number gain See cases [RCV000449384] Chr17:16740141..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-18722974)x1 copy number loss See cases [RCV000449355] Chr17:16651292..18722974 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 copy number loss See cases [RCV000447345] Chr17:10771948..21510992 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1 copy number loss See cases [RCV000446498] Chr17:15745315..20261191 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20304295)x1 copy number loss See cases [RCV000446300] Chr17:16761814..20304295 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1 copy number loss See cases [RCV000446465] Chr17:16637902..20261250 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17262786-18250574)x3 copy number gain See cases [RCV000447624] Chr17:17262786..18250574 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741771-20430791)x3 copy number gain See cases [RCV000445753] Chr17:16741771..20430791 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1 copy number loss See cases [RCV000448145] Chr17:16757564..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20304154)x1 copy number loss See cases [RCV000448636] Chr17:16741411..20304154 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20449523)x1 copy number loss See cases [RCV000448404] Chr17:16741411..20449523 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20408379)x1 copy number loss See cases [RCV000447955] Chr17:16741411..20408379 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20462723)x1 copy number loss See cases [RCV000448752] Chr17:16761814..20462723 [GRCh37]
Chr17:17p11.2
pathogenic