CYP7A1 (cytochrome P450 family 7 subfamily A member 1) - Rat Genome Database

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Gene: CYP7A1 (cytochrome P450 family 7 subfamily A member 1) Homo sapiens
Analyze
Symbol: CYP7A1
Name: cytochrome P450 family 7 subfamily A member 1
RGD ID: 69210
HGNC Page HGNC:2651
Description: Enables cholesterol 7-alpha-monooxygenase activity. Involved in bile acid biosynthetic process; cellular response to glucose stimulus; and regulation of bile acid biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in intracellular membrane-bounded organelle. Biomarker of metabolic dysfunction-associated steatohepatitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 24-hydroxycholesterol 7-alpha-hydroxylase; cholesterol 7-alpha-hydroxylase; cholesterol 7-alpha-monooxygenase; cholesterol 7alpha-hydroxylase; CP7A; CYP7; CYPVII; cytochrome P450 7A1; cytochrome P450, family 7, subfamily A, polypeptide 1; cytochrome P450, subfamily VIIA polypeptide 1; MGC126826; MGC138389
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38858,490,178 - 58,500,163 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl858,490,178 - 58,500,163 (-)EnsemblGRCh38hg38GRCh38
GRCh37859,402,737 - 59,412,722 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36859,565,292 - 59,575,275 (-)NCBINCBI36Build 36hg18NCBI36
Build 34859,565,291 - 59,575,275NCBI
Celera855,395,751 - 55,405,734 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef854,889,962 - 54,899,885 (-)NCBIHuRef
CHM1_1859,454,626 - 59,464,609 (-)NCBICHM1_1
T2T-CHM13v2.0858,911,316 - 58,921,301 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (ISO)
(24S)-24-hydroxycholesterol  (EXP)
(25R)-cholest-5-ene-3beta,26-diol  (EXP,ISO)
(E)-thiamethoxam  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,3,7,9-tetramethyluric acid  (ISO)
1,4-dithiothreitol  (ISO)
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
1H-pyrazole  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-arachidonoylglycerol  (EXP,ISO)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (ISO)
20-hydroxycholesterol  (EXP,ISO)
25-hydroxycholesterol  (EXP,ISO)
26-hydroxycholesterol  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol  (ISO)
3-phenylprop-2-enal  (EXP)
4,4'-sulfonyldiphenol  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
7-ketocholesterol  (ISO)
7alpha-hydroxycholesterol  (ISO)
8-Epidiosbulbin E acetate  (ISO)
acrylamide  (ISO)
Actein  (ISO)
aflatoxin B1  (EXP,ISO)
alfacalcidol  (ISO)
all-trans-retinoic acid  (EXP,ISO)
allopurinol  (ISO)
AM-251  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphibole asbestos  (EXP)
amphotericin B  (ISO)
ampicillin  (ISO)
angelicin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
atazanavir sulfate  (EXP)
atorvastatin calcium  (ISO)
atrazine  (ISO)
Augmentin  (EXP)
azoxystrobin  (EXP)
Benoxacor  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzo[b]fluorene  (ISO)
beta-hexachlorocyclohexane  (EXP,ISO)
beta-naphthoflavone  (EXP)
bezafibrate  (EXP,ISO)
bilirubin IXalpha  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bosentan  (EXP)
bromobenzene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcipotriol  (EXP)
calcitriol  (EXP)
carbendazim  (EXP)
carbon nanotube  (ISO)
carnosic acid  (ISO)
carvedilol  (ISO)
chenodeoxycholic acid  (EXP,ISO)
chitosan  (ISO)
chlormequat chloride  (EXP)
chloroquine  (EXP)
chlorpyrifos  (EXP,ISO)
cholate  (EXP,ISO)
cholesta-5,7-dien-3beta-ol  (ISO)
cholesterol  (EXP,ISO)
cholic acid  (EXP,ISO)
chrysophanol  (ISO)
ciguatoxin CTX1B  (ISO)
clavulanic acid  (EXP)
clofibrate  (ISO)
clothianidin  (ISO)
cobalt atom  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
corn oil  (ISO)
coumarin  (ISO)
cyclosporin A  (EXP,ISO)
cyproconazole  (EXP,ISO)
cyprodinil  (EXP)
cysteamine  (ISO)
DDE  (EXP,ISO)
deoxycholic acid  (EXP,ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
difenoconazole  (EXP)
dihydroartemisinin  (ISO)
dihydroxyacetone  (EXP)
Diisodecyl phthalate  (ISO)
dimethomorph  (EXP)
dimethyl sulfoxide  (ISO)
Diosbulbin B  (EXP,ISO)
diosgenin  (ISO)
dioxygen  (EXP)
disodium selenite  (ISO)
elemental selenium  (ISO)
emodin  (ISO)
endosulfan  (EXP,ISO)
enilconazole  (EXP,ISO)
Epomediol  (ISO)
epoxiconazole  (EXP,ISO)
ethambutol  (EXP,ISO)
ethanol  (ISO)
ethoprophos  (EXP)
fenbuconazole  (EXP)
fenhexamid  (EXP)
fenofibrate  (EXP,ISO)
fenpyroximate  (EXP)
fenvalerate  (ISO)
Fexaramine  (ISO)
fipronil  (EXP)
fisetin  (ISO)
flavonoids  (ISO)
fludioxonil  (EXP)
flusilazole  (EXP)
flutamide  (ISO)
fluxapyroxad  (EXP)
furan  (ISO)
gemfibrozil  (EXP)
genistein  (ISO)
Gentiopicrin  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
glycyrrhizinic acid  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
graphene oxide  (ISO)
guggulsterone  (EXP,ISO)
GW 3965  (ISO)
GW 4064  (EXP,ISO)
Heliotrine  (EXP)
hexadecanoic acid  (EXP)
hyperforin  (EXP)
icariside II  (EXP,ISO)
imipenem hydrate  (ISO)
indoxyl sulfate  (EXP)
iprodione  (EXP)
isoniazide  (EXP,ISO)
kaempferol  (EXP)
ketoconazole  (ISO)
kojic acid  (ISO)
L-1,4-dithiothreitol  (ISO)
L-ascorbic acid  (ISO)
Lasiocarpine  (EXP)
lead nitrate  (ISO)
lead(0)  (ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (EXP,ISO)
loperamide  (ISO)
magnesium atom  (ISO)
maneb  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
melatonin  (ISO)
mercaptoethanol  (ISO)
mercury atom  (ISO)
mercury(0)  (ISO)
metacetamol  (ISO)
metalaxyl  (EXP)
metformin  (ISO)
methapyrilene  (ISO)
methotrexate  (EXP,ISO)
methoxsalen  (EXP,ISO)
methoxychlor  (ISO)
metronidazole  (ISO)
monocrotaline  (ISO)
monocrotophos  (ISO)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (EXP)
neomycin  (ISO)
nickel atom  (ISO)
nitrofen  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (EXP,ISO)
okadaic acid  (EXP)
oleanolic acid  (ISO)
oleic acid  (EXP,ISO)
orphenadrine  (ISO)
oxybenzone  (ISO)
p-chloromercuribenzoic acid  (ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
parathion  (ISO)
pentachlorophenol  (ISO)
perflubutane  (ISO)
perfluorobutanesulfonic acid  (ISO)
perfluorobutyric acid  (ISO)
perfluorodecanoic acid  (EXP,ISO)
perfluorododecanoic acid  (EXP,ISO)
perfluoroheptanoic acid  (EXP)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorohexanoic acid  (EXP)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanesulfonamide  (EXP)
perfluorooctanoic acid  (EXP,ISO)
perfluoropentanoic acid  (EXP)
perfluoroundecanoic acid  (EXP)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
phenytoin  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
phosphatidylcholine  (ISO)
pioglitazone  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prochloraz  (EXP)
procymidone  (ISO)
propiconazole  (EXP,ISO)
prothioconazole  (ISO)
Prothioconazole-desthio  (ISO)
psoralen  (ISO)
puerarin  (ISO)
PX-866  (ISO)
pyrazinecarboxamide  (EXP,ISO)
pyrrolidines  (ISO)
resveratrol  (ISO)
rifampicin  (EXP,ISO)
rifaximin  (EXP)
ritonavir  (EXP,ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
Salidroside  (ISO)
saracatinib  (EXP)
selenium atom  (ISO)
senecionine  (EXP,ISO)
Senkirkine  (EXP)
sevoflurane  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium cholate  (ISO)
sodium dichromate  (ISO)
soybean oil  (ISO)
spironolactone  (ISO)
streptozocin  (ISO)
sulfluramid  (EXP)
sulforaphane  (EXP)
Sunset Yellow FCF  (EXP)
tamoxifen  (ISO)
tartrazine  (EXP)
taurocholic acid  (ISO)
tauroursodeoxycholic acid  (ISO)
tebuconazole  (EXP)
tectorigenin  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thiacloprid  (EXP,ISO)
thiamethoxam  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tris(2-chloroethyl) phosphate  (ISO)
troglitazone  (EXP,ISO)
trovafloxacin  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (EXP,ISO)
usnic acid  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
Yangonin  (ISO)
zinc atom  (EXP,ISO)
zinc pyrithione  (EXP)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The nuclear receptor SHP mediates inhibition of hepatic stellate cells by FXR and protects against liver fibrosis. Fiorucci S, etal., Gastroenterology. 2004 Nov;127(5):1497-512. doi: 10.1053/j.gastro.2004.08.001.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Exploration of Hepatoprotective Effect of Gentiopicroside on Alpha-Naphthylisothiocyanate-Induced Cholestatic Liver Injury in Rats by Comprehensive Proteomic and Metabolomic Signatures. Han H, etal., Cell Physiol Biochem. 2018;49(4):1304-1319. doi: 10.1159/000493409. Epub 2018 Sep 17.
4. Pre-germinated brown rice extract ameliorates high-fat diet-induced metabolic syndrome. Hao CL, etal., J Food Biochem. 2019 Mar;43(3):e12769. doi: 10.1111/jfbc.12769. Epub 2019 Jan 13.
5. Farnesoid X receptor agonist INT-767 attenuates liver steatosis and inflammation in rat model of nonalcoholic steatohepatitis. Hu YB, etal., Drug Des Devel Ther. 2018 Jul 16;12:2213-2221. doi: 10.2147/DDDT.S170518. eCollection 2018.
6. Alisma orientale extract exerts the reversing cholestasis effect by activation of farnesoid X receptor. Huo XK, etal., Phytomedicine. 2018 Mar 15;42:34-42. doi: 10.1016/j.phymed.2018.03.017. Epub 2018 Mar 8.
7. Suppressed hepatic bile acid signalling despite elevated production of primary and secondary bile acids in NAFLD. Jiao N, etal., Gut. 2018 Oct;67(10):1881-1891. doi: 10.1136/gutjnl-2017-314307. Epub 2017 Aug 3.
8. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Increased hepatic ABCA1 transporter is associated with hypercholesterolemia in a cholestatic rat model and primary biliary cholangitis patients. Takeyama Y, etal., Med Mol Morphol. 2017 Dec;50(4):227-237. doi: 10.1007/s00795-017-0166-7. Epub 2017 Jun 28.
14. Dihydroartemisinin protects against alcoholic liver injury through alleviating hepatocyte steatosis in a farnesoid X receptor-dependent manner. Xu W, etal., Toxicol Appl Pharmacol. 2017 Jan 15;315:23-34. doi: 10.1016/j.taap.2016.12.001. Epub 2016 Dec 6.
15. Puerarin decreases serum total cholesterol and enhances thoracic aorta endothelial nitric oxide synthase expression in diet-induced hypercholesterolemic rats. Yan LP, etal., Life Sci. 2006 Jun 20;79(4):324-30. doi: 10.1016/j.lfs.2006.01.016. Epub 2006 Feb 10.
16. Modulation of transport and metabolism of bile acids and bilirubin by chlorogenic acid against hepatotoxicity and cholestasis in bile duct ligation rats: involvement of SIRT1-mediated deacetylation of FXR and PGC-1α. Zhu L, etal., J Hepatobiliary Pancreat Sci. 2018 Mar;25(3):195-205. doi: 10.1002/jhbp.537.
Additional References at PubMed
PMID:1312351   PMID:1358792   PMID:1610352   PMID:2384150   PMID:7288293   PMID:8020987   PMID:8439551   PMID:8504159   PMID:9559267   PMID:10359768   PMID:10882719   PMID:11257258  
PMID:11907135   PMID:12011083   PMID:12077124   PMID:12093884   PMID:12093894   PMID:12116231   PMID:12202481   PMID:12213890   PMID:12477932   PMID:12554795   PMID:12721789   PMID:12810154  
PMID:12815072   PMID:12865425   PMID:14515446   PMID:14522988   PMID:14592954   PMID:14762172   PMID:15128046   PMID:15133863   PMID:15205472   PMID:15241483   PMID:15262185   PMID:15333704  
PMID:15489334   PMID:15640003   PMID:15707388   PMID:15736936   PMID:15752749   PMID:15796896   PMID:15805302   PMID:15910869   PMID:16115473   PMID:16630139   PMID:16709249   PMID:16763159  
PMID:16892178   PMID:16917677   PMID:16937432   PMID:17680536   PMID:17920062   PMID:18078817   PMID:18178499   PMID:18270374   PMID:18307386   PMID:18385139   PMID:18660489   PMID:18665040  
PMID:18728123   PMID:18728290   PMID:18996102   PMID:19018779   PMID:19185005   PMID:19343046   PMID:19448895   PMID:19463968   PMID:19537927   PMID:19558216   PMID:19598235   PMID:19850125  
PMID:19956635   PMID:19965590   PMID:20005541   PMID:20031551   PMID:20235787   PMID:20351063   PMID:20403997   PMID:20578904   PMID:20602615   PMID:20686565   PMID:20717043   PMID:20857261  
PMID:20872969   PMID:20884100   PMID:21039385   PMID:21147774   PMID:21346769   PMID:21813643   PMID:21873635   PMID:21902813   PMID:22058145   PMID:22235657   PMID:22607622   PMID:22713451  
PMID:23038264   PMID:23354620   PMID:23458092   PMID:23626788   PMID:23740208   PMID:24097068   PMID:24365583   PMID:24582860   PMID:24927729   PMID:25103562   PMID:25360185   PMID:25499945  
PMID:25944972   PMID:26333513   PMID:26345803   PMID:26521940   PMID:26936139   PMID:27052530   PMID:27106353   PMID:27155186   PMID:27534992   PMID:29115200   PMID:29171472   PMID:29237721  
PMID:29529257   PMID:29721023   PMID:29920211   PMID:30122083   PMID:30354296   PMID:31578885   PMID:34546511   PMID:34845882   PMID:35526572   PMID:36949699   PMID:38154545   PMID:38485279  


Genomics

Comparative Map Data
CYP7A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38858,490,178 - 58,500,163 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl858,490,178 - 58,500,163 (-)EnsemblGRCh38hg38GRCh38
GRCh37859,402,737 - 59,412,722 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36859,565,292 - 59,575,275 (-)NCBINCBI36Build 36hg18NCBI36
Build 34859,565,291 - 59,575,275NCBI
Celera855,395,751 - 55,405,734 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef854,889,962 - 54,899,885 (-)NCBIHuRef
CHM1_1859,454,626 - 59,464,609 (-)NCBICHM1_1
T2T-CHM13v2.0858,911,316 - 58,921,301 (-)NCBIT2T-CHM13v2.0
Cyp7a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3946,265,612 - 6,275,632 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl46,265,612 - 6,275,633 (-)EnsemblGRCm39 Ensembl
GRCm3846,265,612 - 6,275,632 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl46,265,612 - 6,275,633 (-)EnsemblGRCm38mm10GRCm38
MGSCv3746,192,759 - 6,202,778 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3646,192,759 - 6,202,778 (-)NCBIMGSCv36mm8
Celera46,185,007 - 6,195,027 (-)NCBICelera
Cytogenetic Map4A1NCBI
cM Map42.91NCBI
Cyp7a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8524,174,505 - 24,184,202 (-)NCBIGRCr8
mRatBN7.2519,376,979 - 19,386,676 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl519,376,974 - 19,386,688 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx521,584,097 - 21,593,795 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0523,169,474 - 23,179,158 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0522,949,785 - 22,959,469 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0519,358,734 - 19,368,431 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl519,358,734 - 19,368,431 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0524,143,589 - 24,153,286 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4519,707,159 - 19,716,856 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1519,707,158 - 19,716,856 (-)NCBI
Celera518,677,267 - 18,686,964 (-)NCBICelera
Cytogenetic Map5q12NCBI
LOC102008593
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545417,036,204 - 17,042,756 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545417,035,105 - 17,078,854 (-)NCBIChiLan1.0ChiLan1.0
CYP7A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2774,184,135 - 74,194,121 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1849,837,992 - 49,847,979 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0854,942,509 - 54,952,500 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1856,593,799 - 56,603,933 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl856,593,799 - 56,604,037 (-)Ensemblpanpan1.1panPan2
CYP7A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1299,285,315 - 9,295,895 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl299,286,181 - 9,332,310 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha299,598,242 - 9,625,248 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0299,370,713 - 9,397,915 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl299,371,580 - 9,417,428 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1299,368,643 - 9,395,863 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0299,494,537 - 9,521,733 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0299,773,555 - 9,801,001 (-)NCBIUU_Cfam_GSD_1.0
LOC101970910
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530370,179,849 - 70,187,118 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364964,599,138 - 4,605,653 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364964,599,138 - 4,605,653 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYP7A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl474,343,123 - 74,372,621 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1474,343,101 - 74,372,628 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2481,137,378 - 81,166,790 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CYP7A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1854,475,801 - 54,489,329 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl854,477,105 - 54,485,649 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603987,237,971 - 87,247,876 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101701685
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474433,612,901 - 33,619,869 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474433,563,564 - 33,619,851 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYP7A1
163 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000780.4(CYP7A1):c.578C>T (p.Thr193Ile) single nucleotide variant CYP7A1-related disorder [RCV004753018]|not provided [RCV000729753] Chr8:58496934 [GRCh38]
Chr8:59409493 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1238_1239del (p.Leu413fs) deletion not provided [RCV000727683] Chr8:58491751..58491752 [GRCh38]
Chr8:59404310..59404311 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.763G>A (p.Glu255Lys) single nucleotide variant not provided [RCV000729483] Chr8:58496749 [GRCh38]
Chr8:59409308 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1077C>T (p.Ala359=) single nucleotide variant not provided [RCV000729555] Chr8:58492491 [GRCh38]
Chr8:59405050 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.318G>A (p.Ala106=) single nucleotide variant not provided [RCV000728345] Chr8:58498232 [GRCh38]
Chr8:59410791 [GRCh37]
Chr8:8q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000780.4(CYP7A1):c.165C>T (p.Phe55=) single nucleotide variant not provided [RCV000729084] Chr8:58498385 [GRCh38]
Chr8:59410944 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.583C>T (p.Arg195Trp) single nucleotide variant not provided [RCV000729085] Chr8:58496929 [GRCh38]
Chr8:59409488 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.157C>T (p.Leu53Phe) single nucleotide variant not provided [RCV000727970]|not specified [RCV004026938] Chr8:58498393 [GRCh38]
Chr8:59410952 [GRCh37]
Chr8:8q12.1		 likely benign|uncertain significance
NM_000780.4(CYP7A1):c.1409T>C (p.Ile470Thr) single nucleotide variant CYP7A1-related disorder [RCV003965508]|not provided [RCV000728754] Chr8:58491581 [GRCh38]
Chr8:59404140 [GRCh37]
Chr8:8q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13		 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 8q12.1(chr8:55423413-58836753)x1 copy number loss See cases [RCV000054240] Chr8:55423413..58836753 [GRCh38]
Chr8:56335973..59749312 [GRCh37]
Chr8:56498527..59911866 [NCBI36]
Chr8:8q12.1		 pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1 copy number loss See cases [RCV000054241] Chr8:56925812..61691859 [GRCh38]
Chr8:57838371..62604418 [GRCh37]
Chr8:58000925..62766972 [NCBI36]
Chr8:8q12.1-12.3		 pathogenic
NM_000780.3(CYP7A1):c.275G>A (p.Gly92Glu) single nucleotide variant Malignant melanoma [RCV000068356] Chr8:58498275 [GRCh38]
Chr8:59410834 [GRCh37]
Chr8:59573388 [NCBI36]
Chr8:8q12.1		 not provided
NM_000780.4(CYP7A1):c.907A>T (p.Arg303Trp) single nucleotide variant not provided [RCV000122470] Chr8:58496605 [GRCh38]
Chr8:59409164 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2		 pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 copy number gain See cases [RCV000137672] Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3		 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 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1 copy number loss See cases [RCV000140643] Chr8:54821357..61146302 [GRCh38]
Chr8:55733917..62058861 [GRCh37]
Chr8:55896471..62221415 [NCBI36]
Chr8:8q12.1-12.2		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3		 pathogenic
NM_000780.4(CYP7A1):c.108T>A (p.Asn36Lys) single nucleotide variant CYP7A1-related disorder [RCV004752825]|not provided [RCV000338265] Chr8:58498442 [GRCh38]
Chr8:59411001 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1357G>A (p.Glu453Lys) single nucleotide variant not provided [RCV000305369] Chr8:58491633 [GRCh38]
Chr8:59404192 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1292A>G (p.Lys431Arg) single nucleotide variant CYP7A1-related disorder [RCV003977787]|not provided [RCV000338273] Chr8:58491698 [GRCh38]
Chr8:59404257 [GRCh37]
Chr8:8q12.1		 likely benign|uncertain significance
NM_000780.4(CYP7A1):c.81-10T>C single nucleotide variant not provided [RCV000375844] Chr8:58498479 [GRCh38]
Chr8:59411038 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1003T>C (p.Leu335=) single nucleotide variant not provided [RCV000349634] Chr8:58494542 [GRCh38]
Chr8:59407101 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.427G>A (p.Glu143Lys) single nucleotide variant not provided [RCV000315439] Chr8:58497085 [GRCh38]
Chr8:59409644 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.490G>A (p.Ala164Thr) single nucleotide variant not provided [RCV000390157] Chr8:58497022 [GRCh38]
Chr8:59409581 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.779G>T (p.Arg260Leu) single nucleotide variant CYP7A1-related disorder [RCV004752828]|not provided [RCV000324317] Chr8:58496733 [GRCh38]
Chr8:59409292 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.909-4A>C single nucleotide variant not provided [RCV000396585] Chr8:58494640 [GRCh38]
Chr8:59407199 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala) single nucleotide variant CYP7A1-related disorder [RCV003940052]|not provided [RCV000886346]|not specified [RCV000368943] Chr8:58492376 [GRCh38]
Chr8:59404935 [GRCh37]
Chr8:8q12.1		 likely benign|conflicting interpretations of pathogenicity
NM_000780.4(CYP7A1):c.133G>T (p.Ala45Ser) single nucleotide variant not provided [RCV000598476] Chr8:58498417 [GRCh38]
Chr8:59410976 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.900A>G (p.Gln300=) single nucleotide variant not provided [RCV000592180] Chr8:58496612 [GRCh38]
Chr8:59409171 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.988G>A (p.Gly330Ser) single nucleotide variant CYP7A1-related disorder [RCV003935627]|not provided [RCV000592220] Chr8:58494557 [GRCh38]
Chr8:59407116 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.124C>T (p.Leu42=) single nucleotide variant not provided [RCV000591873] Chr8:58498426 [GRCh38]
Chr8:59410985 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.297A>G (p.Lys99=) single nucleotide variant not provided [RCV002062001]|not specified [RCV000598516] Chr8:58498253 [GRCh38]
Chr8:59410812 [GRCh37]
Chr8:8q12.1		 benign|likely benign
NM_000780.4(CYP7A1):c.1382T>C (p.Met461Thr) single nucleotide variant not provided [RCV000592678] Chr8:58491608 [GRCh38]
Chr8:59404167 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1384C>G (p.Leu462Val) single nucleotide variant not provided [RCV000592851] Chr8:58491606 [GRCh38]
Chr8:59404165 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val) single nucleotide variant CYP7A1-related disorder [RCV003905518]|not provided [RCV000593135] Chr8:58500061 [GRCh38]
Chr8:59412620 [GRCh37]
Chr8:8q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000780.4(CYP7A1):c.843G>A (p.Val281=) single nucleotide variant not provided [RCV000595946] Chr8:58496669 [GRCh38]
Chr8:59409228 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.206G>T (p.Cys69Phe) single nucleotide variant not provided [RCV000593605] Chr8:58498344 [GRCh38]
Chr8:59410903 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1059G>A (p.Ser353=) single nucleotide variant not provided [RCV002062002]|not specified [RCV000593781] Chr8:58492509 [GRCh38]
Chr8:59405068 [GRCh37]
Chr8:8q12.1		 benign|likely benign
NM_000780.4(CYP7A1):c.*5A>G single nucleotide variant not provided [RCV000591224] Chr8:58491470 [GRCh38]
Chr8:59404029 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.937G>A (p.Glu313Lys) single nucleotide variant CYP7A1-related disorder [RCV004752958]|not provided [RCV000597848] Chr8:58494608 [GRCh38]
Chr8:59407167 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1215+3A>G single nucleotide variant not provided [RCV000591534] Chr8:58492350 [GRCh38]
Chr8:59404909 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.123C>T (p.Tyr41=) single nucleotide variant CYP7A1-related disorder [RCV003905559]|not provided [RCV000591597] Chr8:58498427 [GRCh38]
Chr8:59410986 [GRCh37]
Chr8:8q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000780.4(CYP7A1):c.1091G>A (p.Arg364Gln) single nucleotide variant not provided [RCV000730188]|not specified [RCV004026989] Chr8:58492477 [GRCh38]
Chr8:59405036 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.25G>A (p.Gly9Arg) single nucleotide variant CYP7A1-related disorder [RCV003892662]|not provided [RCV000733746] Chr8:58500074 [GRCh38]
Chr8:59412633 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1473A>G (p.Pro491=) single nucleotide variant not provided [RCV000733164] Chr8:58491517 [GRCh38]
Chr8:59404076 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.908+6T>G single nucleotide variant not provided [RCV000732445] Chr8:58496598 [GRCh38]
Chr8:59409157 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.498G>A (p.Trp166Ter) single nucleotide variant not provided [RCV000734574] Chr8:58497014 [GRCh38]
Chr8:59409573 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.*6_*7delinsAAT indel not provided [RCV000734584] Chr8:58491468..58491469 [GRCh38]
Chr8:59404027..59404028 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.322G>A (p.Ala108Thr) single nucleotide variant not provided [RCV000734630]|not specified [RCV004027088] Chr8:58497190 [GRCh38]
Chr8:59409749 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.191G>A (p.Gly64Asp) single nucleotide variant not provided [RCV000731655] Chr8:58498359 [GRCh38]
Chr8:59410918 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.346C>T (p.Pro116Ser) single nucleotide variant not provided [RCV000732628] Chr8:58497166 [GRCh38]
Chr8:59409725 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1215+8C>T single nucleotide variant CYP7A1-related disorder [RCV003892647]|not provided [RCV000732716] Chr8:58492345 [GRCh38]
Chr8:59404904 [GRCh37]
Chr8:8q12.1		 likely benign|uncertain significance
NM_000780.4(CYP7A1):c.704G>A (p.Arg235Gln) single nucleotide variant not provided [RCV000731674] Chr8:58496808 [GRCh38]
Chr8:59409367 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1447C>T (p.Arg483Trp) single nucleotide variant not provided [RCV000731822]|not specified [RCV004027019] Chr8:58491543 [GRCh38]
Chr8:59404102 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.317C>A (p.Ala106Glu) single nucleotide variant not provided [RCV000731926] Chr8:58498233 [GRCh38]
Chr8:59410792 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.818T>C (p.Leu273Pro) single nucleotide variant not provided [RCV000727980] Chr8:58496694 [GRCh38]
Chr8:59409253 [GRCh37]
Chr8:8q12.1		 uncertain significance
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 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 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_000780.4(CYP7A1):c.722G>A (p.Ser241Asn) single nucleotide variant not provided [RCV003777066]|not specified [RCV004318040] Chr8:58496790 [GRCh38]
Chr8:59409349 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.423C>G (p.Leu141=) single nucleotide variant not provided [RCV000595790] Chr8:58497089 [GRCh38]
Chr8:59409648 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1129G>A (p.Gly377Ser) single nucleotide variant CYP7A1-related disorder [RCV004752962]|not provided [RCV000597302] Chr8:58492439 [GRCh38]
Chr8:59404998 [GRCh37]
Chr8:8q12.1		 uncertain significance
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 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_000780.4(CYP7A1):c.256C>A (p.His86Asn) single nucleotide variant not provided [RCV000963911] Chr8:58498294 [GRCh38]
Chr8:59410853 [GRCh37]
Chr8:8q12.1		 benign|likely benign
NM_000780.4(CYP7A1):c.653C>A (p.Ala218Asp) single nucleotide variant not specified [RCV004295715] Chr8:58496859 [GRCh38]
Chr8:59409418 [GRCh37]
Chr8:8q12.1		 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 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
NM_000780.4(CYP7A1):c.1304T>C (p.Met435Thr) single nucleotide variant not provided [RCV003720828]|not specified [RCV004300578] Chr8:58491686 [GRCh38]
Chr8:59404245 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1216-13A>G single nucleotide variant not provided [RCV001620854] Chr8:58491787 [GRCh38]
Chr8:59404346 [GRCh37]
Chr8:8q12.1		 benign
NC_000008.11:g.58500365G>T single nucleotide variant not provided [RCV001609749] Chr8:58500365 [GRCh38]
Chr8:58500365..58500366 [GRCh38]
Chr8:59412924 [GRCh37]
Chr8:59412924..59412925 [GRCh37]
Chr8:8q12.1		 benign
NM_000780.4(CYP7A1):c.81-6T>C single nucleotide variant not provided [RCV000886416] Chr8:58498475 [GRCh38]
Chr8:59411034 [GRCh37]
Chr8:8q12.1		 benign|likely benign
NM_000780.4(CYP7A1):c.1248C>T (p.Asn416=) single nucleotide variant not provided [RCV000956619] Chr8:58491742 [GRCh38]
Chr8:59404301 [GRCh37]
Chr8:8q12.1		 benign|likely benign
NM_000780.4(CYP7A1):c.225T>C (p.Tyr75=) single nucleotide variant not provided [RCV000956620] Chr8:58498325 [GRCh38]
Chr8:59410884 [GRCh37]
Chr8:8q12.1		 benign|likely benign
NM_000780.4(CYP7A1):c.321+156G>A single nucleotide variant not provided [RCV001676108] Chr8:58498073 [GRCh38]
Chr8:59410632 [GRCh37]
Chr8:8q12.1		 benign
NM_000780.4(CYP7A1):c.321+33T>C single nucleotide variant not provided [RCV001619246] Chr8:58498196 [GRCh38]
Chr8:59410755 [GRCh37]
Chr8:8q12.1		 benign
NM_000780.4(CYP7A1):c.322-180T>G single nucleotide variant not provided [RCV001676757] Chr8:58497370 [GRCh38]
Chr8:59409929 [GRCh37]
Chr8:8q12.1		 benign
NM_000780.4(CYP7A1):c.322-269A>G single nucleotide variant not provided [RCV001648993] Chr8:58497459 [GRCh38]
Chr8:59410018 [GRCh37]
Chr8:8q12.1		 benign
NM_000780.4(CYP7A1):c.413T>C (p.Leu138Ser) single nucleotide variant CYP7A1-related disorder [RCV004753753]|not specified [RCV004608617] Chr8:58497099 [GRCh38]
Chr8:59409658 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.959del (p.Glu320fs) deletion not provided [RCV001383183] Chr8:58494586 [GRCh38]
Chr8:59407145 [GRCh37]
Chr8:8q12.1		 pathogenic
NM_000780.4(CYP7A1):c.81-14C>T single nucleotide variant not provided [RCV001649032] Chr8:58498483 [GRCh38]
Chr8:58498483..58498484 [GRCh38]
Chr8:59411042 [GRCh37]
Chr8:59411042..59411043 [GRCh37]
Chr8:8q12.1		 benign
NM_000780.4(CYP7A1):c.322-11T>C single nucleotide variant not provided [RCV001669334] Chr8:58497201 [GRCh38]
Chr8:59409760 [GRCh37]
Chr8:8q12.1		 benign
NM_000780.4(CYP7A1):c.1216-108T>C single nucleotide variant not provided [RCV001618008] Chr8:58491882 [GRCh38]
Chr8:59404441 [GRCh37]
Chr8:8q12.1		 benign
NM_000780.4(CYP7A1):c.682T>G (p.Phe228Val) single nucleotide variant not provided [RCV003108976] Chr8:58496830 [GRCh38]
Chr8:59409389 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.908+31dup duplication not provided [RCV001769572] Chr8:58496572..58496573 [GRCh38]
Chr8:59409131..59409132 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.1040-17del deletion not provided [RCV001769573] Chr8:58492545 [GRCh38]
Chr8:59405104 [GRCh37]
Chr8:8q12.1		 benign|likely benign
NM_000780.4(CYP7A1):c.1039+11T>C single nucleotide variant not provided [RCV001753205] Chr8:58494495 [GRCh38]
Chr8:59407054 [GRCh37]
Chr8:8q12.1		 benign|likely benign
NM_000780.4(CYP7A1):c.322-198G>A single nucleotide variant not provided [RCV001774841] Chr8:58497388 [GRCh38]
Chr8:59409947 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.322-276T>C single nucleotide variant not provided [RCV001774842] Chr8:58497466 [GRCh38]
Chr8:59410025 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.1216-163G>A single nucleotide variant not provided [RCV001757715] Chr8:58491937 [GRCh38]
Chr8:59404496 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.1039+181A>G single nucleotide variant not provided [RCV001757733] Chr8:58494325 [GRCh38]
Chr8:59406884 [GRCh37]
Chr8:8q12.1		 likely benign
GRCh37/hg19 8q12.1(chr8:58247706-60355217) copy number loss not specified [RCV002053765] Chr8:58247706..60355217 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.671C>T (p.Pro224Leu) single nucleotide variant not provided [RCV001932006] Chr8:58496841 [GRCh38]
Chr8:59409400 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.186A>C (p.Lys62Asn) single nucleotide variant not provided [RCV002050429] Chr8:58498364 [GRCh38]
Chr8:59410923 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1175A>G (p.Gln392Arg) single nucleotide variant not provided [RCV002029673]|not specified [RCV004612107] Chr8:58492393 [GRCh38]
Chr8:59404952 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.698A>G (p.Asn233Ser) single nucleotide variant not provided [RCV002112283] Chr8:58496814 [GRCh38]
Chr8:59409373 [GRCh37]
Chr8:8q12.1		 benign
NM_000780.4(CYP7A1):c.87G>A (p.Thr29=) single nucleotide variant not provided [RCV002125128] Chr8:58498463 [GRCh38]
Chr8:59411022 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.453T>C (p.Arg151=) single nucleotide variant not provided [RCV002117007] Chr8:58497059 [GRCh38]
Chr8:59409618 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.1039G>A (p.Asp347Asn) single nucleotide variant not provided [RCV002197440] Chr8:58494506 [GRCh38]
Chr8:59407065 [GRCh37]
Chr8:8q12.1		 benign
NM_000780.4(CYP7A1):c.840C>T (p.Leu280=) single nucleotide variant CYP7A1-related disorder [RCV004753528]|not provided [RCV002133998] Chr8:58496672 [GRCh38]
Chr8:59409231 [GRCh37]
Chr8:8q12.1		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_000780.4(CYP7A1):c.1215+13C>T single nucleotide variant not provided [RCV002164663] Chr8:58492340 [GRCh38]
Chr8:59404899 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.320A>C (p.Lys107Thr) single nucleotide variant not provided [RCV003115403] Chr8:58498230 [GRCh38]
Chr8:59410789 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.581G>A (p.Arg194Lys) single nucleotide variant not specified [RCV004108366] Chr8:58496931 [GRCh38]
Chr8:59409490 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1469C>T (p.Pro490Leu) single nucleotide variant not provided [RCV002994602] Chr8:58491521 [GRCh38]
Chr8:59404080 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1119C>G (p.His373Gln) single nucleotide variant not provided [RCV002993815]|not specified [RCV004065192] Chr8:58492449 [GRCh38]
Chr8:59405008 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1214T>G (p.Leu405Trp) single nucleotide variant not provided [RCV003777718]|not specified [RCV004100547] Chr8:58492354 [GRCh38]
Chr8:59404913 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.306T>C (p.Phe102=) single nucleotide variant not provided [RCV002780399] Chr8:58498244 [GRCh38]
Chr8:59410803 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.12A>G (p.Thr4=) single nucleotide variant not provided [RCV002910188] Chr8:58500087 [GRCh38]
Chr8:59412646 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.908+12C>T single nucleotide variant not provided [RCV002569736] Chr8:58496592 [GRCh38]
Chr8:59409151 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.470T>C (p.Val157Ala) single nucleotide variant not provided [RCV002636661] Chr8:58497042 [GRCh38]
Chr8:59409601 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.114A>G (p.Leu38=) single nucleotide variant not provided [RCV002622751] Chr8:58498436 [GRCh38]
Chr8:59410995 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.310A>G (p.Thr104Ala) single nucleotide variant CYP7A1-related disorder [RCV004753592]|not provided [RCV002933257] Chr8:58498240 [GRCh38]
Chr8:59410799 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.178C>A (p.Gln60Lys) single nucleotide variant not specified [RCV004168607] Chr8:58498372 [GRCh38]
Chr8:59410931 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.943G>A (p.Val315Met) single nucleotide variant not specified [RCV004168095] Chr8:58494602 [GRCh38]
Chr8:59407161 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.857C>T (p.Ser286Leu) single nucleotide variant not provided [RCV002957626] Chr8:58496655 [GRCh38]
Chr8:59409214 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1448G>A (p.Arg483Gln) single nucleotide variant not provided [RCV002958143] Chr8:58491542 [GRCh38]
Chr8:59404101 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.880A>G (p.Thr294Ala) single nucleotide variant not specified [RCV004124755] Chr8:58496632 [GRCh38]
Chr8:59409191 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.918_919inv (p.Glu306_Ala307delinsAspSer) inversion not provided [RCV002578577] Chr8:58494626..58494627 [GRCh38]
Chr8:59407185..59407186 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.368A>T (p.Glu123Val) single nucleotide variant not provided [RCV003030170] Chr8:58497144 [GRCh38]
Chr8:59409703 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1293G>T (p.Lys431Asn) single nucleotide variant not specified [RCV004203275] Chr8:58491697 [GRCh38]
Chr8:59404256 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.240A>G (p.Thr80=) single nucleotide variant not provided [RCV002630169] Chr8:58498310 [GRCh38]
Chr8:59410869 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.1249G>A (p.Gly417Arg) single nucleotide variant not provided [RCV002938457] Chr8:58491741 [GRCh38]
Chr8:59404300 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.791A>G (p.Asn264Ser) single nucleotide variant not provided [RCV002631098]|not specified [RCV004065881] Chr8:58496721 [GRCh38]
Chr8:59409280 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.559A>G (p.Ile187Val) single nucleotide variant not specified [RCV004092432] Chr8:58496953 [GRCh38]
Chr8:59409512 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1081C>G (p.Leu361Val) single nucleotide variant not provided [RCV002630883] Chr8:58492487 [GRCh38]
Chr8:59405046 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.322-20C>T single nucleotide variant not provided [RCV002676885] Chr8:58497210 [GRCh38]
Chr8:59409769 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.692C>T (p.Ala231Val) single nucleotide variant not provided [RCV002582368] Chr8:58496820 [GRCh38]
Chr8:59409379 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.321+7A>T single nucleotide variant not provided [RCV002586494] Chr8:58498222 [GRCh38]
Chr8:59410781 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.703C>G (p.Arg235Gly) single nucleotide variant not specified [RCV004273361] Chr8:58496809 [GRCh38]
Chr8:59409368 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.224A>G (p.Tyr75Cys) single nucleotide variant not provided [RCV003322037] Chr8:58498326 [GRCh38]
Chr8:59410885 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.434T>G (p.Met145Arg) single nucleotide variant not specified [RCV004361540] Chr8:58497078 [GRCh38]
Chr8:59409637 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.908+5C>T single nucleotide variant not provided [RCV003543191] Chr8:58496599 [GRCh38]
Chr8:59409158 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.382del (p.Thr128fs) deletion not provided [RCV003571347] Chr8:58497130 [GRCh38]
Chr8:59409689 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.749G>T (p.Arg250Met) single nucleotide variant CYP7A1-related disorder [RCV003402983]|not provided [RCV003481507] Chr8:58496763 [GRCh38]
Chr8:59409322 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.642A>C (p.Lys214Asn) single nucleotide variant CYP7A1-related disorder [RCV003412223] Chr8:58496870 [GRCh38]
Chr8:59409429 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1090C>T (p.Arg364Trp) single nucleotide variant CYP7A1-related disorder [RCV003410643] Chr8:58492478 [GRCh38]
Chr8:59405037 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1039+2T>A single nucleotide variant not provided [RCV003577976] Chr8:58494504 [GRCh38]
Chr8:59407063 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1229A>G (p.Asp410Gly) single nucleotide variant not provided [RCV003663093] Chr8:58491761 [GRCh38]
Chr8:59404320 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.956T>C (p.Leu319Ser) single nucleotide variant not provided [RCV003879106] Chr8:58494589 [GRCh38]
Chr8:59407148 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.321+13A>G single nucleotide variant not provided [RCV003694366] Chr8:58498216 [GRCh38]
Chr8:59410775 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.837C>A (p.His279Gln) single nucleotide variant not provided [RCV003577998] Chr8:58496675 [GRCh38]
Chr8:59409234 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.819G>A (p.Leu273=) single nucleotide variant not provided [RCV003574342] Chr8:58496693 [GRCh38]
Chr8:59409252 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.533T>C (p.Val178Ala) single nucleotide variant not provided [RCV003694222] Chr8:58496979 [GRCh38]
Chr8:59409538 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1233G>A (p.Arg411=) single nucleotide variant not provided [RCV003876304] Chr8:58491757 [GRCh38]
Chr8:59404316 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.1066C>T (p.Leu356Phe) single nucleotide variant not provided [RCV003663434] Chr8:58492502 [GRCh38]
Chr8:59405061 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1374G>T (p.Leu458Phe) single nucleotide variant not provided [RCV003828375] Chr8:58491616 [GRCh38]
Chr8:59404175 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.815A>C (p.Asp272Ala) single nucleotide variant not provided [RCV003836696] Chr8:58496697 [GRCh38]
Chr8:59409256 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.778C>A (p.Arg260Ser) single nucleotide variant not provided [RCV003836697] Chr8:58496734 [GRCh38]
Chr8:59409293 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.850T>A (p.Trp284Arg) single nucleotide variant not provided [RCV003702628] Chr8:58496662 [GRCh38]
Chr8:59409221 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.81-18T>C single nucleotide variant not provided [RCV003839909] Chr8:58498487 [GRCh38]
Chr8:59411046 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.426G>A (p.Thr142=) single nucleotide variant not provided [RCV003838452] Chr8:58497086 [GRCh38]
Chr8:59409645 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.940_946del (p.Glu314fs) deletion not provided [RCV003559409] Chr8:58494599..58494605 [GRCh38]
Chr8:59407158..59407164 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.532G>A (p.Val178Met) single nucleotide variant not provided [RCV003675751] Chr8:58496980 [GRCh38]
Chr8:59409539 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.128G>T (p.Gly43Val) single nucleotide variant not provided [RCV003865927] Chr8:58498422 [GRCh38]
Chr8:59410981 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.957del (p.Glu320fs) deletion not provided [RCV003678270] Chr8:58494588 [GRCh38]
Chr8:59407147 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_000780.4(CYP7A1):c.285T>A (p.Phe95Leu) single nucleotide variant not provided [RCV003721371] Chr8:58498265 [GRCh38]
Chr8:59410824 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1224A>G (p.Lys408=) single nucleotide variant not provided [RCV003841313] Chr8:58491766 [GRCh38]
Chr8:59404325 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.1348G>A (p.Ala450Thr) single nucleotide variant not provided [RCV003844444] Chr8:58491642 [GRCh38]
Chr8:59404201 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.629A>G (p.Lys210Arg) single nucleotide variant not provided [RCV003721500] Chr8:58496883 [GRCh38]
Chr8:59409442 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.255_257del (p.His86del) deletion not provided [RCV003552084] Chr8:58498293..58498295 [GRCh38]
Chr8:59410852..59410854 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.915A>G (p.Pro305=) single nucleotide variant not provided [RCV003731950] Chr8:58494630 [GRCh38]
Chr8:59407189 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.1410A>T (p.Ile470=) single nucleotide variant not provided [RCV003556925] Chr8:58491580 [GRCh38]
Chr8:59404139 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.1461C>T (p.Gly487=) single nucleotide variant not provided [RCV003682160] Chr8:58491529 [GRCh38]
Chr8:59404088 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.1100A>T (p.Lys367Met) single nucleotide variant not provided [RCV003861982] Chr8:58492468 [GRCh38]
Chr8:59405027 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.888G>C (p.Trp296Cys) single nucleotide variant not provided [RCV003733762] Chr8:58496624 [GRCh38]
Chr8:59409183 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.615T>C (p.Asn205=) single nucleotide variant not provided [RCV003728423] Chr8:58496897 [GRCh38]
Chr8:59409456 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.678C>T (p.His226=) single nucleotide variant not provided [RCV003678780] Chr8:58496834 [GRCh38]
Chr8:59409393 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.1172C>T (p.Pro391Leu) single nucleotide variant not specified [RCV004370607] Chr8:58492396 [GRCh38]
Chr8:59404955 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1204C>A (p.Pro402Thr) single nucleotide variant not specified [RCV004370608] Chr8:58492364 [GRCh38]
Chr8:59404923 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.572A>G (p.Asp191Gly) single nucleotide variant not specified [RCV004370612] Chr8:58496940 [GRCh38]
Chr8:59409499 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.197T>G (p.Val66Gly) single nucleotide variant not specified [RCV004370611] Chr8:58498353 [GRCh38]
Chr8:59410912 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1469C>G (p.Pro490Arg) single nucleotide variant not specified [RCV004370610] Chr8:58491521 [GRCh38]
Chr8:59404080 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.474C>T (p.Ser158=) single nucleotide variant CYP7A1-related disorder [RCV003912090] Chr8:58497038 [GRCh38]
Chr8:59409597 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.489C>T (p.Thr163=) single nucleotide variant CYP7A1-related disorder [RCV003896659] Chr8:58497023 [GRCh38]
Chr8:59409582 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.822G>A (p.Glu274=) single nucleotide variant CYP7A1-related disorder [RCV003963954] Chr8:58496690 [GRCh38]
Chr8:59409249 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.1164T>C (p.Ala388=) single nucleotide variant CYP7A1-related disorder [RCV003901598] Chr8:58492404 [GRCh38]
Chr8:59404963 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.849C>T (p.Leu283=) single nucleotide variant CYP7A1-related disorder [RCV003964665] Chr8:58496663 [GRCh38]
Chr8:59409222 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.379G>A (p.Asp127Asn) single nucleotide variant CYP7A1-related disorder [RCV003899067] Chr8:58497133 [GRCh38]
Chr8:59409692 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.627C>T (p.Phe209=) single nucleotide variant CYP7A1-related disorder [RCV003899272] Chr8:58496885 [GRCh38]
Chr8:59409444 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.347C>T (p.Pro116Leu) single nucleotide variant CYP7A1-related disorder [RCV003893746] Chr8:58497165 [GRCh38]
Chr8:59409724 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.24G>T (p.Trp8Cys) single nucleotide variant CYP7A1-related disorder [RCV003982708] Chr8:58500075 [GRCh38]
Chr8:59412634 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.481T>G (p.Ser161Ala) single nucleotide variant CYP7A1-related disorder [RCV003894481] Chr8:58497031 [GRCh38]
Chr8:59409590 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.602A>T (p.His201Leu) single nucleotide variant not specified [RCV004370613] Chr8:58496910 [GRCh38]
Chr8:59409469 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.800T>C (p.Leu267Ser) single nucleotide variant not specified [RCV004370614] Chr8:58496712 [GRCh38]
Chr8:59409271 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.845T>C (p.Val282Ala) single nucleotide variant not specified [RCV004370615] Chr8:58496667 [GRCh38]
Chr8:59409226 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.402G>A (p.Gln134=) single nucleotide variant CYP7A1-related disorder [RCV003968980] Chr8:58497110 [GRCh38]
Chr8:59409669 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.338G>C (p.Ser113Thr) single nucleotide variant CYP7A1-related disorder [RCV004752579] Chr8:58497174 [GRCh38]
Chr8:59409733 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.321+2T>C single nucleotide variant CYP7A1-related disorder [RCV004754135] Chr8:58498227 [GRCh38]
Chr8:59410786 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.820G>A (p.Glu274Lys) single nucleotide variant CYP7A1-related disorder [RCV004731453] Chr8:58496692 [GRCh38]
Chr8:59409251 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1176G>A (p.Gln392=) single nucleotide variant CYP7A1-related disorder [RCV004731866] Chr8:58492392 [GRCh38]
Chr8:59404951 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.517T>G (p.Ser173Ala) single nucleotide variant CYP7A1-related disorder [RCV004753997] Chr8:58496995 [GRCh38]
Chr8:59409554 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.1334C>T (p.Pro445Leu) single nucleotide variant CYP7A1-related disorder [RCV004754130] Chr8:58491656 [GRCh38]
Chr8:59404215 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_000780.4(CYP7A1):c.*9C>G single nucleotide variant CYP7A1-related disorder [RCV004753969] Chr8:58491466 [GRCh38]
Chr8:59404025 [GRCh37]
Chr8:8q12.1		 likely benign
NM_000780.4(CYP7A1):c.404G>A (p.Gly135Asp) single nucleotide variant CYP7A1-related disorder [RCV004754087] Chr8:58497108 [GRCh38]
Chr8:59409667 [GRCh37]
Chr8:8q12.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR422Ahsa-miR-422aMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assayFunctional MTI20351063
MIR122hsa-miR-122-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assayFunctional MTI20351063

Predicted Target Of
Summary Value
Count of predictions:435
Count of miRNA genes:356
Interacting mature miRNAs:380
Transcripts:ENST00000301645
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406923297GWAS572273_Htriglyceride measurement QTL GWAS572273 (human)8e-09triglyceride measurementblood triglyceride level (CMO:0000118)85849393158493932Human
407248901GWAS897877_Hcholelithiasis QTL GWAS897877 (human)9e-14cholelithiasis85849393158493932Human
406931044GWAS580020_Htotal cholesterol measurement QTL GWAS580020 (human)2e-15total cholesterol measurementblood total cholesterol level (CMO:0000051)85849393158493932Human
406895496GWAS544472_Hglycolithocholate measurement QTL GWAS544472 (human)0.000002glycolithocholate measurement85849848358498484Human
406902025GWAS551001_Hlow density lipoprotein cholesterol measurement QTL GWAS551001 (human)4e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849393158493932Human
407150927GWAS799903_Htotal cholesterol measurement QTL GWAS799903 (human)5e-41total cholesterol measurementblood total cholesterol level (CMO:0000051)85849393158493932Human
407318444GWAS967420_Hlow density lipoprotein cholesterol measurement QTL GWAS967420 (human)3e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849393158493932Human
407184552GWAS833528_HHMG CoA reductase inhibitor use measurement QTL GWAS833528 (human)1e-09HMG CoA reductase inhibitor use measurement85849393158493932Human
406915151GWAS564127_Hlow density lipoprotein cholesterol measurement QTL GWAS564127 (human)3e-15low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849393158493932Human
407346807GWAS995783_Htotal cholesterol measurement QTL GWAS995783 (human)8e-25total cholesterol measurementblood total cholesterol level (CMO:0000051)85849393158493932Human
407156343GWAS805319_Hlow density lipoprotein cholesterol measurement QTL GWAS805319 (human)4e-25low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849393158493932Human
407318803GWAS967779_Hnon-high density lipoprotein cholesterol measurement QTL GWAS967779 (human)2e-17non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)85849393158493932Human
407338451GWAS987427_Hhemoglobin A1 measurement QTL GWAS987427 (human)2e-08hemoglobin A1 measurement85849524958495250Human
407321330GWAS970306_Hlow density lipoprotein cholesterol measurement QTL GWAS970306 (human)2e-13low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849393158493932Human
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human
407324881GWAS973857_Hlow density lipoprotein cholesterol measurement QTL GWAS973857 (human)2e-13low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849398658493987Human
406921371GWAS570347_Htotal cholesterol measurement QTL GWAS570347 (human)1e-20total cholesterol measurementblood total cholesterol level (CMO:0000051)85849393158493932Human
407330141GWAS979117_Htotal cholesterol measurement QTL GWAS979117 (human)1e-16total cholesterol measurementblood total cholesterol level (CMO:0000051)85849393158493932Human
407213688GWAS862664_Hlow density lipoprotein cholesterol measurement QTL GWAS862664 (human)8e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)85849393158493932Human
2289597BW470_HBody weight QTL 470 (human)1.3Body weightBMI83977088765770887Human

Markers in Region
RH17754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37859,402,957 - 59,403,077UniSTSGRCh37
Build 36859,565,511 - 59,565,631RGDNCBI36
Celera855,395,971 - 55,396,091RGD
Cytogenetic Map8q11-q12UniSTS
HuRef854,890,182 - 54,890,302UniSTS
GeneMap99-GB4 RH Map8320.09UniSTS
SHGC-35322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37859,403,746 - 59,403,963UniSTSGRCh37
Build 36859,566,300 - 59,566,517RGDNCBI36
Celera855,396,760 - 55,396,977RGD
Cytogenetic Map8q11-q12UniSTS
HuRef854,890,971 - 54,891,188UniSTS
Stanford-G3 RH Map82398.0UniSTS
GeneMap99-GB4 RH Map8320.29UniSTS
Whitehead-RH Map8410.3UniSTS
NCBI RH Map8794.2UniSTS
GeneMap99-G3 RH Map82488.0UniSTS
PMC137182P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37859,410,525 - 59,410,682UniSTSGRCh37
Build 36859,573,079 - 59,573,236RGDNCBI36
Celera855,403,539 - 55,403,696RGD
Cytogenetic Map8q11-q12UniSTS
HuRef854,897,690 - 54,897,847UniSTS
PMC357015P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37859,403,051 - 59,403,433UniSTSGRCh37
Build 36859,565,605 - 59,565,987RGDNCBI36
Celera855,396,065 - 55,396,447RGD
Cytogenetic Map8q11-q12UniSTS
HuRef854,890,276 - 54,890,658UniSTS
CYP7A1_433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37859,402,685 - 59,403,515UniSTSGRCh37
Build 36859,565,239 - 59,566,069RGDNCBI36
Celera855,395,699 - 55,396,529RGD
HuRef854,889,910 - 54,890,740UniSTS
GDB:213610  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q11-q12UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1189 1970 2434 1854 3584 1395 1805 1 552 905 409 1956 4970 4849 13 2701 525 1350 1179 144

Sequence


Ensembl Acc Id: ENST00000301645   ⟹   ENSP00000301645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl858,490,178 - 58,500,163 (-)Ensembl
RefSeq Acc Id: NM_000780   ⟹   NP_000771
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38858,490,178 - 58,500,163 (-)NCBI
GRCh37859,402,737 - 59,412,720 (-)ENTREZGENE
Build 36859,565,292 - 59,575,275 (-)NCBI Archive
HuRef854,889,962 - 54,899,885 (-)ENTREZGENE
CHM1_1859,454,626 - 59,464,609 (-)NCBI
T2T-CHM13v2.0858,911,316 - 58,921,301 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000771   ⟸   NM_000780
- UniProtKB: Q3MIL8 (UniProtKB/Swiss-Prot),   P78454 (UniProtKB/Swiss-Prot),   Q7KZ19 (UniProtKB/Swiss-Prot),   P22680 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000301645   ⟸   ENST00000301645

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22680-F1-model_v2 AlphaFold P22680 1-504 view protein structure

Promoters
RGD ID:7213357
Promoter ID:EPDNEW_H12424
Type:multiple initiation site
Name:CYP7A1_1
Description:cytochrome P450 family 7 subfamily A member 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
GRCh38858,500,163 - 58,500,223EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2651 AgrOrtholog
COSMIC CYP7A1 COSMIC
Ensembl Genes ENSG00000167910 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000301645 ENTREZGENE
  ENST00000301645.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot
GTEx ENSG00000167910 GTEx
HGNC ID HGNC:2651 ENTREZGENE
Human Proteome Map CYP7A1 Human Proteome Map
InterPro Cholesterol_7a_monooxygenase UniProtKB/Swiss-Prot
  CYP450_sterol_14alpha_dmase UniProtKB/Swiss-Prot
  Cyt_P450 UniProtKB/Swiss-Prot
  Cyt_P450_CS UniProtKB/Swiss-Prot
  Cyt_P450_CYP7A1-type UniProtKB/Swiss-Prot
  Cyt_P450_E_grp-IV UniProtKB/Swiss-Prot
  Cyt_P450_sf UniProtKB/Swiss-Prot
KEGG Report hsa:1581 UniProtKB/Swiss-Prot
NCBI Gene 1581 ENTREZGENE
OMIM 118455 OMIM
PANTHER CYTOCHROME P450 FAMILY 7 UniProtKB/Swiss-Prot
  PTHR24304:SF1 UniProtKB/Swiss-Prot
Pfam p450 UniProtKB/Swiss-Prot
PharmGKB CYP7A1 RGD, PharmGKB
PIRSF Cytochrome_CYP7A1 UniProtKB/Swiss-Prot
  Cytochrome_CYPVIIA1 UniProtKB/Swiss-Prot
PRINTS EP450IV UniProtKB/Swiss-Prot
PROSITE CYTOCHROME_P450 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot
UniProt CP7A1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P78454 ENTREZGENE
  Q3MIL8 ENTREZGENE
  Q7KZ19 ENTREZGENE
UniProt Secondary P78454 UniProtKB/Swiss-Prot
  Q3MIL8 UniProtKB/Swiss-Prot
  Q7KZ19 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 CYP7A1  cytochrome P450 family 7 subfamily A member 1    cytochrome P450, family 7, subfamily A, polypeptide 1  Symbol and/or name change 5135510 APPROVED