TRPV1 (transient receptor potential cation channel subfamily V member 1) - Rat Genome Database

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Gene: TRPV1 (transient receptor potential cation channel subfamily V member 1) Homo sapiens
Analyze
Symbol: TRPV1
Name: transient receptor potential cation channel subfamily V member 1
RGD ID: 733197
HGNC Page HGNC:12716
Description: Enables extracellular ligand-gated monoatomic ion channel activity and phosphoprotein binding activity. Involved in several processes, including calcium ion import across plasma membrane; cellular response to acidic pH; and response to capsazepine. Acts upstream of or within thermoception. Located in membrane. Implicated in migraine.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: capsaicin receptor; DKFZp434K0220; osm-9-like TRP channel 1; OTRPC1; transient receptor potential cation channel, subfamily V, member 1; transient receptor potential vanilloid 1a; transient receptor potential vanilloid 1b; vanilloid receptor 1; vanilloid receptor subtype 1; VR1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,565,446 - 3,609,411 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,565,444 - 3,609,411 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,468,740 - 3,512,705 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,415,490 - 3,459,454 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,415,490 - 3,442,920NCBI
Celera173,482,474 - 3,526,423 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,360,449 - 3,404,458 (-)NCBIHuRef
CHM1_1173,479,568 - 3,523,488 (-)NCBICHM1_1
T2T-CHM13v2.0173,454,482 - 3,498,442 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(R)-camphor  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1,2-naphthoquinone  (ISO)
17beta-estradiol  (ISO)
1H-benzimidazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-bis(4-hydroxyphenyl)propionitrile  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-arachidonoylglycerol  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-phenylprop-2-enal  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-methyl-3-[[1-oxo-2-(propylamino)propyl]amino]-2-thiophenecarboxylic acid methyl ester  (ISO)
6-propyl-2-thiouracil  (ISO)
8-(4-chlorophenylthio)-cAMP  (EXP,ISO)
acrolein  (ISO)
acrylamide  (ISO)
adenosine 5'-[gamma-thio]triphosphate  (ISO)
aflatoxin B1  (EXP)
allicin  (EXP)
allyl isothiocyanate  (EXP,ISO)
alpha-linolenic acid  (ISO)
alpha-Zearalanol  (ISO)
amitriptyline  (ISO)
anandamide  (EXP,ISO)
antimycin A  (EXP)
arachidonic acid  (ISO)
aristolochic acid A  (EXP)
aspartame  (EXP)
ATP  (ISO)
azoxystrobin  (EXP)
Benzamil  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bupivacaine  (ISO)
cadmium atom  (ISO)
calcium atom  (EXP,ISO)
calcium dichloride  (ISO)
calcium dihydroxide  (EXP)
calcium(0)  (EXP,ISO)
camphor  (ISO)
Cannabichromene  (EXP,ISO)
cannabidiol  (EXP,ISO)
cannabidiolic acid  (EXP)
Cannabidivarin  (EXP,ISO)
cannabigerol  (EXP)
cannabigerolic acid  (EXP)
capsaicin  (EXP,ISO)
capsazepine  (EXP,ISO)
carbon dioxide  (ISO)
chelerythrine  (ISO)
citric acid  (EXP)
citronellol  (EXP)
citronellol acetate  (ISO)
cobalt atom  (ISO)
colforsin daropate hydrochloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP,ISO)
CP-96345(1+)  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dodecyl hydrogen sulfate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (EXP)
ethylenediaminetetraacetic acid  (EXP)
etoposide  (EXP)
fenpyroximate  (EXP)
fenvalerate  (ISO)
formaldehyde  (ISO)
fulvestrant  (ISO)
gamma-linolenic acid  (ISO)
geldanamycin  (ISO)
genistein  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
Goe 6976  (ISO)
hydrogen chloride  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP,ISO)
ionomycin  (EXP,ISO)
iron(2+) sulfate (anhydrous)  (EXP)
isophorone  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
Lafutidine  (ISO)
leflunomide  (EXP)
lidocaine  (EXP,ISO)
linoleic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
LY294002  (ISO)
masoprocol  (ISO)
Mecamylamine  (ISO)
melatonin  (ISO)
melittin  (ISO)
mepivacaine  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP)
methyllycaconitine  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
morphine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-oleoyldopamine  (EXP,ISO)
N-Vanillyloleamide  (ISO)
nickel atom  (ISO)
nicotine  (ISO)
nitroprusside  (EXP)
nonivamide  (EXP)
Nordihydrocapsaicin  (EXP,ISO)
NS-398  (ISO)
olanzapine  (ISO)
oleanolic acid  (ISO)
ozone  (ISO)
p-menthan-3-ol  (EXP)
palmitoyl ethanolamide  (EXP)
phenylarsine oxide  (ISO)
phenylephrine  (ISO)
phenylmethanesulfonyl fluoride  (EXP)
phorbol 12,13-dibutanoate  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pinostrobin  (EXP)
potassium chromate  (EXP)
procaine  (ISO)
pyrimidifen  (EXP)
quercetin  (EXP)
reactive oxygen species  (ISO)
resiniferatoxin  (EXP,ISO)
ricinoleic acid  (EXP)
rimonabant  (EXP)
rotenone  (EXP)
rottlerin  (ISO)
ruthenium red  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
saccharin  (EXP,ISO)
SB 203580  (ISO)
SB 431542  (EXP)
serotonin  (ISO)
sodium arsenite  (EXP,ISO)
sodium atom  (EXP,ISO)
sodium chloride  (ISO)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
tebufenpyrad  (EXP)
tetracaine  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topiramate  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
Triton X-100  (ISO)
tyrphostin AG 1478  (ISO)
U-73122  (ISO)
valproic acid  (EXP)
WIN 55212-2  (ISO)
wortmannin  (ISO)
xenon atom  (EXP)
xenon(0)  (EXP)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
behavioral response to pain  (IEA,ISO)
calcium ion import across plasma membrane  (IDA,IEA)
calcium ion transmembrane transport  (IEA,ISS,TAS)
calcium ion transport  (IEA,ISO)
calcium-mediated signaling  (IEA)
cell surface receptor signaling pathway  (TAS)
cellular response to acidic pH  (IDA,IEA)
cellular response to alkaloid  (IEA,ISS)
cellular response to ATP  (IEA,ISS)
cellular response to cytokine stimulus  (IEA)
cellular response to growth factor stimulus  (IEA,ISO)
cellular response to heat  (IDA,IEA)
cellular response to nerve growth factor stimulus  (IEA,ISO)
cellular response to temperature stimulus  (IEA,ISO)
cellular response to tumor necrosis factor  (IEA,ISO)
chemosensory behavior  (TAS)
detection of chemical stimulus involved in sensory perception of pain  (IEA,ISO)
detection of temperature stimulus involved in sensory perception of pain  (IEA)
detection of temperature stimulus involved in thermoception  (IEA,ISO)
diet induced thermogenesis  (IEA,ISO)
excitatory postsynaptic potential  (IEA)
fever generation  (IEA,ISO)
glutamate secretion  (IEA,ISO)
lipid metabolic process  (IEA,ISO)
microglial cell activation  (IEA,ISO)
monoatomic ion transmembrane transport  (IEA)
monoatomic ion transport  (IEA)
negative regulation of establishment of blood-brain barrier  (IEA,ISO)
negative regulation of heart rate  (IEA,ISO)
negative regulation of mitochondrial membrane potential  (IEA,ISO)
negative regulation of systemic arterial blood pressure  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA)
peptide secretion  (IEA,ISO)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO)
positive regulation of nitric oxide biosynthetic process  (IEA,ISO)
protein homotetramerization  (IEA,ISS)
response to capsazepine  (IEA,IMP,ISS)
response to heat  (IEA,ISO)
response to organonitrogen compound  (ISO)
response to pain  (IEA,ISO)
response to peptide hormone  (IEA,ISO)
response to pH  (IEA,ISO)
sensory perception of mechanical stimulus  (IEA,ISO)
sensory perception of pain  (IEA,ISO)
smooth muscle contraction involved in micturition  (IEA,ISO)
temperature homeostasis  (IEA,ISO)
thermoception  (IDA)
transmembrane transport  (IEA)
urinary bladder smooth muscle contraction  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Headache  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population. Carreno O, etal., Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):94-103. doi: 10.1002/ajmg.b.32007. Epub 2011 Dec 7.
2. The capsaicin receptor: a heat-activated ion channel in the pain pathway. Caterina MJ, etal., Nature 1997 Oct 23;389(6653):816-24.
3. Inhibition of transient potential receptor vanilloid type 1 suppresses seizure susceptibility in the genetically epilepsy-prone rat. Cho SJ, etal., CNS Neurosci Ther. 2017 Nov 3. doi: 10.1111/cns.12770.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Transient Receptor Potential Vanilloid 1 Regulates Mitochondrial Membrane Potential and Myocardial Reperfusion Injury. Hurt CM, etal., J Am Heart Assoc. 2016 Sep 26;5(9). pii: JAHA.116.003774. doi: 10.1161/JAHA.116.003774.
6. Up-regulation of dorsal root ganglia BDNF and trkB receptor in inflammatory pain: an in vivo and in vitro study. Lin YT, etal., J Neuroinflammation. 2011 Sep 30;8:126. doi: 10.1186/1742-2094-8-126.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10201375   PMID:10725386   PMID:11050376   PMID:11076863   PMID:11124944   PMID:11226139   PMID:11230166   PMID:11243859   PMID:11358970   PMID:11549313   PMID:11884385   PMID:12077606  
PMID:12194871   PMID:12393854   PMID:12454015   PMID:12477932   PMID:12490594   PMID:12573376   PMID:12721390   PMID:12765698   PMID:12808128   PMID:12812762   PMID:14506258   PMID:14520770  
PMID:14523239   PMID:14554100   PMID:14630912   PMID:14987252   PMID:14996838   PMID:15051629   PMID:15066994   PMID:15190102   PMID:15306801   PMID:15489336   PMID:15574747   PMID:15644492  
PMID:15685214   PMID:15691846   PMID:15708075   PMID:15738111   PMID:15793280   PMID:15992990   PMID:16081411   PMID:16099171   PMID:16115206   PMID:16301147   PMID:16319926   PMID:16381901  
PMID:16382100   PMID:16406364   PMID:16777226   PMID:16793902   PMID:16842630   PMID:16996476   PMID:16996800   PMID:17016800   PMID:17018028   PMID:17074976   PMID:17109831   PMID:17110928  
PMID:17176640   PMID:17184838   PMID:17217056   PMID:17347480   PMID:17385724   PMID:17392452   PMID:17428642   PMID:17442041   PMID:17442052   PMID:17508023   PMID:17508360   PMID:17521436  
PMID:17560936   PMID:17567713   PMID:17582772   PMID:17596456   PMID:17626206   PMID:17659837   PMID:17913835   PMID:17927589   PMID:17932042   PMID:18076848   PMID:18222434   PMID:18230619  
PMID:18267041   PMID:18414789   PMID:18482991   PMID:18499726   PMID:18503554   PMID:18552442   PMID:18559878   PMID:18574245   PMID:18584893   PMID:18701070   PMID:18769453   PMID:18786439  
PMID:18787888   PMID:18791833   PMID:18830626   PMID:18852901   PMID:18983665   PMID:19036069   PMID:19056576   PMID:19074743   PMID:19155296   PMID:19161409   PMID:19328632   PMID:19333172  
PMID:19397909   PMID:19482060   PMID:19598235   PMID:19608651   PMID:19619644   PMID:19651168   PMID:19656659   PMID:19749171   PMID:19770677   PMID:19778904   PMID:19801576   PMID:19877503  
PMID:19913121   PMID:19923855   PMID:19959817   PMID:20034385   PMID:20060270   PMID:20096818   PMID:20145248   PMID:20190512   PMID:20351268   PMID:20379614   PMID:20456759   PMID:20515731  
PMID:20518854   PMID:20628086   PMID:20639579   PMID:20691059   PMID:20696376   PMID:20807792   PMID:21037510   PMID:21044960   PMID:21076423   PMID:21076424   PMID:21083604   PMID:21160085  
PMID:21168271   PMID:21285946   PMID:21310942   PMID:21345654   PMID:21351130   PMID:21451044   PMID:21493704   PMID:21506114   PMID:21546516   PMID:21555515   PMID:21616913   PMID:21654202  
PMID:21873635   PMID:21911503   PMID:21926175   PMID:21945155   PMID:21951314   PMID:21956871   PMID:21960521   PMID:21962912   PMID:21981454   PMID:22089942   PMID:22171160   PMID:22242698  
PMID:22260796   PMID:22262838   PMID:22262885   PMID:22327830   PMID:22389490   PMID:22401740   PMID:22443337   PMID:22493457   PMID:22518827   PMID:22556011   PMID:22566504   PMID:22568077  
PMID:22570472   PMID:22647236   PMID:22691178   PMID:22792722   PMID:22809607   PMID:22814029   PMID:22820645   PMID:22829138   PMID:22870787   PMID:22883519   PMID:22935106   PMID:22936245  
PMID:22942745   PMID:23047628   PMID:23074220   PMID:23123284   PMID:23139219   PMID:23183769   PMID:23264624   PMID:23279936   PMID:23398938   PMID:23453732   PMID:23458684   PMID:23508958  
PMID:23510405   PMID:23616546   PMID:23689362   PMID:23699529   PMID:23709255   PMID:23820422   PMID:23902373   PMID:24002057   PMID:24073800   PMID:24084605   PMID:24098582   PMID:24139494  
PMID:24152419   PMID:24189713   PMID:24190005   PMID:24275229   PMID:24296694   PMID:24312564   PMID:24340836   PMID:24458144   PMID:24564660   PMID:24564662   PMID:24569998   PMID:24599956  
PMID:24658385   PMID:24720453   PMID:24764033   PMID:24798548   PMID:24868547   PMID:24871046   PMID:24889371   PMID:24931369   PMID:25170901   PMID:25210497   PMID:25216685   PMID:25257701  
PMID:25266715   PMID:25288608   PMID:25301060   PMID:25319702   PMID:25333484   PMID:25336328   PMID:25425643   PMID:25445434   PMID:25449039   PMID:25481381   PMID:25505315   PMID:25561742  
PMID:25585038   PMID:25641129   PMID:25642661   PMID:25666878   PMID:25670203   PMID:25715236   PMID:25781982   PMID:25814480   PMID:25860199   PMID:25911511   PMID:26054320   PMID:26146187  
PMID:26283426   PMID:26294672   PMID:26337663   PMID:26343051   PMID:26387947   PMID:26390894   PMID:26420335   PMID:26436415   PMID:26490328   PMID:26517313   PMID:26530852   PMID:26645885  
PMID:26695734   PMID:26700618   PMID:26702055   PMID:26752109   PMID:26753651   PMID:26755770   PMID:26760575   PMID:26796050   PMID:26882503   PMID:26947234   PMID:27016779   PMID:27038373  
PMID:27094759   PMID:27150432   PMID:27163769   PMID:27180305   PMID:27240888   PMID:27250983   PMID:27287034   PMID:27291418   PMID:27312995   PMID:27314441   PMID:27322240   PMID:27333657  
PMID:27339229   PMID:27436359   PMID:27438088   PMID:27456865   PMID:27512850   PMID:27606946   PMID:27612191   PMID:27623929   PMID:27627464   PMID:27663071   PMID:27699868   PMID:27734949  
PMID:27758864   PMID:27762319   PMID:27829230   PMID:27992447   PMID:28026039   PMID:28044278   PMID:28063984   PMID:28187208   PMID:28284340   PMID:28287157   PMID:28336810   PMID:28364279  
PMID:28466657   PMID:28481838   PMID:28522561   PMID:28637794   PMID:28681979   PMID:28782273   PMID:28795251   PMID:28849985   PMID:28905239   PMID:29080357   PMID:29129206   PMID:29149168  
PMID:29203659   PMID:29378958   PMID:29458120   PMID:29562624   PMID:29578437   PMID:29656858   PMID:29930394   PMID:30159798   PMID:30205521   PMID:30206938   PMID:30209980   PMID:30244119  
PMID:30418350   PMID:30717434   PMID:30753937   PMID:30761248   PMID:30854480   PMID:30883022   PMID:30914247   PMID:30958302   PMID:30974795   PMID:31014225   PMID:31018904   PMID:31073986  
PMID:31096838   PMID:31148262   PMID:31183372   PMID:31189399   PMID:31220549   PMID:31325598   PMID:31401394   PMID:31446830   PMID:31547874   PMID:31661547   PMID:31846438   PMID:31907951  
PMID:31935455   PMID:31952468   PMID:32147196   PMID:32236974   PMID:32287115   PMID:32345672   PMID:32408609   PMID:32460554   PMID:32461255   PMID:32471784   PMID:32544616   PMID:32696508  
PMID:32764237   PMID:32820172   PMID:32827294   PMID:32892378   PMID:33007786   PMID:33008449   PMID:33062722   PMID:33103544   PMID:33255148   PMID:33487631   PMID:33525904   PMID:33567446  
PMID:33624687   PMID:33655767   PMID:33664402   PMID:33801115   PMID:33803867   PMID:33806052   PMID:33827400   PMID:34126160   PMID:34199609   PMID:34215968   PMID:34239123   PMID:34256685  
PMID:34282193   PMID:34363226   PMID:34445178   PMID:34496225   PMID:34514518   PMID:34557892   PMID:34680034   PMID:34825354   PMID:35007556   PMID:35041191   PMID:35053150   PMID:35121102  
PMID:35163843   PMID:35182895   PMID:35248760   PMID:35385340   PMID:35437956   PMID:35472140   PMID:35477804   PMID:35595954   PMID:35666427   PMID:35862357   PMID:35905222   PMID:35909891  
PMID:35952538   PMID:35968676   PMID:36039965   PMID:36126722   PMID:36137413   PMID:36215168   PMID:36229601   PMID:36441239   PMID:36472910   PMID:36518076   PMID:36555331   PMID:36669703  
PMID:36719371   PMID:36847817   PMID:36856042   PMID:36899055   PMID:36919561   PMID:36924259   PMID:37004343   PMID:37165076   PMID:37208975   PMID:37216549   PMID:37240118   PMID:37350138  
PMID:37371563   PMID:37744324   PMID:37883944   PMID:37994506   PMID:38047304   PMID:38052846   PMID:38234046   PMID:38339203   PMID:38389848   PMID:38440794   PMID:38497183   PMID:38531262  


Genomics

Comparative Map Data
TRPV1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,565,446 - 3,609,411 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,565,444 - 3,609,411 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,468,740 - 3,512,705 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,415,490 - 3,459,454 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,415,490 - 3,442,920NCBI
Celera173,482,474 - 3,526,423 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,360,449 - 3,404,458 (-)NCBIHuRef
CHM1_1173,479,568 - 3,523,488 (-)NCBICHM1_1
T2T-CHM13v2.0173,454,482 - 3,498,442 (-)NCBIT2T-CHM13v2.0
Trpv1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391173,124,975 - 73,152,148 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1173,125,118 - 73,152,068 (+)EnsemblGRCm39 Ensembl
GRCm381173,234,149 - 73,261,322 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1173,234,292 - 73,261,242 (+)EnsemblGRCm38mm10GRCm38
MGSCv371173,051,761 - 73,074,009 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361173,054,454 - 73,076,702 (+)NCBIMGSCv36mm8
Celera1180,775,520 - 80,797,773 (+)NCBICelera
Cytogenetic Map11B4NCBI
cM Map1145.25NCBI
Trpv1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81058,349,936 - 58,375,021 (+)NCBIGRCr8
mRatBN7.21057,851,428 - 57,876,513 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1057,851,428 - 57,876,513 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1062,507,115 - 62,532,567 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01061,995,582 - 62,021,036 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01057,494,713 - 57,520,165 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01059,799,123 - 59,824,208 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1059,799,123 - 59,824,679 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01059,538,296 - 59,563,441 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41060,109,656 - 60,134,939 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11060,123,278 - 60,148,562 (+)NCBI
Celera1056,974,294 - 56,999,462 (+)NCBICelera
Cytogenetic Map10q24NCBI
Trpv1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546713,221,391 - 13,239,089 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546713,221,391 - 13,239,089 (+)NCBIChiLan1.0ChiLan1.0
TRPV1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21911,174,137 - 11,202,410 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11713,139,730 - 13,184,632 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0173,612,781 - 3,658,608 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1173,609,952 - 3,655,011 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl173,609,952 - 3,637,579 (-)Ensemblpanpan1.1panPan2
TRPV1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1947,404,987 - 47,443,871 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl947,404,972 - 47,431,926 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha946,568,483 - 46,594,656 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0948,249,767 - 48,289,671 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl948,249,763 - 48,277,725 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1947,022,952 - 47,055,374 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0947,316,168 - 47,344,663 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0947,371,882 - 47,400,241 (-)NCBIUU_Cfam_GSD_1.0
Trpv1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560255,578,132 - 55,623,675 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936677276,994 - 327,025 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936677277,304 - 326,907 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRPV1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1249,677,291 - 49,713,977 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11249,676,536 - 49,709,634 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21251,536,224 - 51,560,849 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRPV1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1163,071,158 - 3,091,068 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl163,071,526 - 3,090,330 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605918,732,125 - 18,762,847 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trpv1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247866,231,494 - 6,249,001 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247866,231,494 - 6,249,001 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRPV1
65 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2(chr17:3543809-3658724)x3 copy number gain See cases [RCV000050798] Chr17:3543809..3658724 [GRCh38]
Chr17:3447103..3562018 [GRCh37]
Chr17:3393853..3508767 [NCBI36]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.-34+7395T>C single nucleotide variant Nephropathic cystinosis [RCV000169540] Chr17:3601032 [GRCh38]
Chr17:3504326 [GRCh37]
Chr17:17p13.2
benign
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 copy number gain See cases [RCV000052456] Chr17:2357067..4328426 [GRCh38]
Chr17:2260361..4231721 [GRCh37]
Chr17:2207111..4178470 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3 copy number gain See cases [RCV000053972] Chr17:3036729..3684667 [GRCh38]
Chr17:2940023..3587961 [GRCh37]
Chr17:2886773..3534710 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3208843-3839780)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]|See cases [RCV000053973] Chr17:3208843..3839780 [GRCh38]
Chr17:3112137..3743074 [GRCh37]
Chr17:3058887..3689823 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
NC_000017.11:g.3600934_3658165del deletion Juvenile nephropathic cystinosis [RCV000004697]|Nephropathic cystinosis [RCV000004696]|Ocular cystinosis [RCV000004698] Chr17:3600934..3658165 [GRCh38]
Chr17:3504228..3561459 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 copy number loss See cases [RCV000135857] Chr17:226472..3655099 [GRCh38]
Chr17:396627..3558393 [GRCh37]
Chr17:76263..3505142 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3 copy number gain See cases [RCV000137331] Chr17:3102273..3667053 [GRCh38]
Chr17:3005567..3570347 [GRCh37]
Chr17:2952317..3517096 [NCBI36]
Chr17:17p13.3-13.2
likely pathogenic|uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1 copy number loss See cases [RCV000139722] Chr17:3494418..3727880 [GRCh38]
Chr17:3397712..3631174 [GRCh37]
Chr17:3344462..3577923 [NCBI36]
Chr17:17p13.2
uncertain significance|conflicting data from submitters
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3 copy number gain See cases [RCV000139738] Chr17:2062429..4141883 [GRCh38]
Chr17:1965723..4045177 [GRCh37]
Chr17:1912473..3991926 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.2(chr17:3543809-3596080)x3 copy number gain See cases [RCV000141110] Chr17:3543809..3596080 [GRCh38]
Chr17:3447103..3499374 [GRCh37]
Chr17:3393853..3446123 [NCBI36]
Chr17:17p13.2
likely benign
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3 copy number gain See cases [RCV000142062] Chr17:3168370..3862518 [GRCh38]
Chr17:3071664..3765812 [GRCh37]
Chr17:3018414..3712561 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.2(chr17:3543809-3711347)x1 copy number loss See cases [RCV000142613] Chr17:3543809..3711347 [GRCh38]
Chr17:3447103..3614641 [GRCh37]
Chr17:3393853..3561390 [NCBI36]
Chr17:17p13.2
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3 copy number gain See cases [RCV000142793] Chr17:3187406..3880628 [GRCh38]
Chr17:3090700..3783922 [GRCh37]
Chr17:3037450..3730671 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3 copy number gain See cases [RCV000143610] Chr17:3168370..3852982 [GRCh38]
Chr17:3071664..3756276 [GRCh37]
Chr17:3018414..3703025 [NCBI36]
Chr17:17p13.3-13.2
likely benign|uncertain significance
Single allele deletion Normal pregnancy [RCV000161800] Chr17:3602749..3678945 [GRCh38]
Chr17:3506043..3582239 [GRCh37]
Chr17:17p13.2
not provided
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3392623-3663528)x3 copy number gain See cases [RCV000239943] Chr17:3392623..3663528 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1229G>A (p.Arg410His) single nucleotide variant Inborn genetic diseases [RCV003244687] Chr17:3585922 [GRCh38]
Chr17:3489216 [GRCh37]
Chr17:17p13.2
uncertain significance
Single allele deletion TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy [RCV000735209] Chr17:3394299..3632836 [GRCh37]
Chr17:17p13.2
likely pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557452)x1 copy number loss not specified [RCV003987207] Chr17:3505567..3557452 [GRCh37]
Chr17:17p13.2
pathogenic|likely benign
GRCh37/hg19 17p13.2(chr17:3505669-3557440)x1 copy number loss See cases [RCV000445884] Chr17:3505669..3557440 [GRCh37]
Chr17:17p13.2
likely benign
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505669-3557452)x1 copy number loss See cases [RCV000445797] Chr17:3505669..3557452 [GRCh37]
Chr17:17p13.2
conflicting data from submitters
GRCh37/hg19 17p13.2(chr17:3505485-3558334)x1 copy number loss See cases [RCV000445911] Chr17:3505485..3558334 [GRCh37]
Chr17:17p13.2
benign|likely benign
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1
pathogenic
GRCh37/hg19 17p13.2(chr17:3505669-3557297)x1 copy number loss See cases [RCV000448635] Chr17:3505669..3557297 [GRCh37]
Chr17:17p13.2
conflicting data from submitters
GRCh37/hg19 17p13.2(chr17:3505638-3559746) copy number loss Abnormal esophagus morphology [RCV000416740] Chr17:3505638..3559746 [GRCh37]
Chr17:17p13.2
benign
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1 copy number loss See cases [RCV000511267] Chr17:3392348..3631198 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.728G>T (p.Arg243Leu) single nucleotide variant Inborn genetic diseases [RCV003287490] Chr17:3590269 [GRCh38]
Chr17:3493563 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1033G>A (p.Gly345Arg) single nucleotide variant Inborn genetic diseases [RCV003251217] Chr17:3589818 [GRCh38]
Chr17:3493112 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_080704.4(TRPV1):c.63C>A (p.Cys21Ter) single nucleotide variant not provided [RCV000714771] Chr17:3592288 [GRCh38]
Chr17:3495582 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.2(chr17:3489513-3557452)x1 copy number loss not provided [RCV000683879] Chr17:3489513..3557452 [GRCh37]
Chr17:17p13.2
uncertain significance
NC_000017.11:g.(?_3489235)_(3729555_?)del deletion Spongy degeneration of central nervous system [RCV000707830]|not provided [RCV001861925] Chr17:3489235..3729555 [GRCh38]
Chr17:3392529..3632849 [GRCh37]
Chr17:17p13.2
pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1 copy number loss not provided [RCV000845794] Chr17:3505567..3557441 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 copy number loss not provided [RCV000739374] Chr17:3336162..4918458 [GRCh37]
Chr17:17p13.2
likely pathogenic
GRCh37/hg19 17p13.2(chr17:3505233-3559781)x1 copy number loss not provided [RCV000739375] Chr17:3505233..3559781 [GRCh37]
Chr17:17p13.2
benign
GRCh37/hg19 17p13.2(chr17:3505233-3561396)x1 copy number loss not provided [RCV000739376] Chr17:3505233..3561396 [GRCh37]
Chr17:17p13.2
benign
GRCh37/hg19 17p13.2(chr17:3510192-3559781)x1 copy number loss not provided [RCV000739377] Chr17:3510192..3559781 [GRCh37]
Chr17:17p13.2
benign
NM_080704.4(TRPV1):c.967A>T (p.Thr323Ser) single nucleotide variant Inborn genetic diseases [RCV003244109] Chr17:3589884 [GRCh38]
Chr17:3493178 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1 copy number loss not provided [RCV000751897] Chr17:2050166..4315506 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_080704.4(TRPV1):c.655A>G (p.Thr219Ala) single nucleotide variant not provided [RCV000970897] Chr17:3590342 [GRCh38]
Chr17:3493636 [GRCh37]
Chr17:17p13.2
benign
NM_080704.4(TRPV1):c.284+9G>A single nucleotide variant not provided [RCV000970898] Chr17:3592058 [GRCh38]
Chr17:3495352 [GRCh37]
Chr17:17p13.2
benign
NM_080704.4(TRPV1):c.2347+8G>A single nucleotide variant not provided [RCV000900941] Chr17:3571516 [GRCh38]
Chr17:3474810 [GRCh37]
Chr17:17p13.2
likely benign
NM_080704.4(TRPV1):c.1836G>A (p.Thr612=) single nucleotide variant not provided [RCV000959339] Chr17:3573900 [GRCh38]
Chr17:3477194 [GRCh37]
Chr17:17p13.2
benign
NM_080704.4(TRPV1):c.1873G>A (p.Asp625Asn) single nucleotide variant not provided [RCV000902889] Chr17:3573863 [GRCh38]
Chr17:3477157 [GRCh37]
Chr17:17p13.2
likely benign
NM_080704.4(TRPV1):c.863T>G (p.Val288Gly) single nucleotide variant Inborn genetic diseases [RCV002544969]|not provided [RCV000924488] Chr17:3589988 [GRCh38]
Chr17:3493282 [GRCh37]
Chr17:17p13.2
likely benign|uncertain significance
GRCh37/hg19 17p13.2(chr17:3431968-3518264)x1 copy number loss not provided [RCV001006861] Chr17:3431968..3518264 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1420C>A (p.Arg474=) single nucleotide variant not provided [RCV000919357] Chr17:3583394 [GRCh38]
Chr17:3486688 [GRCh37]
Chr17:17p13.2
likely benign
NM_080704.4(TRPV1):c.1857T>G (p.Pro619=) single nucleotide variant not provided [RCV000897166] Chr17:3573879 [GRCh38]
Chr17:3477173 [GRCh37]
Chr17:17p13.2
benign
NM_080704.4(TRPV1):c.1513A>G (p.Thr505Ala) single nucleotide variant not provided [RCV000954302] Chr17:3580491 [GRCh38]
Chr17:3483785 [GRCh37]
Chr17:17p13.2
benign
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1 copy number loss not provided [RCV000849845] Chr17:3505567..3557441 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1 copy number loss not provided [RCV000849925] Chr17:3505567..3557441 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3562748)x1 copy number loss not provided [RCV000849767] Chr17:3505567..3562748 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3562685)x1 copy number loss not provided [RCV000849247] Chr17:3505567..3562685 [GRCh37]
Chr17:17p13.2
pathogenic
NM_080704.4(TRPV1):c.897G>A (p.Thr299=) single nucleotide variant not provided [RCV000920732] Chr17:3589954 [GRCh38]
Chr17:3493248 [GRCh37]
Chr17:17p13.2
likely benign
GRCh37/hg19 17p13.2(chr17:3505975-3557440)x1 copy number loss not provided [RCV000847697] Chr17:3505975..3557440 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557452)x1 copy number loss not provided [RCV000847069] Chr17:3505567..3557452 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3489144-3562748)x1 copy number loss not provided [RCV000847225] Chr17:3489144..3562748 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:3505567-3562685)x1 copy number loss not provided [RCV000848673] Chr17:3505567..3562685 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1 copy number loss not provided [RCV001006860] Chr17:3392348..3631198 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1 copy number loss not provided [RCV000847783] Chr17:3505567..3557440 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1 copy number loss not provided [RCV000847802] Chr17:3505567..3557440 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1 copy number loss not provided [RCV000848843] Chr17:3505567..3557440 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1 copy number loss not provided [RCV000848322] Chr17:3505567..3557441 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3405774-3640694)x1 copy number loss not provided [RCV000848897] Chr17:3405774..3640694 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1 copy number loss not provided [RCV000849437] Chr17:3505567..3557440 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557452)x1 copy number loss not provided [RCV000849989] Chr17:3505567..3557452 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1 copy number loss not provided [RCV000848547] Chr17:3505567..3557440 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505975-3557440)x1 copy number loss not provided [RCV000848560] Chr17:3505975..3557440 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3562748)x1 copy number loss not provided [RCV000845819] Chr17:3505567..3562748 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3509831-3545112)x1 copy number loss not provided [RCV000846262] Chr17:3509831..3545112 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1 copy number loss not provided [RCV000847569] Chr17:3505567..3557440 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557452)x1 copy number loss not provided [RCV000845955] Chr17:3505567..3557452 [GRCh37]
Chr17:17p13.2
pathogenic
NM_080704.4(TRPV1):c.920C>T (p.Thr307Met) single nucleotide variant Inborn genetic diseases [RCV003270668] Chr17:3589931 [GRCh38]
Chr17:3493225 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.500A>G (p.His167Arg) single nucleotide variant Inborn genetic diseases [RCV003273961] Chr17:3591068 [GRCh38]
Chr17:3494362 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:3394299-3632836) copy number loss Primary familial dilated cardiomyopathy [RCV001195115] Chr17:3394299..3632836 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1865G>A (p.Arg622Lys) single nucleotide variant Inborn genetic diseases [RCV003240100] Chr17:3573871 [GRCh38]
Chr17:3477165 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.152G>A (p.Gly51Glu) single nucleotide variant Inborn genetic diseases [RCV003275173] Chr17:3592199 [GRCh38]
Chr17:3495493 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.261A>G (p.Pro87=) single nucleotide variant not provided [RCV000932745] Chr17:3592090 [GRCh38]
Chr17:3495384 [GRCh37]
Chr17:17p13.2
likely benign
NM_080704.4(TRPV1):c.576C>T (p.Asn192=) single nucleotide variant not provided [RCV000901676] Chr17:3590992 [GRCh38]
Chr17:3494286 [GRCh37]
Chr17:17p13.2
likely benign
NM_080704.4(TRPV1):c.1767C>G (p.Phe589Leu) single nucleotide variant not provided [RCV000953365] Chr17:3577139 [GRCh38]
Chr17:3480433 [GRCh37]
Chr17:17p13.2
likely benign
NM_080704.4(TRPV1):c.180G>A (p.Pro60=) single nucleotide variant not provided [RCV000974396] Chr17:3592171 [GRCh38]
Chr17:3495465 [GRCh37]
Chr17:17p13.2
benign
NM_080704.4(TRPV1):c.1372G>A (p.Val458Met) single nucleotide variant not provided [RCV000889269] Chr17:3585779 [GRCh38]
Chr17:3489073 [GRCh37]
Chr17:17p13.2
likely benign
NM_080704.4(TRPV1):c.624C>T (p.Ile208=) single nucleotide variant not provided [RCV000913615] Chr17:3590373 [GRCh38]
Chr17:3493667 [GRCh37]
Chr17:17p13.2
likely benign
NM_080704.4(TRPV1):c.1835C>T (p.Thr612Met) single nucleotide variant not provided [RCV000890459] Chr17:3573901 [GRCh38]
Chr17:3477195 [GRCh37]
Chr17:17p13.2
likely benign
GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1 copy number loss not provided [RCV001537893] Chr17:2313096..3735525 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:3146183-3646235)x3 copy number gain not provided [RCV001006859] Chr17:3146183..3646235 [GRCh37]
Chr17:17p13.3-13.2
likely benign
NC_000017.10:g.(?_3392519)_(3564038_?)del deletion Ocular cystinosis [RCV001381609]|Spongy degeneration of central nervous system [RCV001383990] Chr17:3392519..3564038 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2646815-3698838)x3 copy number gain not provided [RCV001834365] Chr17:2646815..3698838 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
NC_000017.10:g.(?_3504346)_(3561464_?)del deletion Ocular cystinosis [RCV003104159] Chr17:3504346..3561464 [GRCh37]
Chr17:17p13.2
pathogenic
NC_000017.10:g.(?_1173858)_(3819519_?)dup duplication not provided [RCV002014058] Chr17:1173858..3819519 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
NC_000017.10:g.(?_2541583)_(3819519_?)del deletion not provided [RCV001901409] Chr17:2541583..3819519 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NC_000017.10:g.(?_3392509)_(3571820_?)del deletion Ocular cystinosis [RCV003120774]|Spongy degeneration of central nervous system [RCV003120773]|not provided [RCV002014486] Chr17:3392509..3571820 [GRCh37]
Chr17:17p13.2
pathogenic|uncertain significance|no classifications from unflagged records
NM_080704.4(TRPV1):c.2165G>A (p.Arg722His) single nucleotide variant Malignant hyperthermia of anesthesia [RCV002225239] Chr17:3572188 [GRCh38]
Chr17:3475482 [GRCh37]
Chr17:17p13.2
uncertain significance
NC_000017.10:g.(?_3447853)_(3571820_?)dup duplication not provided [RCV003116642] Chr17:3447853..3571820 [GRCh37]
Chr17:17p13.2
uncertain significance
NC_000017.10:g.(?_3379454)_(3819519_?)del deletion Spongy degeneration of central nervous system [RCV003119152] Chr17:3379454..3819519 [GRCh37]
Chr17:17p13.2
pathogenic
NM_080704.4(TRPV1):c.520A>T (p.Ile174Phe) single nucleotide variant Inborn genetic diseases [RCV003299917] Chr17:3591048 [GRCh38]
Chr17:3494342 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.2282A>C (p.Asn761Thr) single nucleotide variant Inborn genetic diseases [RCV003286644] Chr17:3571589 [GRCh38]
Chr17:3474883 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.993C>G (p.Asn331Lys) single nucleotide variant See cases [RCV002463813] Chr17:3589858 [GRCh38]
Chr17:3493152 [GRCh37]
Chr17:17p13.2
likely pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3 copy number gain not provided [RCV002472591] Chr17:1095592..3484368 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_080704.4(TRPV1):c.307G>A (p.Ala103Thr) single nucleotide variant Inborn genetic diseases [RCV002754038] Chr17:3591331 [GRCh38]
Chr17:3494625 [GRCh37]
Chr17:17p13.2
likely benign
GRCh37/hg19 17p13.2(chr17:3392984-3631198)x1 copy number loss not provided [RCV002475719] Chr17:3392984..3631198 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.691G>A (p.Ala231Thr) single nucleotide variant Inborn genetic diseases [RCV002728493] Chr17:3590306 [GRCh38]
Chr17:3493600 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.229A>T (p.Thr77Ser) single nucleotide variant Inborn genetic diseases [RCV002729218] Chr17:3592122 [GRCh38]
Chr17:3495416 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1290C>A (p.Phe430Leu) single nucleotide variant Inborn genetic diseases [RCV002774004] Chr17:3585861 [GRCh38]
Chr17:3489155 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1084G>A (p.Glu362Lys) single nucleotide variant Inborn genetic diseases [RCV002997312] Chr17:3588328 [GRCh38]
Chr17:3491622 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.2503G>A (p.Ala835Thr) single nucleotide variant Inborn genetic diseases [RCV002753822] Chr17:3566832 [GRCh38]
Chr17:3470126 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.2017A>C (p.Ile673Leu) single nucleotide variant Inborn genetic diseases [RCV002865659] Chr17:3573719 [GRCh38]
Chr17:3477013 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.871G>A (p.Ala291Thr) single nucleotide variant Inborn genetic diseases [RCV002818207] Chr17:3589980 [GRCh38]
Chr17:3493274 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.593G>A (p.Ser198Asn) single nucleotide variant Inborn genetic diseases [RCV002688281] Chr17:3590975 [GRCh38]
Chr17:3494269 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1643G>A (p.Gly548Asp) single nucleotide variant Inborn genetic diseases [RCV002952243] Chr17:3577668 [GRCh38]
Chr17:3480962 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.673G>A (p.Gly225Arg) single nucleotide variant Inborn genetic diseases [RCV002845631] Chr17:3590324 [GRCh38]
Chr17:3493618 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.112C>A (p.Pro38Thr) single nucleotide variant Inborn genetic diseases [RCV002703883] Chr17:3592239 [GRCh38]
Chr17:3495533 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.965C>T (p.Pro322Leu) single nucleotide variant Inborn genetic diseases [RCV002830684] Chr17:3589886 [GRCh38]
Chr17:3493180 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1300A>G (p.Ile434Val) single nucleotide variant Inborn genetic diseases [RCV002788171] Chr17:3585851 [GRCh38]
Chr17:3489145 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.244A>G (p.Ile82Val) single nucleotide variant Inborn genetic diseases [RCV003003496] Chr17:3592107 [GRCh38]
Chr17:3495401 [GRCh37]
Chr17:17p13.2
likely benign
NM_080704.4(TRPV1):c.42C>A (p.Asp14Glu) single nucleotide variant Inborn genetic diseases [RCV002986049] Chr17:3592309 [GRCh38]
Chr17:3495603 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.23A>C (p.Asp8Ala) single nucleotide variant Inborn genetic diseases [RCV002875071] Chr17:3592328 [GRCh38]
Chr17:3495622 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.848C>T (p.Ser283Leu) single nucleotide variant Inborn genetic diseases [RCV002831246] Chr17:3590003 [GRCh38]
Chr17:3493297 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.277G>A (p.Gly93Ser) single nucleotide variant Inborn genetic diseases [RCV002668962] Chr17:3592074 [GRCh38]
Chr17:3495368 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.908C>T (p.Thr303Met) single nucleotide variant Inborn genetic diseases [RCV002769757] Chr17:3589943 [GRCh38]
Chr17:3493237 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1846T>C (p.Trp616Arg) single nucleotide variant Inborn genetic diseases [RCV002989325] Chr17:3573890 [GRCh38]
Chr17:3477184 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.319G>A (p.Glu107Lys) single nucleotide variant Inborn genetic diseases [RCV002960686] Chr17:3591319 [GRCh38]
Chr17:3494613 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.587C>T (p.Thr196Met) single nucleotide variant Inborn genetic diseases [RCV002719678] Chr17:3590981 [GRCh38]
Chr17:3494275 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.782A>G (p.Gln261Arg) single nucleotide variant Inborn genetic diseases [RCV003184707] Chr17:3590069 [GRCh38]
Chr17:3493363 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.2357G>A (p.Arg786Lys) single nucleotide variant Inborn genetic diseases [RCV003184752] Chr17:3566978 [GRCh38]
Chr17:3470272 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1165G>C (p.Asp389His) single nucleotide variant Inborn genetic diseases [RCV003178538] Chr17:3588247 [GRCh38]
Chr17:3491541 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1209C>G (p.Ser403Arg) single nucleotide variant Inborn genetic diseases [RCV003206590] Chr17:3588203 [GRCh38]
Chr17:3491497 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.2509G>A (p.Gly837Arg) single nucleotide variant Inborn genetic diseases [RCV003175941] Chr17:3566826 [GRCh38]
Chr17:3470120 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1400A>C (p.Glu467Ala) single nucleotide variant Inborn genetic diseases [RCV003194721] Chr17:3583414 [GRCh38]
Chr17:3486708 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.1237A>G (p.Met413Val) single nucleotide variant Inborn genetic diseases [RCV003284887] Chr17:3585914 [GRCh38]
Chr17:3489208 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12
pathogenic
NM_080704.4(TRPV1):c.70C>T (p.Pro24Ser) single nucleotide variant Inborn genetic diseases [RCV003345461] Chr17:3592281 [GRCh38]
Chr17:3495575 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_080704.4(TRPV1):c.567G>C (p.Glu189Asp) single nucleotide variant Inborn genetic diseases [RCV003383705] Chr17:3591001 [GRCh38]
Chr17:3494295 [GRCh37]
Chr17:17p13.2
uncertain significance
Single allele deletion not provided [RCV003448682] Chr17:2..4611147 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2433587-3484368)x1 copy number loss not provided [RCV003483311] Chr17:2433587..3484368 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3489513-3557205)x1 copy number loss not specified [RCV003987213] Chr17:3489513..3557205 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 copy number loss not specified [RCV003987214] Chr17:9474..6017500 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3300933-3536977)x1 copy number loss not specified [RCV003987243] Chr17:3300933..3536977 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2674657-3484368)x3 copy number gain not specified [RCV003987223] Chr17:2674657..3484368 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1 copy number loss not specified [RCV003987205] Chr17:3505567..3557441 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3505568-3557452)x1 copy number loss not specified [RCV003987208] Chr17:3505568..3557452 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3489513-3557441)x1 copy number loss not specified [RCV003987211] Chr17:3489513..3557441 [GRCh37]
Chr17:17p13.2
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4213
Count of miRNA genes:769
Interacting mature miRNAs:887
Transcripts:ENST00000174621, ENST00000310522, ENST00000399756, ENST00000399759, ENST00000425167, ENST00000570742, ENST00000571088, ENST00000574085, ENST00000576351
Prediction methods: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.

Markers in Region
SHGC-33478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,505,067 - 3,505,216UniSTSGRCh37
Build 36173,451,816 - 3,451,965RGDNCBI36
Celera173,518,784 - 3,518,933RGD
Cytogenetic Map17p13.2UniSTS
HuRef173,396,820 - 3,396,969UniSTS
TNG Radiation Hybrid Map171840.0UniSTS
Stanford-G3 RH Map17240.0UniSTS
GeneMap99-GB4 RH Map1741.72UniSTS
Whitehead-RH Map1741.0UniSTS
NCBI RH Map1753.8UniSTS
GeneMap99-G3 RH Map17240.0UniSTS
RH94216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,468,972 - 3,469,146UniSTSGRCh37
Build 36173,415,722 - 3,415,896RGDNCBI36
Celera173,482,706 - 3,482,880RGD
Cytogenetic Map17p13.2UniSTS
HuRef173,360,681 - 3,360,855UniSTS
GeneMap99-GB4 RH Map1739.58UniSTS
D17S683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,509,187 - 3,509,295UniSTSGRCh37
Build 36173,455,936 - 3,456,044RGDNCBI36
Celera173,522,904 - 3,523,012RGD
Cytogenetic Map17p13.2UniSTS
HuRef173,400,940 - 3,401,048UniSTS
SHGC-132503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,505,211 - 3,505,419UniSTSGRCh37
Build 36173,451,960 - 3,452,168RGDNCBI36
Celera173,518,928 - 3,519,136RGD
Cytogenetic Map17p13.2UniSTS
HuRef173,396,964 - 3,397,172UniSTS
TNG Radiation Hybrid Map171853.0UniSTS
SHGC-147347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,500,464 - 3,500,735UniSTSGRCh37
Build 36173,447,213 - 3,447,484RGDNCBI36
Celera173,514,181 - 3,514,452RGD
Cytogenetic Map17p13.2UniSTS
HuRef173,392,170 - 3,392,441UniSTS
TNG Radiation Hybrid Map171861.0UniSTS
STS-T82277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,505,217 - 3,505,379UniSTSGRCh37
Build 36173,451,966 - 3,452,128RGDNCBI36
Celera173,518,934 - 3,519,096RGD
Cytogenetic Map17p13.2UniSTS
HuRef173,396,970 - 3,397,132UniSTS
GeneMap99-GB4 RH Map1739.58UniSTS
SHGC-33552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,505,119 - 3,505,202UniSTSGRCh37
Build 36173,451,868 - 3,451,951RGDNCBI36
Celera173,518,836 - 3,518,919RGD
Cytogenetic Map17p13.2UniSTS
HuRef173,396,872 - 3,396,955UniSTS
Stanford-G3 RH Map17245.0UniSTS
GeneMap99-G3 RH Map17245.0UniSTS
D17S2148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,497,645 - 3,497,785UniSTSGRCh37
Build 36173,444,394 - 3,444,534RGDNCBI36
Celera173,511,362 - 3,511,502RGD
Cytogenetic Map17p13.2UniSTS
HuRef173,389,351 - 3,389,491UniSTS
L18441  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16q24UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 336 450 560 156 137 152 1615 125 1362 38 703 304 4 396 1203
Low 1903 2373 951 312 1333 156 2450 2012 2231 103 476 967 158 808 1583
Below cutoff 162 157 159 119 385 121 230 52 104 172 208 267 8 2 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA700014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF196175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF196176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF235160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ272063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY131289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY986821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF308801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ177332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ177333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ898279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ695206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000310522   ⟹   ENSP00000311692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,566,815 - 3,592,350 (-)Ensembl
RefSeq Acc Id: ENST00000399756   ⟹   ENSP00000382659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,565,794 - 3,592,877 (-)Ensembl
RefSeq Acc Id: ENST00000399759   ⟹   ENSP00000382661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,565,444 - 3,595,831 (-)Ensembl
RefSeq Acc Id: ENST00000425167   ⟹   ENSP00000409627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,566,778 - 3,592,367 (-)Ensembl
RefSeq Acc Id: ENST00000570742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,573,822 - 3,577,888 (-)Ensembl
RefSeq Acc Id: ENST00000571088   ⟹   ENSP00000461007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,565,444 - 3,597,098 (-)Ensembl
RefSeq Acc Id: ENST00000572705   ⟹   ENSP00000459962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,565,446 - 3,609,411 (-)Ensembl
RefSeq Acc Id: ENST00000574085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,566,778 - 3,592,367 (-)Ensembl
RefSeq Acc Id: ENST00000576351   ⟹   ENSP00000459042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,566,813 - 3,592,383 (-)Ensembl
RefSeq Acc Id: ENST00000650505   ⟹   ENSP00000497337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,565,459 - 3,593,159 (-)Ensembl
RefSeq Acc Id: NM_018727   ⟹   NP_061197
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,565,446 - 3,597,042 (-)NCBI
GRCh37173,468,740 - 3,512,705 (-)ENTREZGENE
Build 36173,415,490 - 3,447,085 (-)NCBI Archive
HuRef173,360,449 - 3,404,458 (-)ENTREZGENE
CHM1_1173,479,568 - 3,511,120 (-)NCBI
T2T-CHM13v2.0173,454,482 - 3,486,076 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080704   ⟹   NP_542435
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,565,446 - 3,609,411 (-)NCBI
GRCh37173,468,740 - 3,512,705 (-)ENTREZGENE
Build 36173,415,490 - 3,459,454 (-)NCBI Archive
HuRef173,360,449 - 3,404,458 (-)ENTREZGENE
CHM1_1173,479,568 - 3,523,488 (-)NCBI
T2T-CHM13v2.0173,454,482 - 3,498,442 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080705   ⟹   NP_542436
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,565,446 - 3,595,831 (-)NCBI
GRCh37173,468,740 - 3,512,705 (-)ENTREZGENE
Build 36173,415,490 - 3,445,874 (-)NCBI Archive
HuRef173,360,449 - 3,404,458 (-)ENTREZGENE
CHM1_1173,479,568 - 3,509,909 (-)NCBI
T2T-CHM13v2.0173,454,482 - 3,484,865 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080706   ⟹   NP_542437
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,565,446 - 3,592,877 (-)NCBI
GRCh37173,468,740 - 3,512,705 (-)ENTREZGENE
Build 36173,415,490 - 3,442,920 (-)NCBI Archive
HuRef173,360,449 - 3,404,458 (-)ENTREZGENE
CHM1_1173,479,568 - 3,506,976 (-)NCBI
T2T-CHM13v2.0173,454,482 - 3,481,922 (-)NCBI
Sequence:
RefSeq Acc Id: NP_542435   ⟸   NM_080704
- UniProtKB: Q9NQ74 (UniProtKB/Swiss-Prot),   Q9H304 (UniProtKB/Swiss-Prot),   Q9H303 (UniProtKB/Swiss-Prot),   Q9H0G9 (UniProtKB/Swiss-Prot),   Q3LU47 (UniProtKB/Swiss-Prot),   A2RUA9 (UniProtKB/Swiss-Prot),   Q9NY22 (UniProtKB/Swiss-Prot),   Q8NER1 (UniProtKB/Swiss-Prot),   Q09HS5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_061197   ⟸   NM_018727
- UniProtKB: Q9NQ74 (UniProtKB/Swiss-Prot),   Q9H304 (UniProtKB/Swiss-Prot),   Q9H303 (UniProtKB/Swiss-Prot),   Q9H0G9 (UniProtKB/Swiss-Prot),   Q3LU47 (UniProtKB/Swiss-Prot),   A2RUA9 (UniProtKB/Swiss-Prot),   Q9NY22 (UniProtKB/Swiss-Prot),   Q8NER1 (UniProtKB/Swiss-Prot),   Q09HS5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_542436   ⟸   NM_080705
- UniProtKB: Q9NQ74 (UniProtKB/Swiss-Prot),   Q9H304 (UniProtKB/Swiss-Prot),   Q9H303 (UniProtKB/Swiss-Prot),   Q9H0G9 (UniProtKB/Swiss-Prot),   Q3LU47 (UniProtKB/Swiss-Prot),   A2RUA9 (UniProtKB/Swiss-Prot),   Q9NY22 (UniProtKB/Swiss-Prot),   Q8NER1 (UniProtKB/Swiss-Prot),   Q09HS5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_542437   ⟸   NM_080706
- UniProtKB: Q9NQ74 (UniProtKB/Swiss-Prot),   Q9H304 (UniProtKB/Swiss-Prot),   Q9H303 (UniProtKB/Swiss-Prot),   Q9H0G9 (UniProtKB/Swiss-Prot),   Q3LU47 (UniProtKB/Swiss-Prot),   A2RUA9 (UniProtKB/Swiss-Prot),   Q9NY22 (UniProtKB/Swiss-Prot),   Q8NER1 (UniProtKB/Swiss-Prot),   Q09HS5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000382659   ⟸   ENST00000399756
RefSeq Acc Id: ENSP00000382661   ⟸   ENST00000399759
RefSeq Acc Id: ENSP00000409627   ⟸   ENST00000425167
RefSeq Acc Id: ENSP00000461007   ⟸   ENST00000571088
RefSeq Acc Id: ENSP00000497337   ⟸   ENST00000650505
RefSeq Acc Id: ENSP00000459962   ⟸   ENST00000572705
RefSeq Acc Id: ENSP00000311692   ⟸   ENST00000310522
RefSeq Acc Id: ENSP00000459042   ⟸   ENST00000576351
Protein Domains
Ion transport

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NER1-F1-model_v2 AlphaFold Q8NER1 1-839 view protein structure

Promoters
RGD ID:7233349
Promoter ID:EPDNEW_H22421
Type:multiple initiation site
Name:TRPV1_1
Description:transient receptor potential cation channel subfamily V member1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22422  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,593,170 - 3,593,230EPDNEW
RGD ID:7233353
Promoter ID:EPDNEW_H22422
Type:initiation region
Name:TRPV1_2
Description:transient receptor potential cation channel subfamily V member1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22421  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,597,075 - 3,597,135EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12716 AgrOrtholog
COSMIC TRPV1 COSMIC
Ensembl Genes ENSG00000196689 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000310522.5 UniProtKB/TrEMBL
  ENST00000399756 ENTREZGENE
  ENST00000399756.8 UniProtKB/Swiss-Prot
  ENST00000399759 ENTREZGENE
  ENST00000399759.7 UniProtKB/Swiss-Prot
  ENST00000425167.6 UniProtKB/TrEMBL
  ENST00000571088 ENTREZGENE
  ENST00000571088.5 UniProtKB/Swiss-Prot
  ENST00000572705 ENTREZGENE
  ENST00000572705.2 UniProtKB/Swiss-Prot
  ENST00000576351.5 UniProtKB/TrEMBL
  ENST00000650505.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196689 GTEx
HGNC ID HGNC:12716 ENTREZGENE
Human Proteome Map TRPV1 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPV1-4_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7442 UniProtKB/Swiss-Prot
NCBI Gene 7442 ENTREZGENE
OMIM 602076 OMIM
PANTHER PTHR10582 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10582:SF17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37329 PharmGKB, RGD
PRINTS TRPVRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3ISI9_HUMAN UniProtKB/TrEMBL
  A2RUA9 ENTREZGENE
  E7EQ78_HUMAN UniProtKB/TrEMBL
  E7ESJ2_HUMAN UniProtKB/TrEMBL
  I3L1R6_HUMAN UniProtKB/TrEMBL
  Q09HS5 ENTREZGENE, UniProtKB/TrEMBL
  Q3LU46_HUMAN UniProtKB/TrEMBL
  Q3LU47 ENTREZGENE
  Q52PU4_HUMAN UniProtKB/TrEMBL
  Q8NER1 ENTREZGENE
  Q9H0G9 ENTREZGENE
  Q9H303 ENTREZGENE
  Q9H304 ENTREZGENE
  Q9NQ74 ENTREZGENE
  Q9NY22 ENTREZGENE
  TRPV1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2RUA9 UniProtKB/Swiss-Prot
  Q3LU47 UniProtKB/Swiss-Prot
  Q9H0G9 UniProtKB/Swiss-Prot
  Q9H303 UniProtKB/Swiss-Prot
  Q9H304 UniProtKB/Swiss-Prot
  Q9NQ74 UniProtKB/Swiss-Prot
  Q9NY22 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 TRPV1  transient receptor potential cation channel subfamily V member 1  TRPV1  transient receptor potential cation channel, subfamily V, member 1  Symbol and/or name change 5135510 APPROVED