CleftGeneDB-Search

Gene: KISS1R

Basic information

Tag	Content
Uniprot ID	Q969F8; A5D8U2; B2RTV1; Q96QG0;
Entrez ID	84634
Genbank protein ID	ACG60651.1; CAC40817.1; AAK33126.1; EAW69583.1; AAP82930.1; AAI41813.1; AAI40826.1; BAB55446.1; AAP82929.1; AAK83235.1;
Genbank nucleotide ID	NM_032551.4
Ensembl protein ID	ENSP00000234371
Ensembl nucleotide ID	ENSG00000116014
Gene name	KiSS-1 receptor
Gene symbol	KISS1R
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26199944
Functional description	Receptor for metastin (kisspeptin-54 or kp-54), a C-terminally amidated peptide of KiSS1. KiSS1 is a metastasis suppressor protein that suppresses metastases in malignant melanomas and in some breast carcinomas without affecting tumorigenicity. The metastasis suppressor properties may be mediated in part by cell cycle arrest and induction of apoptosis in malignant cells. The receptor is essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/KISS1R system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood. The receptor is also probably involved in the regulation and fine-tuning of trophoblast invasion generated by the trophoblast itself. Analysis of the transduction pathways activated by the receptor identifies coupling to phospholipase C and intracellular calcium release through pertussis toxin-insensitive G(q) proteins.
Sequence	MHTVATSGPN ASWGAPANAS GCPGCGANAS DGPVPSPRAV DAWLVPLFFA ALMLLGLVGN 60 SLVIYVICRH KPMRTVTNFY IANLAATDVT FLLCCVPFTA LLYPLPGWVL GDFMCKFVNY 120 IQQVSVQATC ATLTAMSVDR WYVTVFPLRA LHRRTPRLAL AVSLSIWVGS AAVSAPVLAL 180 HRLSPGPRAY CSEAFPSRAL ERAFALYNLL ALYLLPLLAT CACYAAMLRH LGRVAVRPAP 240 ADSALQGQVL AERAGAVRAK VSRLVAAVVL LFAACWGPIQ LFLVLQALGP AGSWHPRSYA 300 AYALKTWAHC MSYSNSALNP LLYAFLGSHF RQAFRRVCPC APRRPRRPRR PGPSDPAAPH 360 AELLRLGSHP APARAQKPGS SGLAARGLCV LGEDNAPL 398

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	KISS1R		A0A452FYY7	Capra hircus	Prediction	More>>
1:1 ortholog	KISS1R	84634	Q969F8	Homo sapiens	Publication	More>>
1:1 ortholog	Kiss1r	114229	Q91V45	Mus musculus	Prediction	More>>
1:1 ortholog	KISS1R	741289	A0A2J8J2E8	Pan troglodytes	Prediction	More>>
1:1 ortholog	KISS1R	733704	Q1KS50	Sus scrofa	Prediction	More>>
1:1 ortholog	Kiss1r	78976	A0A1W2Q6L7	Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
KISS1R	c.587C>A; p.P196H (heterozygous)	NGS and Sanger sequencing	26199944

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1243679715	p.His2Asn	missense variant	-	NC_000019.10:g.917506C>A	gnomAD
rs1339278254	p.Thr3Ala	missense variant	-	NC_000019.10:g.917509A>G	gnomAD
rs1417296708	p.Thr6Lys	missense variant	-	NC_000019.10:g.917519C>A	gnomAD
rs200181141	p.Ser7Cys	missense variant	-	NC_000019.10:g.917522C>G	1000Genomes,gnomAD
rs1393776697	p.Gly8Arg	missense variant	-	NC_000019.10:g.917524G>C	gnomAD
rs1393776697	p.Gly8Arg	missense variant	-	NC_000019.10:g.917524G>A	gnomAD
rs1346230484	p.Pro9Thr	missense variant	-	NC_000019.10:g.917527C>A	gnomAD
rs1346230484	p.Pro9Ser	missense variant	-	NC_000019.10:g.917527C>T	gnomAD
rs753548042	p.Asn10Ser	missense variant	-	NC_000019.10:g.917531A>G	ExAC,TOPMed,gnomAD
rs1357944146	p.Ala11Ser	missense variant	-	NC_000019.10:g.917533G>T	TOPMed,gnomAD
rs1234398387	p.Ala11Glu	missense variant	-	NC_000019.10:g.917534C>A	TOPMed,gnomAD
rs1357944146	p.Ala11Thr	missense variant	-	NC_000019.10:g.917533G>A	TOPMed,gnomAD
rs1333502246	p.Ser12Phe	missense variant	-	NC_000019.10:g.917537C>T	TOPMed,gnomAD
rs1285905457	p.Trp13Leu	missense variant	-	NC_000019.10:g.917540G>T	gnomAD
rs754727417	p.Gly14Glu	missense variant	-	NC_000019.10:g.917543G>A	ExAC,gnomAD
rs1260704824	p.Ala15Ser	missense variant	-	NC_000019.10:g.917545G>T	gnomAD
rs956206302	p.Ala15Glu	missense variant	-	NC_000019.10:g.917546C>A	TOPMed,gnomAD
rs756986700	p.Pro16Arg	missense variant	-	NC_000019.10:g.917549C>G	ExAC,TOPMed,gnomAD
rs756986700	p.Pro16Leu	missense variant	-	NC_000019.10:g.917549C>T	ExAC,TOPMed,gnomAD
rs1417306225	p.Ala17Thr	missense variant	-	NC_000019.10:g.917551G>A	gnomAD
rs914705868	p.Ser20Thr	missense variant	-	NC_000019.10:g.917560T>A	TOPMed
rs914705868	p.Ser20Ala	missense variant	-	NC_000019.10:g.917560T>G	TOPMed
rs1474265172	p.Cys22Phe	missense variant	-	NC_000019.10:g.917567G>T	gnomAD
rs1160308248	p.Pro23Gln	missense variant	-	NC_000019.10:g.917570C>A	gnomAD
rs1409005527	p.Gly24Asp	missense variant	-	NC_000019.10:g.917573G>A	gnomAD
rs1157421470	p.Cys25Tyr	missense variant	-	NC_000019.10:g.917576G>A	gnomAD
rs757918057	p.Ala27Thr	missense variant	-	NC_000019.10:g.917581G>A	ExAC,gnomAD
rs757918057	p.Ala27Ser	missense variant	-	NC_000019.10:g.917581G>T	ExAC,gnomAD
rs557161844	p.Ala27Gly	missense variant	-	NC_000019.10:g.917582C>G	1000Genomes
rs368188463	p.Gly32Ser	missense variant	-	NC_000019.10:g.917596G>A	ESP,TOPMed,gnomAD
rs746331693	p.Gly32Val	missense variant	-	NC_000019.10:g.917597G>T	ExAC,gnomAD
rs368188463	p.Gly32Arg	missense variant	-	NC_000019.10:g.917596G>C	ESP,TOPMed,gnomAD
rs1291209113	p.Pro33Leu	missense variant	-	NC_000019.10:g.917600C>T	TOPMed
rs770166092	p.Pro35His	missense variant	-	NC_000019.10:g.917606C>A	ExAC,TOPMed,gnomAD
rs770166092	p.Pro35Leu	missense variant	-	NC_000019.10:g.917606C>T	ExAC,TOPMed,gnomAD
rs1280725412	p.Pro37Ser	missense variant	-	NC_000019.10:g.917611C>T	TOPMed,gnomAD
rs1222810176	p.Arg38Trp	missense variant	-	NC_000019.10:g.917614C>T	gnomAD
rs1283668884	p.Arg38Pro	missense variant	-	NC_000019.10:g.917615G>C	gnomAD
rs1211595756	p.Ala39Val	missense variant	-	NC_000019.10:g.917618C>T	TOPMed,gnomAD
rs768932876	p.Asp41Asn	missense variant	-	NC_000019.10:g.917623G>A	ExAC,gnomAD
rs1469857955	p.Trp43Arg	missense variant	-	NC_000019.10:g.917629T>C	gnomAD
rs1482254411	p.Trp43Ser	missense variant	-	NC_000019.10:g.917630G>C	TOPMed
rs1157026137	p.Leu44Pro	missense variant	-	NC_000019.10:g.917633T>C	gnomAD
rs1462773854	p.Pro46Leu	missense variant	-	NC_000019.10:g.917639C>T	TOPMed
NCI-TCGA novel	p.Pro46Arg	missense variant	-	NC_000019.10:g.917639C>G	NCI-TCGA
rs1397339686	p.Pro46Ser	missense variant	-	NC_000019.10:g.917638C>T	TOPMed,gnomAD
rs1173327814	p.Leu47His	missense variant	-	NC_000019.10:g.917642T>A	gnomAD
rs1256478891	p.Phe48Ile	missense variant	-	NC_000019.10:g.917644T>A	TOPMed
rs773252073	p.Ala50Glu	missense variant	-	NC_000019.10:g.917651C>A	ExAC,gnomAD
rs1441086838	p.Leu52Arg	missense variant	-	NC_000019.10:g.917657T>G	gnomAD
rs1306610242	p.Met53Leu	missense variant	-	NC_000019.10:g.917659A>T	TOPMed,gnomAD
rs753724759	p.Leu55Val	missense variant	-	NC_000019.10:g.917665C>G	ExAC,TOPMed,gnomAD
rs1345714356	p.Leu55Arg	missense variant	-	NC_000019.10:g.917666T>G	TOPMed,gnomAD
rs147989869	p.Gly56Asp	missense variant	-	NC_000019.10:g.917669G>A	ESP,TOPMed
RCV000056252	p.Gly56Ter	frameshift	-	NC_000019.10:g.917669del	ClinVar
rs1452815582	p.Leu57Pro	missense variant	-	NC_000019.10:g.917672T>C	TOPMed
COSM3543753	p.Gly59Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.917677G>A	NCI-TCGA Cosmic
rs1273866631	p.Val63Phe	missense variant	-	NC_000019.10:g.917689G>T	gnomAD
rs372049424	p.Tyr65Ser	missense variant	-	NC_000019.10:g.917696A>C	ESP,ExAC,TOPMed,gnomAD
rs372049424	p.Tyr65Cys	missense variant	-	NC_000019.10:g.917696A>G	ESP,ExAC,TOPMed,gnomAD
rs867908059	p.Val66Ile	missense variant	-	NC_000019.10:g.917698G>A	TOPMed,gnomAD
rs758007675	p.His70Tyr	missense variant	-	NC_000019.10:g.917710C>T	ExAC
rs777461760	p.His70Gln	missense variant	-	NC_000019.10:g.917712C>G	ExAC,gnomAD
rs777461760	p.His70Gln	missense variant	-	NC_000019.10:g.917712C>A	ExAC,gnomAD
rs751107234	p.Lys71Arg	missense variant	-	NC_000019.10:g.917714A>G	ExAC
rs376656467	p.Pro72Gln	missense variant	-	NC_000019.10:g.917717C>A	ESP,ExAC,TOPMed,gnomAD
rs376656467	p.Pro72Arg	missense variant	-	NC_000019.10:g.917717C>G	ESP,ExAC,TOPMed,gnomAD
rs768861954	p.Arg74Gly	missense variant	-	NC_000019.10:g.917722C>G	ExAC,TOPMed,gnomAD
rs983306617	p.Arg74Gln	missense variant	-	NC_000019.10:g.917723G>A	gnomAD
rs1328620032	p.Val76Met	missense variant	-	NC_000019.10:g.917728G>A	gnomAD
rs779127070	p.Thr77Ser	missense variant	-	NC_000019.10:g.917732C>G	ExAC,gnomAD
rs540538484	p.Asn78Ser	missense variant	-	NC_000019.10:g.917735A>G	1000Genomes,ExAC,gnomAD
rs1329120167	p.Asn78Lys	missense variant	-	NC_000019.10:g.917736C>A	gnomAD
rs1047587176	p.Tyr80His	missense variant	-	NC_000019.10:g.917740T>C	TOPMed,gnomAD
rs1228617980	p.Tyr80Cys	missense variant	-	NC_000019.10:g.917741A>G	gnomAD
rs887601082	p.Ile81Leu	missense variant	-	NC_000019.10:g.917743A>C	TOPMed
rs908675955	p.Ala82Gly	missense variant	-	NC_000019.10:g.918544C>G	TOPMed,gnomAD
rs369796710	p.Leu84Val	missense variant	-	NC_000019.10:g.918549C>G	ESP,ExAC,TOPMed,gnomAD
rs1318987335	p.Ala85Val	missense variant	-	NC_000019.10:g.918553C>T	TOPMed,gnomAD
rs1318987335	p.Ala85Glu	missense variant	-	NC_000019.10:g.918553C>A	TOPMed,gnomAD
rs1260558137	p.Ala86Asp	missense variant	-	NC_000019.10:g.918556C>A	gnomAD
rs1239994909	p.Ala86Thr	missense variant	-	NC_000019.10:g.918555G>A	gnomAD
rs1258456090	p.Asp88His	missense variant	-	NC_000019.10:g.918561G>C	TOPMed
rs1213734280	p.Val89Met	missense variant	-	NC_000019.10:g.918564G>A	gnomAD
rs944145153	p.Thr90Ser	missense variant	-	NC_000019.10:g.918568C>G	TOPMed,gnomAD
rs944145153	p.Thr90Ile	missense variant	-	NC_000019.10:g.918568C>T	TOPMed,gnomAD
rs1365607627	p.Leu92Val	missense variant	-	NC_000019.10:g.918573C>G	TOPMed,gnomAD
rs1485596425	p.Cys94Phe	missense variant	-	NC_000019.10:g.918580G>T	gnomAD
rs141767649	p.Cys95Trp	missense variant	-	NC_000019.10:g.918584C>G	ESP,ExAC,TOPMed,gnomAD
rs1180792655	p.Cys95Phe	missense variant	-	NC_000019.10:g.918583G>T	gnomAD
rs762774426	p.Leu101Val	missense variant	-	NC_000019.10:g.918600C>G	ExAC,TOPMed,gnomAD
rs104894703	p.Leu102Pro	missense variant	-	NC_000019.10:g.918604T>C	ExAC,TOPMed,gnomAD
rs104894703	p.Leu102Pro	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.918604T>C	UniProt,dbSNP
VAR_043906	p.Leu102Pro	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.918604T>C	UniProt
RCV000030882	p.Leu102Pro	missense variant	Hypogonadotropic hypogonadism 8 without anosmia	NC_000019.10:g.918604T>C	ClinVar
COSM1004176	p.Tyr103Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.918607A>T	NCI-TCGA Cosmic
rs773834075	p.Tyr103Ter	stop gained	-	NC_000019.10:g.918608C>A	ExAC,TOPMed,gnomAD
rs1376019387	p.Pro104Arg	missense variant	-	NC_000019.10:g.918610C>G	gnomAD
rs1376019387	p.Pro104Leu	missense variant	-	NC_000019.10:g.918610C>T	gnomAD
rs138559034	p.Pro104Ser	missense variant	-	NC_000019.10:g.918609C>T	ESP,ExAC,TOPMed,gnomAD
rs766983025	p.Pro106Ser	missense variant	-	NC_000019.10:g.918615C>T	ExAC,TOPMed,gnomAD
rs1308801153	p.Gly107Asp	missense variant	-	NC_000019.10:g.918619G>A	gnomAD
rs1392246068	p.Gly107Cys	missense variant	-	NC_000019.10:g.918618G>T	gnomAD
rs373286653	p.Val109Ala	missense variant	-	NC_000019.10:g.918625T>C	ESP,TOPMed,gnomAD
rs1281429542	p.Leu110Pro	missense variant	-	NC_000019.10:g.918628T>C	gnomAD
rs1281429542	p.Leu110Arg	missense variant	-	NC_000019.10:g.918628T>G	gnomAD
rs1208597798	p.Gly111Asp	missense variant	-	NC_000019.10:g.918631G>A	gnomAD
rs765722564	p.Asp112Asn	missense variant	-	NC_000019.10:g.918633G>A	ExAC,gnomAD
rs1237190238	p.Phe113Leu	missense variant	-	NC_000019.10:g.918638C>A	TOPMed,gnomAD
rs753075267	p.Met114Val	missense variant	-	NC_000019.10:g.918639A>G	ExAC,TOPMed,gnomAD
rs753075267	p.Met114Leu	missense variant	-	NC_000019.10:g.918639A>T	ExAC,TOPMed,gnomAD
rs190206409	p.Met114Ile	missense variant	-	NC_000019.10:g.918641G>A	1000Genomes
rs753075267	p.Met114Leu	missense variant	-	NC_000019.10:g.918639A>C	ExAC,TOPMed,gnomAD
rs925950470	p.Met114Lys	missense variant	-	NC_000019.10:g.918640T>A	TOPMed,gnomAD
rs1213743598	p.Cys115Tyr	missense variant	-	NC_000019.10:g.918643G>A	gnomAD
rs758697430	p.Lys116Thr	missense variant	-	NC_000019.10:g.918646A>C	ExAC,gnomAD
rs1432573797	p.Phe117Ser	missense variant	-	NC_000019.10:g.918649T>C	gnomAD
rs1356423815	p.Val118Leu	missense variant	-	NC_000019.10:g.918651G>C	gnomAD
rs1204049262	p.Ile121Leu	missense variant	-	NC_000019.10:g.918660A>C	TOPMed
rs377317166	p.Ile121Met	missense variant	-	NC_000019.10:g.918662C>G	ESP,TOPMed,gnomAD
rs902988855	p.Gln122His	missense variant	-	NC_000019.10:g.918665G>T	gnomAD
rs1486349191	p.Gln123Arg	missense variant	-	NC_000019.10:g.918667A>G	gnomAD
rs1476224653	p.Ser125Ala	missense variant	-	NC_000019.10:g.919493T>G	gnomAD
rs749123047	p.Ser125Leu	missense variant	-	NC_000019.10:g.919494C>T	ExAC,gnomAD
rs774170906	p.Val126Glu	missense variant	-	NC_000019.10:g.919497T>A	ExAC,gnomAD
rs768520956	p.Val126Met	missense variant	-	NC_000019.10:g.919496G>A	ExAC,TOPMed,gnomAD
rs1399993048	p.Gln127Pro	missense variant	-	NC_000019.10:g.919500A>C	gnomAD
rs1296885216	p.Gln127His	missense variant	-	NC_000019.10:g.919501G>C	TOPMed,gnomAD
rs761411233	p.Ala128Val	missense variant	-	NC_000019.10:g.919503C>T	ExAC,TOPMed
rs767193126	p.Cys130Phe	missense variant	-	NC_000019.10:g.919509G>T	ExAC,gnomAD
rs1048171903	p.Cys130Gly	missense variant	-	NC_000019.10:g.919508T>G	TOPMed
rs772656538	p.Ala131Val	missense variant	-	NC_000019.10:g.919512C>T	ExAC,gnomAD
rs147415270	p.Thr132Ile	missense variant	-	NC_000019.10:g.919515C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs867662591	p.Ala135Thr	missense variant	-	NC_000019.10:g.919523G>A	TOPMed,gnomAD
rs867662591	p.Ala135Ser	missense variant	-	NC_000019.10:g.919523G>T	TOPMed,gnomAD
rs1286141337	p.Met136Leu	missense variant	-	NC_000019.10:g.919526A>C	gnomAD
rs1215886844	p.Met136Ile	missense variant	-	NC_000019.10:g.919528G>C	TOPMed,gnomAD
rs1215886844	p.Met136Ile	missense variant	-	NC_000019.10:g.919528G>A	TOPMed,gnomAD
rs1286141337	p.Met136Val	missense variant	-	NC_000019.10:g.919526A>G	gnomAD
rs765739273	p.Met136Arg	missense variant	-	NC_000019.10:g.919527T>G	ExAC,TOPMed,gnomAD
rs1350373699	p.Ser137Gly	missense variant	-	NC_000019.10:g.919529A>G	TOPMed
rs779891326	p.Ser137Thr	missense variant	-	NC_000019.10:g.919530G>C	ExAC,TOPMed,gnomAD
rs140811887	p.Val138Leu	missense variant	-	NC_000019.10:g.919532G>C	ESP,ExAC,gnomAD
rs140811887	p.Val138Met	missense variant	-	NC_000019.10:g.919532G>A	ESP,ExAC,gnomAD
rs377563649	p.Arg140Cys	missense variant	-	NC_000019.10:g.919538C>T	TOPMed,gnomAD
rs757476059	p.Trp141Cys	missense variant	-	NC_000019.10:g.919543G>T	ExAC,TOPMed,gnomAD
rs751926094	p.Trp141Arg	missense variant	-	NC_000019.10:g.919541T>C	ExAC,gnomAD
rs781414080	p.Val145Ala	missense variant	-	NC_000019.10:g.919554T>C	ExAC,gnomAD
rs1409262159	p.Val145Met	missense variant	-	NC_000019.10:g.919553G>A	gnomAD
rs545635250	p.Pro147Gln	missense variant	-	NC_000019.10:g.919560C>A	1000Genomes,TOPMed,gnomAD
rs545635250	p.Pro147Leu	missense variant	-	NC_000019.10:g.919560C>T	1000Genomes,TOPMed,gnomAD
rs61735615	p.Pro147Ser	missense variant	-	NC_000019.10:g.919559C>T	ExAC,TOPMed,gnomAD
rs545635250	p.Pro147Arg	missense variant	-	NC_000019.10:g.919560C>G	1000Genomes,TOPMed,gnomAD
rs28939719	p.Leu148Ser	missense variant	-	NC_000019.10:g.919563T>C	gnomAD
rs28939719	p.Leu148Ser	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919563T>C	UniProt,dbSNP
VAR_021392	p.Leu148Ser	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919563T>C	UniProt
RCV000030878	p.Leu148Ser	missense variant	Hypogonadotropic hypogonadism 8 without anosmia	NC_000019.10:g.919563T>C	ClinVar
rs1339343212	p.Arg149Cys	missense variant	-	NC_000019.10:g.919565C>T	gnomAD
rs1445430129	p.Ala150Ser	missense variant	-	NC_000019.10:g.919568G>T	TOPMed,gnomAD
rs941656527	p.Leu151Val	missense variant	-	NC_000019.10:g.919571C>G	TOPMed
rs866811441	p.Arg154Pro	missense variant	-	NC_000019.10:g.919581G>C	gnomAD
rs866811441	p.Arg154His	missense variant	-	NC_000019.10:g.919581G>A	gnomAD
rs1239173061	p.Thr155Met	missense variant	-	NC_000019.10:g.919584C>T	gnomAD
rs1306745866	p.Pro156Ser	missense variant	-	NC_000019.10:g.919586C>T	gnomAD
rs1200941842	p.Arg157Leu	missense variant	-	NC_000019.10:g.919590G>T	gnomAD
rs868598262	p.Arg157Ser	missense variant	-	NC_000019.10:g.919589C>A	TOPMed,gnomAD
rs868598262	p.Arg157Cys	missense variant	-	NC_000019.10:g.919589C>T	TOPMed,gnomAD
rs780162417	p.Leu158Met	missense variant	-	NC_000019.10:g.919592C>A	ExAC,gnomAD
rs780162417	p.Leu158Val	missense variant	-	NC_000019.10:g.919592C>G	ExAC,gnomAD
RCV000591052	p.Leu158Val	missense variant	-	NC_000019.10:g.919592C>G	ClinVar
rs749285893	p.Ala159Glu	missense variant	-	NC_000019.10:g.919596C>A	ExAC,TOPMed,gnomAD
rs1206633378	p.Leu160Pro	missense variant	-	NC_000019.10:g.919599T>C	gnomAD
rs1239035102	p.Ala161Asp	missense variant	-	NC_000019.10:g.919602C>A	gnomAD
rs768682775	p.Val162Ile	missense variant	-	NC_000019.10:g.919604G>A	ExAC,gnomAD
rs1397241658	p.Leu164Ile	missense variant	-	NC_000019.10:g.919610C>A	gnomAD
rs1172486808	p.Ser165Gly	missense variant	-	NC_000019.10:g.919613A>G	gnomAD
rs1207191357	p.Ile166Thr	missense variant	-	NC_000019.10:g.919617T>C	TOPMed
rs1400947375	p.Trp167Ter	stop gained	-	NC_000019.10:g.919621G>A	gnomAD
rs1269168789	p.Trp167Arg	missense variant	-	NC_000019.10:g.919619T>C	TOPMed
rs564318120	p.Val168Ala	missense variant	-	NC_000019.10:g.919623T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs747963386	p.Val168Ile	missense variant	-	NC_000019.10:g.919622G>A	ExAC,TOPMed,gnomAD
rs767661561	p.Gly169Asp	missense variant	-	NC_000019.10:g.919874G>A	ExAC,gnomAD
rs750622030	p.Ser170Cys	missense variant	-	NC_000019.10:g.919877C>G	ExAC,gnomAD
rs1440702117	p.Ala172Val	missense variant	-	NC_000019.10:g.919883C>T	TOPMed,gnomAD
rs1477212929	p.Val173Met	missense variant	-	NC_000019.10:g.919885G>A	gnomAD
rs1458062652	p.Ala175Glu	missense variant	-	NC_000019.10:g.919892C>A	gnomAD
rs568809186	p.Pro176Leu	missense variant	-	NC_000019.10:g.919895C>T	1000Genomes,ExAC,gnomAD
rs1388286859	p.Pro176Thr	missense variant	-	NC_000019.10:g.919894C>A	gnomAD
rs1298723460	p.Leu178Ile	missense variant	-	NC_000019.10:g.919900C>A	gnomAD
rs1319615810	p.His181Asn	missense variant	-	NC_000019.10:g.919909C>A	TOPMed
rs1288874942	p.Arg182Leu	missense variant	-	NC_000019.10:g.919913G>T	TOPMed
rs754927934	p.Leu183Pro	missense variant	-	NC_000019.10:g.919916T>C	ExAC,TOPMed,gnomAD
rs754927934	p.Leu183Arg	missense variant	-	NC_000019.10:g.919916T>G	ExAC,TOPMed,gnomAD
rs1374096437	p.Pro185Ser	missense variant	-	NC_000019.10:g.919921C>T	gnomAD
rs1411745747	p.Pro185Leu	missense variant	-	NC_000019.10:g.919922C>T	gnomAD
rs1281550153	p.Gly186Glu	missense variant	-	NC_000019.10:g.919925G>A	gnomAD
rs1398241410	p.Gly186Arg	missense variant	-	NC_000019.10:g.919924G>C	TOPMed,gnomAD
rs1341328855	p.Pro187Leu	missense variant	-	NC_000019.10:g.919928C>T	gnomAD
rs1264103458	p.Arg188Cys	missense variant	-	NC_000019.10:g.919930C>T	gnomAD
rs73507527	p.Ala189Ser	missense variant	-	NC_000019.10:g.919933G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1217719689	p.Ala189Val	missense variant	-	NC_000019.10:g.919934C>T	gnomAD
rs73507527	p.Ala189Thr	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919933G>A	UniProt,dbSNP
VAR_069961	p.Ala189Thr	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919933G>A	UniProt
rs73507527	p.Ala189Thr	missense variant	-	NC_000019.10:g.919933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000224427	p.Ala189Thr	missense variant	-	NC_000019.10:g.919933G>A	ClinVar
rs771862860	p.Cys191Tyr	missense variant	-	NC_000019.10:g.919940G>A	ExAC,gnomAD
rs553809426	p.Ser192Gly	missense variant	-	NC_000019.10:g.919942A>G	1000Genomes,ExAC,gnomAD
RCV000658095	p.Ser192Gly	missense variant	-	NC_000019.10:g.919942A>G	ClinVar
rs966786206	p.Glu193Gly	missense variant	-	NC_000019.10:g.919946A>G	TOPMed,gnomAD
rs397514699	p.Ala194Val	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (hh8)	NC_000019.10:g.919949C>T	ExAC,TOPMed,gnomAD
rs397514699	p.Ala194Asp	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (hh8)	NC_000019.10:g.919949C>A	ExAC,TOPMed,gnomAD
rs397514699	p.Ala194Asp	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919949C>A	UniProt,dbSNP
VAR_069962	p.Ala194Asp	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919949C>A	UniProt
RCV000043601	p.Ala194Asp	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919949C>A	ClinVar
rs776194205	p.Phe195Cys	missense variant	-	NC_000019.10:g.919952T>G	ExAC,gnomAD
rs572007403	p.Pro196His	missense variant	-	NC_000019.10:g.919955C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1182036978	p.Ser197Gly	missense variant	-	NC_000019.10:g.919957A>G	TOPMed
rs769043782	p.Ser197Ile	missense variant	-	NC_000019.10:g.919958G>T	ExAC,TOPMed,gnomAD
rs769043782	p.Ser197Thr	missense variant	-	NC_000019.10:g.919958G>C	ExAC,TOPMed,gnomAD
rs1359850429	p.Ser197Arg	missense variant	-	NC_000019.10:g.919959C>A	gnomAD
rs1250724214	p.Arg198Gly	missense variant	-	NC_000019.10:g.919960C>G	TOPMed,gnomAD
rs1250724214	p.Arg198Ser	missense variant	-	NC_000019.10:g.919960C>A	TOPMed,gnomAD
rs774878942	p.Ala199Ser	missense variant	-	NC_000019.10:g.919963G>T	ExAC,gnomAD
rs944504478	p.Leu200Val	missense variant	-	NC_000019.10:g.919966C>G	TOPMed,gnomAD
rs762103898	p.Glu201Gln	missense variant	-	NC_000019.10:g.919969G>C	ExAC,gnomAD
rs1310850583	p.Arg202Cys	missense variant	-	NC_000019.10:g.919972C>T	gnomAD
rs767972292	p.Ala203Asp	missense variant	-	NC_000019.10:g.919976C>A	ExAC,gnomAD
rs960767846	p.Ala205Thr	missense variant	-	NC_000019.10:g.919981G>A	gnomAD
rs1213613683	p.Tyr207His	missense variant	-	NC_000019.10:g.919987T>C	TOPMed,gnomAD
rs970373223	p.Asn208Ser	missense variant	-	NC_000019.10:g.919991A>G	TOPMed
rs761043800	p.Leu210Pro	missense variant	-	NC_000019.10:g.919997T>C	ExAC,gnomAD
rs766694658	p.Ala211Thr	missense variant	-	NC_000019.10:g.919999G>A	ExAC,TOPMed,gnomAD
rs1253663262	p.Leu212Val	missense variant	-	NC_000019.10:g.920002C>G	gnomAD
rs1179059532	p.Leu215Arg	missense variant	-	NC_000019.10:g.920012T>G	gnomAD
rs1443420206	p.Pro216Ser	missense variant	-	NC_000019.10:g.920014C>T	TOPMed
rs753980643	p.Leu218Pro	missense variant	-	NC_000019.10:g.920021T>C	ExAC,gnomAD
rs1378066110	p.Cys223Tyr	missense variant	-	NC_000019.10:g.920036G>A	gnomAD
VAR_021393	p.Cys223Arg	Missense	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]	-	UniProt
rs1158968688	p.Ala225Thr	missense variant	-	NC_000019.10:g.920041G>A	TOPMed
rs1402768002	p.Ala225Val	missense variant	-	NC_000019.10:g.920042C>T	gnomAD
rs1447752491	p.Met227Ile	missense variant	-	NC_000019.10:g.920049G>A	gnomAD
rs755018926	p.Arg229His	missense variant	-	NC_000019.10:g.920054G>A	ExAC,TOPMed,gnomAD
rs755018926	p.Arg229Leu	missense variant	-	NC_000019.10:g.920054G>T	ExAC,TOPMed,gnomAD
rs1266094276	p.His230Tyr	missense variant	-	NC_000019.10:g.920056C>T	TOPMed
rs1054311830	p.Leu231Val	missense variant	-	NC_000019.10:g.920059C>G	TOPMed
rs1245947219	p.Gly232Ala	missense variant	-	NC_000019.10:g.920063G>C	TOPMed
rs1312068530	p.Val234Ala	missense variant	-	NC_000019.10:g.920069T>C	gnomAD
rs1431691251	p.Ala235Thr	missense variant	-	NC_000019.10:g.920071G>A	TOPMed,gnomAD
rs576165678	p.Val236Leu	missense variant	-	NC_000019.10:g.920074G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1311637711	p.Val236Ala	missense variant	-	NC_000019.10:g.920075T>C	TOPMed
rs576165678	p.Val236Met	missense variant	-	NC_000019.10:g.920074G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs576165678	p.Val236Leu	missense variant	-	NC_000019.10:g.920074G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1302076437	p.Arg237His	missense variant	-	NC_000019.10:g.920078G>A	TOPMed
rs922334214	p.Pro238Ala	missense variant	-	NC_000019.10:g.920080C>G	TOPMed,gnomAD
rs922334214	p.Pro238Ser	missense variant	-	NC_000019.10:g.920080C>T	TOPMed,gnomAD
rs1320272910	p.Pro240Ala	missense variant	-	NC_000019.10:g.920086C>G	TOPMed
rs1237403583	p.Ala241Thr	missense variant	-	NC_000019.10:g.920089G>A	gnomAD
rs1301565926	p.Asp242His	missense variant	-	NC_000019.10:g.920092G>C	TOPMed
rs1405831312	p.Ser243Gly	missense variant	-	NC_000019.10:g.920095A>G	gnomAD
rs1439741420	p.Gly247Arg	missense variant	-	NC_000019.10:g.920290G>C	TOPMed
rs765408704	p.Gly247Glu	missense variant	-	NC_000019.10:g.920291G>A	ExAC,TOPMed,gnomAD
rs1209490485	p.Val249Met	missense variant	-	NC_000019.10:g.920296G>A	TOPMed
rs752689988	p.Leu250Pro	missense variant	-	NC_000019.10:g.920300T>C	ExAC,TOPMed,gnomAD
rs1359480512	p.Ala251Glu	missense variant	-	NC_000019.10:g.920303C>A	gnomAD
rs1229652300	p.Glu252Gln	missense variant	-	NC_000019.10:g.920305G>C	gnomAD
rs1290398516	p.Glu252Asp	missense variant	-	NC_000019.10:g.920307G>T	gnomAD
rs1320882091	p.Arg253Ser	missense variant	-	NC_000019.10:g.920308C>A	gnomAD
rs1288090133	p.Ala254Ser	missense variant	-	NC_000019.10:g.920311G>T	gnomAD
rs1261086848	p.Ala256Pro	missense variant	-	NC_000019.10:g.920317G>C	gnomAD
rs751356907	p.Ala256Gly	missense variant	-	NC_000019.10:g.920318C>G	ExAC,TOPMed,gnomAD
rs1413609469	p.Val257Met	missense variant	-	NC_000019.10:g.920320G>A	TOPMed,gnomAD
rs1413609469	p.Val257Leu	missense variant	-	NC_000019.10:g.920320G>T	TOPMed,gnomAD
rs757001659	p.Arg258Trp	missense variant	-	NC_000019.10:g.920323C>T	ExAC,TOPMed,gnomAD
rs1361769941	p.Arg258Gln	missense variant	-	NC_000019.10:g.920324G>A	gnomAD
rs1297095423	p.Lys260Arg	missense variant	-	NC_000019.10:g.920330A>G	gnomAD
rs745580229	p.Ser262Leu	missense variant	-	NC_000019.10:g.920336C>T	ExAC,gnomAD
rs745580229	p.Ser262Leu	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.920336C>T	UniProt,dbSNP
VAR_072975	p.Ser262Leu	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.920336C>T	UniProt
rs1337041533	p.Arg263Trp	missense variant	-	NC_000019.10:g.920338C>T	TOPMed
rs1284425091	p.Val265Met	missense variant	-	NC_000019.10:g.920344G>A	TOPMed,gnomAD
rs1033347690	p.Val265Gly	missense variant	-	NC_000019.10:g.920345T>G	gnomAD
rs1343670176	p.Val268Glu	missense variant	-	NC_000019.10:g.920354T>A	gnomAD
rs748734882	p.Ala273Ser	missense variant	-	NC_000019.10:g.920368G>T	ExAC,TOPMed,gnomAD
rs748734882	p.Ala273Thr	missense variant	-	NC_000019.10:g.920368G>A	ExAC,TOPMed,gnomAD
rs1411197106	p.Ala273Gly	missense variant	-	NC_000019.10:g.920369C>G	TOPMed
rs1444197842	p.Ala274Asp	missense variant	-	NC_000019.10:g.920372C>A	gnomAD
rs773788662	p.Cys275Gly	missense variant	-	NC_000019.10:g.920374T>G	ExAC,gnomAD
rs1269448845	p.Cys275Ser	missense variant	-	NC_000019.10:g.920375G>C	gnomAD
rs747410877	p.Trp276Cys	missense variant	-	NC_000019.10:g.920379G>T	ExAC,gnomAD
rs1180943168	p.Gly277Ser	missense variant	-	NC_000019.10:g.920380G>A	TOPMed,gnomAD
rs1381285451	p.Gly277Val	missense variant	-	NC_000019.10:g.920381G>T	gnomAD
rs777116001	p.Pro278Ser	missense variant	-	NC_000019.10:g.920383C>T	ExAC,TOPMed,gnomAD
rs149439633	p.Leu281Met	missense variant	-	NC_000019.10:g.920392C>A	1000Genomes,TOPMed
rs759844858	p.Leu283Pro	missense variant	-	NC_000019.10:g.920399T>C	ExAC,gnomAD
rs775701047	p.Gln286Ter	stop gained	-	NC_000019.10:g.920407C>T	ExAC,gnomAD
rs1377350696	p.Leu288Val	missense variant	-	NC_000019.10:g.920413C>G	gnomAD
rs762888590	p.Pro290Ser	missense variant	-	NC_000019.10:g.920419C>T	ExAC,TOPMed,gnomAD
rs762888590	p.Pro290Ala	missense variant	-	NC_000019.10:g.920419C>G	ExAC,TOPMed,gnomAD
rs751445161	p.Ala291Val	missense variant	-	NC_000019.10:g.920423C>T	ExAC,gnomAD
rs910854883	p.Ala291Thr	missense variant	-	NC_000019.10:g.920422G>A	TOPMed,gnomAD
rs757161059	p.Gly292Asp	missense variant	-	NC_000019.10:g.920426G>A	ExAC,TOPMed,gnomAD
rs375252773	p.Ser293Ala	missense variant	-	NC_000019.10:g.920428T>G	ESP,ExAC,TOPMed,gnomAD
rs371344839	p.His295Tyr	missense variant	-	NC_000019.10:g.920434C>T	ExAC,TOPMed,gnomAD
rs1180030167	p.Pro296Thr	missense variant	-	NC_000019.10:g.920437C>A	TOPMed,gnomAD
rs1046021515	p.Arg297Gly	missense variant	-	NC_000019.10:g.920440C>G	TOPMed,gnomAD
rs144670595	p.Arg297Leu	missense variant	-	NC_000019.10:g.920441G>T	ESP,ExAC,TOPMed,gnomAD
rs144670595	p.Arg297Leu	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.920441G>T	UniProt,dbSNP
VAR_021394	p.Arg297Leu	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.920441G>T	UniProt
RCV000342759	p.Arg297Leu	missense variant	-	NC_000019.10:g.920441G>T	ClinVar
rs1046021515	p.Arg297Cys	missense variant	-	NC_000019.10:g.920440C>T	TOPMed,gnomAD
RCV000845180	p.Arg297Leu	missense variant	-	NC_000019.10:g.920441G>T	ClinVar
rs1172701061	p.Ser298Cys	missense variant	-	NC_000019.10:g.920443A>T	gnomAD
rs1423832405	p.Tyr299His	missense variant	-	NC_000019.10:g.920446T>C	gnomAD
rs754498103	p.Ala300Val	missense variant	-	NC_000019.10:g.920450C>T	ExAC,TOPMed,gnomAD
rs748834443	p.Ala300Thr	missense variant	-	NC_000019.10:g.920449G>A	ExAC,TOPMed,gnomAD
rs754498103	p.Ala300Asp	missense variant	-	NC_000019.10:g.920450C>A	ExAC,TOPMed,gnomAD
rs747568732	p.Tyr302His	missense variant	-	NC_000019.10:g.920455T>C	ExAC,TOPMed,gnomAD
rs771534661	p.Tyr302Ter	stop gained	-	NC_000019.10:g.920457C>A	ExAC,TOPMed,gnomAD
rs1186935206	p.Tyr302Cys	missense variant	-	NC_000019.10:g.920456A>G	TOPMed
rs1218492534	p.Ala303Thr	missense variant	-	NC_000019.10:g.920458G>A	TOPMed
NCI-TCGA novel	p.Trp307Arg	missense variant	-	NC_000019.10:g.920470T>C	NCI-TCGA
rs1274395410	p.Trp307Cys	missense variant	-	NC_000019.10:g.920472G>T	TOPMed,gnomAD
rs1274395410	p.Trp307Ter	stop gained	-	NC_000019.10:g.920472G>A	TOPMed,gnomAD
rs746208864	p.Ala308Val	missense variant	-	NC_000019.10:g.920474C>T	ExAC,TOPMed,gnomAD
rs770072521	p.Met311Leu	missense variant	-	NC_000019.10:g.920482A>C	ExAC,gnomAD
rs184056969	p.Met311Ile	missense variant	-	NC_000019.10:g.920484G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1317466053	p.Ser312Pro	missense variant	-	NC_000019.10:g.920485T>C	TOPMed,gnomAD
rs587777844	p.Tyr313His	missense variant	-	NC_000019.10:g.920488T>C	ExAC,TOPMed,gnomAD
RCV000144561	p.Tyr313His	missense variant	Hypogonadotropic hypogonadism 8 without anosmia	NC_000019.10:g.920488T>C	ClinVar
rs1292437651	p.Ser314Gly	missense variant	-	NC_000019.10:g.920491A>G	gnomAD
rs768769129	p.Ser314Asn	missense variant	-	NC_000019.10:g.920492G>A	ExAC,gnomAD
rs531922726	p.Asn315Asp	missense variant	-	NC_000019.10:g.920494A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs531922726	p.Asn315His	missense variant	-	NC_000019.10:g.920494A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs761804333	p.Pro320Thr	missense variant	-	NC_000019.10:g.920509C>A	ExAC,TOPMed,gnomAD
rs767427190	p.Leu321Pro	missense variant	-	NC_000019.10:g.920513T>C	ExAC,gnomAD
rs775830195	p.Tyr323Ter	stop gained	-	NC_000019.10:g.920520C>A	ExAC,TOPMed,gnomAD
rs1312319630	p.Tyr323Phe	missense variant	-	NC_000019.10:g.920519A>T	TOPMed
rs753384689	p.Ala324Thr	missense variant	-	NC_000019.10:g.920521G>A	ExAC,TOPMed,gnomAD
rs1343499661	p.Gly327Asp	missense variant	-	NC_000019.10:g.920531G>A	gnomAD
rs754657430	p.Ser328Ter	stop gained	-	NC_000019.10:g.920534C>A	ExAC,TOPMed,gnomAD
rs754657430	p.Ser328Trp	missense variant	-	NC_000019.10:g.920534C>G	ExAC,TOPMed,gnomAD
rs752253847	p.Phe330Ser	missense variant	-	NC_000019.10:g.920540T>C	ExAC,gnomAD
rs757899647	p.Phe330Leu	missense variant	-	NC_000019.10:g.920541C>G	ExAC,gnomAD
rs781496985	p.Arg331Pro	missense variant	-	NC_000019.10:g.920543G>C	ExAC,gnomAD
RCV000030879	p.Arg331Ter	nonsense	Hypogonadotropic hypogonadism 8 without anosmia	NC_000019.10:g.920542C>T	ClinVar
rs781496985	p.Arg331Leu	missense variant	-	NC_000019.10:g.920543G>T	ExAC,gnomAD
rs781496985	p.Arg331Gln	missense variant	-	NC_000019.10:g.920543G>A	ExAC,gnomAD
rs104894701	p.Arg331Ter	stop gained	-	NC_000019.10:g.920542C>T	-
rs746252619	p.Ala333Thr	missense variant	-	NC_000019.10:g.920548G>A	ExAC,gnomAD
rs535137119	p.Ala333Val	missense variant	-	NC_000019.10:g.920549C>T	ExAC,gnomAD
rs780439817	p.Phe334Leu	missense variant	-	NC_000019.10:g.920551T>C	ExAC,gnomAD
rs749548787	p.Arg335Cys	missense variant	-	NC_000019.10:g.920554C>T	ExAC,TOPMed,gnomAD
rs1190567950	p.Arg336Cys	missense variant	-	NC_000019.10:g.920557C>T	gnomAD
rs1473135430	p.Arg336Pro	missense variant	-	NC_000019.10:g.920558G>C	TOPMed,gnomAD
rs1473009676	p.Cys338Ter	stop gained	-	NC_000019.10:g.920565C>A	TOPMed,gnomAD
rs1363666556	p.Pro339Arg	missense variant	-	NC_000019.10:g.920567C>G	TOPMed,gnomAD
rs1162638135	p.Pro339Ser	missense variant	-	NC_000019.10:g.920566C>T	gnomAD
rs1363666556	p.Pro339Leu	missense variant	-	NC_000019.10:g.920567C>T	TOPMed,gnomAD
rs1162638135	p.Pro339Thr	missense variant	-	NC_000019.10:g.920566C>A	gnomAD
rs1298938090	p.Cys340Ser	missense variant	-	NC_000019.10:g.920570G>C	TOPMed,gnomAD
rs1359970137	p.Cys340Ter	stop gained	-	NC_000019.10:g.920571C>A	gnomAD
rs1380813369	p.Ala341Pro	missense variant	-	NC_000019.10:g.920572G>C	gnomAD
NCI-TCGA novel	p.Pro342Leu	missense variant	-	NC_000019.10:g.920576C>T	NCI-TCGA
rs1441750130	p.Arg343Leu	missense variant	-	NC_000019.10:g.920579G>T	TOPMed
rs1441750130	p.Arg343His	missense variant	-	NC_000019.10:g.920579G>A	TOPMed
rs1172967650	p.Arg344Ser	missense variant	-	NC_000019.10:g.920581C>A	TOPMed
rs1244545980	p.Arg346His	missense variant	-	NC_000019.10:g.920588G>A	gnomAD
rs768858861	p.Arg346Cys	missense variant	-	NC_000019.10:g.920587C>T	ExAC,gnomAD
rs761822644	p.Arg347His	missense variant	-	NC_000019.10:g.920591G>A	ExAC,TOPMed,gnomAD
rs1313324502	p.Arg347Ser	missense variant	-	NC_000019.10:g.920590C>A	gnomAD
rs1008480594	p.Arg349Leu	missense variant	-	NC_000019.10:g.920597G>T	TOPMed,gnomAD
rs1008480594	p.Arg349His	missense variant	-	NC_000019.10:g.920597G>A	TOPMed,gnomAD
rs1008480594	p.Arg349Pro	missense variant	-	NC_000019.10:g.920597G>C	TOPMed,gnomAD
rs772983011	p.Arg350Gln	missense variant	-	NC_000019.10:g.920600G>A	ExAC
rs772983011	p.Arg350Leu	missense variant	-	NC_000019.10:g.920600G>T	ExAC
rs753639593	p.Pro351Arg	missense variant	-	NC_000019.10:g.920603C>G	ExAC,TOPMed
rs1485261639	p.Pro353Leu	missense variant	-	NC_000019.10:g.920609C>T	TOPMed,gnomAD
rs961267673	p.Ser354Leu	missense variant	-	NC_000019.10:g.920612C>T	TOPMed,gnomAD
rs961267673	p.Ser354Trp	missense variant	-	NC_000019.10:g.920612C>G	TOPMed,gnomAD
rs1257857042	p.Pro356Ala	missense variant	-	NC_000019.10:g.920617C>G	gnomAD
rs1442598107	p.Pro356Leu	missense variant	-	NC_000019.10:g.920618C>T	gnomAD
rs1383134891	p.Ala357Thr	missense variant	-	NC_000019.10:g.920620G>A	gnomAD
rs1441535406	p.Ala357Val	missense variant	-	NC_000019.10:g.920621C>T	TOPMed,gnomAD
rs550442340	p.Ala358Val	missense variant	-	NC_000019.10:g.920624C>T	1000Genomes,TOPMed,gnomAD
rs550442340	p.Ala358Asp	missense variant	-	NC_000019.10:g.920624C>A	1000Genomes,TOPMed,gnomAD
rs1029869794	p.Pro359Ser	missense variant	-	NC_000019.10:g.920626C>T	gnomAD
rs1285484939	p.His360Leu	missense variant	-	NC_000019.10:g.920630A>T	gnomAD
rs1032492440	p.His360Gln	missense variant	-	NC_000019.10:g.920631C>A	TOPMed,gnomAD
rs1451740337	p.His360Asp	missense variant	-	NC_000019.10:g.920629C>G	gnomAD
rs759331585	p.Ala361Ser	missense variant	-	NC_000019.10:g.920632G>T	ExAC,gnomAD
rs764972470	p.Ala361Glu	missense variant	-	NC_000019.10:g.920633C>A	ExAC,gnomAD
rs759331585	p.Ala361Thr	missense variant	-	NC_000019.10:g.920632G>A	ExAC,gnomAD
rs757919641	p.Glu362Ter	stop gained	-	NC_000019.10:g.920635G>T	ExAC
rs1379566137	p.Glu362Gly	missense variant	-	NC_000019.10:g.920636A>G	gnomAD
rs350132	p.Leu364His	missense variant	-	NC_000019.10:g.920642T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs350132	p.Leu364His	missense variant	-	NC_000019.10:g.920642T>A	UniProt,dbSNP
VAR_021395	p.Leu364His	missense variant	-	NC_000019.10:g.920642T>A	UniProt
rs350132	p.Leu364Pro	missense variant	-	NC_000019.10:g.920642T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1309187661	p.Leu364Ile	missense variant	-	NC_000019.10:g.920641C>A	gnomAD
RCV000517624	p.Leu364His	missense variant	-	NC_000019.10:g.920642T>A	ClinVar
rs1236288250	p.Arg365Gly	missense variant	-	NC_000019.10:g.920644C>G	TOPMed,gnomAD
rs1236288250	p.Arg365Ser	missense variant	-	NC_000019.10:g.920644C>A	TOPMed,gnomAD
rs1257210115	p.Arg365His	missense variant	-	NC_000019.10:g.920645G>A	TOPMed,gnomAD
rs1236288250	p.Arg365Cys	missense variant	-	NC_000019.10:g.920644C>T	TOPMed,gnomAD
rs1345336191	p.Leu366Met	missense variant	-	NC_000019.10:g.920647C>A	gnomAD
rs1268401717	p.Gly367Arg	missense variant	-	NC_000019.10:g.920650G>C	gnomAD
rs756610568	p.Ser368Phe	missense variant	-	NC_000019.10:g.920654C>T	ExAC,TOPMed,gnomAD
rs910960357	p.His369Tyr	missense variant	-	NC_000019.10:g.920656C>T	gnomAD
rs948358007	p.His369Gln	missense variant	-	NC_000019.10:g.920658C>G	TOPMed,gnomAD
rs946389146	p.Pro370Gln	missense variant	-	NC_000019.10:g.920660C>A	gnomAD
rs946389146	p.Pro370Leu	missense variant	-	NC_000019.10:g.920660C>T	gnomAD
rs979090715	p.Ala371Thr	missense variant	-	NC_000019.10:g.920662G>A	TOPMed,gnomAD
rs924223910	p.Ala371Val	missense variant	-	NC_000019.10:g.920663C>T	gnomAD
rs924223910	p.Ala371Asp	missense variant	-	NC_000019.10:g.920663C>A	gnomAD
rs979090715	p.Ala371Pro	missense variant	-	NC_000019.10:g.920662G>C	TOPMed,gnomAD
rs1174551245	p.Pro372Thr	missense variant	-	NC_000019.10:g.920665C>A	gnomAD
rs1466488200	p.Ala373Thr	missense variant	-	NC_000019.10:g.920668G>A	gnomAD
rs780347102	p.Ala373Val	missense variant	-	NC_000019.10:g.920669C>T	ExAC,gnomAD
rs749638365	p.Ala375Val	missense variant	-	NC_000019.10:g.920675C>T	ExAC,TOPMed,gnomAD
rs749638365	p.Ala375Glu	missense variant	-	NC_000019.10:g.920675C>A	ExAC,TOPMed,gnomAD
rs576107921	p.Pro378Leu	missense variant	-	NC_000019.10:g.920684C>T	ExAC,TOPMed,gnomAD
rs1302851709	p.Ser380Gly	missense variant	-	NC_000019.10:g.920689A>G	gnomAD
rs779039173	p.Leu383Pro	missense variant	-	NC_000019.10:g.920699T>C	ExAC,gnomAD
rs748258240	p.Ala385Pro	missense variant	-	NC_000019.10:g.920704G>C	ExAC,gnomAD
rs121908499	p.Arg386Pro	missense variant	Precocious puberty, central 1 (CPPB1)	NC_000019.10:g.920708G>C	UniProt,dbSNP
VAR_043907	p.Arg386Pro	missense variant	Precocious puberty, central 1 (CPPB1)	NC_000019.10:g.920708G>C	UniProt
rs121908499	p.Arg386Pro	missense variant	-	NC_000019.10:g.920708G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1217678018	p.Arg386Cys	missense variant	-	NC_000019.10:g.920707C>T	TOPMed
RCV000489218	p.Arg386Pro	missense variant	-	NC_000019.10:g.920708G>C	ClinVar
rs565693558	p.Gly387Arg	missense variant	-	NC_000019.10:g.920710G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1443633330	p.Gly387Glu	missense variant	-	NC_000019.10:g.920711G>A	TOPMed
rs565693558	p.Gly387Arg	missense variant	-	NC_000019.10:g.920710G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs770898408	p.Leu388Met	missense variant	-	NC_000019.10:g.920713C>A	ExAC,gnomAD
rs371771794	p.Cys389Trp	missense variant	-	NC_000019.10:g.920718C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1267889330	p.Cys389Tyr	missense variant	-	NC_000019.10:g.920717G>A	gnomAD
RCV000499713	p.Cys389Ter	nonsense	-	NC_000019.10:g.920718C>A	ClinVar
rs371771794	p.Cys389Ter	stop gained	-	NC_000019.10:g.920718C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1414482292	p.Val390Ile	missense variant	-	NC_000019.10:g.920719G>A	gnomAD
rs868227115	p.Glu393Gly	missense variant	-	NC_000019.10:g.920729A>G	gnomAD
rs557819500	p.Ala396Thr	missense variant	-	NC_000019.10:g.920737G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762640475	p.Pro397Ser	missense variant	-	NC_000019.10:g.920740C>T	ExAC,TOPMed,gnomAD
rs762640475	p.Pro397Ala	missense variant	-	NC_000019.10:g.920740C>G	ExAC,TOPMed,gnomAD
RCV000030880	p.Ter399Arg	stop lost	Hypogonadotropic hypogonadism 8 without anosmia	NC_000019.10:g.920746T>A	ClinVar
rs104894702	p.Ter399Arg	stop lost	-	NC_000019.10:g.920746T>C	ExAC,TOPMed,gnomAD
rs104894702	p.Ter399Arg	stop lost	-	NC_000019.10:g.920746T>A	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001430	Adenoma	group	BEFREE
C0003126	Anosmia	phenotype	HPO
C0003128	Anovulation	phenotype	BEFREE
C0003467	Anxiety	disease	HPO
C0003850	Arteriosclerosis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0004509	Azoospermia	disease	HPO
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	LHGDN
C0007138	Carcinoma, Transitional Cell	disease	BEFREE
C0008497	Choriocarcinoma	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010417	Cryptorchidism	disease	HPO
C0011581	Depressive disorder	disease	HPO
C0013338	Pituitary dwarfism	disease	MGD
C0013537	Eclampsia	disease	BEFREE
C0018418	Gynecomastia	disease	HPO
C0020217	Hydatidiform Mole	disease	BEFREE
C0020619	Hypogonadism	disease	BEFREE;LHGDN
C0020635	Hypopituitarism	disease	MGD
C0022735	Klinefelter Syndrome	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	CTD_human
C0025202	melanoma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE;LHGDN
C0028754	Obesity	disease	BEFREE
C0029453	Osteopenia	disease	HPO
C0029456	Osteoporosis	disease	HPO
C0032000	Pituitary Adenoma	disease	BEFREE
C0032002	Pituitary Diseases	group	BEFREE
C0032019	Pituitary Neoplasms	group	BEFREE
C0034012	Delayed Puberty	phenotype	CTD_human;HPO
C0034013	Precocious Puberty	disease	BEFREE;LHGDN
C0036220	Kaposi Sarcoma	disease	BEFREE
C0038356	Stomach Neoplasms	group	CTD_human
C0040136	Thyroid Neoplasm	disease	BEFREE
C0151721	Testicular hypogonadism	disease	HPO
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0162809	Kallmann Syndrome	disease	BEFREE;MGD;ORPHANET
C0178874	Tumor Progression	phenotype	BEFREE
C0205770	Choroid Plexus Papilloma	disease	BEFREE
C0221405	Pituitary cachexia	disease	MGD
C0232939	Primary physiologic amenorrhea	disease	HPO
C0232940	Secondary physiologic amenorrhea	disease	HPO
C0233949	Sexual nondevelopment	disease	BEFREE
C0241355	Small testicle	phenotype	HPO
C0242342	Sheehan Syndrome	disease	MGD
C0242343	Panhypopituitarism	disease	MGD
C0242350	Erectile dysfunction	disease	HPO
C0266013	Congenital hypoplasia of breast	disease	HPO
C0266399	Infantile uterus	disease	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0271528	Isosexual precocious puberty	disease	HPO
C0271577	Isolated gonadotropin deficiency	disease	MGD
C0271578	Female hypogonadism syndrome	disease	HPO
C0271582	Isolated lutropin deficiency (disorder)	disease	MGD
C0271623	Hypogonadotropic hypogonadism	disease	BEFREE;HPO;MGD
C0271650	Impaired glucose tolerance	phenotype	BEFREE
C0278987	Non-small cell lung cancer metastatic	disease	BEFREE
C0342381	Idiopathic growth hormone deficiency	disease	MGD
C0342384	Idiopathic hypogonadotropic hypogonadism	disease	BEFREE;GENOMICS_ENGLAND
C0342543	Central Precocious Puberty	disease	BEFREE;CLINVAR;CTD_human
C0342544	Idiopathic central precocious puberty	disease	BEFREE;ORPHANET
C0349588	Short stature	phenotype	HPO
C0476089	Endometrial Carcinoma	disease	BEFREE
C0520927	Decreased fertility	phenotype	HPO
C0541764	Delayed bone age	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0685840	Congenital hypoplasia of ovary	disease	HPO
C0699790	Colon Carcinoma	disease	BEFREE
C0747078	Generalized osteopenia	disease	HPO
C1458155	Mammary Neoplasms	group	BEFREE
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1708349	Hereditary Diffuse Gastric Cancer	disease	CTD_human
C1827524	Wide spaced nipples	phenotype	HPO
C1835452	Hypoplastic ovary	phenotype	HPO
C1846228	Absence of pubertal development	phenotype	HPO
C1860121	Decreased testosterone in males	phenotype	HPO
C1862863	Sparse body hair	phenotype	HPO
C1883486	Uterine Corpus Cancer	disease	BEFREE
C2145472	Urothelial Carcinoma	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2364082	Sense of smell impaired	phenotype	HPO
C2674432	Reduced bone mineral density	phenotype	HPO
C2874188	Isolated deficiency of pituitary hormone	disease	MGD
C2874189	Necrosis of pituitary gland (postpartum)	phenotype	MGD
C2874190	Pituitary short stature	disease	MGD
C2874202	Constitutional delay of puberty	disease	BEFREE
C3489396	Hypogonadism, Isolated Hypogonadotropic	disease	BEFREE;HPO
C3553841	HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA	disease	CLINVAR;CTD_human;MGD;UNIPROT
C3805879	PRECOCIOUS PUBERTY, CENTRAL, 1	disease	UNIPROT
C3899503	Congenital hypogonadotropic hypogonadism	disease	BEFREE
C4016875	HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA	phenotype	CLINVAR
C4020884	Anxiety disease	disease	HPO
C4021107	Non-obstructive azoospermia	disease	HPO
C4021550	Elevated circulating follicle stimulating hormone level	phenotype	HPO
C4021551	Absence of secondary sex characteristics	phenotype	HPO
C4021776	Abnormality of the voice	phenotype	HPO
C4022003	Erectile abnormalities	phenotype	HPO
C4022675	Increased female libido	phenotype	HPO
C4023101	Elevated circulating luteinizing hormone level	phenotype	HPO
C4025569	Eunuchoid habitus	phenotype	HPO
C4025644	Hypothalamic gonadotropin-releasing hormone deficiency	phenotype	HPO
C4025821	Anterior hypopituitarism	disease	HPO
C4025901	Abnormality of body height	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0008188	neuropeptide receptor activity	IDA
GO:0008528	G protein-coupled peptide receptor activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007186	G protein-coupled receptor signaling pathway	NAS
GO:0007186	G protein-coupled receptor signaling pathway	TAS
GO:0007218	neuropeptide signaling pathway	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	IBA
GO:0005929	cilium	IDA
GO:0009986	cell surface	IEA
GO:0016021	integral component of membrane	IDA
GO:0043231	intracellular membrane-bounded organelle	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-372790	Signaling by GPCR	TAS
R-HSA-373076	Class A/1 (Rhodopsin-like receptors)	TAS
R-HSA-375276	Peptide ligand-binding receptors	TAS
R-HSA-388396	GPCR downstream signalling	TAS
R-HSA-416476	G alpha (q) signalling events	TAS
R-HSA-500792	GPCR ligand binding	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of KISS1R mRNA	21277884
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of KISS1R mRNA	21277884
C538758	2-aminoethyl diphenylborinate	2-aminoethyl diphenylborinate inhibits the reaction [[KISS1 protein results in increased activity of KISS1R protein] which results in increased abundance of Calcium]	18948403
C538758	2-aminoethyl diphenylborinate	Tetrodotoxin promotes the reaction [2-aminoethyl diphenylborinate inhibits the reaction [[KISS1 protein results in increased activity of KISS1R protein] which results in increased abundance of Calcium]]	18948403
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KISS1R mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KISS1R mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KISS1R mRNA	27188386
D000638	Amiodarone	Amiodarone inhibits the reaction [bis(4-hydroxyphenyl)sulfone results in increased expression of KISS1R mRNA]	26653335
D000638	Amiodarone	Amiodarone inhibits the reaction [bisphenol A results in increased expression of KISS1R mRNA]	26653335
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of KISS1R mRNA	16483693
D001280	Atrazine	Atrazine results in increased expression of KISS1R mRNA	27495953
C543008	bis(4-hydroxyphenyl)sulfone	Amiodarone inhibits the reaction [bis(4-hydroxyphenyl)sulfone results in increased expression of KISS1R mRNA]	26653335
C543008	bis(4-hydroxyphenyl)sulfone	Fadrozole inhibits the reaction [bis(4-hydroxyphenyl)sulfone results in increased expression of KISS1R mRNA]	26653335
C006780	bisphenol A	Amiodarone inhibits the reaction [bisphenol A results in increased expression of KISS1R mRNA]	26653335
C006780	bisphenol A	bisphenol A results in increased expression of KISS1R mRNA	26653335
C006780	bisphenol A	bisphenol A results in decreased expression of KISS1R mRNA	27641926
C006780	bisphenol A	KISS1R protein promotes the reaction [bisphenol A results in increased expression of GNRH1 mRNA]	24532816
C006780	bisphenol A	KISS1R protein promotes the reaction [bisphenol A results in increased expression of LHB mRNA]	24532816
C006780	bisphenol A	bisphenol A results in decreased expression of KISS1R mRNA	25181051
D002104	Cadmium	Cadmium results in increased expression of KISS1R mRNA	24376830
D002118	Calcium	2-aminoethyl diphenylborinate inhibits the reaction [[KISS1 protein results in increased activity of KISS1R protein] which results in increased abundance of Calcium]	18948403
D002118	Calcium	Flufenamic Acid inhibits the reaction [[KISS1 protein results in increased activity of KISS1R protein] which results in increased abundance of Calcium]	18948403
D002118	Calcium	[KISS1 protein results in increased activity of KISS1R protein] which results in increased abundance of Calcium	18948403
D002118	Calcium	Tetrodotoxin inhibits the reaction [[KISS1 protein results in increased activity of KISS1R protein] which results in increased abundance of Calcium]	18948403
D002118	Calcium	Tetrodotoxin promotes the reaction [2-aminoethyl diphenylborinate inhibits the reaction [[KISS1 protein results in increased activity of KISS1R protein] which results in increased abundance of Calcium]]	18948403
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of KISS1R mRNA	22941251
C045089	corticotropin releasing hormone (9-41)	corticotropin releasing hormone (9-41) results in increased expression of KISS1R mRNA	30342430
D016572	Cyclosporine	Cyclosporine results in decreased expression of KISS1R mRNA	20106945; 25562108;
D000077209	Decitabine	Decitabine results in increased expression of KISS1R mRNA	16367923
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of KISS1R mRNA	24056307
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of KISS1R mRNA	28871463
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KISS1R mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KISS1R mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KISS1R mRNA	27188386
C118739	entinostat	entinostat results in increased expression of KISS1R mRNA	26272509; 27188386;
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KISS1R mRNA	27188386
C074283	estradiol 3-benzoate	estradiol 3-benzoate results in decreased expression of KISS1R mRNA	21277884
D000431	Ethanol	Ethanol affects the expression of KISS1R mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of KISS1R mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of KISS1R mRNA	23129252
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of KISS1R gene	16495775
D017316	Fadrozole	Fadrozole inhibits the reaction [bis(4-hydroxyphenyl)sulfone results in increased expression of KISS1R mRNA]	26653335
D005439	Flufenamic Acid	Flufenamic Acid inhibits the reaction [[KISS1 protein results in increased activity of KISS1R protein] which results in increased abundance of Calcium]	18948403
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of KISS1R mRNA	23410634
D008345	Manganese	Manganese results in increased expression of KISS1R mRNA	23997110
C025340	manganese chloride	manganese chloride results in increased expression of KISS1R mRNA	28801915
D008694	Methamphetamine	Methamphetamine results in increased expression of KISS1R mRNA	29802913
C028007	nickel monoxide	nickel monoxide results in decreased expression of KISS1R mRNA	19167457
C558013	NSC 689534	NSC 689534 results in increased expression of KISS1R mRNA	20971185
D010126	Ozone	Ozone inhibits the reaction [Water Pollutants results in increased expression of KISS1R mRNA]	22856545
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KISS1R mRNA	27188386
C410127	PCB 180	[2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of KISS1R mRNA	21277884
D010936	Plant Extracts	Plant Extracts results in decreased expression of KISS1R mRNA	23557933
D011441	Propylthiouracil	Propylthiouracil results in increased expression of KISS1R mRNA	24780913
C513428	pyrachlostrobin	pyrachlostrobin results in decreased expression of KISS1R mRNA	27029645
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide affects the expression of KISS1R mRNA	23410634
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of KISS1R mRNA	20106945; 21632981;
D013779	Tetrodotoxin	Tetrodotoxin inhibits the reaction [[KISS1 protein results in increased activity of KISS1R protein] which results in increased abundance of Calcium]	18948403
D013779	Tetrodotoxin	Tetrodotoxin promotes the reaction [2-aminoethyl diphenylborinate inhibits the reaction [[KISS1 protein results in increased activity of KISS1R protein] which results in increased abundance of Calcium]]	18948403
D013849	Thimerosal	Thimerosal results in decreased expression of KISS1R mRNA	27188386
D014212	Tretinoin	Tretinoin results in increased expression of KISS1R mRNA	21934132
C012589	trichostatin A	trichostatin A results in increased expression of KISS1R mRNA	24935251
D014260	Triclosan	Triclosan results in increased expression of KISS1R mRNA	30510588
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KISS1R mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of KISS1R mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of KISS1R mRNA	23179753; 24383497; 24935251; 25192806; 26272509; 27188386; 28001369; 29154799;
D014635	Valproic Acid	Valproic Acid results in increased methylation of KISS1R gene	29154799
D024483	Vitamin K 3	Vitamin K 3 affects the expression of KISS1R mRNA	23410634
D014873	Water Pollutants	Ozone inhibits the reaction [Water Pollutants results in increased expression of KISS1R mRNA]	22856545
D014873	Water Pollutants	Water Pollutants results in increased expression of KISS1R mRNA	22856545

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-1003	Cell membrane
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0297	G-protein coupled receptor
KW-0325	Glycoprotein
KW-1016	Hypogonadotropic hypogonadism
KW-0472	Membrane
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0807	Transducer
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR000276	GPCR_Rhodpsn
IPR017452	GPCR_Rhodpsn_7TM
IPR008103	KiSS_1_rcpt

PROSITE

PROSITE ID	PROSITE Term
PS50262	G_PROTEIN_RECEP_F1_2

Pfam

Pfam ID	Pfam Term
PF00001	7tm_1

Gene: KISS1R

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction