KISS1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
KISS1 (HGNC:6341) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
KiSS-1 metastasis suppressor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
85.61(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.48(Read more about gnomAD pLI score)
LOEUF
1.56(Read more about gnomAD LOEUF score)
Cytoband
1q32.1
Genomic Coordinates
GRCh37/hg19: chr1:204159469-204165619 NCBI Ensembl UCSC
GRCh38/hg38: chr1:204190341-204196491 NCBI Ensembl UCSC
MANE Select Transcript
NM_002256.4 ENST00000367194.5 (Read more about MANE Select)
Function
Metastasis suppressor protein in malignant melanomas and in some breast cancers. May regulate events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. Generates a C- terminally amidated peptide, metastin which functions as the endogenous ligand of the G-protein coupled receptor GPR54. Activation of the receptor inhibits cell proliferation and cell migration, key characteristics of tumor metastasis. Kp-10 is a decapeptide derived from the primary translation produ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36033
ClinGen Curation ID:
CCID:007370
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hypogonadotropic hypogonadism 13 with or without anosmia Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)