• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLURP1 (HGNC:18746) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
secreted LY6/PLAUR domain containing 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
ARS, ANUP, MDM, ArsB, LY6LS, LY6-MT
%HI
81.26(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.26(Read more about gnomAD pLI score)
LOEUF
1.31(Read more about gnomAD LOEUF score)
Cytoband
8q24.3
Genomic Coordinates
GRCh37/hg19: chr8:143822367-143823824 NCBI Ensembl UCSC
GRCh38/hg38: chr8:142740949-142742406 NCBI Ensembl UCSC
MANE Select Transcript
NM_020427.3 ENST00000246515.2 (Read more about MANE Select)
Function
Has an antitumor activity (PubMed:8742060). Was found to be a marker of late differentiation of the skin. Implicated in maintaining the physiological and structural integrity of the keratinocyte layers of the skin (PubMed:14721776, PubMed:17008884). In vitro down-regulates keratinocyte proliferation; the function may involve the proposed role as modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-7-dependent nAChR currents in an allosteric manner (PubMed:145... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8928
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
06/08/2017

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Homozygous mutations, apparently loss-of-function (including a small deletion and several missense/nonsense), are reported in the literature resulting in the Mal de Meleda (MDM) phenotype, a rare autosomal recessive skin disorder. PMIDs: 11285253, 21690549, 19120323

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No literature found.

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)