SLURP1 |
- 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:
- mal de Meleda Monarch
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)