SERPINB7 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SERPINB7 (HGNC:13902) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- serpin family B member 7
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- MEGSIN
- %HI
- 63.85(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.31(Read more about gnomAD LOEUF score)
- Cytoband
- 18q21.33
- Genomic Coordinates
-
GRCh37/hg19: chr18:61420291-61472604 NCBI Ensembl UCSC GRCh38/hg38: chr18:63753057-63805370 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003784.4 ENST00000398019.7 (Read more about MANE Select)
- Function
- Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-36983
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
11/13/2014
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- palmoplantar keratoderma, Nagashima type Monarch
HI Evidence Comments:
Biallelic loss of function mutations in SERPINB7 are associated with autosomal recessive Nagashima-type palmoplantar kerotosis. One common mutation was found to be a founder mutation in Japanese and Chinese populations. See Kubo, 2013, PMID: 24207119; Mizuno, 2014, PMID: 24773080; Yin, 2014, PMID: 24514002; Kubo, 2014, PMID: 25029323.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000018.9)
(NC_000018.10)