EXPH5 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- EXPH5 (HGNC:30578) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- exophilin 5
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- SLAC2-B
- %HI
- 83.2(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.94(Read more about gnomAD LOEUF score)
- Cytoband
- 11q22.3
- Genomic Coordinates
-
GRCh37/hg19: chr11:108376162-108464495 NCBI Ensembl UCSC GRCh38/hg38: chr11:108505435-108607536 NCBI Ensembl UCSC - MANE Select Transcript
- NM_015065.3 ENST00000265843.9 (Read more about MANE Select)
- Function
- May act as Rab effector protein and play a role in vesicle trafficking. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30261
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)