• 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)