ACP5
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ACP5 (HGNC:124) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
acid phosphatase 5, tartrate resistant
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
TRAP, HPAP, TRAcP
%HI
66.32(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.14(Read more about gnomAD LOEUF score)
Cytoband
19p13.2
Genomic Coordinates
GRCh37/hg19: chr19:11685475-11689790 NCBI Ensembl UCSC
GRCh38/hg38: chr19:11574660-11578975 NCBI Ensembl UCSC
MANE Select Transcript
NM_001611.5 ENST00000648477.1 (Read more about MANE Select)
Function
Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T- cell leukemias. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28003
ClinGen Curation ID:
CCID:006611
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Spondyloenchondrodysplasia with immune dysregulation Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)