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)
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:
- 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)