CHMP1A |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CHMP1A (HGNC:8740) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- charged multivesicular body protein 1A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PRSM1, PCOLN3
- Alias symbols
- KIAA0047, CHMP1, Vps46A
- %HI
- 33.54(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.18(Read more about gnomAD LOEUF score)
- Cytoband
- 16q24.3
- Genomic Coordinates
-
GRCh37/hg19: chr16:89710843-89724116 NCBI Ensembl UCSC GRCh38/hg38: chr16:89644435-89657708 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002768.5 ENST00000397901.8 (Read more about MANE Select)
- Function
- Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzyme... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-1796
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:
- pontocerebellar hypoplasia type 8 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000016.9)
(NC_000016.10)