DPM3 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DPM3 (HGNC:3007) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- dolichyl-phosphate mannosyltransferase subunit 3, regulatory
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- MGC34275, MGC125904, MGC125905
- %HI
- 53.99(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.01(Read more about gnomAD pLI score)
- LOEUF
- 1.37(Read more about gnomAD LOEUF score)
- Cytoband
- 1q22
- Genomic Coordinates
-
GRCh37/hg19: chr1:155112367-155113007 NCBI Ensembl UCSC GRCh38/hg38: chr1:155139891-155140531 NCBI Ensembl UCSC - MANE Select Transcript
- NM_153741.2 ENST00000368400.5 (Read more about MANE Select)
- Function
- Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum. {ECO:0000269|PubMed:10835346}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-35329
ClinGen Curation ID:
CCID:007028
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/09/2015
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- DPM3-congenital disorder of glycosylation Monarch
HI Evidence Comments:
Variants in DPM3 have been reported in association with congenital disorder of glycosylation type Io, an autosomal recessive condition.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)