COG8
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
COG8 (HGNC:18623) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
component of oligomeric golgi complex 8
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ22315, DOR1
%HI
32.72(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.26(Read more about gnomAD LOEUF score)
Cytoband
16q22.1
Genomic Coordinates
GRCh37/hg19: chr16:69360331-69373467 NCBI Ensembl UCSC
GRCh38/hg38: chr16:69326428-69339564 NCBI Ensembl UCSC
MANE Select Transcript
NM_032382.5 ENST00000306875.10 (Read more about MANE Select)
Function
Required for normal Golgi function. {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36859
ClinGen Curation ID:
CCID:006900
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:
03/25/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • COG8-congenital disorder of glycosylation Monarch
HI Evidence Comments:
Variants in COG8 have been described in congenital disorder of glycosylation type IIh, an autosomal recessive disorder.

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)