COX14
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
COX14 (HGNC:28216) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cytochrome c oxidase assembly factor COX14
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C12orf62
Alias symbols
MGC14288
%HI
44.4(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.22(Read more about gnomAD pLI score)
LOEUF
1.2(Read more about gnomAD LOEUF score)
Cytoband
12q13.12
Genomic Coordinates
GRCh37/hg19: chr12:50506019-50514236 NCBI Ensembl UCSC
GRCh38/hg38: chr12:50112236-50120453 NCBI Ensembl UCSC
MANE Select Transcript
NM_032901.4 ENST00000550487.6 (Read more about MANE Select)
Function
Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Requires for coordination of the early steps of cytochrome c oxidase assembly with the synthesis of MT-CO1. {ECO:0000269|PubMed:22243966, ECO:0000269|PubMed:22356826}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24017
ClinGen Curation ID:
CCID:006919
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:
  • cytochrome-c oxidase deficiency disease Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)