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)
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:
- 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)