COX6B1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- COX6B1 (HGNC:2280) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- cytochrome c oxidase subunit 6B1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- COX6B
- Alias symbols
- COXG
- %HI
- 28.4(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.99(Read more about gnomAD pLI score)
- LOEUF
- 0.42(Read more about gnomAD LOEUF score)
- Cytoband
- 19q13.12
- Genomic Coordinates
-
GRCh37/hg19: chr19:36139225-36149684 NCBI Ensembl UCSC GRCh38/hg38: chr19:35648323-35658782 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001863.5 ENST00000649813.2 (Read more about MANE Select)
- Function
- Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30859
ClinGen Curation ID:
CCID:006922
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_000019.9)
(NC_000019.10)