• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
COX10 (HGNC:2260) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
60.22(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.08(Read more about gnomAD pLI score)
LOEUF
0.61(Read more about gnomAD LOEUF score)
Cytoband
17p12
Genomic Coordinates
GRCh37/hg19: chr17:13972821-14111994 NCBI Ensembl UCSC
GRCh38/hg38: chr17:14069504-14208677 NCBI Ensembl UCSC
MANE Select Transcript
NM_001303.4 ENST00000261643.8 (Read more about MANE Select)
Function
Converts protoheme IX and farnesyl diphosphate to heme O. {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12785
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)