COA4

cytochrome c oxidase assembly factor 4 homolog, the group of Mitochondrial respiratory chain complex assembly factors|Coiled-coil-helix-coiled-coil-helix domain containing proteins

Basic information

Region (hg38): 11:73869846-73876901

Previous symbols: [ "CHCHD8" ]

Links

ENSG00000181924 ∙ NCBI:51287 ∙ OMIM:608016 ∙ HGNC:24604 ∙ Uniprot:Q9NYJ1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the COA4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COA4 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in COA4

This is a list of pathogenic ClinVar variants found in the COA4 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-73873170-G-A		not specified	Uncertain significance (Jun 22, 2021)
11-73873224-C-T		not specified	Uncertain significance (Dec 28, 2022)
11-73873257-A-G		not specified	Uncertain significance (Dec 09, 2024)
11-73873321-C-T		not specified	Uncertain significance (May 06, 2022)
11-73873322-A-C		not specified	Uncertain significance (Jul 07, 2024)
11-73873359-T-C		not specified	Uncertain significance (Jun 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
COA4	protein_coding	protein_coding	ENST00000355693	1	4322

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.213	0.658	125698	0	2	125700	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.294	48	54.1	0.887	0.00000333	574
Missense in Polyphen		19	21.744	0.87379		235
Synonymous	0.595	19	22.6	0.841	0.00000142	158
Loss of Function	1.05	1	2.95	0.339	1.29e-7	27

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative COX assembly factor. {ECO:0000250}.
• Pathway: Thermogenesis - Homo sapiens (human);Metabolism of proteins;Mitochondrial protein import (Consensus)

Recessive Scores

• pRec: 0.0293

Intolerance Scores

• rvis_EVS: 0.5
• rvis_percentile_EVS: 79.79

Haploinsufficiency Scores

• pHI: 0.00937
• hipred: N
• hipred_score: 0.170
• ghis: 0.479

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: K

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Coa4

Gene ontology

• Biological process: mitochondrial respiratory chain complex IV assembly
• Cellular component: mitochondrion;mitochondrial intermembrane space