COA8

cytochrome c oxidase assembly factor 8, the group of Mitochondrial respiratory chain complex assembly factors

Basic information

Region (hg38): 14:103562960-103607523

Previous symbols: [ "C14orf153", "APOPT1" ]

Links

ENSG00000256053 ∙ NCBI:84334 ∙ OMIM:616003 ∙ HGNC:20492 ∙ Uniprot:Q96IL0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (Supportive), mode of inheritance: AR
• mitochondrial complex IV deficiency, nuclear type 17 (Strong), mode of inheritance: AR
• mitochondrial disease (Definitive), mode of inheritance: AR
• mitochondrial complex IV deficiency, nuclear type 17 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Mitochondrial complex IV deficiency, nuclear type 17	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Biochemical; Neurologic	25175347

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the COA8 gene.

• not_provided (106 variants)
• Inborn_genetic_diseases (34 variants)
• Mitochondrial_complex_IV_deficiency,_nuclear_type_17 (26 variants)
• COA8-related_disorder (12 variants)
• not_specified (12 variants)
• Mitochondrial_complex_IV_deficiency,_nuclear_type_1 (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COA8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001370595.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2	19		21
missense		2	53	3	4	62
nonsense	2	3				5
start loss			3			3
frameshift	4	4	2			10
splice donor/acceptor (+/-2bp)	1	1	1	1		4
Total	7	10	61	23	4

Highest pathogenic variant AF is 0.0042947964

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
COA8	protein_coding	protein_coding	ENST00000409074	5	44562

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000206	0.746	125722	0	25	125747	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.497	114	100	1.14	0.00000465	1321
Missense in Polyphen		21	26.964	0.77881		385
Synonymous	-1.16	45	36.1	1.25	0.00000168	350
Loss of Function	1.00	7	10.5	0.666	5.09e-7	131

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000655	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the regulation of apoptosis. Mediates mitochondria-induced cell death in vascular smooth muscle cells through the release of cytochrome c from mitochondria, followed by the activation of the caspase cascade. {ECO:0000250|UniProtKB:Q9CQW7}.

Recessive Scores

• pRec: 0.101

Intolerance Scores

• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.95

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Apopt1

Gene ontology

• Biological process: positive regulation of smooth muscle cell apoptotic process;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;positive regulation of release of cytochrome c from mitochondria;intrinsic apoptotic signaling pathway
• Cellular component: mitochondrion