COQ10B

coenzyme Q10B

Basic information

Region (hg38): 2:197453493-197475310

Links

ENSG00000115520 ∙ NCBI:80219 ∙ ∙ HGNC:25819 ∙ Uniprot:Q9H8M1 ∙ 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 COQ10B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COQ10B 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			12	1		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	12	1	0

Variants in COQ10B

This is a list of pathogenic ClinVar variants found in the COQ10B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-197453574-C-T		not specified	Uncertain significance (Jul 02, 2024)
2-197459949-G-C		not specified	Uncertain significance (Apr 29, 2024)
2-197459949-G-T		not specified	Uncertain significance (Aug 08, 2023)
2-197459994-C-G		not specified	Uncertain significance (Jan 24, 2024)
2-197460024-A-G		not specified	Likely benign (May 17, 2023)
2-197460033-C-A		not specified	Uncertain significance (Nov 10, 2022)
2-197460047-A-G		not specified	Uncertain significance (Mar 07, 2025)
2-197462539-A-G		not specified	Likely benign (Aug 28, 2023)
2-197470118-C-T		not specified	Uncertain significance (Nov 17, 2022)
2-197470128-C-T		not specified	Uncertain significance (Jan 02, 2024)
2-197473784-C-T		not specified	Uncertain significance (Mar 13, 2023)
2-197473812-A-G		not specified	Uncertain significance (Nov 17, 2022)
2-197473839-C-T		not specified	Uncertain significance (Feb 14, 2024)
2-197473890-G-A		not specified	Uncertain significance (Dec 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
COQ10B	protein_coding	protein_coding	ENST00000263960	5	21886

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.294	0.702	125678	0	6	125684	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.00	96	128	0.750	0.00000611	1507
Missense in Polyphen		32	56.996	0.56144		698
Synonymous	0.636	39	44.4	0.879	0.00000194	472
Loss of Function	2.48	3	12.5	0.241	7.63e-7	161

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000619	0.0000615
Ashkenazi Jewish	0.000103	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000356	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes (By similarity). {ECO:0000250}.
• Pathway: Respiratory electron transport;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (Consensus)

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.521
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.95

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.319
• ghis: 0.515

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.444

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Coq10b

Gene ontology

• Biological process: ubiquinone biosynthetic process;cellular respiration
• Cellular component: mitochondrion;mitochondrial inner membrane
• Molecular function: ubiquinone binding