COQ7

coenzyme Q7, hydroxylase

Basic information

Region (hg38): 16:19067614-19080095

Links

ENSG00000167186 ∙ NCBI:10229 ∙ OMIM:601683 ∙ HGNC:2244 ∙ Uniprot:Q99807 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• primary coenzyme Q10 deficiency 8 (Limited), mode of inheritance: AR
• primary coenzyme Q10 deficiency 8 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Coenzyme Q10 deficiency, primary 8	AR	Biochemical	Treatment with coenzyme Q10 has been described as possibly beneficial	Biochemical; Cardiovascular; Musculoskeletal; Neurologic; Renal	26084283; 36454683; 36758993; 37077559

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the COQ7 gene.

• Primary coenzyme Q10 deficiency 8 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COQ7 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				33	2	35
missense	1		70	4	3	78
nonsense			2			2
start loss		1				1
frameshift	1	2	5			8
inframe indel			1		1	2
splice donor/acceptor (+/-2bp)			2			2
splice region			7	5	2	14
non coding			2	31	11	44
Total	2	3	82	68	17

Variants in COQ7

This is a list of pathogenic ClinVar variants found in the COQ7 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-19067651-T-TTTTAG		COQ7-related disorder	Uncertain significance (Nov 21, 2023)
16-19067665-A-C		Primary coenzyme Q10 deficiency 8	Likely pathogenic (May 06, 2023)
16-19067665-A-G		Neuronopathy, distal hereditary motor, autosomal recessive 9	Pathogenic (Oct 17, 2023)
16-19067667-G-T		Neuronopathy, distal hereditary motor, autosomal recessive 9 • Primary coenzyme Q10 deficiency 8	Conflicting classifications of pathogenicity (Oct 24, 2022)
16-19067672-G-C		not specified	Uncertain significance (May 26, 2024)
16-19067672-G-T			Uncertain significance (Mar 28, 2022)
16-19067673-C-A		Primary coenzyme Q10 deficiency 8	Uncertain significance (Aug 07, 2018)
16-19067673-C-T			Likely benign (Apr 24, 2023)
16-19067675-CCGGGGCGGCGG-C			Uncertain significance (Aug 01, 2023)
16-19067677-G-C		not specified	Likely benign (Nov 29, 2021)
16-19067678-G-T			Uncertain significance (Mar 28, 2022)
16-19067678-GGGC-G			Uncertain significance (Jul 06, 2022)
16-19067678-G-GGGC			Benign (Jan 29, 2024)
16-19067681-C-T		not specified	Uncertain significance (Feb 28, 2023)
16-19067681-CG-AA			Uncertain significance (Mar 29, 2022)
16-19067684-C-G			Uncertain significance (Sep 27, 2022)
16-19067684-C-T			Uncertain significance (Jan 22, 2024)
16-19067684-C-CGGCGGCTCCCCGCCTTT		Primary coenzyme Q10 deficiency 8	Likely pathogenic (-)
16-19067687-C-T			Uncertain significance (Mar 23, 2022)
16-19067689-G-C			Uncertain significance (Aug 06, 2021)
16-19067707-C-T			Likely benign (Sep 09, 2022)
16-19067711-G-T			Uncertain significance (May 03, 2022)
16-19067714-C-T			Benign (Jan 17, 2024)
16-19067715-G-A			Benign (Feb 01, 2024)
16-19067717-G-A			Uncertain significance (Jun 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
COQ7	protein_coding	protein_coding	ENST00000321998	6	12497

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000381	0.380	125702	0	44	125746	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.463	153	138	1.11	0.00000839	1391
Missense in Polyphen		46	43.882	1.0483		429
Synonymous	-0.276	57	54.4	1.05	0.00000349	425
Loss of Function	0.418	9	10.5	0.861	5.12e-7	121

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000790	0.000786
European (Non-Finnish)	0.000132	0.000132
Middle Eastern	0.0000544	0.0000544
South Asian	0.000209	0.000196
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6- methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner. {ECO:0000255|HAMAP-Rule:MF_03194}.
• Pathway: Ubiquinone and other terpenoid-quinone biosynthesis - Homo sapiens (human);Ubiquinone Biosynthesis;Metabolism;Ubiquinol biosynthesis;Metabolism of cofactors;Metabolism of vitamins and cofactors;ubiquinol-10 biosynthesis (Consensus)

Recessive Scores

• pRec: 0.143

Intolerance Scores

• loftool: 0.728
• rvis_EVS: -0.12
• rvis_percentile_EVS: 45.13

Haploinsufficiency Scores

• pHI: 0.159
• hipred: N
• hipred_score: 0.251
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.882

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Coq7
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); embryo phenotype; liver/biliary system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; cellular phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;ubiquinone biosynthetic process;determination of adult lifespan;response to drug;mitochondrial ATP synthesis coupled electron transport;positive regulation of transcription by RNA polymerase II;regulation of reactive oxygen species metabolic process
• Cellular component: nucleus;mitochondrial inner membrane;extrinsic component of mitochondrial inner membrane
• Molecular function: protein binding;2-octoprenyl-3-methyl-6-methoxy-1,4-benzoquinone hydroxylase activity;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;metal ion binding