COQ4
Basic information
Region (hg38): 9:128322544-128334072
Links
Phenotypes
GenCC
Source:
- neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Supportive), mode of inheritance: AR
- neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Strong), mode of inheritance: AR
- mitochondrial disease (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Coenzyme Q10 deficiency 7 | AR | Biochemical | Treatment with coenzyme Q10 has been described as possibly beneficial | Biochemical; Cardiovascular; Neurologic | 22368301; 25658047; 33704555; 33704555; 36047608; 38013626; 38014483 |
ClinVar
This is a list of variants' phenotypes submitted to
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (13 variants)
- Spastic ataxia 10, autosomal recessive (2 variants)
- not provided (2 variants)
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome;Spastic ataxia 10, autosomal recessive (1 variants)
- Spastic ataxia (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the COQ4 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 | 72 | 75 | ||||
missense | 90 | 106 | ||||
nonsense | 7 | |||||
start loss | 2 | |||||
frameshift | 7 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 7 | |||||
splice region | 6 | 8 | 14 | |||
non coding | 44 | 53 | ||||
Total | 14 | 17 | 93 | 119 | 14 |
Highest pathogenic variant AF is 0.0000263
Variants in COQ4
This is a list of pathogenic ClinVar variants found in the COQ4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
9-128322588-T-A | Likely benign (Jul 15, 2018) | |||
9-128322834-C-T | not specified | Benign (Jun 30, 2016) | ||
9-128322839-C-G | not specified • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Likely benign (Oct 08, 2021) | ||
9-128322842-C-T | not specified | Likely benign (Jan 25, 2017) | ||
9-128322847-A-G | not specified | Likely benign (May 18, 2017) | ||
9-128322848-C-A | not specified | Likely benign (Jan 25, 2018) | ||
9-128322859-A-G | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome;Spastic ataxia 10, autosomal recessive | Conflicting classifications of pathogenicity (Apr 27, 2024) | ||
9-128322860-T-C | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Likely pathogenic (Aug 05, 2019) | ||
9-128322860-T-G | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Uncertain significance (Apr 21, 2022) | ||
9-128322868-C-T | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Likely benign (Nov 13, 2023) | ||
9-128322869-T-A | Uncertain significance (Jul 16, 2024) | |||
9-128322870-G-C | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Likely benign (Oct 19, 2022) | ||
9-128322875-G-A | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome • Inborn genetic diseases | Uncertain significance (Nov 03, 2023) | ||
9-128322875-GCC-G | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Pathogenic (Nov 18, 2023) | ||
9-128322876-C-T | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Likely benign (Apr 08, 2024) | ||
9-128322877-C-T | Inborn genetic diseases • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Uncertain significance (Dec 03, 2021) | ||
9-128322879-T-C | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Likely benign (Dec 12, 2024) | ||
9-128322879-TGTCCTCCGTCG-T | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome • Spastic ataxia 10, autosomal recessive;Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Pathogenic (Jan 25, 2024) | ||
9-128322881-T-A | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Uncertain significance (Jan 22, 2024) | ||
9-128322882-C-T | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Likely benign (Apr 09, 2023) | ||
9-128322886-C-T | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Uncertain significance (Jun 13, 2022) | ||
9-128322887-G-C | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Uncertain significance (Jun 26, 2022) | ||
9-128322889-C-A | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Likely benign (Jun 15, 2023) | ||
9-128322889-C-T | Uncertain significance (Jun 14, 2023) | |||
9-128322890-G-C | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Uncertain significance (Jan 14, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
COQ4 | protein_coding | protein_coding | ENST00000300452 | 7 | 11537 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.40e-9 | 0.0973 | 125677 | 0 | 71 | 125748 | 0.000282 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.364 | 157 | 170 | 0.921 | 0.0000107 | 1643 |
Missense in Polyphen | 73 | 82.796 | 0.88168 | 792 | ||
Synonymous | -1.24 | 87 | 73.5 | 1.18 | 0.00000441 | 589 |
Loss of Function | -0.0102 | 13 | 13.0 | 1.00 | 8.22e-7 | 124 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000365 | 0.000359 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000598 | 0.000598 |
Finnish | 0.00116 | 0.00116 |
European (Non-Finnish) | 0.000181 | 0.000176 |
Middle Eastern | 0.000598 | 0.000598 |
South Asian | 0.000164 | 0.000163 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides. {ECO:0000255|HAMAP- Rule:MF_03111, ECO:0000269|PubMed:18474229}.;
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- loftool
- rvis_EVS
- 0.51
- rvis_percentile_EVS
- 80.01
Haploinsufficiency Scores
- pHI
- 0.136
- hipred
- N
- hipred_score
- 0.248
- ghis
- 0.421
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.666
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Coq4
- 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); homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- ubiquinone biosynthetic process
- Cellular component
- mitochondrion;extrinsic component of mitochondrial inner membrane;protein-containing complex
- Molecular function
- protein binding