COX7B2
Basic information
Region (hg38): 4:46734827-46909245
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the COX7B2 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 | |||||
| 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 COX7B2
This is a list of pathogenic ClinVar variants found in the COX7B2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 4-46735000-A-G | not specified | Uncertain significance (Jun 24, 2022) | ||
| 4-46735002-T-G | not specified | Uncertain significance (Sep 11, 2024) | ||
| 4-46735054-T-A | not specified | Uncertain significance (Nov 28, 2023) | ||
| 4-46735101-G-A | not specified | Uncertain significance (Jan 11, 2023) | ||
| 4-46735129-T-C | not specified | Uncertain significance (Jun 22, 2023) | ||
| 4-46735137-A-G | not specified | Uncertain significance (Nov 26, 2024) | ||
| 4-46735149-A-G | not specified | Uncertain significance (Dec 13, 2023) | ||
| 4-46735171-T-C | not specified | Uncertain significance (Dec 16, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| COX7B2 | protein_coding | protein_coding | ENST00000396533 | 1 | 174409 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.775 | 56 | 41.9 | 1.34 | 0.00000177 | 532 |
| Missense in Polyphen | 17 | 10.952 | 1.5522 | 175 | ||
| Synonymous | 0.840 | 10 | 14.0 | 0.714 | 5.98e-7 | 152 |
| Loss of Function |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | ||
| East Asian | ||
| Finnish | ||
| European (Non-Finnish) | ||
| Middle Eastern | ||
| South Asian | ||
| Other |
dbNSFP
Source:
- Function
- FUNCTION: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.;
- Pathway
- Cardiac muscle contraction - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Huntington,s disease - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Oxidative phosphorylation - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human)
(Consensus)
Intolerance Scores
- loftool
- 0.647
- rvis_EVS
- 0.01
- rvis_percentile_EVS
- 54.63
Haploinsufficiency Scores
- pHI
- 0.0722
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.468
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.220
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cox7b2
- Phenotype
Gene ontology
- Biological process
- electron transport chain;proton transmembrane transport
- Cellular component
- mitochondrial respirasome;integral component of membrane;respiratory chain complex IV
- Molecular function
- cytochrome-c oxidase activity