COX14 cytochrome c oxidase assembly factor COX14
Information
- Symbol
- COX14
- Type
- protein-coding
- Description
- cytochrome c oxidase assembly factor COX14
- Entrez Gene ID
- 84987
- Genome
- hg19
- Position
- chr12:50,505,865-50,514,234
- Genome
- hg38
- Position
- chr12:50,112,082-50,120,451
- MIM
- 614478 OMIM
- HGNC
- HGNC:28216 HGNC
- Ensembl
- ENSG00000178449 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 10 |
| Likely benign | 0 | 22 |
| Uncertain significance | 0 | 30 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
10 |
 |
54 |
 |
2 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | C12orf62 |
| SYNONYM | MC4DN10 |
| SYNONYM | PCAG1 |
| MIM | 614478 OMIM |
| HGNC | HGNC:28216 HGNC |
| Ensembl | ENSG00000178449 Ensembl |
| AllianceGenome | HGNC:28216 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000550654.1 | hg38 | chr12 | 50,112,204 | 50,120,457 | 8,254 |
| ENST00000317943.6 | hg38 | chr12 | 50,112,082 | 50,120,451 | 8,370 |
| ENST00000548985.1 | hg38 | chr12 | 50,112,237 | 50,120,451 | 8,215 |
| ENST00000550487.6 | hg38 | chr12 | 50,112,236 | 50,120,453 | 8,218 |
| ENST00000317943.6 | hg19 | chr12 | 50,505,865 | 50,514,234 | 8,370 |
| ENST00000550654.1 | hg19 | chr12 | 50,505,987 | 50,514,240 | 8,254 |
| ENST00000550487.6 | hg19 | chr12 | 50,506,019 | 50,514,236 | 8,218 |
| ENST00000548985.1 | hg19 | chr12 | 50,506,020 | 50,514,234 | 8,215 |
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