COA4 cytochrome c oxidase assembly factor 4 homolog
Information
- Symbol
- COA4
- Type
- protein-coding
- Description
- cytochrome c oxidase assembly factor 4 homolog
- Entrez Gene ID
- 51287
- Genome
- hg19
- Position
- chr11:73,583,714-73,587,719
- Genome
- hg38
- Position
- chr11:73,872,669-73,876,674
- MIM
- 608016 OMIM
- HGNC
- HGNC:24604 HGNC
- Ensembl
- ENSG00000181924 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 8 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
8 |
 |
0 |
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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| 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 | CHCHD8 |
| SYNONYM | CMC3 |
| SYNONYM | E2IG2 |
| MIM | 608016 OMIM |
| HGNC | HGNC:24604 HGNC |
| Ensembl | ENSG00000181924 Ensembl |
| AllianceGenome | HGNC:24604 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000537289.1 | hg38 | chr11 | 73,872,997 | 73,876,843 | 3,847 |
| ENST00000541455.1 | hg38 | chr11 | 73,872,762 | 73,874,475 | 1,714 |
| ENST00000545127.1 | hg38 | chr11 | 73,872,669 | 73,876,674 | 4,006 |
| ENST00000355693.5 | hg38 | chr11 | 73,872,667 | 73,876,846 | 4,180 |
| ENST00000355693.5 | hg19 | chr11 | 73,583,712 | 73,587,891 | 4,180 |
| ENST00000545127.1 | hg19 | chr11 | 73,583,714 | 73,587,719 | 4,006 |
| ENST00000541455.1 | hg19 | chr11 | 73,583,807 | 73,585,520 | 1,714 |
| ENST00000537289.1 | hg19 | chr11 | 73,584,042 | 73,587,888 | 3,847 |
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