COA6 cytochrome c oxidase assembly factor 6
Information
- Symbol
- COA6
- Type
- protein-coding
- Description
- cytochrome c oxidase assembly factor 6
- Entrez Gene ID
- 388753
- Genome
- hg19
- Position
- chr1:234,509,202-234,520,826
- Genome
- hg38
- Position
- chr1:234,373,456-234,385,080
- MIM
- 614772 OMIM
- HGNC
- HGNC:18025 HGNC
- Ensembl
- ENSG00000168275 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Likely pathogenic | 0 | 4 |
| Benign | 0 | 24 |
| Likely benign | 0 | 40 |
| Uncertain significance | 0 | 24 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
24 |
 |
64 |
 |
6 |
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 | C1orf31 |
| SYNONYM | CEMCOX4 |
| SYNONYM | MC4DN13 |
| MIM | 614772 OMIM |
| HGNC | HGNC:18025 HGNC |
| Ensembl | ENSG00000168275 Ensembl |
| AllianceGenome | HGNC:18025 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000366615.10 | hg38 | chr1 | 234,373,456 | 234,385,080 | 11,625 |
| ENST00000366613.1 | hg38 | chr1 | 234,373,683 | 234,384,045 | 10,363 |
| ENST00000366612.1 | hg38 | chr1 | 234,373,701 | 234,384,046 | 10,346 |
| ENST00000619305.1 | hg38 | chr1 | 234,373,468 | 234,384,048 | 10,581 |
| ENST00000366615.10 | hg19 | chr1 | 234,509,202 | 234,520,826 | 11,625 |
| ENST00000619305.1 | hg19 | chr1 | 234,509,214 | 234,519,794 | 10,581 |
| ENST00000366613.1 | hg19 | chr1 | 234,509,429 | 234,519,791 | 10,363 |
| ENST00000366612.1 | hg19 | chr1 | 234,509,447 | 234,519,792 | 10,346 |
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