COX16 cytochrome c oxidase assembly factor COX16
Information
- Symbol
- COX16
- Type
- protein-coding
- Description
- cytochrome c oxidase assembly factor COX16
- Entrez Gene ID
- 51241
- Genome
- hg19
- Position
- chr14:70,791,798-70,826,400
- Genome
- hg38
- Position
- chr14:70,325,081-70,359,683
- MIM
- 618064 OMIM
- HGNC
- HGNC:20213 HGNC
- Ensembl
- ENSG00000133983 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 22 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
24 |
 |
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
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MGeND data only
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| 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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| 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 | C14orf112 |
| SYNONYM | HSPC203 |
| SYNONYM | MC4DN22 |
| SYNONYM | hCOX16 |
| MIM | 618064 OMIM |
| HGNC | HGNC:20213 HGNC |
| Ensembl | ENSG00000133983 Ensembl |
| AllianceGenome | HGNC:20213 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000389912.7 | hg38 | chr14 | 70,325,081 | 70,359,683 | 34,603 |
| ENST00000389912.7 | hg19 | chr14 | 70,791,798 | 70,826,400 | 34,603 |
| Key | Value |
|---|---|
| strand | - |
| start | 70,791,797 |
| Gene Symbol | COX16 |
| Entrez GeneId | 51,241 |
| Chr Band | 14q24.2 |
| end | 70,826,447 |
| chr | chr14 |
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