COPS7A COP9 signalosome subunit 7A
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
12 |
 |
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
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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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| 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 | CSN7 |
| SYNONYM | CSN7A |
| SYNONYM | SGN7a |
| MIM | 616009 OMIM |
| HGNC | HGNC:16758 HGNC |
| Ensembl | ENSG00000111652 Ensembl |
| AllianceGenome | HGNC:16758 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000539735.5 | hg38 | chr12 | 6,724,079 | 6,731,828 | 7,750 |
| ENST00000534947.5 | hg38 | chr12 | 6,724,287 | 6,731,875 | 7,589 |
| ENST00000534877.5 | hg38 | chr12 | 6,724,298 | 6,731,842 | 7,545 |
| ENST00000538410.5 | hg38 | chr12 | 6,724,082 | 6,731,832 | 7,751 |
| ENST00000229251.7 | hg38 | chr12 | 6,724,071 | 6,731,807 | 7,737 |
| ENST00000543155.6 | hg38 | chr12 | 6,724,046 | 6,731,865 | 7,820 |
| ENST00000626119.2 | hg38 | chr12 | 6,724,014 | 6,731,873 | 7,860 |
| ENST00000229251.7 | hg19 | chr12 | 6,833,237 | 6,840,973 | 7,737 |
| ENST00000534877.5 | hg19 | chr12 | 6,833,464 | 6,841,008 | 7,545 |
| ENST00000534947.5 | hg19 | chr12 | 6,833,453 | 6,841,041 | 7,589 |
| ENST00000626119.2 | hg19 | chr12 | 6,833,180 | 6,841,039 | 7,860 |
| ENST00000538410.5 | hg19 | chr12 | 6,833,248 | 6,840,998 | 7,751 |
| ENST00000539735.5 | hg19 | chr12 | 6,833,245 | 6,840,994 | 7,750 |
| ENST00000543155.6 | hg19 | chr12 | 6,833,212 | 6,841,031 | 7,820 |
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