COPS8 COP9 signalosome subunit 8
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 24 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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24 |
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 | |||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | COP9 |
SYNONYM | CSN8 |
SYNONYM | SGN8 |
MIM | 616011 OMIM |
HGNC | HGNC:24335 HGNC |
Ensembl | ENSG00000198612 Ensembl |
AllianceGenome | HGNC:24335 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000409334.5 | hg38 | chr2 | 237,085,884 | 237,097,933 | 12,050 |
ENST00000392008.6 | hg38 | chr2 | 237,085,882 | 237,098,618 | 12,737 |
ENST00000354371.7 | hg38 | chr2 | 237,085,889 | 237,100,474 | 14,586 |
ENST00000392008.6 | hg19 | chr2 | 237,994,525 | 238,007,261 | 12,737 |
ENST00000409334.5 | hg19 | chr2 | 237,994,527 | 238,006,576 | 12,050 |
ENST00000354371.7 | hg19 | chr2 | 237,994,532 | 238,009,117 | 14,586 |
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