COPS7B COP9 signalosome subunit 7B
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 |
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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
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 | CSN7B |
SYNONYM | SGN7b |
MIM | 616010 OMIM |
HGNC | HGNC:16760 HGNC |
Ensembl | ENSG00000144524 Ensembl |
AllianceGenome | HGNC:16760 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000409091.5 | hg38 | chr2 | 231,781,685 | 231,807,695 | 26,011 |
ENST00000350033.8 | hg38 | chr2 | 231,786,445 | 231,809,253 | 22,809 |
ENST00000409295.5 | hg38 | chr2 | 231,781,678 | 231,807,815 | 26,138 |
ENST00000410024.5 | hg38 | chr2 | 231,781,671 | 231,807,724 | 26,054 |
ENST00000620578.4 | hg38 | chr2 | 231,786,383 | 231,809,254 | 22,872 |
ENST00000373608.7 | hg38 | chr2 | 231,786,448 | 231,809,253 | 22,806 |
ENST00000410017.5 | hg38 | chr2 | 231,786,445 | 231,808,723 | 22,279 |
ENST00000611614.4 | hg38 | chr2 | 231,781,671 | 231,809,254 | 27,584 |
ENST00000631349.1 | hg38 | chr2 | 231,788,571 | 231,790,977 | 2,407 |
ENST00000410024.5 | hg19 | chr2 | 232,646,381 | 232,672,434 | 26,054 |
ENST00000409295.5 | hg19 | chr2 | 232,646,388 | 232,672,525 | 26,138 |
ENST00000409091.5 | hg19 | chr2 | 232,646,395 | 232,672,405 | 26,011 |
ENST00000410017.5 | hg19 | chr2 | 232,651,155 | 232,673,433 | 22,279 |
ENST00000350033.8 | hg19 | chr2 | 232,651,155 | 232,673,963 | 22,809 |
ENST00000373608.7 | hg19 | chr2 | 232,651,158 | 232,673,963 | 22,806 |
ENST00000631349.1 | hg19 | chr2 | 232,653,281 | 232,655,687 | 2,407 |
ENST00000611614.4 | hg19 | chr2 | 232,646,381 | 232,673,964 | 27,584 |
ENST00000620578.4 | hg19 | chr2 | 232,651,093 | 232,673,964 | 22,872 |
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