GPS1 G protein pathway suppressor 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 34 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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44 |
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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 | COPS1 |
SYNONYM | CSN1 |
SYNONYM | SGN1 |
MIM | 601934 OMIM |
HGNC | HGNC:4549 HGNC |
Ensembl | ENSG00000169727 Ensembl |
AllianceGenome | HGNC:4549 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000706669.1 | hg38 | chr17 | 82,051,898 | 82,057,470 | 5,573 |
ENST00000624957.3 | hg38 | chr17 | 82,051,893 | 82,057,440 | 5,548 |
ENST00000320548.8 | hg38 | chr17 | 82,051,875 | 82,057,470 | 5,596 |
ENST00000578552.6 | hg38 | chr17 | 82,051,898 | 82,057,470 | 5,573 |
ENST00000706670.1 | hg38 | chr17 | 82,051,898 | 82,057,470 | 5,573 |
ENST00000623691.3 | hg38 | chr17 | 82,051,897 | 82,057,470 | 5,574 |
ENST00000306823.10 | hg38 | chr17 | 82,051,909 | 82,057,470 | 5,562 |
ENST00000392358.6 | hg38 | chr17 | 82,051,958 | 82,057,470 | 5,513 |
ENST00000623761.3 | hg38 | chr17 | 82,052,242 | 82,057,424 | 5,183 |
ENST00000306823.10 | hg19 | chr17 | 80,009,785 | 80,015,346 | 5,562 |
ENST00000392358.6 | hg19 | chr17 | 80,009,834 | 80,015,346 | 5,513 |
ENST00000578552.6 | hg19 | chr17 | 80,009,774 | 80,015,346 | 5,573 |
ENST00000320548.8 | hg19 | chr17 | 80,009,751 | 80,015,346 | 5,596 |
ENST00000623761.3 | hg19 | chr17 | 80,010,118 | 80,015,300 | 5,183 |
ENST00000624957.3 | hg19 | chr17 | 80,009,769 | 80,015,316 | 5,548 |
ENST00000623691.3 | hg19 | chr17 | 80,009,773 | 80,015,346 | 5,574 |
ENST00000706670.1 | hg19 | chr17 | 80,009,774 | 80,015,346 | 5,573 |
ENST00000706669.1 | hg19 | chr17 | 80,009,774 | 80,015,346 | 5,573 |
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