SENP1 SUMO specific peptidase 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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4 |
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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
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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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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 |
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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 | SuPr-2 |
MIM | 612157 OMIM |
HGNC | HGNC:17927 HGNC |
Ensembl | ENSG00000079387 Ensembl |
AllianceGenome | HGNC:17927 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000549518.6 | hg38 | chr12 | 48,042,897 | 48,106,079 | 63,183 |
ENST00000549595.5 | hg38 | chr12 | 48,045,322 | 48,101,472 | 56,151 |
ENST00000448372.6 | hg38 | chr12 | 48,039,784 | 48,106,028 | 66,245 |
ENST00000448372.6 | hg19 | chr12 | 48,433,567 | 48,499,811 | 66,245 |
ENST00000549518.6 | hg19 | chr12 | 48,436,680 | 48,499,862 | 63,183 |
ENST00000549595.5 | hg19 | chr12 | 48,439,105 | 48,495,255 | 56,151 |
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