SUMO1 small ubiquitin like modifier 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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38 |
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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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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 |
---|---|
SYNONYM | DAP1 |
SYNONYM | GMP1 |
SYNONYM | OFC10 |
SYNONYM | PIC1 |
SYNONYM | SENP2 |
SYNONYM | SMT3 |
SYNONYM | SMT3C |
SYNONYM | SMT3H3 |
SYNONYM | UBL1 |
MIM | 601912 OMIM |
HGNC | HGNC:12502 HGNC |
Ensembl | ENSG00000116030 Ensembl |
AllianceGenome | HGNC:12502 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000409205.5 | hg38 | chr2 | 202,207,031 | 202,238,462 | 31,432 |
ENST00000409368.5 | hg38 | chr2 | 202,206,650 | 202,238,594 | 31,945 |
ENST00000409498.6 | hg38 | chr2 | 202,207,008 | 202,238,586 | 31,579 |
ENST00000409181.1 | hg38 | chr2 | 202,206,870 | 202,238,569 | 31,700 |
ENST00000409712.5 | hg38 | chr2 | 202,206,851 | 202,238,576 | 31,726 |
ENST00000392246.7 | hg38 | chr2 | 202,206,182 | 202,238,597 | 32,416 |
ENST00000392245.5 | hg38 | chr2 | 202,206,187 | 202,238,599 | 32,413 |
ENST00000392244.7 | hg38 | chr2 | 202,206,768 | 202,238,566 | 31,799 |
ENST00000392246.7 | hg19 | chr2 | 203,070,905 | 203,103,320 | 32,416 |
ENST00000392245.5 | hg19 | chr2 | 203,070,910 | 203,103,322 | 32,413 |
ENST00000409368.5 | hg19 | chr2 | 203,071,373 | 203,103,317 | 31,945 |
ENST00000392244.7 | hg19 | chr2 | 203,071,491 | 203,103,289 | 31,799 |
ENST00000409712.5 | hg19 | chr2 | 203,071,574 | 203,103,299 | 31,726 |
ENST00000409181.1 | hg19 | chr2 | 203,071,593 | 203,103,292 | 31,700 |
ENST00000409498.6 | hg19 | chr2 | 203,071,731 | 203,103,309 | 31,579 |
ENST00000409205.5 | hg19 | chr2 | 203,071,754 | 203,103,185 | 31,432 |
Key | Value |
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strand | - |
start | 203,070,902 |
Gene Symbol | SUMO1 |
Entrez GeneId | 7,341 |
Chr Band | 2q33 |
end | 203,103,321 |
chr | chr2 |
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