PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2
Information
- Symbol
- PSMD2
- Type
- protein-coding
- Description
- proteasome 26S subunit ubiquitin receptor, non-ATPase 2
- Entrez Gene ID
- 5708
- Genome
- hg19
- Position
- chr3:184,017,029-184,026,838
- Genome
- hg38
- Position
- chr3:184,299,241-184,309,050
- MIM
- 606223 OMIM
- HGNC
- HGNC:9559 HGNC
- Ensembl
- ENSG00000175166 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 1 | 0 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 62 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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64 |
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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
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
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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Category | : |
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Search word | : | |
Filtering | : |
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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | P97 |
SYNONYM | RPN1 |
SYNONYM | S2 |
SYNONYM | TRAP2 |
MIM | 606223 OMIM |
HGNC | HGNC:9559 HGNC |
Ensembl | ENSG00000175166 Ensembl |
AllianceGenome | HGNC:9559 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000310118.9 | hg38 | chr3 | 184,299,241 | 184,309,050 | 9,810 |
ENST00000439383.5 | hg38 | chr3 | 184,300,581 | 184,309,048 | 8,468 |
ENST00000435761.5 | hg38 | chr3 | 184,300,581 | 184,309,000 | 8,420 |
ENST00000310118.9 | hg19 | chr3 | 184,017,029 | 184,026,838 | 9,810 |
ENST00000435761.5 | hg19 | chr3 | 184,018,369 | 184,026,788 | 8,420 |
ENST00000439383.5 | hg19 | chr3 | 184,018,369 | 184,026,836 | 8,468 |
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