PSMD14 proteasome 26S subunit, non-ATPase 14
Information
- Symbol
- PSMD14
- Type
- protein-coding
- Description
- proteasome 26S subunit, non-ATPase 14
- Entrez Gene ID
- 10213
- Genome
- hg19
- Position
- chr2:162,164,936-162,268,228
- Genome
- hg38
- Position
- chr2:161,308,425-161,411,717
- MIM
- 607173 OMIM
- HGNC
- HGNC:16889 HGNC
- Ensembl
- ENSG00000115233 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Uncertain significance | 0 | 8 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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10 |
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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 |
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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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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 | PAD1 |
SYNONYM | POH1 |
SYNONYM | RPN11 |
MIM | 607173 OMIM |
HGNC | HGNC:16889 HGNC |
Ensembl | ENSG00000115233 Ensembl |
AllianceGenome | HGNC:16889 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000409682.8 | hg38 | chr2 | 161,308,425 | 161,411,717 | 103,293 |
ENST00000409682.8 | hg19 | chr2 | 162,164,936 | 162,268,228 | 103,293 |
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