PSMC3 proteasome 26S subunit, ATPase 3

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: PSMC3
Type: protein-coding
Description: proteasome 26S subunit, ATPase 3
Entrez Gene ID: 5702
Genome: hg19
Position: chr11:47,440,326-47,447,990
Genome: hg38
Position: chr11:47,418,775-47,426,439
MIM: 186852 OMIM
HGNC: HGNC:9549 HGNC
Ensembl: ENSG00000165916 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	4
Likely pathogenic	0	2
Likely benign	0	12
Uncertain significance	0	16

Ranking

	ClinVar
	0
	0
	0
	32
	2

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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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
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	DCIDP
SYNONYM	RPT5
SYNONYM	TBP1
MIM	186852 OMIM
HGNC	HGNC:9549 HGNC
Ensembl	ENSG00000165916 Ensembl
AllianceGenome	HGNC:9549

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000619920.4	hg38	chr11	47,418,769	47,426,473	7,705
ENST00000530912.5	hg38	chr11	47,418,802	47,426,442	7,641
ENST00000602866.5	hg38	chr11	47,418,769	47,426,266	7,498
ENST00000298852.8	hg38	chr11	47,418,775	47,426,439	7,665
ENST00000602866.5	hg19	chr11	47,440,320	47,447,817	7,498
ENST00000619920.4	hg19	chr11	47,440,320	47,448,024	7,705
ENST00000298852.8	hg19	chr11	47,440,326	47,447,990	7,665
ENST00000530912.5	hg19	chr11	47,440,353	47,447,993	7,641

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