PSMB8 proteasome 20S subunit beta 8

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

Symbol: PSMB8
Type: protein-coding
Description: proteasome 20S subunit beta 8
Entrez Gene ID: 5696
Genome: hg19
Position: chr6:32,808,494-32,811,824
Genome: hg38
Position: chr6:32,840,717-32,844,047
MIM: 177046 OMIM
HGNC: HGNC:9545 HGNC
Ensembl: ENSG00000204264 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	2	26
Likely pathogenic	0	6
Benign	0	38
Likely benign	0	118
Conflicting classifications of pathogenicity	0	20
not provided	6	0
Uncertain significance	0	224

Ranking

	ClinVar
	0
	0
	64
	328
	8

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

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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

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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
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
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	ALDD
SYNONYM	D6S216
SYNONYM	D6S216E
SYNONYM	JMP
SYNONYM	LMP7
SYNONYM	NKJO
SYNONYM	PRAAS1
SYNONYM	PSMB5i
SYNONYM	RING10
MIM	177046 OMIM
HGNC	HGNC:9545 HGNC
Ensembl	ENSG00000204264 Ensembl
AllianceGenome	HGNC:9545

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000395339.7	hg38	chr6	32,840,717	32,844,020	3,304
ENST00000374882.8	hg38	chr6	32,840,717	32,844,047	3,331
ENST00000374881.3	hg38	chr6	32,840,717	32,844,679	3,963
ENST00000395339.7	hg19	chr6	32,808,494	32,811,797	3,304
ENST00000374882.8	hg19	chr6	32,808,494	32,811,824	3,331
ENST00000374881.3	hg19	chr6	32,808,494	32,812,456	3,963

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