BAP1 BRCA1 associated protein 1

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

Symbol: BAP1
Type: protein-coding
Description: BRCA1 associated protein 1
Entrez Gene ID: 8314
Genome: hg19
Position: chr3:52,435,024-52,444,024
Genome: hg38
Position: chr3:52,401,008-52,410,008
MIM: 603089 OMIM
HGNC: HGNC:950 HGNC
Ensembl: ENSG00000163930 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	2	468
Likely pathogenic	1	166
Benign	7	112
Likely benign	23	2,092
Conflicting classifications of pathogenicity	0	284
not provided	488	4
Uncertain significance	12	2,476

Ranking

	ClinVar
	0
	0
	2,144
	3,030
	32

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	HUCEP-13
SYNONYM	KURIS
SYNONYM	TPDS1
SYNONYM	UBM2
SYNONYM	UCHL2
SYNONYM	UVM2
SYNONYM	hucep-6
MIM	603089 OMIM
HGNC	HGNC:950 HGNC
Ensembl	ENSG00000163930 Ensembl
AllianceGenome	HGNC:950

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000615113.1	hg38	chr3	52,401,673	52,402,161	489
ENST00000460680.6	hg38	chr3	52,401,008	52,410,008	9,001
ENST00000296288.9	hg38	chr3	52,401,026	52,409,914	8,889
ENST00000460680.6	hg19	chr3	52,435,024	52,444,024	9,001
ENST00000296288.9	hg19	chr3	52,435,042	52,443,930	8,889
ENST00000615113.1	hg19	chr3	52,435,689	52,436,177	489

Key	Value
strand	-
start	52,435,019
Vogelstein	TSG
Gene Symbol	BAP1
Entrez GeneId	8,314
Chr Band	3p21.31-p21.2
end	52,444,120
chr	chr3
Name	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)

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