USP6 ubiquitin specific peptidase 6

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: USP6
Type: protein-coding
Description: ubiquitin specific peptidase 6
Entrez Gene ID: 9098
Genome: hg19
Position: chr17:5,019,327-5,078,286
Genome: hg38
Position: chr17:5,116,032-5,174,991
MIM: 604334 OMIM
HGNC: HGNC:12629 HGNC
Ensembl: ENSG00000129204 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	12
Likely benign	0	16
Uncertain significance	0	134

Ranking

	ClinVar
	0
	0
	0
	162
	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

Search Word

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
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	HRP1
SYNONYM	TRE17
SYNONYM	TRE2
SYNONYM	TRESMCR
SYNONYM	Tre-2
SYNONYM	USP6-short
MIM	604334 OMIM
HGNC	HGNC:12629 HGNC
Ensembl	ENSG00000129204 Ensembl
AllianceGenome	HGNC:12629

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000250066.6	hg38	chr17	5,128,392	5,175,034	46,643
ENST00000574788.6	hg38	chr17	5,116,032	5,174,991	58,960
ENST00000574788.6	hg19	chr17	5,019,327	5,078,286	58,960
ENST00000250066.6	hg19	chr17	5,031,687	5,078,329	46,643

Key	Value
strand	+
UniProt	OG
start	5,019,732
Gene Symbol	USP6
Entrez GeneId	9,098
Chr Band	17p13
end	5,078,325
chr	chr17
Name	ubiquitin specific peptidase 6 (Tre-2 oncogene)

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