UBE2E1 ubiquitin conjugating enzyme E2 E1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: UBE2E1
Type: protein-coding
Description: ubiquitin conjugating enzyme E2 E1
Entrez Gene ID: 7324
Genome: hg19
Position: chr3:23,847,446-23,933,131
Genome: hg38
Position: chr3:23,805,955-23,891,640
MIM: 602916 OMIM
HGNC: HGNC:12477 HGNC
Ensembl: ENSG00000170142 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	4
Likely benign	0	2
Uncertain significance	0	6

Ranking

	ClinVar
	0
	0
	2
	8
	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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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	UBCH6
MIM	602916 OMIM
HGNC	HGNC:12477 HGNC
Ensembl	ENSG00000170142 Ensembl
AllianceGenome	HGNC:12477

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000346855.7	hg38	chr3	23,805,965	23,891,316	85,352
ENST00000467766.5	hg38	chr3	23,810,443	23,889,426	78,984
ENST00000424381.5	hg38	chr3	23,810,443	23,891,314	80,872
ENST00000306627.8	hg38	chr3	23,805,955	23,891,640	85,686
ENST00000306627.8	hg19	chr3	23,847,446	23,933,131	85,686
ENST00000346855.7	hg19	chr3	23,847,456	23,932,807	85,352
ENST00000467766.5	hg19	chr3	23,851,934	23,930,917	78,984
ENST00000424381.5	hg19	chr3	23,851,934	23,932,805	80,872

Key	Value
strand	+
start	23,847,383
Gene Symbol	UBE2E1
Entrez GeneId	7,324
Chr Band	3p24.2
end	23,933,130
chr	chr3

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