POLR2E RNA polymerase II, I and III subunit E

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

Symbol: POLR2E
Type: protein-coding
Description: RNA polymerase II, I and III subunit E
Entrez Gene ID: 5434
Genome: hg19
Position: chr19:1,086,573-1,095,374
Genome: hg38
Position: chr19:1,086,574-1,095,375
MIM: 180664 OMIM
HGNC: HGNC:9192 HGNC
Ensembl: ENSG00000099817 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Benign	0	2
Likely benign	0	2
Uncertain significance	0	18

Ranking

	ClinVar
	0
	0
	0
	22
	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
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	RPABC1
SYNONYM	RPB5
SYNONYM	XAP4
SYNONYM	hRPB25
SYNONYM	hsRPB5
MIM	180664 OMIM
HGNC	HGNC:9192 HGNC
Ensembl	ENSG00000099817 Ensembl
AllianceGenome	HGNC:9192

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000619917.4	hg38	chr19	1,088,388	1,095,366	6,979
ENST00000586746.5	hg38	chr19	1,086,579	1,095,354	8,776
ENST00000612655.4	hg38	chr19	1,087,645	1,095,380	7,736
ENST00000615234.5	hg38	chr19	1,086,574	1,095,375	8,802
ENST00000615234.5	hg19	chr19	1,086,573	1,095,374	8,802
ENST00000586746.5	hg19	chr19	1,086,578	1,095,353	8,776
ENST00000612655.4	hg19	chr19	1,087,644	1,095,379	7,736
ENST00000619917.4	hg19	chr19	1,088,387	1,095,365	6,979

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