POLR2E RNA polymerase II, I and III subunit E

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
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
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
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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
Entry Origin Type Annotation
TypeID
SYNONYM RPABC1
SYNONYM RPB5
SYNONYM XAP4
SYNONYM hRPB25
SYNONYM hsRPB5
MIM 180664 OMIM
HGNC HGNC:9192 HGNC
Ensembl ENSG00000099817 Ensembl
AllianceGenome HGNC:9192
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
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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