ELL elongation factor for RNA polymerase II

Information
Symbol
ELL
Type
protein-coding
Description
elongation factor for RNA polymerase II
Entrez Gene ID
8178
Genome
hg19
Position
chr19:18,553,473-18,632,880
Genome
hg38
Position
chr19:18,442,663-18,522,070
MIM
600284 OMIM
HGNC
HGNC:23114 HGNC
Ensembl
ENSG00000105656 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 8
Uncertain significance 0 68
Ranking
ClinVar
0
0
0
80
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
Category :
Search word :
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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 :
Filtering :
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 C19orf17
SYNONYM ELL1
SYNONYM MEN
SYNONYM PPP1R68
MIM 600284 OMIM
HGNC HGNC:23114 HGNC
Ensembl ENSG00000105656 Ensembl
AllianceGenome HGNC:23114
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000262809.9 hg38 chr19 18,442,663 18,522,070 79,408
ENST00000596124.3 hg38 chr19 18,444,751 18,475,933 31,183
ENST00000262809.9 hg19 chr19 18,553,473 18,632,880 79,408
ENST00000596124.3 hg19 chr19 18,555,561 18,586,743 31,183
KeyValue
strand-
UniProtOG
start18,553,472
Gene SymbolELL
Entrez GeneId8,178
Chr Band19p13.1
end18,632,936
chrchr19
NameELL gene (11-19 lysine-rich leukemia gene)
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