E2F1 E2F transcription factor 1

Information
Symbol
E2F1
Type
protein-coding
Description
E2F transcription factor 1
Entrez Gene ID
1869
Genome
hg19
Position
chr20:32,263,283-32,274,191
Genome
hg38
Position
chr20:33,675,477-33,686,385
MIM
189971 OMIM
HGNC
HGNC:3113 HGNC
Ensembl
ENSG00000101412 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 18
Likely benign 0 16
not provided 1 0
Uncertain significance 0 22
Ranking
ClinVar
0
0
4
50
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 E2F-1
SYNONYM RBAP1
SYNONYM RBBP3
SYNONYM RBP3
MIM 189971 OMIM
HGNC HGNC:3113 HGNC
Ensembl ENSG00000101412 Ensembl
AllianceGenome HGNC:3113
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000343380.6 hg38 chr20 33,675,477 33,686,385 10,909
ENST00000343380.6 hg19 chr20 32,263,283 32,274,191 10,909
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