EP400 E1A binding protein p400

Information
Symbol
EP400
Type
protein-coding
Description
E1A binding protein p400
Entrez Gene ID
57634
Genome
hg19
Position
chr12:132,434,487-132,565,005
Genome
hg38
Position
chr12:131,949,942-132,080,460
MIM
606265 OMIM
HGNC
HGNC:11958 HGNC
Ensembl
ENSG00000183495 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 90
Likely benign 0 222
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 398
Ranking
ClinVar
0
0
48
638
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
Category :
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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 CAGH32
SYNONYM P400
SYNONYM TNRC12
MIM 606265 OMIM
HGNC HGNC:11958 HGNC
Ensembl ENSG00000183495 Ensembl
AllianceGenome HGNC:11958
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000333577.8 hg38 chr12 131,949,971 131,995,012 45,042
ENST00000389561.7 hg38 chr12 131,949,942 132,080,460 130,519
ENST00000389561.7 hg19 chr12 132,434,487 132,565,005 130,519
ENST00000333577.8 hg19 chr12 132,434,516 132,479,557 45,042
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