UBE4A ubiquitination factor E4A

Information
Symbol
UBE4A
Type
protein-coding
Description
ubiquitination factor E4A
Entrez Gene ID
9354
Genome
hg19
Position
chr11:118,230,359-118,269,922
Genome
hg38
Position
chr11:118,359,644-118,399,207
MIM
603753 OMIM
HGNC
HGNC:12499 HGNC
Ensembl
ENSG00000110344 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 6
Benign 0 4
Likely benign 0 8
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 88
Ranking
ClinVar
0
0
4
106
4
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 :
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 E4
SYNONYM NEDHMS
SYNONYM UBOX2
SYNONYM UFD2
MIM 603753 OMIM
HGNC HGNC:12499 HGNC
Ensembl ENSG00000110344 Ensembl
AllianceGenome HGNC:12499
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000431736.6 hg38 chr11 118,359,644 118,399,207 39,564
ENST00000252108.8 hg38 chr11 118,359,600 118,399,211 39,612
ENST00000545354.1 hg38 chr11 118,378,501 118,396,507 18,007
ENST00000252108.8 hg19 chr11 118,230,315 118,269,926 39,612
ENST00000431736.6 hg19 chr11 118,230,359 118,269,922 39,564
ENST00000545354.1 hg19 chr11 118,249,216 118,267,222 18,007
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