UBE3B ubiquitin protein ligase E3B

Information
Symbol
UBE3B
Type
protein-coding
Description
ubiquitin protein ligase E3B
Entrez Gene ID
89910
Genome
hg19
Position
chr12:109,915,439-109,974,507
Genome
hg38
Position
chr12:109,477,634-109,536,702
MIM
608047 OMIM
HGNC
HGNC:13478 HGNC
Ensembl
ENSG00000151148 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 78
Likely pathogenic 0 34
Benign 0 82
Likely benign 0 296
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 298
Ranking
ClinVar
0
0
92
670
12
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 BPIDS
SYNONYM KOS
MIM 608047 OMIM
HGNC HGNC:13478 HGNC
Ensembl ENSG00000151148 Ensembl
AllianceGenome HGNC:13478
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000540230.5 hg38 chr12 109,477,653 109,491,149 13,497
ENST00000536398.5 hg38 chr12 109,477,635 109,490,722 13,088
ENST00000537063.1 hg38 chr12 109,477,655 109,492,737 15,083
ENST00000342494.8 hg38 chr12 109,477,634 109,536,702 59,069
ENST00000434735.6 hg38 chr12 109,477,402 109,536,705 59,304
ENST00000340074.9 hg38 chr12 109,477,652 109,490,722 13,071
ENST00000434735.6 hg19 chr12 109,915,207 109,974,510 59,304
ENST00000342494.8 hg19 chr12 109,915,439 109,974,507 59,069
ENST00000536398.5 hg19 chr12 109,915,440 109,928,527 13,088
ENST00000340074.9 hg19 chr12 109,915,457 109,928,527 13,071
ENST00000540230.5 hg19 chr12 109,915,458 109,928,954 13,497
ENST00000537063.1 hg19 chr12 109,915,460 109,930,542 15,083
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