EMSY EMSY transcriptional repressor, BRCA2 interacting

Information
Symbol
EMSY
Type
protein-coding
Description
EMSY transcriptional repressor, BRCA2 interacting
Entrez Gene ID
56946
Genome
hg19
Position
chr11:76,156,062-76,264,075
Genome
hg38
Position
chr11:76,445,018-76,553,031
MIM
608574 OMIM
HGNC
HGNC:18071 HGNC
Ensembl
ENSG00000158636 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 16
Likely benign 0 2
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
36
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 C11orf30
SYNONYM GL002
MIM 608574 OMIM
HGNC HGNC:18071 HGNC
Ensembl ENSG00000158636 Ensembl
AllianceGenome HGNC:18071
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000525038.5 hg38 chr11 76,446,900 76,550,511 103,612
ENST00000695367.1 hg38 chr11 76,445,018 76,553,031 108,014
ENST00000334736.7 hg38 chr11 76,445,025 76,551,542 106,518
ENST00000533988.5 hg38 chr11 76,445,022 76,453,931 8,910
ENST00000533248.5 hg38 chr11 76,446,900 76,550,209 103,310
ENST00000524490.5 hg38 chr11 76,445,025 76,550,343 105,319
ENST00000525919.5 hg38 chr11 76,446,900 76,550,209 103,310
ENST00000524767.5 hg38 chr11 76,446,900 76,550,209 103,310
ENST00000529032.5 hg38 chr11 76,446,939 76,553,025 106,087
ENST00000524490.5 hg19 chr11 76,156,069 76,261,387 105,319
ENST00000334736.7 hg19 chr11 76,156,069 76,262,586 106,518
ENST00000524767.5 hg19 chr11 76,157,944 76,261,253 103,310
ENST00000525919.5 hg19 chr11 76,157,944 76,261,253 103,310
ENST00000525038.5 hg19 chr11 76,157,944 76,261,555 103,612
ENST00000529032.5 hg19 chr11 76,157,983 76,264,069 106,087
ENST00000533248.5 hg19 chr11 76,157,944 76,261,253 103,310
ENST00000533988.5 hg19 chr11 76,156,066 76,164,975 8,910
ENST00000695367.1 hg19 chr11 76,156,062 76,264,075 108,014
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