KMT5B lysine methyltransferase 5B

Information
Symbol
KMT5B
Type
protein-coding
Description
lysine methyltransferase 5B
Entrez Gene ID
51111
Genome
hg19
Position
chr11:67,922,330-67,980,763
Genome
hg38
Position
chr11:68,154,863-68,213,296
MIM
610881 OMIM
HGNC
HGNC:24283 HGNC
Ensembl
ENSG00000110066 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 40
Likely pathogenic 0 46
Benign 0 20
Likely benign 0 64
Conflicting classifications of pathogenicity 0 4
not provided 0 2
Uncertain significance 0 160
Ranking
ClinVar
0
0
36
262
20
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 CGI-85
SYNONYM CGI85
SYNONYM MRD51
SYNONYM SUV420H1
MIM 610881 OMIM
HGNC HGNC:24283 HGNC
Ensembl ENSG00000110066 Ensembl
AllianceGenome HGNC:24283
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000402185.6 hg38 chr11 68,166,407 68,213,601 47,195
ENST00000304363.9 hg38 chr11 68,154,863 68,213,296 58,434
ENST00000405515.5 hg38 chr11 68,165,715 68,213,828 48,114
ENST00000402789.5 hg38 chr11 68,165,719 68,213,595 47,877
ENST00000401547.6 hg38 chr11 68,165,715 68,213,286 47,572
ENST00000615954.4 hg38 chr11 68,156,040 68,190,076 34,037
ENST00000700523.1 hg38 chr11 68,157,118 68,213,635 56,518
ENST00000453170.6 hg38 chr11 68,156,671 68,213,317 56,647
ENST00000304363.9 hg19 chr11 67,922,330 67,980,763 58,434
ENST00000453170.6 hg19 chr11 67,924,138 67,980,784 56,647
ENST00000402185.6 hg19 chr11 67,933,874 67,981,068 47,195
ENST00000401547.6 hg19 chr11 67,933,182 67,980,753 47,572
ENST00000405515.5 hg19 chr11 67,933,182 67,981,295 48,114
ENST00000402789.5 hg19 chr11 67,933,186 67,981,062 47,877
ENST00000615954.4 hg19 chr11 67,923,507 67,957,543 34,037
ENST00000700523.1 hg19 chr11 67,924,585 67,981,102 56,518
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