BRSK2 BR serine/threonine kinase 2

Information
Symbol
BRSK2
Type
protein-coding
Description
BR serine/threonine kinase 2
Entrez Gene ID
9024
Genome
hg19
Position
chr11:1,432,382-1,482,975
Genome
hg38
Position
chr11:1,411,152-1,461,745
MIM
609236 OMIM
HGNC
HGNC:11405 HGNC
Ensembl
ENSG00000174672 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 16
Benign 0 42
Likely benign 0 152
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 164
Ranking
ClinVar
0
0
38
322
6
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 C11orf7
SYNONYM PEN11B
SYNONYM SAD-A
SYNONYM SAD1
SYNONYM SADA
SYNONYM STK29
MIM 609236 OMIM
HGNC HGNC:11405 HGNC
Ensembl ENSG00000174672 Ensembl
AllianceGenome HGNC:11405
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000382179.5 hg38 chr11 1,411,152 1,461,745 50,594
ENST00000528710.5 hg38 chr11 1,410,443 1,462,090 51,648
ENST00000308219.13 hg38 chr11 1,389,899 1,462,685 72,787
ENST00000544817.5 hg38 chr11 1,450,658 1,462,087 11,430
ENST00000531197.5 hg38 chr11 1,389,901 1,461,714 71,814
ENST00000528841.6 hg38 chr11 1,389,934 1,462,689 72,756
ENST00000526678.5 hg38 chr11 1,390,285 1,457,040 66,756
ENST00000308219.13 hg19 chr11 1,411,129 1,483,915 72,787
ENST00000531197.5 hg19 chr11 1,411,131 1,482,944 71,814
ENST00000528841.6 hg19 chr11 1,411,164 1,483,919 72,756
ENST00000526678.5 hg19 chr11 1,411,515 1,478,270 66,756
ENST00000528710.5 hg19 chr11 1,431,673 1,483,320 51,648
ENST00000382179.5 hg19 chr11 1,432,382 1,482,975 50,594
ENST00000544817.5 hg19 chr11 1,471,888 1,483,317 11,430
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