SF3B2 splicing factor 3b subunit 2

Information
Symbol
SF3B2
Type
protein-coding
Description
splicing factor 3b subunit 2
Entrez Gene ID
10992
Genome
hg19
Position
chr11:65,819,835-65,836,779
Genome
hg38
Position
chr11:66,052,364-66,069,308
MIM
605591 OMIM
HGNC
HGNC:10769 HGNC
Ensembl
ENSG00000087365 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 4
Benign 0 4
Likely benign 0 12
Uncertain significance 0 70
Ranking
ClinVar
0
0
2
82
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 :
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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 CFM
SYNONYM Cus1
SYNONYM HFM
SYNONYM SAP145
SYNONYM SF3B145
SYNONYM SF3b1
SYNONYM SF3b150
MIM 605591 OMIM
HGNC HGNC:10769 HGNC
Ensembl ENSG00000087365 Ensembl
AllianceGenome HGNC:10769
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000322535.11 hg38 chr11 66,052,364 66,069,308 16,945
ENST00000528302.5 hg38 chr11 66,052,331 66,069,308 16,978
ENST00000528302.5 hg19 chr11 65,819,802 65,836,779 16,978
ENST00000322535.11 hg19 chr11 65,819,835 65,836,779 16,945
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