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SF3B2 (splicing factor 3b subunit 2)

Identity

Alias_namessplicing factor 3b, subunit 2, 145kD
splicing factor 3b, subunit 2, 145kDa
Alias_symbol (synonym)SAP145
SF3b1
Cus1
SF3b145
Other aliasSF3B145
SF3b150
HGNC (Hugo) SF3B2
LocusID (NCBI) 10992
Atlas_Id 55690
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 66052345 and ends at 66068911 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GSTP1 (11q13.2) / SF3B2 (11q13.1)HSPBP1 (19q13.42) / SF3B2 (11q13.1)IVNS1ABP (1q25.3) / SF3B2 (11q13.1)
MRPS15 (1p34.3) / SF3B2 (11q13.1)MYL6 (12q13.2) / SF3B2 (11q13.1)SF3B2 (11q13.1) / PRCC (1q23.1)
SF3B2 (11q13.1) / PTMA (2q37.1)SF3B2 (11q13.1) / PTPN22 (1p13.2)SF3B2 (11q13.1) / SART1 (11q13.1)
SF3B2 (11q13.1) / SCAF4 (21q22.11)SF3B2 (11q13.1) / SF3B2 (11q13.1)SF3B2 (11q13.1) / ZGPAT (20q13.33)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SF3B2   10769
Cards
Entrez_Gene (NCBI)SF3B2  10992  splicing factor 3b subunit 2
AliasesCus1; SAP145; SF3B145; SF3b1; 
SF3b150
GeneCards (Weizmann)SF3B2
Ensembl hg19 (Hinxton)ENSG00000087365 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087365 [Gene_View]  chr11:66052345-66068911 [Contig_View]  SF3B2 [Vega]
ICGC DataPortalENSG00000087365
TCGA cBioPortalSF3B2
AceView (NCBI)SF3B2
Genatlas (Paris)SF3B2
WikiGenes10992
SOURCE (Princeton)SF3B2
Genetics Home Reference (NIH)SF3B2
Genomic and cartography
GoldenPath hg38 (UCSC)SF3B2  -     chr11:66052345-66068911 +  11q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SF3B2  -     11q13.1   [Description]    (hg19-Feb_2009)
EnsemblSF3B2 - 11q13.1 [CytoView hg19]  SF3B2 - 11q13.1 [CytoView hg38]
Mapping of homologs : NCBISF3B2 [Mapview hg19]  SF3B2 [Mapview hg38]
OMIM605591   
Gene and transcription
Genbank (Entrez)AK092510 AK126488 AK290850 AK300016 BC000401
RefSeq transcript (Entrez)NM_006842
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SF3B2
Cluster EST : UnigeneHs.406423 [ NCBI ]
CGAP (NCI)Hs.406423
Alternative Splicing GalleryENSG00000087365
Gene ExpressionSF3B2 [ NCBI-GEO ]   SF3B2 [ EBI - ARRAY_EXPRESS ]   SF3B2 [ SEEK ]   SF3B2 [ MEM ]
Gene Expression Viewer (FireBrowse)SF3B2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10992
GTEX Portal (Tissue expression)SF3B2
Human Protein AtlasENSG00000087365-SF3B2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13435   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13435  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13435
Splice isoforms : SwissVarQ13435
PhosPhoSitePlusQ13435
Domaine pattern : Prosite (Expaxy)SAP (PS50800)   
Domains : Interpro (EBI)DUF382    PSP_pro-rich    SAP_dom   
Domain families : Pfam (Sanger)DUF382 (PF04037)    PSP (PF04046)    SAP (PF02037)   
Domain families : Pfam (NCBI)pfam04037    pfam04046    pfam02037   
Domain families : Smart (EMBL)PSP (SM00581)  SAP (SM00513)  
Conserved Domain (NCBI)SF3B2
DMDM Disease mutations10992
Blocks (Seattle)SF3B2
PDB (SRS)2DO5   
PDB (PDBSum)2DO5   
PDB (IMB)2DO5   
PDB (RSDB)2DO5   
Structural Biology KnowledgeBase2DO5   
SCOP (Structural Classification of Proteins)2DO5   
CATH (Classification of proteins structures)2DO5   
SuperfamilyQ13435
Human Protein Atlas [tissue]ENSG00000087365-SF3B2 [tissue]
Peptide AtlasQ13435
HPRD10410
IPIIPI00221106   IPI00477803   IPI00978402   IPI00976909   IPI00975674   IPI00976190   IPI00977486   IPI00980249   
Protein Interaction databases
DIP (DOE-UCLA)Q13435
IntAct (EBI)Q13435
FunCoupENSG00000087365
BioGRIDSF3B2
STRING (EMBL)SF3B2
ZODIACSF3B2
Ontologies - Pathways
QuickGOQ13435
Ontology : AmiGOmRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleoplasm  spliceosomal complex  U2-type spliceosomal complex  U2 snRNP  U12-type spliceosomal complex  mRNA processing  RNA splicing  viral process  precatalytic spliceosome  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleoplasm  spliceosomal complex  U2-type spliceosomal complex  U2 snRNP  U12-type spliceosomal complex  mRNA processing  RNA splicing  viral process  precatalytic spliceosome  catalytic step 2 spliceosome  
Pathways : KEGGSpliceosome   
NDEx NetworkSF3B2
Atlas of Cancer Signalling NetworkSF3B2
Wikipedia pathwaysSF3B2
Orthology - Evolution
OrthoDB10992
GeneTree (enSembl)ENSG00000087365
Phylogenetic Trees/Animal Genes : TreeFamSF3B2
HOVERGENQ13435
HOGENOMQ13435
Homologs : HomoloGeneSF3B2
Homology/Alignments : Family Browser (UCSC)SF3B2
Gene fusions - Rearrangements
Tumor Fusion PortalSF3B2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSF3B2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SF3B2
dbVarSF3B2
ClinVarSF3B2
=a href=../extdef.html#1000G TARGET=1000Genomes>1000_GenomesSF3B2 
Exome Variant ServerSF3B2
ExAC (Exome Aggregation Consortium)ENSG00000087365
GNOMAD BrowserENSG00000087365
Genetic variants : HAPMAP10992
Genomic Variants (DGV)SF3B2 [DGVbeta]
DECIPHERSF3B2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSF3B2 
Mutations
ICGC Data PortalSF3B2 
TCGA Data PortalSF3B2 
Broad Tumor PortalSF3B2
OASIS PortalSF3B2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSF3B2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSF3B2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SF3B2
DgiDB (Drug Gene Interaction Database)SF3B2
DoCM (Curated mutations)SF3B2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SF3B2 (select a term)
intoGenSF3B2
Cancer3DSF3B2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605591   
Orphanet
DisGeNETSF3B2
MedgenSF3B2
Genetic Testing Registry SF3B2
NextProtQ13435 [Medical]
TSGene10992
GENETestsSF3B2
Target ValidationSF3B2
Huge Navigator SF3B2 [HugePedia]
snp3D : Map Gene to Disease10992
BioCentury BCIQSF3B2
ClinGenSF3B2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10992
Chemical/Pharm GKB GenePA35687
Clinical trialSF3B2
Miscellaneous
canSAR (ICR)SF3B2 (select the gene name)
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSF3B2
EVEXSF3B2
GoP§bMed|/A<SF3B2
iHOPSF3B2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:34:19 CET 2017

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