Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SF3B1 (splicing factor 3b subunit 1)

Identity

Alias_namessplicing factor 3b, subunit 1, 155kD
splicing factor 3b, subunit 1, 155kDa
Alias_symbol (synonym)SAP155
SF3b155
PRPF10
Prp10
Hsh155
Other aliasMDS
PRP10
HGNC (Hugo) SF3B1
LocusID (NCBI) 23451
Atlas_Id 52653
Location 2q33.1  [Link to chromosome band 2q33]
Location_base_pair Starts at 197389785 and ends at 197435028 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)
ENY2 (8q23.1) / SF3B1 (2q33.1)MFSD14B (9q22.32) / SF3B1 (2q33.1)NCOR1 (17p12) / SF3B1 (2q33.1)
SF3B1 (2q33.1) / FCER1G (1q23.3)SF3B1 (2q33.1) / KIAA1191 (5q35.2)SF3B1 (2q33.1) / SF3B1 (2q33.1)
SF3B1 (2q33.1) / UQCC3 (11q12.3)

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 8 ]
  Acute myeloid leukemia with myelodysplasia related changes
Classification of myelodysplastic syndromes 2015
Chronic Myelomonocytic Leukemia (CMML)
Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)
Myelodysplastic/myeloproliferative neoplasms
Myelodysplastic syndrome with excess blasts
t(2;9)(q33;q22) ERCC6L2/SF3B1
t(2;11)(q33;q13) SF1/SF3B1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  SF3B1/RFTN2 (2q33)

External links

Nomenclature
HGNC (Hugo)SF3B1   10768
LRG (Locus Reference Genomic)LRG_624
Cards
Entrez_Gene (NCBI)SF3B1  23451  splicing factor 3b subunit 1
AliasesHsh155; MDS; PRP10; PRPF10; 
SAP155; SF3b155
GeneCards (Weizmann)SF3B1
Ensembl hg19 (Hinxton)ENSG00000115524 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115524 [Gene_View]  ENSG00000115524 [Sequence]  chr2:197389785-197435028 [Contig_View]  SF3B1 [Vega]
ICGC DataPortalENSG00000115524
TCGA cBioPortalSF3B1
AceView (NCBI)SF3B1
Genatlas (Paris)SF3B1
WikiGenes23451
SOURCE (Princeton)SF3B1
Genetics Home Reference (NIH)SF3B1
Genomic and cartography
GoldenPath hg38 (UCSC)SF3B1  -     chr2:197389785-197435028 -  2q33.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SF3B1  -     2q33.1   [Description]    (hg19-Feb_2009)
GoldenPathSF3B1 - 2q33.1 [CytoView hg19]  SF3B1 - 2q33.1 [CytoView hg38]
Genome Data Viewer NCBISF3B1 [Mapview hg19]  
OMIM605590   614286   
Gene and transcription
Genbank (Entrez)AF054284 AF070540 AF086296 AK057684 AK290470
RefSeq transcript (Entrez)NM_001005526 NM_001308824 NM_012433
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SF3B1
Alternative Splicing GalleryENSG00000115524
Gene ExpressionSF3B1 [ NCBI-GEO ]   SF3B1 [ EBI - ARRAY_EXPRESS ]   SF3B1 [ SEEK ]   SF3B1 [ MEM ]
Gene Expression Viewer (FireBrowse)SF3B1 [ Firebrowse - Broad ]
GenevisibleExpression of SF3B1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23451
GTEX Portal (Tissue expression)SF3B1
Human Protein AtlasENSG00000115524-SF3B1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75533   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75533  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75533
Splice isoforms : SwissVarO75533
PhosPhoSitePlusO75533
Domains : Interpro (EBI)ARM-like    ARM-type_fold    SF3b_su1    SF3b_su1-like   
Domain families : Pfam (Sanger)SF3b1 (PF08920)   
Domain families : Pfam (NCBI)pfam08920   
Conserved Domain (NCBI)SF3B1
DMDM Disease mutations23451
PDB (RSDB)2F9D    2F9J    2FHO    2PEH    3LQV    4OZ1    5IFE    5O9Z    5Z56    5Z57    5Z58    5ZYA    6AH0    6EN4    6FF4    6FF7    6N3E    6QX9   
PDB Europe2F9D    2F9J    2FHO    2PEH    3LQV    4OZ1    5IFE    5O9Z    5Z56    5Z57    5Z58    5ZYA    6AH0    6EN4    6FF4    6FF7    6N3E    6QX9   
PDB (PDBSum)2F9D    2F9J    2FHO    2PEH    3LQV    4OZ1    5IFE    5O9Z    5Z56    5Z57    5Z58    5ZYA    6AH0    6EN4    6FF4    6FF7    6N3E    6QX9   
PDB (IMB)2F9D    2F9J    2FHO    2PEH    3LQV    4OZ1    5IFE    5O9Z    5Z56    5Z57    5Z58    5ZYA    6AH0    6EN4    6FF4    6FF7    6N3E    6QX9   
Structural Biology KnowledgeBase2F9D    2F9J    2FHO    2PEH    3LQV    4OZ1    5IFE    5O9Z    5Z56    5Z57    5Z58    5ZYA    6AH0    6EN4    6FF4    6FF7    6N3E    6QX9   
SCOP (Structural Classification of Proteins)2F9D    2F9J    2FHO    2PEH    3LQV    4OZ1    5IFE    5O9Z    5Z56    5Z57    5Z58    5ZYA    6AH0    6EN4    6FF4    6FF7    6N3E    6QX9   
CATH (Classification of proteins structures)2F9D    2F9J    2FHO    2PEH    3LQV    4OZ1    5IFE    5O9Z    5Z56    5Z57    5Z58    5ZYA    6AH0    6EN4    6FF4    6FF7    6N3E    6QX9   
SuperfamilyO75533
Human Protein Atlas [tissue]ENSG00000115524-SF3B1 [tissue]
Peptide AtlasO75533
HPRD09281
IPIIPI00026089   IPI00917674   IPI00479561   IPI00917430   IPI01011024   
Protein Interaction databases
DIP (DOE-UCLA)O75533
IntAct (EBI)O75533
FunCoupENSG00000115524
BioGRIDSF3B1
STRING (EMBL)SF3B1
ZODIACSF3B1
Ontologies - Pathways
QuickGOO75533
Ontology : AmiGOspliceosomal complex assembly  RNA splicing, via transesterification reactions  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  RNA binding  mRNA binding  protein binding  nucleus  nucleoplasm  spliceosomal complex  U2 snRNP  U2 snRNP  U12-type spliceosomal complex  U12-type spliceosomal complex  RNA splicing  nuclear speck  U11/U12 snRNP  positive regulation of gene expression, epigenetic  U2-type prespliceosome  U2-type precatalytic spliceosome  catalytic step 2 spliceosome  catalytic step 2 spliceosome  splicing factor binding  
Ontology : EGO-EBIspliceosomal complex assembly  RNA splicing, via transesterification reactions  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  RNA binding  mRNA binding  protein binding  nucleus  nucleoplasm  spliceosomal complex  U2 snRNP  U2 snRNP  U12-type spliceosomal complex  U12-type spliceosomal complex  RNA splicing  nuclear speck  U11/U12 snRNP  positive regulation of gene expression, epigenetic  U2-type prespliceosome  U2-type precatalytic spliceosome  catalytic step 2 spliceosome  catalytic step 2 spliceosome  splicing factor binding  
Pathways : KEGGSpliceosome   
NDEx NetworkSF3B1
Atlas of Cancer Signalling NetworkSF3B1
Wikipedia pathwaysSF3B1
Orthology - Evolution
OrthoDB23451
GeneTree (enSembl)ENSG00000115524
Phylogenetic Trees/Animal Genes : TreeFamSF3B1
HOGENOMO75533
Homologs : HomoloGeneSF3B1
Homology/Alignments : Family Browser (UCSC)SF3B1
Gene fusions - Rearrangements
Fusion : QuiverSF3B1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSF3B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SF3B1
dbVarSF3B1
ClinVarSF3B1
1000_GenomesSF3B1 
Exome Variant ServerSF3B1
GNOMAD BrowserENSG00000115524
Varsome BrowserSF3B1
Genetic variants : HAPMAP23451
Genomic Variants (DGV)SF3B1 [DGVbeta]
DECIPHERSF3B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSF3B1 
Mutations
ICGC Data PortalSF3B1 
TCGA Data PortalSF3B1 
Broad Tumor PortalSF3B1
OASIS PortalSF3B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSF3B1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSF3B1
Mutations and Diseases : HGMDSF3B1
intOGen PortalSF3B1
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
BioMutaselect SF3B1
DgiDB (Drug Gene Interaction Database)SF3B1
DoCM (Curated mutations)SF3B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SF3B1 (select a term)
intoGenSF3B1
Cancer3DSF3B1 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605590    614286   
Orphanet11088    10453   
DisGeNETSF3B1
MedgenSF3B1
Genetic Testing Registry SF3B1
NextProtO75533 [Medical]
TSGene23451
GENETestsSF3B1
Open Targets GeneticsENSG00000115524  [validation]
snp3D : Map Gene to Disease23451
BioCentury BCIQSF3B1
ClinGenSF3B1
Clinical trials, drugs, therapy
Protein Interactions : CTD23451
Pharm GKB GenePA35686
Clinical trialSF3B1
Miscellaneous
canSAR (ICR)SF3B1 (select the gene name)
HarmonizomeSF3B1
DataMed IndexSF3B1
Probes
Litterature
PubMed288 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSF3B1
EVEXSF3B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 20:11:02 CEST 2020
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