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SF3A1 (splicing factor 3a subunit 1)

Identity

Alias_namessplicing factor 3a, subunit 1, 120kD
splicing factor 3a, subunit 1, 120kDa
Alias_symbol (synonym)SF3a120
SAP114
PRPF21
Prp21
Other aliasPRP21
SF3A120
HGNC (Hugo) SF3A1
LocusID (NCBI) 10291
Atlas_Id 55762
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 30331988 and ends at 30356947 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ADRBK2 (22q12.1) / SF3A1 (22q12.2)GPR75-ASB3 (2p16.2) / SF3A1 (22q12.2)PCNX3 (11q13.1) / SF3A1 (22q12.2)
SF3A1 (22q12.2) / PEA15 (1q23.2)SF3A1 (22q12.2) / SF3A1 (22q12.2)VPS28 (8q24.3) / SF3A1 (22q12.2)

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)SF3A1   10765
LRG (Locus Reference Genomic)LRG_622
Cards
Entrez_Gene (NCBI)SF3A1  10291  splicing factor 3a subunit 1
AliasesPRP21; PRPF21; SAP114; SF3A120
GeneCards (Weizmann)SF3A1
Ensembl hg19 (Hinxton)ENSG00000099995 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000099995 [Gene_View]  chr22:30331988-30356947 [Contig_View]  SF3A1 [Vega]
ICGC DataPortalENSG00000099995
TCGA cBioPortalSF3A1
AceView (NCBI)SF3A1
Genatlas (Paris)SF3A1
WikiGenes10291
SOURCE (Princeton)SF3A1
Genetics Home Reference (NIH)SF3A1
Genomic and cartography
GoldenPath hg38 (UCSC)SF3A1  -     chr22:30331988-30356947 -  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SF3A1  -     22q12.2   [Description]    (hg19-Feb_2009)
EnsemblSF3A1 - 22q12.2 [CytoView hg19]  SF3A1 - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBISF3A1 [Mapview hg19]  SF3A1 [Mapview hg38]
OMIM605595   
Gene and transcription
Genbank (Entrez)AI681052 AK098463 AK303273 AU100212 AV750569
RefSeq transcript (Entrez)NM_001005409 NM_005877
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SF3A1
Cluster EST : UnigeneHs.505597 [ NCBI ]
CGAP (NCI)Hs.505597
Alternative Splicing GalleryENSG00000099995
Gene ExpressionSF3A1 [ NCBI-GEO ]   SF3A1 [ EBI - ARRAY_EXPRESS ]   SF3A1 [ SEEK ]   SF3A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SF3A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10291
GTEX Portal (Tissue expression)SF3A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15459   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15459  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15459
Splice isoforms : SwissVarQ15459
PhosPhoSitePlusQ15459
Domaine pattern : Prosite (Expaxy)SURP (PS50128)    UBIQUITIN_2 (PS50053)   
Domains : Interpro (EBI)SF3A1    Surp    Ubiquitin-rel_dom    Ubiquitin_dom   
Domain families : Pfam (Sanger)PRP21_like_P (PF12230)    Surp (PF01805)    ubiquitin (PF00240)   
Domain families : Pfam (NCBI)pfam12230    pfam01805    pfam00240   
Domain families : Smart (EMBL)SWAP (SM00648)  UBQ (SM00213)  
Conserved Domain (NCBI)SF3A1
DMDM Disease mutations10291
Blocks (Seattle)SF3A1
PDB (SRS)1ZKH    2DT6    2DT7   
PDB (PDBSum)1ZKH    2DT6    2DT7   
PDB (IMB)1ZKH    2DT6    2DT7   
PDB (RSDB)1ZKH    2DT6    2DT7   
Structural Biology KnowledgeBase1ZKH    2DT6    2DT7   
SCOP (Structural Classification of Proteins)1ZKH    2DT6    2DT7   
CATH (Classification of proteins structures)1ZKH    2DT6    2DT7   
SuperfamilyQ15459
Human Protein AtlasENSG00000099995
Peptide AtlasQ15459
HPRD06903
IPIIPI00017451   IPI01010147   IPI00470590   IPI00877949   IPI00878677   
Protein Interaction databases
DIP (DOE-UCLA)Q15459
IntAct (EBI)Q15459
FunCoupENSG00000099995
BioGRIDSF3A1
STRING (EMBL)SF3A1
ZODIACSF3A1
Ontologies - Pathways
QuickGOQ15459
Ontology : AmiGOregulation of alternative mRNA splicing, via spliceosome  mRNA 3'-splice site recognition  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleoplasm  spliceosomal complex  U2-type spliceosomal complex  U2 snRNP  U2 snRNP  mRNA processing  nuclear speck  U2-type prespliceosome  catalytic step 2 spliceosome  
Ontology : EGO-EBIregulation of alternative mRNA splicing, via spliceosome  mRNA 3'-splice site recognition  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleoplasm  spliceosomal complex  U2-type spliceosomal complex  U2 snRNP  U2 snRNP  mRNA processing  nuclear speck  U2-type prespliceosome  catalytic step 2 spliceosome  
Pathways : KEGGSpliceosome   
NDEx NetworkSF3A1
Atlas of Cancer Signalling NetworkSF3A1
Wikipedia pathwaysSF3A1
Orthology - Evolution
OrthoDB10291
GeneTree (enSembl)ENSG00000099995
Phylogenetic Trees/Animal Genes : TreeFamSF3A1
HOVERGENQ15459
HOGENOMQ15459
Homologs : HomoloGeneSF3A1
Homology/Alignments : Family Browser (UCSC)SF3A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSF3A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SF3A1
dbVarSF3A1
ClinVarSF3A1
1000_GenomesSF3A1 
Exome Variant ServerSF3A1
ExAC (Exome Aggregation Consortium)SF3A1 (select the gene name)
Genetic variants : HAPMAP10291
Genomic Variants (DGV)SF3A1 [DGVbeta]
DECIPHERSF3A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSF3A1 
Mutations
ICGC Data PortalSF3A1 
TCGA Data PortalSF3A1 
Broad Tumor PortalSF3A1
OASIS PortalSF3A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSF3A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSF3A1
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 SF3A1
DgiDB (Drug Gene Interaction Database)SF3A1
DoCM (Curated mutations)SF3A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SF3A1 (select a term)
intoGenSF3A1
Cancer3DSF3A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605595   
Orphanet
MedgenSF3A1
Genetic Testing Registry SF3A1
NextProtQ15459 [Medical]
TSGene10291
GENETestsSF3A1
Target ValidationSF3A1
Huge Navigator SF3A1 [HugePedia]
snp3D : Map Gene to Disease10291
BioCentury BCIQSF3A1
ClinGenSF3A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10291
Chemical/Pharm GKB GenePA35683
Clinical trialSF3A1
Miscellaneous
canSAR (ICR)SF3A1 (select the gene name)
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSF3A1
EVEXSF3A1
GoPubMedSF3A1
iHOPSF3A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:30:45 CEST 2017

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