| Nomenclature |
|---|
| HGNC (Hugo) | SF3B1 10768 |
| LRG (Locus Reference Genomic) | LRG_624 |
| Cards |
|---|
| Entrez_Gene (NCBI) | SF3B1 23451 splicing factor 3b subunit 1 |
| Aliases | Hsh155; MDS; PRP10; PRPF10; |
| SAP155; SF3b155 |
| GeneCards (Weizmann) | SF3B1 |
| Ensembl hg19 (Hinxton) | ENSG00000115524 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000115524 [Gene_View] ENSG00000115524 [Sequence] chr2:197391974-197435093 [Contig_View] SF3B1 [Vega] |
| ICGC DataPortal | ENSG00000115524 |
| TCGA cBioPortal | SF3B1 |
| AceView (NCBI) | SF3B1 |
| Genatlas (Paris) | SF3B1 |
| WikiGenes | 23451 |
| SOURCE (Princeton) | SF3B1 |
| Genetics Home Reference (NIH) | SF3B1 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | SF3B1 - chr2:197391974-197435093 - 2q33.1 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | SF3B1 - 2q33.1 [Description] (hg19-Feb_2009) |
| Ensembl | SF3B1 - 2q33.1 [CytoView hg19] SF3B1 - 2q33.1 [CytoView hg38] |
| Mapping of homologs : NCBI | SF3B1 [Mapview hg19] SF3B1 [Mapview hg38] |
| OMIM | 605590 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 |
| Cluster EST : Unigene | Hs.632554 [ NCBI ] |
| CGAP (NCI) | Hs.632554 |
| Alternative Splicing Gallery | ENSG00000115524 |
| Gene Expression | SF3B1 [ NCBI-GEO ] SF3B1 [ EBI - ARRAY_EXPRESS ]
SF3B1 [ SEEK ] SF3B1 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | SF3B1 [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 23451 |
| GTEX Portal (Tissue expression) | SF3B1 |
| Human Protein Atlas | ENSG00000115524-SF3B1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | O75533 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | O75533 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | O75533 |
| Splice isoforms : SwissVar | O75533 |
| PhosPhoSitePlus | O75533 |
| 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 mutations | 23451 |
| Blocks (Seattle) | SF3B1 |
| PDB (SRS) | 2F9D 2F9J 2FHO 2PEH 3LQV 4OZ1 5IFE 5O9Z |
| PDB (PDBSum) | 2F9D 2F9J 2FHO 2PEH 3LQV 4OZ1 5IFE 5O9Z |
| PDB (IMB) | 2F9D 2F9J 2FHO 2PEH 3LQV 4OZ1 5IFE 5O9Z |
| PDB (RSDB) | 2F9D 2F9J 2FHO 2PEH 3LQV 4OZ1 5IFE 5O9Z |
| Structural Biology KnowledgeBase | 2F9D 2F9J 2FHO 2PEH 3LQV 4OZ1 5IFE 5O9Z |
| SCOP (Structural Classification of Proteins) | 2F9D 2F9J 2FHO 2PEH 3LQV 4OZ1 5IFE 5O9Z |
| CATH (Classification of proteins structures) | 2F9D 2F9J 2FHO 2PEH 3LQV 4OZ1 5IFE 5O9Z |
| Superfamily | O75533 |
| Human Protein Atlas [tissue] | ENSG00000115524-SF3B1 [tissue] |
| Peptide Atlas | O75533 |
| HPRD | 09281 |
| IPI | IPI00026089 IPI00917674 IPI00479561 IPI00917430 IPI01011024 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | O75533 |
| IntAct (EBI) | O75533 |
| FunCoup | ENSG00000115524 |
| BioGRID | SF3B1 |
| STRING (EMBL) | SF3B1 |
| ZODIAC | SF3B1 |
| Ontologies - Pathways |
|---|
| QuickGO | O75533 |
| Ontology : AmiGO | spliceosomal 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 mRNA binding protein binding nucleus nucleoplasm spliceosomal complex U2 snRNP U2 snRNP U12-type spliceosomal complex U12-type spliceosomal complex 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 |
| Ontology : EGO-EBI | spliceosomal 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 mRNA binding protein binding nucleus nucleoplasm spliceosomal complex U2 snRNP U2 snRNP U12-type spliceosomal complex U12-type spliceosomal complex 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 |
| Pathways : KEGG | Spliceosome |
| NDEx Network | SF3B1 |
| Atlas of Cancer Signalling Network | SF3B1 |
| Wikipedia pathways | SF3B1 |
| Orthology - Evolution |
|---|
| OrthoDB | 23451 |
| GeneTree (enSembl) | ENSG00000115524 |
| Phylogenetic Trees/Animal Genes : TreeFam | SF3B1 |
| HOVERGEN | O75533 |
| HOGENOM | O75533 |
| Homologs : HomoloGene | SF3B1 |
| Homology/Alignments : Family Browser (UCSC) | SF3B1 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Quiver | SF3B1 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | SF3B1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | SF3B1 |
| dbVar | SF3B1 |
| ClinVar | SF3B1 |
| 1000_Genomes | SF3B1 |
| Exome Variant Server | SF3B1 |
| ExAC (Exome Aggregation Consortium) | ENSG00000115524 |
| GNOMAD Browser | ENSG00000115524 |
| Varsome Browser | SF3B1 |
| Genetic variants : HAPMAP | 23451 |
| Genomic Variants (DGV) | SF3B1 [DGVbeta] |
| DECIPHER | SF3B1 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | SF3B1 |
| Mutations |
|---|
| ICGC Data Portal | SF3B1 |
| TCGA Data Portal | SF3B1 |
| Broad Tumor Portal | SF3B1 |
| OASIS Portal | SF3B1 [ Somatic mutations - Copy number] |
| Cancer Gene: Census | SF3B1 |
| Somatic Mutations in Cancer : COSMIC | SF3B1 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | SF3B1 |
| intOGen Portal | SF3B1 |
| 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 |
| BioMuta | search 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) |
| intoGen | SF3B1 |
| Cancer3D | SF3B1(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 605590 614286 |
| Orphanet | 11088 10453 |
| DisGeNET | SF3B1 |
| Medgen | SF3B1 |
| Genetic Testing Registry | SF3B1
|
| NextProt | O75533 [Medical] |
| TSGene | 23451 |
| GENETests | SF3B1 |
| Target Validation | SF3B1 |
| Huge Navigator |
SF3B1 [HugePedia] |
| snp3D : Map Gene to Disease | 23451 |
| BioCentury BCIQ | SF3B1 |
| ClinGen | SF3B1 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 23451 |
| Chemical/Pharm GKB Gene | PA35686 |
| Clinical trial | SF3B1 |
| Miscellaneous |
|---|
| canSAR (ICR) | SF3B1 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 206 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | SF3B1 |
| EVEX | SF3B1 |
| GoPubMed | SF3B1 |
| iHOP | SF3B1 |
