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SFSWAP (splicing factor SWAP)

Identity

Alias (NCBI)SFRS8
SWAP
HGNC (Hugo) SFSWAP
HGNC Alias symbSWAP
HGNC Previous nameSFRS8
HGNC Previous namesplicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)
 splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)
 splicing factor, suppressor of white-apricot homolog (Drosophila)
 splicing factor, suppressor of white-apricot homolog
LocusID (NCBI) 6433
Atlas_Id 73166
Location 12q24.33  [Link to chromosome band 12q24]
Location_base_pair Starts at 131711090 and ends at 131799738 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)
EP400 (12q24.33) / SFSWAP (12q24.33)PUS1 (12q24.33) / SFSWAP (12q24.33)PWP2 (21q22.3) / SFSWAP (12q24.33)
SFSWAP (12q24.33) / CYP11A1 (15q24.1)SFSWAP (12q24.33) / MYO1H (12q24.11)SFSWAP (12q24.33) / SFSWAP (12q24.33)
EP400 SFSWAPPWP2 SFSWAP

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)SFSWAP   10790
Cards
Entrez_Gene (NCBI)SFSWAP    splicing factor SWAP
AliasesSFRS8; SWAP
GeneCards (Weizmann)SFSWAP
Ensembl hg19 (Hinxton)ENSG00000061936 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000061936 [Gene_View]  ENSG00000061936 [Sequence]  chr12:131711090-131799738 [Contig_View]  SFSWAP [Vega]
ICGC DataPortalENSG00000061936
TCGA cBioPortalSFSWAP
AceView (NCBI)SFSWAP
Genatlas (Paris)SFSWAP
SOURCE (Princeton)SFSWAP
Genetics Home Reference (NIH)SFSWAP
Genomic and cartography
GoldenPath hg38 (UCSC)SFSWAP  -     chr12:131711090-131799738 +  12q24.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SFSWAP  -     12q24.33   [Description]    (hg19-Feb_2009)
GoldenPathSFSWAP - 12q24.33 [CytoView hg19]  SFSWAP - 12q24.33 [CytoView hg38]
ImmunoBaseENSG00000061936
Genome Data Viewer NCBISFSWAP [Mapview hg19]  
OMIM601945   
Gene and transcription
Genbank (Entrez)AA410512 AB208921 AK295149 AK310836 BC008707
RefSeq transcript (Entrez)NM_001261411 NM_004592 NM_152235
Consensus coding sequences : CCDS (NCBI)SFSWAP
Gene ExpressionSFSWAP [ NCBI-GEO ]   SFSWAP [ EBI - ARRAY_EXPRESS ]   SFSWAP [ SEEK ]   SFSWAP [ MEM ]
Gene Expression Viewer (FireBrowse)SFSWAP [ Firebrowse - Broad ]
GenevisibleExpression of SFSWAP in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6433
GTEX Portal (Tissue expression)SFSWAP
Human Protein AtlasENSG00000061936-SFSWAP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12872   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12872  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12872
PhosPhoSitePlusQ12872
Domaine pattern : Prosite (Expaxy)SURP (PS50128)   
Domains : Interpro (EBI)Surp    SWAP    SWAP/Surp_sf    SWAP_N_domain   
Domain families : Pfam (Sanger)DRY_EERY (PF09750)    Surp (PF01805)   
Domain families : Pfam (NCBI)pfam09750    pfam01805   
Domain families : Smart (EMBL)DRY_EERY (SM01141)  SWAP (SM00648)  
Conserved Domain (NCBI)SFSWAP
PDB (RSDB)2E5Z    2E60   
PDB Europe2E5Z    2E60   
PDB (PDBSum)2E5Z    2E60   
PDB (IMB)2E5Z    2E60   
Structural Biology KnowledgeBase2E5Z    2E60   
SCOP (Structural Classification of Proteins)2E5Z    2E60   
CATH (Classification of proteins structures)2E5Z    2E60   
SuperfamilyQ12872
AlphaFold pdb e-kbQ12872   
Human Protein Atlas [tissue]ENSG00000061936-SFSWAP [tissue]
HPRD09055
Protein Interaction databases
DIP (DOE-UCLA)Q12872
IntAct (EBI)Q12872
BioGRIDSFSWAP
STRING (EMBL)SFSWAP
ZODIACSFSWAP
Ontologies - Pathways
QuickGOQ12872
Ontology : AmiGOalternative mRNA splicing, via spliceosome  mRNA 5'-splice site recognition  RNA binding  protein binding  nucleus  negative regulation of mRNA splicing, via spliceosome  
Ontology : EGO-EBIalternative mRNA splicing, via spliceosome  mRNA 5'-splice site recognition  RNA binding  protein binding  nucleus  negative regulation of mRNA splicing, via spliceosome  
NDEx NetworkSFSWAP
Atlas of Cancer Signalling NetworkSFSWAP
Wikipedia pathwaysSFSWAP
Orthology - Evolution
OrthoDB6433
GeneTree (enSembl)ENSG00000061936
Phylogenetic Trees/Animal Genes : TreeFamSFSWAP
Homologs : HomoloGeneSFSWAP
Homology/Alignments : Family Browser (UCSC)SFSWAP
Gene fusions - Rearrangements
Fusion : QuiverSFSWAP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSFSWAP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SFSWAP
dbVarSFSWAP
ClinVarSFSWAP
MonarchSFSWAP
1000_GenomesSFSWAP 
Exome Variant ServerSFSWAP
GNOMAD BrowserENSG00000061936
Varsome BrowserSFSWAP
ACMGSFSWAP variants
VarityQ12872
Genomic Variants (DGV)SFSWAP [DGVbeta]
DECIPHERSFSWAP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSFSWAP 
Mutations
ICGC Data PortalSFSWAP 
TCGA Data PortalSFSWAP 
Broad Tumor PortalSFSWAP
OASIS PortalSFSWAP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSFSWAP  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSFSWAP
Mutations and Diseases : HGMDSFSWAP
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSFSWAP
DgiDB (Drug Gene Interaction Database)SFSWAP
DoCM (Curated mutations)SFSWAP
CIViC (Clinical Interpretations of Variants in Cancer)SFSWAP
Cancer3DSFSWAP
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601945   
Orphanet
DisGeNETSFSWAP
MedgenSFSWAP
Genetic Testing Registry SFSWAP
NextProtQ12872 [Medical]
GENETestsSFSWAP
Target ValidationSFSWAP
Huge Navigator SFSWAP [HugePedia]
ClinGenSFSWAP
Clinical trials, drugs, therapy
MyCancerGenomeSFSWAP
Protein Interactions : CTDSFSWAP
Pharm GKB GenePA35706
PharosQ12872
Clinical trialSFSWAP
Miscellaneous
canSAR (ICR)SFSWAP
HarmonizomeSFSWAP
DataMed IndexSFSWAP
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSFSWAP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:20:20 CEST 2021

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