Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SBF1 (SET binding factor 1)

Identity

Alias_symbol (synonym)MTMR5
DENND7A
Other aliasCMT4B3
HGNC (Hugo) SBF1
LocusID (NCBI) 6305
Atlas_Id 42208
Location 22q13.33  [Link to chromosome band 22q13]
Location_base_pair Starts at 50445001 and ends at 50475071 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)
APOBEC3F (22q13.1) / SBF1 (22q13.33)SBF1 (22q13.33) / FLNA (Xq28)SBF1 (22q13.33) / MYLPF (16p11.2)
SBF1 (22q13.33) / SCO2 (22q13.33)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(X;22)(q28;q13) SBF1/FLNA
t(22;22)(q13;q13) SBF1/SCO2
t(22;22)(q13;q13) APOBEC3F/SBF1

External links

Nomenclature
HGNC (Hugo)SBF1   10542
Cards
Entrez_Gene (NCBI)SBF1  6305  SET binding factor 1
AliasesCMT4B3; DENND7A; MTMR5
GeneCards (Weizmann)SBF1
Ensembl hg19 (Hinxton)ENSG00000100241 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100241 [Gene_View]  chr22:50445001-50475071 [Contig_View]  SBF1 [Vega]
ICGC DataPortalENSG00000100241
TCGA cBioPortalSBF1
AceView (NCBI)SBF1
Genatlas (Paris)SBF1
WikiGenes6305
SOURCE (Princeton)SBF1
Genetics Home Reference (NIH)SBF1
Genomic and cartography
GoldenPath hg38 (UCSC)SBF1  -     chr22:50445001-50475071 -  22q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SBF1  -     22q13.33   [Description]    (hg19-Feb_2009)
EnsemblSBF1 - 22q13.33 [CytoView hg19]  SBF1 - 22q13.33 [CytoView hg38]
Mapping of homologs : NCBISBF1 [Mapview hg19]  SBF1 [Mapview hg38]
OMIM603560   615284   
Gene and transcription
Genbank (Entrez)AB209682 AF072929 AK057985 BC009268 BC024101
RefSeq transcript (Entrez)NM_002972
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SBF1
Cluster EST : UnigeneHs.589924 [ NCBI ]
CGAP (NCI)Hs.589924
Alternative Splicing GalleryENSG00000100241
Gene ExpressionSBF1 [ NCBI-GEO ]   SBF1 [ EBI - ARRAY_EXPRESS ]   SBF1 [ SEEK ]   SBF1 [ MEM ]
Gene Expression Viewer (FireBrowse)SBF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6305
GTEX Portal (Tissue expression)SBF1
Human Protein AtlasENSG00000100241-SBF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95248   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95248  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95248
Splice isoforms : SwissVarO95248
PhosPhoSitePlusO95248
Domaine pattern : Prosite (Expaxy)DDENN (PS50947)    DENN (PS50211)    PH_DOMAIN (PS50003)    PPASE_MYOTUBULARIN (PS51339)    UDENN (PS50946)   
Domains : Interpro (EBI)dDENN_dom    DENN_dom    GRAM    MTMR5    Myotubularin-like_Pase_dom    Myotubularin_fam    PH_dom-like    PH_domain    Prot-tyrosine_phosphatase-like    SBF1/SBF2    uDENN_dom   
Domain families : Pfam (Sanger)DENN (PF02141)    GRAM (PF02893)    Myotub-related (PF06602)    PH (PF00169)    SBF2 (PF12335)    uDENN (PF03456)   
Domain families : Pfam (NCBI)pfam02141    pfam02893    pfam06602    pfam00169    pfam12335    pfam03456   
Domain families : Smart (EMBL)dDENN (SM00801)  DENN (SM00799)  GRAM (SM00568)  PH (SM00233)  uDENN (SM00800)  
Conserved Domain (NCBI)SBF1
DMDM Disease mutations6305
Blocks (Seattle)SBF1
SuperfamilyO95248
Human Protein Atlas [tissue]ENSG00000100241-SBF1 [tissue]
Peptide AtlasO95248
HPRD06788
IPIIPI01013451   IPI01018092   IPI00218397   IPI00853090   IPI00852604   
Protein Interaction databases
DIP (DOE-UCLA)O95248
IntAct (EBI)O95248
FunCoupENSG00000100241
BioGRIDSBF1
STRING (EMBL)SBF1
ZODIACSBF1
Ontologies - Pathways
QuickGOO95248
Ontology : AmiGOcytoplasm  endoplasmic reticulum membrane  cytosol  protein dephosphorylation  phosphatidylinositol biosynthetic process  spermatogenesis  protein tyrosine/serine/threonine phosphatase activity  integral component of membrane  nuclear body  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  phosphatase regulator activity  regulation of GTPase activity  
Ontology : EGO-EBIcytoplasm  endoplasmic reticulum membrane  cytosol  protein dephosphorylation  phosphatidylinositol biosynthetic process  spermatogenesis  protein tyrosine/serine/threonine phosphatase activity  integral component of membrane  nuclear body  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  phosphatase regulator activity  regulation of GTPase activity  
NDEx NetworkSBF1
Atlas of Cancer Signalling NetworkSBF1
Wikipedia pathwaysSBF1
Orthology - Evolution
OrthoDB6305
GeneTree (enSembl)ENSG00000100241
Phylogenetic Trees/Animal Genes : TreeFamSBF1
HOVERGENO95248
HOGENOMO95248
Homologs : HomoloGeneSBF1
Homology/Alignments : Family Browser (UCSC)SBF1
Gene fusions - Rearrangements
Fusion : MitelmanSBF1/FLNA [22q13.33/Xq28]  
Fusion : MitelmanSBF1/SCO2 [22q13.33/22q13.33]  [t(22;22)(q13;q13)]  
Fusion : QuiverSBF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSBF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SBF1
dbVarSBF1
ClinVarSBF1
1000_GenomesSBF1 
Exome Variant ServerSBF1
ExAC (Exome Aggregation Consortium)ENSG00000100241
GNOMAD BrowserENSG00000100241
Genetic variants : HAPMAP6305
Genomic Variants (DGV)SBF1 [DGVbeta]
DECIPHERSBF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSBF1 
Mutations
ICGC Data PortalSBF1 
TCGA Data PortalSBF1 
Broad Tumor PortalSBF1
OASIS PortalSBF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSBF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSBF1
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 SBF1
DgiDB (Drug Gene Interaction Database)SBF1
DoCM (Curated mutations)SBF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SBF1 (select a term)
intoGenSBF1
Cancer3DSBF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603560    615284   
Orphanet22355   
DisGeNETSBF1
MedgenSBF1
Genetic Testing Registry SBF1
NextProtO95248 [Medical]
TSGene6305
GENETestsSBF1
Target ValidationSBF1
Huge Navigator SBF1 [HugePedia]
snp3D : Map Gene to Disease6305
BioCentury BCIQSBF1
ClinGenSBF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6305
Chemical/Pharm GKB GenePA34953
Clinical trialSBF1
Miscellaneous
canSAR (ICR)SBF1 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSBF1
EVEXSBF1
GoPubMedSBF1
iHOPSBF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon May 14 12:16:52 CEST 2018
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