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SFMBT1 (Scm-like with four mbt domains 1)

Identity

Alias_symbol (synonym)RU1
DKFZp434L243
SFMBT
Other aliashSFMBT
HGNC (Hugo) SFMBT1
LocusID (NCBI) 51460
Atlas_Id 42951
Location 3p21.1  [Link to chromosome band 3p21]
Location_base_pair Starts at 52937583 and ends at 53080089 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CRBN (3p26.2) / SFMBT1 (3p21.1)NEK4 (3p21.1) / SFMBT1 (3p21.1)SFMBT1 (3p21.1) / ABHD5 (3p21.33)
SFMBT1 (3p21.1) / AP2A2 (11p15.5)SFMBT1 (3p21.1) / RFT1 (3p21.1)SFMBT1 (3p21.1) / WNT7A (3p25.1)
SFMBT1 3p21.1 / ABHD5 3p21.33SFMBT1 3p21.1 / RFT1 3p21.1SFMBT1 3p21.1 / WNT7A 3p25.1

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) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)SFMBT1   20255
Cards
Entrez_Gene (NCBI)SFMBT1  51460  Scm-like with four mbt domains 1
AliasesRU1; SFMBT; hSFMBT
GeneCards (Weizmann)SFMBT1
Ensembl hg19 (Hinxton)ENSG00000163935 [Gene_View]  chr3:52937583-53080089 [Contig_View]  SFMBT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000163935 [Gene_View]  chr3:52937583-53080089 [Contig_View]  SFMBT1 [Vega]
ICGC DataPortalENSG00000163935
TCGA cBioPortalSFMBT1
AceView (NCBI)SFMBT1
Genatlas (Paris)SFMBT1
WikiGenes51460
SOURCE (Princeton)SFMBT1
Genetics Home Reference (NIH)SFMBT1
Genomic and cartography
GoldenPath hg19 (UCSC)SFMBT1  -     chr3:52937583-53080089 -  3p21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SFMBT1  -     3p21.1   [Description]    (hg38-Dec_2013)
EnsemblSFMBT1 - 3p21.1 [CytoView hg19]  SFMBT1 - 3p21.1 [CytoView hg38]
Mapping of homologs : NCBISFMBT1 [Mapview hg19]  SFMBT1 [Mapview hg38]
OMIM607319   
Gene and transcription
Genbank (Entrez)AB189472 AF168132 AI206996 AK313965 AL080140
RefSeq transcript (Entrez)NM_001005158 NM_001005159 NM_016329
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)SFMBT1
Cluster EST : UnigeneHs.343679 [ NCBI ]
CGAP (NCI)Hs.343679
Alternative Splicing GalleryENSG00000163935
Gene ExpressionSFMBT1 [ NCBI-GEO ]   SFMBT1 [ EBI - ARRAY_EXPRESS ]   SFMBT1 [ SEEK ]   SFMBT1 [ MEM ]
Gene Expression Viewer (FireBrowse)SFMBT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51460
GTEX Portal (Tissue expression)SFMBT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHJ3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHJ3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHJ3
Splice isoforms : SwissVarQ9UHJ3
PhosPhoSitePlusQ9UHJ3
Domaine pattern : Prosite (Expaxy)MBT (PS51079)   
Domains : Interpro (EBI)DUF3588    Mbt    SAM    SAM/pointed   
Domain families : Pfam (Sanger)DUF3588 (PF12140)    MBT (PF02820)    SAM_1 (PF00536)   
Domain families : Pfam (NCBI)pfam12140    pfam02820    pfam00536   
Domain families : Smart (EMBL)MBT (SM00561)  SAM (SM00454)  
Conserved Domain (NCBI)SFMBT1
DMDM Disease mutations51460
Blocks (Seattle)SFMBT1
SuperfamilyQ9UHJ3
Human Protein AtlasENSG00000163935
Peptide AtlasQ9UHJ3
HPRD09539
IPIIPI00252113   IPI00051243   IPI00789552   IPI00947402   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHJ3
IntAct (EBI)Q9UHJ3
FunCoupENSG00000163935
BioGRIDSFMBT1
STRING (EMBL)SFMBT1
ZODIACSFMBT1
Ontologies - Pathways
QuickGOQ9UHJ3
Ontology : AmiGOtranscription corepressor activity  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  spermatogenesis  chromatin modification  cell differentiation  histone binding  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  negative regulation of muscle organ development  
Ontology : EGO-EBItranscription corepressor activity  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  spermatogenesis  chromatin modification  cell differentiation  histone binding  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  negative regulation of muscle organ development  
NDEx NetworkSFMBT1
Atlas of Cancer Signalling NetworkSFMBT1
Wikipedia pathwaysSFMBT1
Orthology - Evolution
OrthoDB51460
GeneTree (enSembl)ENSG00000163935
Phylogenetic Trees/Animal Genes : TreeFamSFMBT1
HOVERGENQ9UHJ3
HOGENOMQ9UHJ3
Homologs : HomoloGeneSFMBT1
Homology/Alignments : Family Browser (UCSC)SFMBT1
Gene fusions - Rearrangements
Fusion : MitelmanNEK4/SFMBT1 [3p21.1/3p21.1]  [t(3;3)(p21;p21)]  
Fusion : MitelmanSFMBT1/ABHD5 [3p21.1/3p21.33]  [t(3;3)(p21;p21)]  
Fusion : MitelmanSFMBT1/AP2A2 [3p21.1/11p15.5]  [t(3;11)(p21;p15)]  
Fusion : MitelmanSFMBT1/RFT1 [3p21.1/3p21.1]  [t(3;3)(p21;p21)]  
Fusion : MitelmanSFMBT1/WNT7A [3p21.1/3p25.1]  [t(3;3)(p21;p25)]  
Fusion: TCGASFMBT1 3p21.1 ABHD5 3p21.33 KIRC
Fusion: TCGASFMBT1 3p21.1 RFT1 3p21.1 BRCA
Fusion: TCGASFMBT1 3p21.1 WNT7A 3p25.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSFMBT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SFMBT1
dbVarSFMBT1
ClinVarSFMBT1
1000_GenomesSFMBT1 
Exome Variant ServerSFMBT1
ExAC (Exome Aggregation Consortium)SFMBT1 (select the gene name)
Genetic variants : HAPMAP51460
Genomic Variants (DGV)SFMBT1 [DGVbeta]
DECIPHER (Syndromes)3:52937583-53080089  ENSG00000163935
CONAN: Copy Number AnalysisSFMBT1 
Mutations
ICGC Data PortalSFMBT1 
TCGA Data PortalSFMBT1 
Broad Tumor PortalSFMBT1
OASIS PortalSFMBT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSFMBT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSFMBT1
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 SFMBT1
DgiDB (Drug Gene Interaction Database)SFMBT1
DoCM (Curated mutations)SFMBT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SFMBT1 (select a term)
intoGenSFMBT1
Cancer3DSFMBT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607319   
Orphanet
MedgenSFMBT1
Genetic Testing Registry SFMBT1
NextProtQ9UHJ3 [Medical]
TSGene51460
GENETestsSFMBT1
Huge Navigator SFMBT1 [HugePedia]
snp3D : Map Gene to Disease51460
BioCentury BCIQSFMBT1
ClinGenSFMBT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51460
Chemical/Pharm GKB GenePA134898464
Clinical trialSFMBT1
Miscellaneous
canSAR (ICR)SFMBT1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSFMBT1
EVEXSFMBT1
GoPubMedSFMBT1
iHOPSFMBT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:27:00 CET 2017

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