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SMU1 (DNA replication regulator and spliceosomal factor)

Identity

Alias_namessmu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)
Alias_symbol (synonym)SMU-1
FLJ10805
BWD
fSAP57
Other alias
HGNC (Hugo) SMU1
LocusID (NCBI) 55234
Atlas_Id 73595
Location 9p21.1  [Link to chromosome band 9p21]
Location_base_pair Starts at 33041852 and ends at 33076716 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PRKAG2 (7q36.1) / SMU1 (9p21.1)SMU1 (9p21.1) / ATXN1 (6p22.3)SMU1 (9p21.1) / B4GALT1 (9p21.1)
SMU1 (9p21.1) / DNAJC9 (10q22.2)

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)SMU1   18247
Cards
Entrez_Gene (NCBI)SMU1  55234  DNA replication regulator and spliceosomal factor
AliasesBWD; SMU-1; fSAP57
GeneCards (Weizmann)SMU1
Ensembl hg19 (Hinxton)ENSG00000122692 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122692 [Gene_View]  chr9:33041852-33076716 [Contig_View]  SMU1 [Vega]
ICGC DataPortalENSG00000122692
TCGA cBioPortalSMU1
AceView (NCBI)SMU1
Genatlas (Paris)SMU1
WikiGenes55234
SOURCE (Princeton)SMU1
Genetics Home Reference (NIH)SMU1
Genomic and cartography
GoldenPath hg38 (UCSC)SMU1  -     chr9:33041852-33076716 -  9p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMU1  -     9p21.1   [Description]    (hg19-Feb_2009)
EnsemblSMU1 - 9p21.1 [CytoView hg19]  SMU1 - 9p21.1 [CytoView hg38]
Mapping of homologs : NCBISMU1 [Mapview hg19]  SMU1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK001667 AK001732 AK022032 AK225559 AK225587
RefSeq transcript (Entrez)NM_018225
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMU1
Cluster EST : UnigeneHs.655351 [ NCBI ]
CGAP (NCI)Hs.655351
Alternative Splicing GalleryENSG00000122692
Gene ExpressionSMU1 [ NCBI-GEO ]   SMU1 [ EBI - ARRAY_EXPRESS ]   SMU1 [ SEEK ]   SMU1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMU1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55234
GTEX Portal (Tissue expression)SMU1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ2TAY7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ2TAY7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ2TAY7
Splice isoforms : SwissVarQ2TAY7
PhosPhoSitePlusQ2TAY7
Domaine pattern : Prosite (Expaxy)CTLH (PS50897)    LISH (PS50896)    WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)CTLH_C    G-protein_beta_WD-40_rep    LisH    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)CTLH (SM00668)  LisH (SM00667)  WD40 (SM00320)  
Conserved Domain (NCBI)SMU1
DMDM Disease mutations55234
Blocks (Seattle)SMU1
SuperfamilyQ2TAY7
Human Protein AtlasENSG00000122692
Peptide AtlasQ2TAY7
HPRD11588
IPIIPI00305833   IPI01015222   
Protein Interaction databases
DIP (DOE-UCLA)Q2TAY7
IntAct (EBI)Q2TAY7
FunCoupENSG00000122692
BioGRIDSMU1
STRING (EMBL)SMU1
ZODIACSMU1
Ontologies - Pathways
QuickGOQ2TAY7
Ontology : AmiGOprotein binding  nucleus  cytoplasm  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  
NDEx NetworkSMU1
Atlas of Cancer Signalling NetworkSMU1
Wikipedia pathwaysSMU1
Orthology - Evolution
OrthoDB55234
GeneTree (enSembl)ENSG00000122692
Phylogenetic Trees/Animal Genes : TreeFamSMU1
HOVERGENQ2TAY7
HOGENOMQ2TAY7
Homologs : HomoloGeneSMU1
Homology/Alignments : Family Browser (UCSC)SMU1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMU1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMU1
dbVarSMU1
ClinVarSMU1
1000_GenomesSMU1 
Exome Variant ServerSMU1
ExAC (Exome Aggregation Consortium)SMU1 (select the gene name)
Genetic variants : HAPMAP55234
Genomic Variants (DGV)SMU1 [DGVbeta]
DECIPHERSMU1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMU1 
Mutations
ICGC Data PortalSMU1 
TCGA Data PortalSMU1 
Broad Tumor PortalSMU1
OASIS PortalSMU1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMU1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMU1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMU1
DgiDB (Drug Gene Interaction Database)SMU1
DoCM (Curated mutations)SMU1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMU1 (select a term)
intoGenSMU1
Cancer3DSMU1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenSMU1
Genetic Testing Registry SMU1
NextProtQ2TAY7 [Medical]
TSGene55234
GENETestsSMU1
Target ValidationSMU1
Huge Navigator SMU1 [HugePedia]
snp3D : Map Gene to Disease55234
BioCentury BCIQSMU1
ClinGenSMU1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55234
Chemical/Pharm GKB GenePA134903890
Clinical trialSMU1
Miscellaneous
canSAR (ICR)SMU1 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMU1
EVEXSMU1
GoPubMedSMU1
iHOPSMU1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:41:51 CEST 2017

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