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SBDS (SBDS ribosome assembly guanine nucleotide exchange factor)

Identity

Other namesCGI-97
SDS
SWDS
HGNC (Hugo) SBDS
LocusID (NCBI) 51119
Atlas_Id 42207
Location 7q11.21  [Link to chromosome band 7q11]
Location_base_pair Starts at 66452690 and ends at 66460588 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SBDS (7q11.21) / POLE3 (9q32)

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Shwachman-Diamond syndrome (SDS)

External links

Nomenclature
HGNC (Hugo)SBDS   19440
Cards
Entrez_Gene (NCBI)SBDS  51119  SBDS ribosome assembly guanine nucleotide exchange factor
AliasesCGI-97; SDS; SWDS
GeneCards (Weizmann)SBDS
Ensembl hg19 (Hinxton)ENSG00000126524 [Gene_View]  chr7:66452690-66460588 [Contig_View]  SBDS [Vega]
Ensembl hg38 (Hinxton)ENSG00000126524 [Gene_View]  chr7:66452690-66460588 [Contig_View]  SBDS [Vega]
ICGC DataPortalENSG00000126524
TCGA cBioPortalSBDS
AceView (NCBI)SBDS
Genatlas (Paris)SBDS
WikiGenes51119
SOURCE (Princeton)SBDS
Genomic and cartography
GoldenPath hg19 (UCSC)SBDS  -     chr7:66452690-66460588 -  7q11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SBDS  -     7q11.21   [Description]    (hg38-Dec_2013)
EnsemblSBDS - 7q11.21 [CytoView hg19]  SBDS - 7q11.21 [CytoView hg38]
Mapping of homologs : NCBISBDS [Mapview hg19]  SBDS [Mapview hg38]
OMIM260400   607444   609135   
Gene and transcription
Genbank (Entrez)AF151855 AK001779 AK289609 AY169963 BC065700
RefSeq transcript (Entrez)NM_016038
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_007277 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)SBDS
Cluster EST : UnigeneHs.110445 [ NCBI ]
CGAP (NCI)Hs.110445
Alternative Splicing GalleryENSG00000126524
Gene ExpressionSBDS [ NCBI-GEO ]   SBDS [ EBI - ARRAY_EXPRESS ]   SBDS [ SEEK ]   SBDS [ MEM ]
Gene Expression Viewer (FireBrowse)SBDS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51119
GTEX Portal (Tissue expression)SBDS
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y3A5 (Uniprot)
NextProtQ9Y3A5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y3A5
Splice isoforms : SwissVarQ9Y3A5 (Swissvar)
PhosPhoSitePlusQ9Y3A5
Domaine pattern : Prosite (Expaxy)UPF0023 (PS01267)   
Domains : Interpro (EBI)Ribosome_mat_SBDS_C    Ribosome_mat_SBDS_CS    Ribosome_mat_SBDS_N    Sdo1/SBDS   
Domain families : Pfam (Sanger)SBDS (PF01172)    SBDS_C (PF09377)   
Domain families : Pfam (NCBI)pfam01172    pfam09377   
DMDM Disease mutations51119
Blocks (Seattle)SBDS
PDB (SRS)2KDO    2L9N    5AN9    5ANB    5ANC   
PDB (PDBSum)2KDO    2L9N    5AN9    5ANB    5ANC   
PDB (IMB)2KDO    2L9N    5AN9    5ANB    5ANC   
PDB (RSDB)2KDO    2L9N    5AN9    5ANB    5ANC   
Structural Biology KnowledgeBase2KDO    2L9N    5AN9    5ANB    5ANC   
SCOP (Structural Classification of Proteins)2KDO    2L9N    5AN9    5ANB    5ANC   
CATH (Classification of proteins structures)2KDO    2L9N    5AN9    5ANB    5ANC   
SuperfamilyQ9Y3A5
Human Protein AtlasENSG00000126524
Peptide AtlasQ9Y3A5
HPRD07393
IPIIPI00427330   IPI00925603   IPI00926999   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3A5
IntAct (EBI)Q9Y3A5
FunCoupENSG00000126524
BioGRIDSBDS
STRING (EMBL)SBDS
ZODIACSBDS
Ontologies - Pathways
QuickGOQ9Y3A5
Ontology : AmiGOspindle pole  inner cell mass cell proliferation  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  rRNA processing  mitotic spindle organization  microtubule binding  cell proliferation  rRNA binding  bone mineralization  leukocyte chemotaxis  mature ribosome assembly  ribosome binding  poly(A) RNA binding  bone marrow development  
Ontology : EGO-EBIspindle pole  inner cell mass cell proliferation  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  rRNA processing  mitotic spindle organization  microtubule binding  cell proliferation  rRNA binding  bone mineralization  leukocyte chemotaxis  mature ribosome assembly  ribosome binding  poly(A) RNA binding  bone marrow development  
Pathways : KEGGRibosome biogenesis in eukaryotes   
NDEx NetworkSBDS
Atlas of Cancer Signalling NetworkSBDS
Wikipedia pathwaysSBDS
Orthology - Evolution
OrthoDB51119
GeneTree (enSembl)ENSG00000126524
Phylogenetic Trees/Animal Genes : TreeFamSBDS
Homologs : HomoloGeneSBDS
Homology/Alignments : Family Browser (UCSC)SBDS
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSBDS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SBDS
dbVarSBDS
ClinVarSBDS
1000_GenomesSBDS 
Exome Variant ServerSBDS
ExAC (Exome Aggregation Consortium)SBDS (select the gene name)
Genetic variants : HAPMAP51119
Genomic Variants (DGV)SBDS [DGVbeta]
Mutations
ICGC Data PortalSBDS 
TCGA Data PortalSBDS 
Broad Tumor PortalSBDS
OASIS PortalSBDS [ Somatic mutations - Copy number]
Cancer Gene: CensusSBDS 
Somatic Mutations in Cancer : COSMICSBDS 
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
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch SBDS
DgiDB (Drug Gene Interaction Database)SBDS
DoCM (Curated mutations)SBDS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SBDS (select a term)
intoGenSBDS
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:66452690-66460588  ENSG00000126524
CONAN: Copy Number AnalysisSBDS 
Mutations and Diseases : HGMDSBDS
OMIM260400    607444    609135   
MedgenSBDS
Genetic Testing Registry SBDS
NextProtQ9Y3A5 [Medical]
TSGene51119
GENETestsSBDS
Huge Navigator SBDS [HugePedia]
snp3D : Map Gene to Disease51119
BioCentury BCIQSBDS
ClinGenSBDS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51119
Chemical/Pharm GKB GenePA134978742
Clinical trialSBDS
Miscellaneous
canSAR (ICR)SBDS (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSBDS
EVEXSBDS
GoPubMedSBDS
iHOPSBDS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 19:12:07 CEST 2016

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