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SBDS (SBDS, ribosome maturation factor)

Identity

Alias_namesShwachman-Bodian-Diamond syndrome
Alias_symbol (synonym)CGI-97
FLJ10917
SDS
SWDS
Other alias
HGNC (Hugo) SBDS
LocusID (NCBI) 51119
Atlas_Id 42207
Location 7q11.21  [Link to chromosome band 7q11]
Location_base_pair Starts at 66987677 and ends at 66995696 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)
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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  i(7)(q10)


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


External links

Nomenclature
HGNC (Hugo)SBDS   19440
LRG (Locus Reference Genomic)LRG_104
Cards
Entrez_Gene (NCBI)SBDS  51119  SBDS, ribosome maturation factor
AliasesCGI-97; SDS; SWDS
GeneCards (Weizmann)SBDS
Ensembl hg19 (Hinxton)ENSG00000126524 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126524 [Gene_View]  chr7:66987677-66995696 [Contig_View]  SBDS [Vega]
ICGC DataPortalENSG00000126524
TCGA cBioPortalSBDS
AceView (NCBI)SBDS
Genatlas (Paris)SBDS
WikiGenes51119
SOURCE (Princeton)SBDS
Genetics Home Reference (NIH)SBDS
Genomic and cartography
GoldenPath hg38 (UCSC)SBDS  -     chr7:66987677-66995696 -  7q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SBDS  -     7q11.21   [Description]    (hg19-Feb_2009)
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)
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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51119
GTEX Portal (Tissue expression)SBDS
Human Protein AtlasENSG00000126524-SBDS [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y3A5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y3A5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y3A5
Splice isoforms : SwissVarQ9Y3A5
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   
Conserved Domain (NCBI)SBDS
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 Atlas [tissue]ENSG00000126524-SBDS [tissue]
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  RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytosol  rRNA processing  mitotic spindle organization  microtubule binding  cell proliferation  rRNA binding  bone mineralization  leukocyte chemotaxis  mature ribosome assembly  ribosome binding  bone marrow development  
Ontology : EGO-EBIspindle pole  inner cell mass cell proliferation  RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytosol  rRNA processing  mitotic spindle organization  microtubule binding  cell proliferation  rRNA binding  bone mineralization  leukocyte chemotaxis  mature ribosome assembly  ribosome 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
HOVERGENQ9Y3A5
HOGENOMQ9Y3A5
Homologs : HomoloGeneSBDS
Homology/Alignments : Family Browser (UCSC)SBDS
Gene fusions - Rearrangements
Tumor Fusion PortalSBDS
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSBDS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SBDS
dbVarSBDS
ClinVarSBDS
1000_GenomesSBDS 
Exome Variant ServerSBDS
ExAC (Exome Aggregation Consortium)ENSG00000126524
GNOMAD BrowserENSG00000126524
Genetic variants : HAPMAP51119
Genomic Variants (DGV)SBDS [DGVbeta]
DECIPHERSBDS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSBDS 
Mutations
ICGC Data PortalSBDS 
TCGA Data PortalSBDS 
Broad Tumor PortalSBDS
OASIS PortalSBDS [ Somatic mutations - Copy number]
Cancer Gene: CensusSBDS 
Somatic Mutations in Cancer : COSMICSBDS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSBDS
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
Cancer3DSBDS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM260400    607444    609135   
Orphanet5536    8751   
DisGeNETSBDS
MedgenSBDS
Genetic Testing Registry SBDS
NextProtQ9Y3A5 [Medical]
TSGene51119
GENETestsSBDS
Target ValidationSBDS
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
PubMed64 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

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:33:32 CET 2017

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