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SBDS (Shwachman-Bodian-Diamond syndrome)

Identity

Other namesSDS
SWDS
HGNC (Hugo) SBDS
LocusID (NCBI) 51119
Location 7q11.21
Location_base_pair Starts at 66452690 and ends at 66460588 bp from pter ( according to hg19-Feb_2009)
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)SBDS   19440
Cards
Entrez_Gene (NCBI)SBDS  51119  Shwachman-Bodian-Diamond syndrome
GeneCards (Weizmann)SBDS
Ensembl (Hinxton)ENSG00000126524 [Gene_View]  chr7:66452690-66460588 [Contig_View]  SBDS [Vega]
ICGC DataPortalENSG00000126524
cBioPortalSBDS
AceView (NCBI)SBDS
Genatlas (Paris)SBDS
WikiGenes51119
SOURCE (Princeton)NM_016038
Genomic and cartography
GoldenPath (UCSC)SBDS  -  7q11.21   chr7:66452690-66460588 -  7q11.21   [Description]    (hg19-Feb_2009)
EnsemblSBDS - 7q11.21 [CytoView]
Mapping of homologs : NCBISBDS [Mapview]
OMIM260400   607444   
Gene and transcription
Genbank (Entrez)AF151855 AK001779 AK289609 AY169963 BC065700
RefSeq transcript (Entrez)NM_016038
RefSeq genomic (Entrez)AC_000139 NC_000007 NC_018918 NG_007277 NT_007933 NW_001839038 NW_004929332
Consensus coding sequences : CCDS (NCBI)SBDS
Cluster EST : UnigeneHs.110445 [ NCBI ]
CGAP (NCI)Hs.110445
Alternative Splicing : Fast-db (Paris)GSHG0028244
Alternative Splicing GalleryENSG00000126524
Gene ExpressionSBDS [ NCBI-GEO ]     SBDS [ SEEK ]   SBDS [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y3A5 (Uniprot)
NextProtQ9Y3A5  [Medical]
With graphics : InterProQ9Y3A5
Splice isoforms : SwissVarQ9Y3A5 (Swissvar)
Domaine pattern : Prosite (Expaxy)UPF0023 (PS01267)   
Domains : Interpro (EBI)Ribosome_mat_SBDS_C [organisation]   Ribosome_mat_SBDS_CS [organisation]   Ribosome_mat_SBDS_N [organisation]   Ribosome_maturation_pr_SBDS [organisation]  
Related proteins : CluSTrQ9Y3A5
Domain families : Pfam (Sanger)SBDS (PF01172)    SBDS_C (PF09377)   
Domain families : Pfam (NCBI)pfam01172    pfam09377   
DMDM Disease mutations51119
Blocks (Seattle)Q9Y3A5
PDB (SRS)2KDO    2L9N   
PDB (PDBSum)2KDO    2L9N   
PDB (IMB)2KDO    2L9N   
PDB (RSDB)2KDO    2L9N   
Human Protein AtlasENSG00000126524 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9Y3A5
HPRD07393
IPIIPI00427330   IPI00925603   IPI00926999   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3A5
IntAct (EBI)Q9Y3A5
FunCoupENSG00000126524
BioGRIDSBDS
InParanoidQ9Y3A5
Interologous Interaction database Q9Y3A5
IntegromeDBSBDS
STRING (EMBL)SBDS
Ontologies - Pathways
Ontology : AmiGOspindle pole  inner cell mass cell proliferation  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  rRNA processing  microtubule binding  cell proliferation  rRNA binding  bone mineralization  leukocyte chemotaxis  mature ribosome assembly  ribosomal large subunit biogenesis  ribosome binding  mitotic spindle stabilization  poly(A) RNA binding  bone marrow development  
Ontology : EGO-EBIspindle pole  inner cell mass cell proliferation  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  rRNA processing  microtubule binding  cell proliferation  rRNA binding  bone mineralization  leukocyte chemotaxis  mature ribosome assembly  ribosomal large subunit biogenesis  ribosome binding  mitotic spindle stabilization  poly(A) RNA binding  bone marrow development  
Pathways : KEGGRibosome biogenesis in eukaryotes   
Protein Interaction DatabaseSBDS
Wikipedia pathwaysSBDS
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SBDS
snp3D : Map Gene to Disease51119
SNP (GeneSNP Utah)SBDS
SNP : HGBaseSBDS
Genetic variants : HAPMAPSBDS
Exome VariantSBDS
1000_GenomesSBDS 
ICGC programENSG00000126524 
Cancer Gene: CensusSBDS 
Somatic Mutations in Cancer : COSMICSBDS 
CONAN: Copy Number AnalysisSBDS 
Mutations and Diseases : HGMDSBDS
Genomic VariantsSBDS  SBDS [DGVbeta]
dbVarSBDS
ClinVarSBDS
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM260400    607444   
MedgenSBDS
GENETestsSBDS
Disease Genetic AssociationSBDS
Huge Navigator SBDS [HugePedia]  SBDS [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSBDS
Homology/Alignments : Family Browser (UCSC)SBDS
Phylogenetic Trees/Animal Genes : TreeFamSBDS
Chemical/Protein Interactions : CTD51119
Chemical/Pharm GKB GenePA134978742
Clinical trialSBDS
Cancer Resource (Charite)ENSG00000126524
Other databases
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
CoreMineSBDS
iHOPSBDS
OncoSearchSBDS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:46:46 CEST 2014

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