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SBDS (SBDS ribosome maturation factor)

Identity

Alias (NCBI)CGI-97
SDO1
SDS
SWDS
HGNC (Hugo) SBDS
HGNC Alias symbCGI-97
FLJ10917
SDS
SWDS
HGNC Previous nameShwachman-Bodian-Diamond syndrome
 SBDS, ribosome assembly guanine nucleotide exchange factor
LocusID (NCBI) 51119
Atlas_Id 42207
Location 7q11.21  [Link to chromosome band 7q11]
Location_base_pair Starts at 66987680 and ends at 66995586 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    SBDS ribosome maturation factor
AliasesCGI-97; SDO1; SDS; SWDS
GeneCards (Weizmann)SBDS
Ensembl hg19 (Hinxton)ENSG00000126524 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126524 [Gene_View]  ENSG00000126524 [Sequence]  chr7:66987680-66995586 [Contig_View]  SBDS [Vega]
ICGC DataPortalENSG00000126524
TCGA cBioPortalSBDS
AceView (NCBI)SBDS
Genatlas (Paris)SBDS
SOURCE (Princeton)SBDS
Genetics Home Reference (NIH)SBDS
Genomic and cartography
GoldenPath hg38 (UCSC)SBDS  -     chr7:66987680-66995586 -  7q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SBDS  -     7q11.21   [Description]    (hg19-Feb_2009)
GoldenPathSBDS - 7q11.21 [CytoView hg19]  SBDS - 7q11.21 [CytoView hg38]
ImmunoBaseENSG00000126524
Genome Data Viewer NCBISBDS [Mapview hg19]  
OMIM260400   607444   609135   
Gene and transcription
Genbank (Entrez)AF151855 AK001779 AK289609 AY169963 BC065700
RefSeq transcript (Entrez)NM_016038
Consensus coding sequences : CCDS (NCBI)SBDS
Gene ExpressionSBDS [ NCBI-GEO ]   SBDS [ EBI - ARRAY_EXPRESS ]   SBDS [ SEEK ]   SBDS [ MEM ]
Gene Expression Viewer (FireBrowse)SBDS [ Firebrowse - Broad ]
GenevisibleExpression of SBDS 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
PhosPhoSitePlusQ9Y3A5
Domaine pattern : Prosite (Expaxy)UPF0023 (PS01267)   
Domains : Interpro (EBI)Ribosome_mat_SBDS_C    Ribosome_mat_SBDS_CS    Ribosome_mat_SBDS_N    Ribosome_mat_SBDS_N_sf    Sdo1/SBDS    Sdo1/SBDS-like    Sdo1/SBDS_central_sf   
Domain families : Pfam (Sanger)SBDS (PF01172)    SBDS_C (PF09377)   
Domain families : Pfam (NCBI)pfam01172    pfam09377   
Conserved Domain (NCBI)SBDS
PDB (RSDB)2KDO    2L9N    5AN9    5ANB    5ANC    6QKL   
PDB Europe2KDO    2L9N    5AN9    5ANB    5ANC    6QKL   
PDB (PDBSum)2KDO    2L9N    5AN9    5ANB    5ANC    6QKL   
PDB (IMB)2KDO    2L9N    5AN9    5ANB    5ANC    6QKL   
Structural Biology KnowledgeBase2KDO    2L9N    5AN9    5ANB    5ANC    6QKL   
SCOP (Structural Classification of Proteins)2KDO    2L9N    5AN9    5ANB    5ANC    6QKL   
CATH (Classification of proteins structures)2KDO    2L9N    5AN9    5ANB    5ANC    6QKL   
SuperfamilyQ9Y3A5
AlphaFold pdb e-kbQ9Y3A5   
Human Protein Atlas [tissue]ENSG00000126524-SBDS [tissue]
HPRD07393
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3A5
IntAct (EBI)Q9Y3A5
BioGRIDSBDS
STRING (EMBL)SBDS
ZODIACSBDS
Ontologies - Pathways
QuickGOQ9Y3A5
Ontology : AmiGOspindle pole  inner cell mass cell proliferation  hematopoietic progenitor cell differentiation  RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytosol  rRNA processing  mitotic spindle organization  microtubule binding  rRNA binding  bone mineralization  leukocyte chemotaxis  mature ribosome assembly  ribosome binding  bone marrow development  
Ontology : EGO-EBIspindle pole  inner cell mass cell proliferation  hematopoietic progenitor cell differentiation  RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytosol  rRNA processing  mitotic spindle organization  microtubule binding  rRNA binding  bone mineralization  leukocyte chemotaxis  mature ribosome assembly  ribosome binding  bone marrow development  
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
Fusion : QuiverSBDS
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSBDS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SBDS
dbVarSBDS
ClinVarSBDS
MonarchSBDS
1000_GenomesSBDS 
Exome Variant ServerSBDS
GNOMAD BrowserENSG00000126524
Varsome BrowserSBDS
ACMGSBDS variants
VarityQ9Y3A5
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]  
Somatic Mutations in Cancer : COSMIC3DSBDS
Mutations and Diseases : HGMDSBDS
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSBDS
DgiDB (Drug Gene Interaction Database)SBDS
DoCM (Curated mutations)SBDS
CIViC (Clinical Interpretations of Variants in Cancer)SBDS
Cancer3DSBDS
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM260400    607444    609135   
Orphanet5536    8751   
DisGeNETSBDS
MedgenSBDS
Genetic Testing Registry SBDS
NextProtQ9Y3A5 [Medical]
GENETestsSBDS
Target ValidationSBDS
Huge Navigator SBDS [HugePedia]
ClinGenSBDS
Clinical trials, drugs, therapy
MyCancerGenomeSBDS
Protein Interactions : CTDSBDS
Pharm GKB GenePA134978742
PharosQ9Y3A5
Clinical trialSBDS
Miscellaneous
canSAR (ICR)SBDS
HarmonizomeSBDS
ARCHS4SBDS
DataMed IndexSBDS
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSBDS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 20 12:57:26 CET 2022

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