Atlas of Genetics and Cytogenetics in Oncology and Haematology


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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

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CBS (cystathionine-beta-synthase)

Identity

Other namesHIP4
HGNC (Hugo) CBS
LocusID (NCBI) 875
Location 21q22.3
Location_base_pair Starts at 44473301 and ends at 44496040 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

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)CBS   1550
Cards
Entrez_Gene (NCBI)CBS  875  cystathionine-beta-synthase
GeneCards (Weizmann)CBS
Ensembl hg19 (Hinxton)ENSG00000160200 [Gene_View]  chr21:44473301-44496040 [Contig_View]  CBS [Vega]
Ensembl hg38 (Hinxton)ENSG00000160200 [Gene_View]  chr21:44473301-44496040 [Contig_View]  CBS [Vega]
ICGC DataPortalENSG00000160200
cBioPortalCBS
AceView (NCBI)CBS
Genatlas (Paris)CBS
WikiGenes875
SOURCE (Princeton)CBS
Genomic and cartography
GoldenPath hg19 (UCSC)CBS  -     chr21:44473301-44496040 -  21q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CBS  -     21q22.3   [Description]    (hg38-Dec_2013)
EnsemblCBS - 21q22.3 [CytoView hg19]  CBS - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBICBS [Mapview hg19]  CBS [Mapview hg38]
OMIM236200   613381   
Gene and transcription
Genbank (Entrez)AK294608 AK301063 AK313691 AL137314 AL531222
RefSeq transcript (Entrez)NM_000071 NM_001178008 NM_001178009
RefSeq genomic (Entrez)NC_000021 NC_018932 NG_008938 NT_011512 NW_004929427
Consensus coding sequences : CCDS (NCBI)CBS
Cluster EST : UnigeneHs.533013 [ NCBI ]
CGAP (NCI)Hs.533013
Alternative Splicing : Fast-db (Paris)GSHG0019738
Alternative Splicing GalleryENSG00000160200
Gene ExpressionCBS [ NCBI-GEO ]     CBS [ SEEK ]   CBS [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35520 (Uniprot)
NextProtP35520  [Medical]
With graphics : InterProP35520
Splice isoforms : SwissVarP35520 (Swissvar)
Catalytic activity : Enzyme4.2.1.22 [ Enzyme-Expasy ]   4.2.1.224.2.1.22 [ IntEnz-EBI ]   4.2.1.22 [ BRENDA ]   4.2.1.22 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CBS (PS51371)    CYS_SYNTHASE (PS00901)   
Domains : Interpro (EBI)CBS_dom    Cysta_beta_synth    P-phosphate_BS    TrpB-like_PLP-dep   
Related proteins : CluSTrP35520
Domain families : Pfam (Sanger)CBS (PF00571)    PALP (PF00291)   
Domain families : Pfam (NCBI)pfam00571    pfam00291   
Domain families : Smart (EMBL)CBS (SM00116)  
DMDM Disease mutations875
Blocks (Seattle)P35520
PDB (SRS)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V    4PCU    4UUU   
PDB (PDBSum)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V    4PCU    4UUU   
PDB (IMB)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V    4PCU    4UUU   
PDB (RSDB)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V    4PCU    4UUU   
Human Protein AtlasENSG00000160200
Peptide AtlasP35520
HPRD01994
IPIIPI00219352   IPI00219649   IPI01012205   IPI01013547   IPI00930086   IPI00794609   IPI00792672   IPI00795559   
Protein Interaction databases
DIP (DOE-UCLA)P35520
IntAct (EBI)P35520
FunCoupENSG00000160200
BioGRIDCBS
IntegromeDBCBS
STRING (EMBL)CBS
Ontologies - Pathways
QuickGOP35520
Ontology : AmiGOsulfur amino acid metabolic process  cystathionine beta-synthase activity  cystathionine beta-synthase activity  protein binding  nucleus  nucleolus  cytosol  cytosol  cysteine biosynthetic process from serine  L-serine metabolic process  L-serine catabolic process  cysteine biosynthetic process via cystathionine  transsulfuration  L-cysteine catabolic process  enzyme binding  heme binding  heme binding  pyridoxal phosphate binding  ubiquitin protein ligase binding  cellular nitrogen compound metabolic process  identical protein binding  protein homodimerization activity  intracellular membrane-bounded organelle  homocysteine catabolic process  small molecule metabolic process  metal ion binding  homocysteine metabolic process  hydrogen sulfide biosynthetic process  hydrogen sulfide biosynthetic process  modified amino acid binding  
Ontology : EGO-EBIsulfur amino acid metabolic process  cystathionine beta-synthase activity  cystathionine beta-synthase activity  protein binding  nucleus  nucleolus  cytosol  cytosol  cysteine biosynthetic process from serine  L-serine metabolic process  L-serine catabolic process  cysteine biosynthetic process via cystathionine  transsulfuration  L-cysteine catabolic process  enzyme binding  heme binding  heme binding  pyridoxal phosphate binding  ubiquitin protein ligase binding  cellular nitrogen compound metabolic process  identical protein binding  protein homodimerization activity  intracellular membrane-bounded organelle  homocysteine catabolic process  small molecule metabolic process  metal ion binding  homocysteine metabolic process  hydrogen sulfide biosynthetic process  hydrogen sulfide biosynthetic process  modified amino acid binding  
Pathways : KEGGGlycine, serine and threonine metabolism    Cysteine and methionine metabolism   
Protein Interaction DatabaseCBS
DoCM (Curated mutations)CBS
Wikipedia pathwaysCBS
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCBS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CBS
dbVarCBS
ClinVarCBS
1000_GenomesCBS 
Exome Variant ServerCBS
SNP (GeneSNP Utah)CBS
SNP : HGBaseCBS
Genetic variants : HAPMAPCBS
Genomic Variants (DGV)CBS [DGVbeta]
Mutations
ICGC Data PortalENSG00000160200 
Somatic Mutations in Cancer : COSMICCBS 
CONAN: Copy Number AnalysisCBS 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)21:44473301-44496040
Mutations and Diseases : HGMDCBS
OMIM236200    613381   
MedgenCBS
NextProtP35520 [Medical]
GENETestsCBS
Disease Genetic AssociationCBS
Huge Navigator CBS [HugePedia]  CBS [HugeCancerGEM]
snp3D : Map Gene to Disease875
DGIdb (Drug Gene Interaction db)CBS
General knowledge
Homologs : HomoloGeneCBS
Homology/Alignments : Family Browser (UCSC)CBS
Phylogenetic Trees/Animal Genes : TreeFamCBS
Chemical/Protein Interactions : CTD875
Chemical/Pharm GKB GenePA26123
Clinical trialCBS
Cancer Resource (Charite)ENSG00000160200
Other databases
Probes
Litterature
PubMed303 Pubmed reference(s) in Entrez
CoreMineCBS
GoPubMedCBS
iHOPCBS
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
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Mar 28 14:57:06 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.