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CBS (cystathionine beta-synthase)

Identity

Alias_namescystathionine-beta-synthase
Alias_symbol (synonym)HIP4
Other aliasCBSL
HGNC (Hugo) CBS
LocusID (NCBI) 875
Atlas_Id 364
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 43053191 and ends at 43068404 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)
ATP6V1D (14q23.3) / CBS (21q22.3)B3GALNT1 (3q26.1) / CBS (21q22.3)CBS (21q22.3) / CBS (21q22.3)
CBS (21q22.3) / SEMA4B (15q26.1)CHI3L1 (1q32.1) / CBS (21q22.3)CTSB (8p23.1) / CBS (21q22.3)
CTTN (11q13.3) / CBS (21q22.3)ITM2B (13q14.2) / CBS (21q22.3)ATP6V1D 14q23.3 / CBS 21q22.3
CHI3L1 1q32.1 / CBS 21q22.3CTSB 8p23.1 / CBS 21q22.3CTTN 11q13.3 / CBS 21q22.3
ITM2B 13q14.2 / CBS 21q22.3

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 ]
  +21 or trisomy 21

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(1;21)(q32;q22) CHI3L1/CBS
t(8;21)(p23;q22) CTSB/CBS
t(11;21)(q13;q22) CTTN/CBS
t(13;21)(q14;q22) ITM2B/CBS
t(14;21)(q23;q22) ATP6V1D/CBS

External links

Nomenclature
HGNC (Hugo)CBS   1550
LRG (Locus Reference Genomic)LRG_777
Cards
Entrez_Gene (NCBI)CBS  875  cystathionine beta-synthase
AliasesCBSL; HIP4
GeneCards (Weizmann)CBS
Ensembl hg19 (Hinxton)ENSG00000160200 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160200 [Gene_View]  ENSG00000160200 [Sequence]  chr21:43053191-43068404 [Contig_View]  CBS [Vega]
ICGC DataPortalENSG00000160200
TCGA cBioPortalCBS
AceView (NCBI)CBS
Genatlas (Paris)CBS
WikiGenes875
SOURCE (Princeton)CBS
Genetics Home Reference (NIH)CBS
Genomic and cartography
GoldenPath hg38 (UCSC)CBS  -     chr21:43053191-43068404 -  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CBS  -     21q22.3   [Description]    (hg19-Feb_2009)
GoldenPathCBS - 21q22.3 [CytoView hg19]  CBS - 21q22.3 [CytoView hg38]
ImmunoBaseENSG00000160200
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 NM_001320298 NM_001321072
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CBS
Alternative Splicing GalleryENSG00000160200
Gene ExpressionCBS [ NCBI-GEO ]   CBS [ EBI - ARRAY_EXPRESS ]   CBS [ SEEK ]   CBS [ MEM ]
Gene Expression Viewer (FireBrowse)CBS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)875
GTEX Portal (Tissue expression)CBS
Human Protein AtlasENSG00000160200-CBS [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35520   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35520  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35520
Splice isoforms : SwissVarP35520
PhosPhoSitePlusP35520
Domaine pattern : Prosite (Expaxy)CBS (PS51371)    CYS_SYNTHASE (PS00901)   
Domains : Interpro (EBI)CBS_dom    Cysta_beta_synth    P-phosphate_BS    PLP-dep    Trypto_synt_PLP_dependent   
Domain families : Pfam (Sanger)CBS (PF00571)    PALP (PF00291)   
Domain families : Pfam (NCBI)pfam00571    pfam00291   
Domain families : Smart (EMBL)CBS (SM00116)  
Conserved Domain (NCBI)CBS
DMDM Disease mutations875
Blocks (Seattle)CBS
PDB (RSDB)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V    4PCU    4UUU    5MMS   
PDB Europe1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V    4PCU    4UUU    5MMS   
PDB (PDBSum)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V    4PCU    4UUU    5MMS   
PDB (IMB)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V    4PCU    4UUU    5MMS   
Structural Biology KnowledgeBase1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V    4PCU    4UUU    5MMS   
SCOP (Structural Classification of Proteins)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V    4PCU    4UUU    5MMS   
CATH (Classification of proteins structures)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V    4PCU    4UUU    5MMS   
SuperfamilyP35520
Human Protein Atlas [tissue]ENSG00000160200-CBS [tissue]
Peptide AtlasP35520
HPRD01994
IPIIPI00219352   IPI00219649   IPI01012205   IPI01013547   IPI00930086   IPI00794609   IPI00792672   IPI00795559   
Protein Interaction databases
DIP (DOE-UCLA)P35520
IntAct (EBI)P35520
FunCoupENSG00000160200
BioGRIDCBS
STRING (EMBL)CBS
ZODIACCBS
Ontologies - Pathways
QuickGOP35520
Ontology : AmiGOcystathionine beta-synthase activity  cysteine synthase activity  protein binding  nucleus  cytoplasm  cytoplasm  cytosol  cytosol  cysteine biosynthetic process from serine  L-serine metabolic process  L-serine catabolic process  cysteine biosynthetic process via cystathionine  cysteine biosynthetic process  transsulfuration  transsulfuration  L-cysteine catabolic process  oxygen binding  enzyme binding  heme binding  heme binding  heme binding  pyridoxal phosphate binding  pyridoxal phosphate binding  ubiquitin protein ligase binding  DNA protection  identical protein binding  protein homodimerization activity  homocysteine catabolic process  metal ion binding  nitrite reductase (NO-forming) activity  homocysteine metabolic process  homocysteine metabolic process  oxidation-reduction process  carbon monoxide binding  nitric oxide binding  hydrogen sulfide biosynthetic process  hydrogen sulfide biosynthetic process  hydrogen sulfide biosynthetic process  modified amino acid binding  S-adenosyl-L-methionine binding  
Ontology : EGO-EBIcystathionine beta-synthase activity  cysteine synthase activity  protein binding  nucleus  cytoplasm  cytoplasm  cytosol  cytosol  cysteine biosynthetic process from serine  L-serine metabolic process  L-serine catabolic process  cysteine biosynthetic process via cystathionine  cysteine biosynthetic process  transsulfuration  transsulfuration  L-cysteine catabolic process  oxygen binding  enzyme binding  heme binding  heme binding  heme binding  pyridoxal phosphate binding  pyridoxal phosphate binding  ubiquitin protein ligase binding  DNA protection  identical protein binding  protein homodimerization activity  homocysteine catabolic process  metal ion binding  nitrite reductase (NO-forming) activity  homocysteine metabolic process  homocysteine metabolic process  oxidation-reduction process  carbon monoxide binding  nitric oxide binding  hydrogen sulfide biosynthetic process  hydrogen sulfide biosynthetic process  hydrogen sulfide biosynthetic process  modified amino acid binding  S-adenosyl-L-methionine binding  
Pathways : KEGGGlycine, serine and threonine metabolism    Cysteine and methionine metabolism   
NDEx NetworkCBS
Atlas of Cancer Signalling NetworkCBS
Wikipedia pathwaysCBS
Orthology - Evolution
OrthoDB875
GeneTree (enSembl)ENSG00000160200
Phylogenetic Trees/Animal Genes : TreeFamCBS
HOGENOMP35520
Homologs : HomoloGeneCBS
Homology/Alignments : Family Browser (UCSC)CBS
Gene fusions - Rearrangements
Fusion : MitelmanATP6V1D/CBS [14q23.3/21q22.3]  [t(14;21)(q23;q22)]  
Fusion : MitelmanCHI3L1/CBS [1q32.1/21q22.3]  [t(1;21)(q32;q22)]  
Fusion : MitelmanCTSB/CBS [8p23.1/21q22.3]  [t(8;21)(p23;q22)]  
Fusion : MitelmanCTTN/CBS [11q13.3/21q22.3]  [t(11;21)(q13;q22)]  
Fusion : MitelmanITM2B/CBS [13q14.2/21q22.3]  [t(13;21)(q14;q22)]  
Fusion PortalATP6V1D 14q23.3 CBS 21q22.3 PRAD
Fusion PortalCHI3L1 1q32.1 CBS 21q22.3 THCA
Fusion PortalCTSB 8p23.1 CBS 21q22.3 THCA
Fusion PortalCTTN 11q13.3 CBS 21q22.3 HNSC
Fusion PortalITM2B 13q14.2 CBS 21q22.3 PRAD
Fusion : QuiverCBS
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCBS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CBS
dbVarCBS
ClinVarCBS
1000_GenomesCBS 
Exome Variant ServerCBS
ExAC (Exome Aggregation Consortium)ENSG00000160200
GNOMAD BrowserENSG00000160200
Varsome BrowserCBS
Genetic variants : HAPMAP875
Genomic Variants (DGV)CBS [DGVbeta]
DECIPHERCBS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCBS 
Mutations
ICGC Data PortalCBS 
TCGA Data PortalCBS 
Broad Tumor PortalCBS
OASIS PortalCBS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCBS  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCBS
Mutations and Diseases : HGMDCBS
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
BioMutasearch CBS
DgiDB (Drug Gene Interaction Database)CBS
DoCM (Curated mutations)CBS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CBS (select a term)
intoGenCBS
Cancer3DCBS(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM236200    613381   
Orphanet173   
DisGeNETCBS
MedgenCBS
Genetic Testing Registry CBS
NextProtP35520 [Medical]
TSGene875
GENETestsCBS
Target ValidationCBS
Huge Navigator CBS [HugePedia]
snp3D : Map Gene to Disease875
BioCentury BCIQCBS
ClinGenCBS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD875
Chemical/Pharm GKB GenePA26123
Clinical trialCBS
Miscellaneous
canSAR (ICR)CBS (select the gene name)
HarmonizomeCBS
DataMed IndexCBS
Probes
Litterature
PubMed368 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCBS
EVEXCBS
GoPubMedCBS
iHOPCBS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 10 12:09:11 CEST 2020
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