Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PCYT1B (phosphate cytidylyltransferase 1, choline, beta)

Identity

Alias_namesphosphate cytidylyltransferase 1, choline, beta isoform
Alias_symbol (synonym)CCT-beta
CTB
Other aliasCCTB
HGNC (Hugo) PCYT1B
LocusID (NCBI) 9468
Atlas_Id 71779
Location Xp22.11  [Link to chromosome band Xp22]
Location_base_pair Starts at 24576204 and ends at 24690979 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PCYT1B (Xp22.11) / GALNT1 (18q12.2)PCYT1B (Xp22.11) / SIAH1 (16q12.1)

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)PCYT1B   8755
Cards
Entrez_Gene (NCBI)PCYT1B  9468  phosphate cytidylyltransferase 1, choline, beta
AliasesCCTB; CTB
GeneCards (Weizmann)PCYT1B
Ensembl hg19 (Hinxton)ENSG00000102230 [Gene_View]  chrX:24576204-24690979 [Contig_View]  PCYT1B [Vega]
Ensembl hg38 (Hinxton)ENSG00000102230 [Gene_View]  chrX:24576204-24690979 [Contig_View]  PCYT1B [Vega]
ICGC DataPortalENSG00000102230
TCGA cBioPortalPCYT1B
AceView (NCBI)PCYT1B
Genatlas (Paris)PCYT1B
WikiGenes9468
SOURCE (Princeton)PCYT1B
Genetics Home Reference (NIH)PCYT1B
Genomic and cartography
GoldenPath hg19 (UCSC)PCYT1B  -     chrX:24576204-24690979 -  Xp22.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PCYT1B  -     Xp22.11   [Description]    (hg38-Dec_2013)
EnsemblPCYT1B - Xp22.11 [CytoView hg19]  PCYT1B - Xp22.11 [CytoView hg38]
Mapping of homologs : NCBIPCYT1B [Mapview hg19]  PCYT1B [Mapview hg38]
OMIM300948   
Gene and transcription
Genbank (Entrez)AF052510 AF148464 AK022741 AK226121 AK296333
RefSeq transcript (Entrez)NM_001163264 NM_001163265 NM_004845
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_013253 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)PCYT1B
Cluster EST : UnigeneHs.660708 [ NCBI ]
CGAP (NCI)Hs.660708
Alternative Splicing GalleryENSG00000102230
Gene ExpressionPCYT1B [ NCBI-GEO ]   PCYT1B [ EBI - ARRAY_EXPRESS ]   PCYT1B [ SEEK ]   PCYT1B [ MEM ]
Gene Expression Viewer (FireBrowse)PCYT1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9468
GTEX Portal (Tissue expression)PCYT1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5K3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5K3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5K3
Splice isoforms : SwissVarQ9Y5K3
Catalytic activity : Enzyme2.7.7.15 [ Enzyme-Expasy ]   2.7.7.152.7.7.15 [ IntEnz-EBI ]   2.7.7.15 [ BRENDA ]   2.7.7.15 [ KEGG ]   
PhosPhoSitePlusQ9Y5K3
Domains : Interpro (EBI)Cyt_trans-like    Rossmann-like_a/b/a_fold   
Domain families : Pfam (Sanger)CTP_transf_2 (PF01467)   
Domain families : Pfam (NCBI)pfam01467   
Conserved Domain (NCBI)PCYT1B
DMDM Disease mutations9468
Blocks (Seattle)PCYT1B
SuperfamilyQ9Y5K3
Human Protein AtlasENSG00000102230
Peptide AtlasQ9Y5K3
HPRD05376
IPIIPI00001562   IPI00219338   IPI00640025   IPI00980843   IPI00974296   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5K3
IntAct (EBI)Q9Y5K3
FunCoupENSG00000102230
BioGRIDPCYT1B
STRING (EMBL)PCYT1B
ZODIACPCYT1B
Ontologies - Pathways
QuickGOQ9Y5K3
Ontology : AmiGOovarian follicle development  choline-phosphate cytidylyltransferase activity  cytoplasm  endoplasmic reticulum membrane  phospholipid metabolic process  phosphatidylcholine biosynthetic process  CDP-choline pathway  CDP-choline pathway  spermatogenesis  small molecule metabolic process  glycerophospholipid biosynthetic process  
Ontology : EGO-EBIovarian follicle development  choline-phosphate cytidylyltransferase activity  cytoplasm  endoplasmic reticulum membrane  phospholipid metabolic process  phosphatidylcholine biosynthetic process  CDP-choline pathway  CDP-choline pathway  spermatogenesis  small molecule metabolic process  glycerophospholipid biosynthetic process  
Pathways : KEGGGlycerophospholipid metabolism   
NDEx NetworkPCYT1B
Atlas of Cancer Signalling NetworkPCYT1B
Wikipedia pathwaysPCYT1B
Orthology - Evolution
OrthoDB9468
GeneTree (enSembl)ENSG00000102230
Phylogenetic Trees/Animal Genes : TreeFamPCYT1B
HOVERGENQ9Y5K3
HOGENOMQ9Y5K3
Homologs : HomoloGenePCYT1B
Homology/Alignments : Family Browser (UCSC)PCYT1B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCYT1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCYT1B
dbVarPCYT1B
ClinVarPCYT1B
1000_GenomesPCYT1B 
Exome Variant ServerPCYT1B
ExAC (Exome Aggregation Consortium)PCYT1B (select the gene name)
Genetic variants : HAPMAP9468
Genomic Variants (DGV)PCYT1B [DGVbeta]
DECIPHER (Syndromes)X:24576204-24690979  ENSG00000102230
CONAN: Copy Number AnalysisPCYT1B 
Mutations
ICGC Data PortalPCYT1B 
TCGA Data PortalPCYT1B 
Broad Tumor PortalPCYT1B
OASIS PortalPCYT1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCYT1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCYT1B
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)X-chromosome gene database
BioMutasearch PCYT1B
DgiDB (Drug Gene Interaction Database)PCYT1B
DoCM (Curated mutations)PCYT1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCYT1B (select a term)
intoGenPCYT1B
Cancer3DPCYT1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300948   
Orphanet
MedgenPCYT1B
Genetic Testing Registry PCYT1B
NextProtQ9Y5K3 [Medical]
TSGene9468
GENETestsPCYT1B
Huge Navigator PCYT1B [HugePedia]
snp3D : Map Gene to Disease9468
BioCentury BCIQPCYT1B
ClinGenPCYT1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9468
Chemical/Pharm GKB GenePA33100
Clinical trialPCYT1B
Miscellaneous
canSAR (ICR)PCYT1B (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCYT1B
EVEXPCYT1B
GoPubMedPCYT1B
iHOPPCYT1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:38:12 CET 2017

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