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CHPT1 (choline phosphotransferase 1)

Identity

Alias_symbol (synonym)CPT1
Other aliasCPT
HGNC (Hugo) CHPT1
LocusID (NCBI) 56994
Atlas_Id 46178
Location 12q23.2  [Link to chromosome band 12q23]
Location_base_pair Starts at 101697639 and ends at 101729068 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)
CHPT1 (12q23.2) / CHPT1 (12q23.2)CHPT1 (12q23.2) / MYBPC1 (12q23.2)CHPT1 (12q23.2) / UTP20 (12q23.2)
PTPRR (12q15) / CHPT1 (12q23.2)CHPT1 12q23.2 / MYBPC1 12q23.2PTPRR 12q15 / CHPT1 12q23.2

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Lung: Translocations in Small Cell Carcinoma
t(12;12)(q15;q23) PTPRR/CHPT1
CHPT1/MYBPC1 (12q23)
CHPT1/UTP20 (12q23)


External links

Nomenclature
HGNC (Hugo)CHPT1   17852
Cards
Entrez_Gene (NCBI)CHPT1  56994  choline phosphotransferase 1
AliasesCPT; CPT1
GeneCards (Weizmann)CHPT1
Ensembl hg19 (Hinxton)ENSG00000111666 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111666 [Gene_View]  ENSG00000111666 [Sequence]  chr12:101697639-101729068 [Contig_View]  CHPT1 [Vega]
ICGC DataPortalENSG00000111666
TCGA cBioPortalCHPT1
AceView (NCBI)CHPT1
Genatlas (Paris)CHPT1
WikiGenes56994
SOURCE (Princeton)CHPT1
Genetics Home Reference (NIH)CHPT1
Genomic and cartography
GoldenPath hg38 (UCSC)CHPT1  -     chr12:101697639-101729068 +  12q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHPT1  -     12q23.2   [Description]    (hg19-Feb_2009)
EnsemblCHPT1 - 12q23.2 [CytoView hg19]  CHPT1 - 12q23.2 [CytoView hg38]
Mapping of homologs : NCBICHPT1 [Mapview hg19]  CHPT1 [Mapview hg38]
OMIM616747   
Gene and transcription
Genbank (Entrez)AF047431 AF111803 AF195623 AF195624 AK075211
RefSeq transcript (Entrez)NM_020244
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHPT1
Cluster EST : UnigeneHs.293077 [ NCBI ]
CGAP (NCI)Hs.293077
Alternative Splicing GalleryENSG00000111666
Gene ExpressionCHPT1 [ NCBI-GEO ]   CHPT1 [ EBI - ARRAY_EXPRESS ]   CHPT1 [ SEEK ]   CHPT1 [ MEM ]
Gene Expression Viewer (FireBrowse)CHPT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56994
GTEX Portal (Tissue expression)CHPT1
Human Protein AtlasENSG00000111666-CHPT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WUD6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WUD6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WUD6
Splice isoforms : SwissVarQ8WUD6
Catalytic activity : Enzyme2.7.8.2 [ Enzyme-Expasy ]   2.7.8.22.7.8.2 [ IntEnz-EBI ]   2.7.8.2 [ BRENDA ]   2.7.8.2 [ KEGG ]   
PhosPhoSitePlusQ8WUD6
Domaine pattern : Prosite (Expaxy)CDP_ALCOHOL_P_TRANSF (PS00379)   
Domains : Interpro (EBI)CDP-OH_P_trans    CHOPT   
Domain families : Pfam (Sanger)CDP-OH_P_transf (PF01066)   
Domain families : Pfam (NCBI)pfam01066   
Conserved Domain (NCBI)CHPT1
DMDM Disease mutations56994
Blocks (Seattle)CHPT1
SuperfamilyQ8WUD6
Human Protein Atlas [tissue]ENSG00000111666-CHPT1 [tissue]
Peptide AtlasQ8WUD6
HPRD13052
IPIIPI00329548   IPI00792004   IPI01015997   IPI01020740   IPI01021682   IPI01023026   IPI01020904   
Protein Interaction databases
DIP (DOE-UCLA)Q8WUD6
IntAct (EBI)Q8WUD6
FunCoupENSG00000111666
BioGRIDCHPT1
STRING (EMBL)CHPT1
ZODIACCHPT1
Ontologies - Pathways
QuickGOQ8WUD6
Ontology : AmiGOGolgi membrane  regulation of cell growth  diacylglycerol cholinephosphotransferase activity  diacylglycerol cholinephosphotransferase activity  diacylglycerol cholinephosphotransferase activity  endoplasmic reticulum membrane  Golgi apparatus  lipid metabolic process  phosphatidylcholine biosynthetic process  phosphatidylcholine biosynthetic process  CDP-choline pathway  platelet activating factor biosynthetic process  membrane  integral component of membrane  phosphotransferase activity, for other substituted phosphate groups  diacylglycerol binding  intracellular membrane-bounded organelle  metal ion binding  
Ontology : EGO-EBIGolgi membrane  regulation of cell growth  diacylglycerol cholinephosphotransferase activity  diacylglycerol cholinephosphotransferase activity  diacylglycerol cholinephosphotransferase activity  endoplasmic reticulum membrane  Golgi apparatus  lipid metabolic process  phosphatidylcholine biosynthetic process  phosphatidylcholine biosynthetic process  CDP-choline pathway  platelet activating factor biosynthetic process  membrane  integral component of membrane  phosphotransferase activity, for other substituted phosphate groups  diacylglycerol binding  intracellular membrane-bounded organelle  metal ion binding  
Pathways : KEGGGlycerophospholipid metabolism    Ether lipid metabolism   
NDEx NetworkCHPT1
Atlas of Cancer Signalling NetworkCHPT1
Wikipedia pathwaysCHPT1
Orthology - Evolution
OrthoDB56994
GeneTree (enSembl)ENSG00000111666
Phylogenetic Trees/Animal Genes : TreeFamCHPT1
HOVERGENQ8WUD6
HOGENOMQ8WUD6
Homologs : HomoloGeneCHPT1
Homology/Alignments : Family Browser (UCSC)CHPT1
Gene fusions - Rearrangements
Fusion : MitelmanCHPT1/MYBPC1 [12q23.2/12q23.2]  
Fusion : MitelmanCHPT1/UTP20 [12q23.2/12q23.2]  [t(12;12)(q23;q23)]  
Fusion : MitelmanPTPRR/CHPT1 [12q15/12q23.2]  [t(12;12)(q15;q23)]  
Fusion PortalCHPT1 12q23.2 MYBPC1 12q23.2 BRCA
Fusion PortalPTPRR 12q15 CHPT1 12q23.2 BLCA
Fusion : QuiverCHPT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHPT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHPT1
dbVarCHPT1
ClinVarCHPT1
1000_GenomesCHPT1 
Exome Variant ServerCHPT1
ExAC (Exome Aggregation Consortium)ENSG00000111666
GNOMAD BrowserENSG00000111666
Varsome BrowserCHPT1
Genetic variants : HAPMAP56994
Genomic Variants (DGV)CHPT1 [DGVbeta]
DECIPHERCHPT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHPT1 
Mutations
ICGC Data PortalCHPT1 
TCGA Data PortalCHPT1 
Broad Tumor PortalCHPT1
OASIS PortalCHPT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHPT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHPT1
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 CHPT1
DgiDB (Drug Gene Interaction Database)CHPT1
DoCM (Curated mutations)CHPT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHPT1 (select a term)
intoGenCHPT1
Cancer3DCHPT1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616747   
Orphanet
DisGeNETCHPT1
MedgenCHPT1
Genetic Testing Registry CHPT1
NextProtQ8WUD6 [Medical]
TSGene56994
GENETestsCHPT1
Target ValidationCHPT1
Huge Navigator CHPT1 [HugePedia]
snp3D : Map Gene to Disease56994
BioCentury BCIQCHPT1
ClinGenCHPT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56994
Chemical/Pharm GKB GenePA26477
Clinical trialCHPT1
Miscellaneous
canSAR (ICR)CHPT1 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHPT1
EVEXCHPT1
GoPubMedCHPT1
iHOPCHPT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 10:58:13 CET 2018

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