Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CEPT1 (choline/ethanolamine phosphotransferase 1)

Identity

Other alias-
HGNC (Hugo) CEPT1
LocusID (NCBI) 10390
Atlas_Id 54213
Location 1p13.3  [Link to chromosome band 1p13]
Location_base_pair Starts at 111682249 and ends at 111727724 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CEPT1 (1p13.3) / DENND5B (12p11.21)CEPT1 (1p13.3) / WDR3 (1p12)

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)CEPT1   24289
Cards
Entrez_Gene (NCBI)CEPT1  10390  choline/ethanolamine phosphotransferase 1
Aliases
GeneCards (Weizmann)CEPT1
Ensembl hg19 (Hinxton)ENSG00000134255 [Gene_View]  chr1:111682249-111727724 [Contig_View]  CEPT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000134255 [Gene_View]  chr1:111682249-111727724 [Contig_View]  CEPT1 [Vega]
ICGC DataPortalENSG00000134255
TCGA cBioPortalCEPT1
AceView (NCBI)CEPT1
Genatlas (Paris)CEPT1
WikiGenes10390
SOURCE (Princeton)CEPT1
Genetics Home Reference (NIH)CEPT1
Genomic and cartography
GoldenPath hg19 (UCSC)CEPT1  -     chr1:111682249-111727724 +  1p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CEPT1  -     1p13.3   [Description]    (hg38-Dec_2013)
EnsemblCEPT1 - 1p13.3 [CytoView hg19]  CEPT1 - 1p13.3 [CytoView hg38]
Mapping of homologs : NCBICEPT1 [Mapview hg19]  CEPT1 [Mapview hg38]
OMIM616751   
Gene and transcription
Genbank (Entrez)AF068302 AF138862 AK023381 AK095229 AL832104
RefSeq transcript (Entrez)NM_001007794 NM_006090
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)CEPT1
Cluster EST : UnigeneHs.636850 [ NCBI ]
CGAP (NCI)Hs.636850
Alternative Splicing GalleryENSG00000134255
Gene ExpressionCEPT1 [ NCBI-GEO ]   CEPT1 [ EBI - ARRAY_EXPRESS ]   CEPT1 [ SEEK ]   CEPT1 [ MEM ]
Gene Expression Viewer (FireBrowse)CEPT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10390
GTEX Portal (Tissue expression)CEPT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6K0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6K0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6K0
Splice isoforms : SwissVarQ9Y6K0
Catalytic activity : Enzyme2.7.8.1 [ Enzyme-Expasy ]   2.7.8.12.7.8.1 [ IntEnz-EBI ]   2.7.8.1 [ BRENDA ]   2.7.8.1 [ KEGG ]   
PhosPhoSitePlusQ9Y6K0
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)CEPT1
DMDM Disease mutations10390
Blocks (Seattle)CEPT1
SuperfamilyQ9Y6K0
Human Protein AtlasENSG00000134255
Peptide AtlasQ9Y6K0
HPRD13024
IPIIPI00005775   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6K0
IntAct (EBI)Q9Y6K0
FunCoupENSG00000134255
BioGRIDCEPT1
STRING (EMBL)CEPT1
ZODIACCEPT1
Ontologies - Pathways
QuickGOQ9Y6K0
Ontology : AmiGOdiacylglycerol cholinephosphotransferase activity  ethanolaminephosphotransferase activity  endoplasmic reticulum membrane  lipid metabolic process  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  phosphatidylcholine biosynthetic process  CDP-choline pathway  CDP-choline pathway  integral component of membrane  nuclear membrane  metal ion binding  
Ontology : EGO-EBIdiacylglycerol cholinephosphotransferase activity  ethanolaminephosphotransferase activity  endoplasmic reticulum membrane  lipid metabolic process  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  phosphatidylcholine biosynthetic process  CDP-choline pathway  CDP-choline pathway  integral component of membrane  nuclear membrane  metal ion binding  
Pathways : KEGGGlycerophospholipid metabolism    Ether lipid metabolism   
NDEx NetworkCEPT1
Atlas of Cancer Signalling NetworkCEPT1
Wikipedia pathwaysCEPT1
Orthology - Evolution
OrthoDB10390
GeneTree (enSembl)ENSG00000134255
Phylogenetic Trees/Animal Genes : TreeFamCEPT1
HOVERGENQ9Y6K0
HOGENOMQ9Y6K0
Homologs : HomoloGeneCEPT1
Homology/Alignments : Family Browser (UCSC)CEPT1
Gene fusions - Rearrangements
Fusion : MitelmanCEPT1/DENND5B [1p13.3/12p11.21]  
Fusion : MitelmanCEPT1/WDR3 [1p13.3/1p12]  [t(1;1)(p12;p13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEPT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEPT1
dbVarCEPT1
ClinVarCEPT1
1000_GenomesCEPT1 
Exome Variant ServerCEPT1
ExAC (Exome Aggregation Consortium)CEPT1 (select the gene name)
Genetic variants : HAPMAP10390
Genomic Variants (DGV)CEPT1 [DGVbeta]
DECIPHER (Syndromes)1:111682249-111727724  ENSG00000134255
CONAN: Copy Number AnalysisCEPT1 
Mutations
ICGC Data PortalCEPT1 
TCGA Data PortalCEPT1 
Broad Tumor PortalCEPT1
OASIS PortalCEPT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCEPT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCEPT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CEPT1
DgiDB (Drug Gene Interaction Database)CEPT1
DoCM (Curated mutations)CEPT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CEPT1 (select a term)
intoGenCEPT1
Cancer3DCEPT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616751   
Orphanet
MedgenCEPT1
Genetic Testing Registry CEPT1
NextProtQ9Y6K0 [Medical]
TSGene10390
GENETestsCEPT1
Huge Navigator CEPT1 [HugePedia]
snp3D : Map Gene to Disease10390
BioCentury BCIQCEPT1
ClinGenCEPT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10390
Chemical/Pharm GKB GenePA134892657
Clinical trialCEPT1
Miscellaneous
canSAR (ICR)CEPT1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCEPT1
EVEXCEPT1
GoPubMedCEPT1
iHOPCEPT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 14:56:15 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.