Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PEMT (phosphatidylethanolamine N-methyltransferase)

Identity

Alias_symbol (synonym)PEMPT
PEMT2
Other aliasPEAMT
PLMT
PNMT
HGNC (Hugo) PEMT
LocusID (NCBI) 10400
Atlas_Id 45554
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 17505563 and ends at 17577496 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)
ARFGAP2 (11p11.2) / PEMT (17p11.2)LRRC75A (17p11.2) / PEMT (17p11.2)PEMT (17p11.2) / B4GALNT2 (17q21.32)
PEMT (17p11.2) / NEU3 (11q13.4)PEMT (17p11.2) / RAI1 (17p11.2)PEMT (17p11.2) / SCNN1A (12p13.31)
PEMT (17p11.2) / SLC35B1 (17q21.33)RAI1 (17p11.2) / PEMT (17p11.2)C17orf76 PEMT 17p11.2
PEMT 17p11.2 / B4GALNT2 17q21.32PEMT 17p11.2 / NEU3 11q13.4PEMT 17p11.2 / RAI1 17p11.2
RAI1 17p11.2 / PEMT 17p11.2

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 ]
  t(11;17)(q13;p11) PEMT/NEU3
PEMT/RAI1 (17p11)
RAI1/PEMT (17p11)
t(17;17)(p11;q21) PEMT/B4GALNT2

External links

Nomenclature
HGNC (Hugo)PEMT   8830
Cards
Entrez_Gene (NCBI)PEMT  10400  phosphatidylethanolamine N-methyltransferase
AliasesPEAMT; PEMPT; PEMT2; PLMT; 
PNMT
GeneCards (Weizmann)PEMT
Ensembl hg19 (Hinxton)ENSG00000133027 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133027 [Gene_View]  ENSG00000133027 [Sequence]  chr17:17505563-17577496 [Contig_View]  PEMT [Vega]
ICGC DataPortalENSG00000133027
TCGA cBioPortalPEMT
AceView (NCBI)PEMT
Genatlas (Paris)PEMT
WikiGenes10400
SOURCE (Princeton)PEMT
Genetics Home Reference (NIH)PEMT
Genomic and cartography
GoldenPath hg38 (UCSC)PEMT  -     chr17:17505563-17577496 -  17p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PEMT  -     17p11.2   [Description]    (hg19-Feb_2009)
GoldenPathPEMT - 17p11.2 [CytoView hg19]  PEMT - 17p11.2 [CytoView hg38]
Genome Data Viewer NCBIPEMT [Mapview hg19]  
OMIM602391   
Gene and transcription
Genbank (Entrez)AB029821 AF044214 AF113126 AF176806 AF176807
RefSeq transcript (Entrez)NM_001267551 NM_001267552 NM_007169 NM_148172 NM_148173
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PEMT
Alternative Splicing GalleryENSG00000133027
Gene ExpressionPEMT [ NCBI-GEO ]   PEMT [ EBI - ARRAY_EXPRESS ]   PEMT [ SEEK ]   PEMT [ MEM ]
Gene Expression Viewer (FireBrowse)PEMT [ Firebrowse - Broad ]
GenevisibleExpression of PEMT in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10400
GTEX Portal (Tissue expression)PEMT
Human Protein AtlasENSG00000133027-PEMT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBM1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBM1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBM1
Splice isoforms : SwissVarQ9UBM1
PhosPhoSitePlusQ9UBM1
Domaine pattern : Prosite (Expaxy)SAM_PEMT_PEM2 (PS51599)   
Domains : Interpro (EBI)PEMT/MFAP    Phopholipid_MeTrfase   
Domain families : Pfam (Sanger)PEMT (PF04191)   
Domain families : Pfam (NCBI)pfam04191   
Conserved Domain (NCBI)PEMT
DMDM Disease mutations10400
SuperfamilyQ9UBM1
Human Protein Atlas [tissue]ENSG00000133027-PEMT [tissue]
Peptide AtlasQ9UBM1
HPRD03862
IPIIPI00328909   IPI00328921   IPI00791039   IPI00791085   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBM1
IntAct (EBI)Q9UBM1
FunCoupENSG00000133027
BioGRIDPEMT
STRING (EMBL)PEMT
ZODIACPEMT
Ontologies - Pathways
QuickGOQ9UBM1
Ontology : AmiGOphosphatidyl-N-methylethanolamine N-methyltransferase activity  blastocyst hatching  phosphatidylethanolamine N-methyltransferase activity  phosphatidylethanolamine N-methyltransferase activity  endoplasmic reticulum membrane  phosphatidylcholine biosynthetic process  phosphatidylcholine biosynthetic process  phosphatidylcholine biosynthetic process  sphingomyelin biosynthetic process  negative regulation of cell proliferation  phosphatidylethanolamine binding  integral component of membrane  brush border membrane  mitochondrial membrane  methylation  response to vitamin  sarcolemma  response to amino acid  response to ethanol  S-adenosylhomocysteine metabolic process  S-adenosylmethionine metabolic process  positive regulation of lipoprotein metabolic process  phosphatidyl-N-dimethylethanolamine N-methyltransferase activity  positive regulation of cold-induced thermogenesis  
Ontology : EGO-EBIphosphatidyl-N-methylethanolamine N-methyltransferase activity  blastocyst hatching  phosphatidylethanolamine N-methyltransferase activity  phosphatidylethanolamine N-methyltransferase activity  endoplasmic reticulum membrane  phosphatidylcholine biosynthetic process  phosphatidylcholine biosynthetic process  phosphatidylcholine biosynthetic process  sphingomyelin biosynthetic process  negative regulation of cell proliferation  phosphatidylethanolamine binding  integral component of membrane  brush border membrane  mitochondrial membrane  methylation  response to vitamin  sarcolemma  response to amino acid  response to ethanol  S-adenosylhomocysteine metabolic process  S-adenosylmethionine metabolic process  positive regulation of lipoprotein metabolic process  phosphatidyl-N-dimethylethanolamine N-methyltransferase activity  positive regulation of cold-induced thermogenesis  
Pathways : KEGGGlycerophospholipid metabolism   
NDEx NetworkPEMT
Atlas of Cancer Signalling NetworkPEMT
Wikipedia pathwaysPEMT
Orthology - Evolution
OrthoDB10400
GeneTree (enSembl)ENSG00000133027
Phylogenetic Trees/Animal Genes : TreeFamPEMT
HOGENOMQ9UBM1
Homologs : HomoloGenePEMT
Homology/Alignments : Family Browser (UCSC)PEMT
Gene fusions - Rearrangements
Fusion : MitelmanPEMT/B4GALNT2 [17p11.2/17q21.32]  
Fusion : MitelmanPEMT/NEU3 [17p11.2/11q13.4]  
Fusion : MitelmanPEMT/RAI1 [17p11.2/17p11.2]  
Fusion : MitelmanRAI1/PEMT [17p11.2/17p11.2]  
Fusion PortalC17orf76 PEMT 17p11.2 BRCA
Fusion PortalPEMT 17p11.2 B4GALNT2 17q21.32 BRCA
Fusion PortalPEMT 17p11.2 NEU3 11q13.4 BRCA
Fusion PortalPEMT 17p11.2 RAI1 17p11.2 HNSC
Fusion PortalRAI1 17p11.2 PEMT 17p11.2 HNSC
Fusion Cancer (Beijing)PEMT [17p11.2]  -  SLC35B1 [17q21.33]  [FUSC004336]
Fusion : QuiverPEMT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEMT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEMT
dbVarPEMT
ClinVarPEMT
1000_GenomesPEMT 
Exome Variant ServerPEMT
GNOMAD BrowserENSG00000133027
Varsome BrowserPEMT
Genetic variants : HAPMAP10400
Genomic Variants (DGV)PEMT [DGVbeta]
DECIPHERPEMT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPEMT 
Mutations
ICGC Data PortalPEMT 
TCGA Data PortalPEMT 
Broad Tumor PortalPEMT
OASIS PortalPEMT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEMT  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPEMT
Mutations and Diseases : HGMDPEMT
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
BioMutaselect PEMT
DgiDB (Drug Gene Interaction Database)PEMT
DoCM (Curated mutations)PEMT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PEMT (select a term)
intoGenPEMT
Cancer3DPEMT (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602391   
Orphanet
DisGeNETPEMT
MedgenPEMT
Genetic Testing Registry PEMT
NextProtQ9UBM1 [Medical]
TSGene10400
GENETestsPEMT
Open Targets GeneticsENSG00000133027  [validation]
snp3D : Map Gene to Disease10400
BioCentury BCIQPEMT
ClinGenPEMT
Clinical trials, drugs, therapy
Protein Interactions : CTD10400
Pharm GKB GenePA33175
Clinical trialPEMT
Miscellaneous
canSAR (ICR)PEMT (select the gene name)
HarmonizomePEMT
DataMed IndexPEMT
Probes
Litterature
PubMed67 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePEMT
EVEXPEMT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sat Jul 11 20:04:40 CEST 2020
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