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PCMTD1 (protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1)

Identity

Alias_symbol (synonym)FLJ10883
Other alias-
HGNC (Hugo) PCMTD1
LocusID (NCBI) 115294
Atlas_Id 71764
Location 8q11.23  [Link to chromosome band 8q11]
Location_base_pair Starts at 51817575 and ends at 51899186 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AGO2 (8q24.3) / PCMTD1 (8q11.23)PCMTD1 (8q11.23) / DCDC2 (6p22.3)PCMTD1 (8q11.23) / FDFT1 (8p23.1)
PCMTD1 (8q11.23) / KLHDC8A (1q32.1)PCMTD1 (8q11.23) / MSN (Xq12)PCMTD1 (8q11.23) / PRKAR1B (7p22.3)
PCMTD1 (8q11.23) / RB1CC1 (8q11.23)PCMTD1 (8q11.23) / RHOT1 (17q11.2)PCMTD1 (8q11.23) / ST18 (8q11.23)
PCMTD1 (8q11.23) / WDR97 (8q24.3)PCMTD1 (8q11.23) / WRN (8p12)PPP2R2A (8p21.2) / PCMTD1 (8q11.23)
PCMTD1 RHOT1PCMTD1 ST18PCMTD1 WRN
PCMTD1 RB1CC1PCMTD1 KIAA1875PCMTD1 KLHDC8A

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)PCMTD1   30483
Cards
Entrez_Gene (NCBI)PCMTD1  115294  protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
Aliases
GeneCards (Weizmann)PCMTD1
Ensembl hg19 (Hinxton)ENSG00000168300 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168300 [Gene_View]  chr8:51817575-51899186 [Contig_View]  PCMTD1 [Vega]
ICGC DataPortalENSG00000168300
TCGA cBioPortalPCMTD1
AceView (NCBI)PCMTD1
Genatlas (Paris)PCMTD1
WikiGenes115294
SOURCE (Princeton)PCMTD1
Genetics Home Reference (NIH)PCMTD1
Genomic and cartography
GoldenPath hg38 (UCSC)PCMTD1  -     chr8:51817575-51899186 -  8q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCMTD1  -     8q11.23   [Description]    (hg19-Feb_2009)
EnsemblPCMTD1 - 8q11.23 [CytoView hg19]  PCMTD1 - 8q11.23 [CytoView hg38]
Mapping of homologs : NCBIPCMTD1 [Mapview hg19]  PCMTD1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF293366 AK056952 AK304196 AK304332 AL833027
RefSeq transcript (Entrez)NM_001286782 NM_001286783 NM_052937
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCMTD1
Cluster EST : UnigeneHs.671268 [ NCBI ]
CGAP (NCI)Hs.671268
Alternative Splicing GalleryENSG00000168300
Gene ExpressionPCMTD1 [ NCBI-GEO ]   PCMTD1 [ EBI - ARRAY_EXPRESS ]   PCMTD1 [ SEEK ]   PCMTD1 [ MEM ]
Gene Expression Viewer (FireBrowse)PCMTD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)115294
GTEX Portal (Tissue expression)PCMTD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96MG8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96MG8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96MG8
Splice isoforms : SwissVarQ96MG8
PhosPhoSitePlusQ96MG8
Domains : Interpro (EBI)PCMT    SAM-dependent_MTases   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)PCMTD1
DMDM Disease mutations115294
Blocks (Seattle)PCMTD1
SuperfamilyQ96MG8
Human Protein AtlasENSG00000168300
Peptide AtlasQ96MG8
HPRD08313
IPIIPI00162744   IPI00718829   IPI00029676   IPI00980702   IPI00985378   
Protein Interaction databases
DIP (DOE-UCLA)Q96MG8
IntAct (EBI)Q96MG8
FunCoupENSG00000168300
BioGRIDPCMTD1
STRING (EMBL)PCMTD1
ZODIACPCMTD1
Ontologies - Pathways
QuickGOQ96MG8
Ontology : AmiGOprotein-L-isoaspartate (D-aspartate) O-methyltransferase activity  cytoplasm  protein methylation  membrane  
Ontology : EGO-EBIprotein-L-isoaspartate (D-aspartate) O-methyltransferase activity  cytoplasm  protein methylation  membrane  
NDEx NetworkPCMTD1
Atlas of Cancer Signalling NetworkPCMTD1
Wikipedia pathwaysPCMTD1
Orthology - Evolution
OrthoDB115294
GeneTree (enSembl)ENSG00000168300
Phylogenetic Trees/Animal Genes : TreeFamPCMTD1
HOVERGENQ96MG8
HOGENOMQ96MG8
Homologs : HomoloGenePCMTD1
Homology/Alignments : Family Browser (UCSC)PCMTD1
Gene fusions - Rearrangements
Fusion: TCGAPCMTD1 RHOT1
Fusion: TCGAPCMTD1 ST18
Fusion: TCGAPCMTD1 WRN
Fusion: TCGAPCMTD1 RB1CC1
Fusion: TCGAPCMTD1 KIAA1875
Fusion: TCGAPCMTD1 KLHDC8A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCMTD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCMTD1
dbVarPCMTD1
ClinVarPCMTD1
1000_GenomesPCMTD1 
Exome Variant ServerPCMTD1
ExAC (Exome Aggregation Consortium)PCMTD1 (select the gene name)
Genetic variants : HAPMAP115294
Genomic Variants (DGV)PCMTD1 [DGVbeta]
DECIPHERPCMTD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCMTD1 
Mutations
ICGC Data PortalPCMTD1 
TCGA Data PortalPCMTD1 
Broad Tumor PortalPCMTD1
OASIS PortalPCMTD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCMTD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCMTD1
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 PCMTD1
DgiDB (Drug Gene Interaction Database)PCMTD1
DoCM (Curated mutations)PCMTD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCMTD1 (select a term)
intoGenPCMTD1
Cancer3DPCMTD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenPCMTD1
Genetic Testing Registry PCMTD1
NextProtQ96MG8 [Medical]
TSGene115294
GENETestsPCMTD1
Target ValidationPCMTD1
Huge Navigator PCMTD1 [HugePedia]
snp3D : Map Gene to Disease115294
BioCentury BCIQPCMTD1
ClinGenPCMTD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD115294
Chemical/Pharm GKB GenePA142671194
Clinical trialPCMTD1
Miscellaneous
canSAR (ICR)PCMTD1 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCMTD1
EVEXPCMTD1
GoPubMedPCMTD1
iHOPPCMTD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:34:11 CEST 2017

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