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

Identity

Alias (NCBI)-
HGNC (Hugo) PCMTD1
HGNC Alias symbFLJ10883
LocusID (NCBI) 115294
Atlas_Id 71764
Location 8q11.23  [Link to chromosome band 8q11]
Location_base_pair Starts at 51817583 and ends at 51899036 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)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(7;8)(p22;q11) PCMTD1/PRKAR1B
t(7;8)(p22;q11) PCMTD1/PRKAR1B


External links

 

Nomenclature
HGNC (Hugo)PCMTD1   30483
Cards
Entrez_Gene (NCBI)PCMTD1    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]  ENSG00000168300 [Sequence]  chr8:51817583-51899036 [Contig_View]  PCMTD1 [Vega]
ICGC DataPortalENSG00000168300
TCGA cBioPortalPCMTD1
AceView (NCBI)PCMTD1
Genatlas (Paris)PCMTD1
SOURCE (Princeton)PCMTD1
Genetics Home Reference (NIH)PCMTD1
Genomic and cartography
GoldenPath hg38 (UCSC)PCMTD1  -     chr8:51817583-51899036 -  8q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCMTD1  -     8q11.23   [Description]    (hg19-Feb_2009)
GoldenPathPCMTD1 - 8q11.23 [CytoView hg19]  PCMTD1 - 8q11.23 [CytoView hg38]
ImmunoBaseENSG00000168300
Genome Data Viewer NCBIPCMTD1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AA521309 AF293366 AK056952 AK304196 AK304332
RefSeq transcript (Entrez)NM_001286782 NM_001286783 NM_001363193 NM_052937
Consensus coding sequences : CCDS (NCBI)PCMTD1
Gene ExpressionPCMTD1 [ NCBI-GEO ]   PCMTD1 [ EBI - ARRAY_EXPRESS ]   PCMTD1 [ SEEK ]   PCMTD1 [ MEM ]
Gene Expression Viewer (FireBrowse)PCMTD1 [ Firebrowse - Broad ]
GenevisibleExpression of PCMTD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)115294
GTEX Portal (Tissue expression)PCMTD1
Human Protein AtlasENSG00000168300-PCMTD1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ96MG8
Domains : Interpro (EBI)PCMT    SAM-dependent_MTases   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)PCMTD1
SuperfamilyQ96MG8
AlphaFold pdb e-kbQ96MG8   
Human Protein Atlas [tissue]ENSG00000168300-PCMTD1 [tissue]
HPRD08313
Protein Interaction databases
DIP (DOE-UCLA)Q96MG8
IntAct (EBI)Q96MG8
BioGRIDPCMTD1
STRING (EMBL)PCMTD1
ZODIACPCMTD1
Ontologies - Pathways
QuickGOQ96MG8
Ontology : AmiGOprotein-L-isoaspartate (D-aspartate) O-methyltransferase activity  protein binding  cytoplasm  protein methylation  membrane  
Ontology : EGO-EBIprotein-L-isoaspartate (D-aspartate) O-methyltransferase activity  protein binding  cytoplasm  protein methylation  membrane  
NDEx NetworkPCMTD1
Atlas of Cancer Signalling NetworkPCMTD1
Wikipedia pathwaysPCMTD1
Orthology - Evolution
OrthoDB115294
GeneTree (enSembl)ENSG00000168300
Phylogenetic Trees/Animal Genes : TreeFamPCMTD1
Homologs : HomoloGenePCMTD1
Homology/Alignments : Family Browser (UCSC)PCMTD1
Gene fusions - Rearrangements
Fusion : QuiverPCMTD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCMTD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCMTD1
dbVarPCMTD1
ClinVarPCMTD1
MonarchPCMTD1
1000_GenomesPCMTD1 
Exome Variant ServerPCMTD1
GNOMAD BrowserENSG00000168300
Varsome BrowserPCMTD1
ACMGPCMTD1 variants
VarityQ96MG8
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]  
Somatic Mutations in Cancer : COSMIC3DPCMTD1
Mutations and Diseases : HGMDPCMTD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPCMTD1
DgiDB (Drug Gene Interaction Database)PCMTD1
DoCM (Curated mutations)PCMTD1
CIViC (Clinical Interpretations of Variants in Cancer)PCMTD1
Cancer3DPCMTD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETPCMTD1
MedgenPCMTD1
Genetic Testing Registry PCMTD1
NextProtQ96MG8 [Medical]
GENETestsPCMTD1
Target ValidationPCMTD1
Huge Navigator PCMTD1 [HugePedia]
ClinGenPCMTD1
Clinical trials, drugs, therapy
MyCancerGenomePCMTD1
Protein Interactions : CTDPCMTD1
Pharm GKB GenePA142671194
PharosQ96MG8
Clinical trialPCMTD1
Miscellaneous
canSAR (ICR)PCMTD1
HarmonizomePCMTD1
DataMed IndexPCMTD1
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPCMTD1
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 : Mon Oct 4 16:15:43 CEST 2021

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