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PCM1 (pericentriolar material 1)

Identity

Alias_symbol (synonym)PTC4
Other aliasRET/PCM-1
HGNC (Hugo) PCM1
LocusID (NCBI) 5108
Atlas_Id 41668
Location 8p22  [Link to chromosome band 8p22]
Location_base_pair Starts at 17922857 and ends at 18029948 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ASAH1 (8p22) / PCM1 (8p22)CCDC14 (3q21.1) / PCM1 (8p22)CREB3L2 (7q33) / PCM1 (8p22)
ERICH1 (8p23.3) / PCM1 (8p22)JAK2 (9p24.1) / PCM1 (8p22)PCM1 (8p22) / FGL1 (8p22)
PCM1 (8p22) / JAK2 (9p24.1)PCM1 (8p22) / NRG1 (8p12)PCM1 (8p22) / PCM1 (8p22)
PCM1 (8p22) / RET (10q11.21)PODXL2 (3q21.3) / PCM1 (8p22)RET (10q11.21) / PCM1 (8p22)
JAK2 9p24.1 / PCM1 8p22PCM1 8p22 / JAK2 9p24.1PCM1 8p22 / RET 10q11.21
ERICH1 8p23.3 / PCM1 8p22PCM1 8p22 / NRG1 8p12

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

 

Breakpoints

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(5;9)(q14.1;p24) SSBP2/JAK2
t(5;14)(q33;q24) NIN/PDGFRB
t(8;9)(p22;p24) PCM1/JAK2
T-lineage acute lymphoblastic leukemia (T-ALL)


External links

Nomenclature
HGNC (Hugo)PCM1   8727
Cards
Entrez_Gene (NCBI)PCM1  5108  pericentriolar material 1
AliasesPTC4; RET/PCM-1
GeneCards (Weizmann)PCM1
Ensembl hg19 (Hinxton)ENSG00000078674 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000078674 [Gene_View]  chr8:17922857-18029948 [Contig_View]  PCM1 [Vega]
ICGC DataPortalENSG00000078674
TCGA cBioPortalPCM1
AceView (NCBI)PCM1
Genatlas (Paris)PCM1
WikiGenes5108
SOURCE (Princeton)PCM1
Genetics Home Reference (NIH)PCM1
Genomic and cartography
GoldenPath hg38 (UCSC)PCM1  -     chr8:17922857-18029948 +  8p22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCM1  -     8p22   [Description]    (hg19-Feb_2009)
EnsemblPCM1 - 8p22 [CytoView hg19]  PCM1 - 8p22 [CytoView hg38]
Mapping of homologs : NCBIPCM1 [Mapview hg19]  PCM1 [Mapview hg38]
OMIM188550   600299   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001315507 NM_001315508 NM_006197
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCM1
Cluster EST : UnigeneHs.491148 [ NCBI ]
CGAP (NCI)Hs.491148
Alternative Splicing GalleryENSG00000078674
Gene ExpressionPCM1 [ NCBI-GEO ]   PCM1 [ EBI - ARRAY_EXPRESS ]   PCM1 [ SEEK ]   PCM1 [ MEM ]
Gene Expression Viewer (FireBrowse)PCM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5108
GTEX Portal (Tissue expression)PCM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15154   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15154  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15154
Splice isoforms : SwissVarQ15154
PhosPhoSitePlusQ15154
Domains : Interpro (EBI)PCM1_C    Pericentriolar_Pcm1   
Domain families : Pfam (Sanger)PCM1_C (PF15717)   
Domain families : Pfam (NCBI)pfam15717   
Conserved Domain (NCBI)PCM1
DMDM Disease mutations5108
Blocks (Seattle)PCM1
SuperfamilyQ15154
Human Protein AtlasENSG00000078674
Peptide AtlasQ15154
HPRD02624
IPIIPI00006213   IPI00795923   IPI00953308   IPI00872566   IPI01012680   IPI00001654   IPI00982951   IPI00980953   IPI00981738   
Protein Interaction databases
DIP (DOE-UCLA)Q15154
IntAct (EBI)Q15154
FunCoupENSG00000078674
BioGRIDPCM1
STRING (EMBL)PCM1
ZODIACPCM1
Ontologies - Pathways
QuickGOQ15154
Ontology : AmiGOG2/M transition of mitotic cell cycle  pericentriolar material  neuron migration  protein binding  cytoplasm  centrosome  centrosome  centrosome  centriole  cytosol  cytosol  centrosome cycle  membrane  interkinetic nuclear migration  cytoplasmic microtubule organization  nuclear membrane  centriolar satellite  microtubule anchoring  microtubule anchoring at centrosome  social behavior  intraciliary transport involved in cilium assembly  ciliary transition zone  ciliary basal body  identical protein binding  protein complex  apical part of cell  negative regulation of neurogenesis  cilium assembly  protein localization to centrosome  protein localization to centrosome  positive regulation of intracellular protein transport  neuronal stem cell population maintenance  ciliary basal body docking  non-motile cilium  non-motile cilium assembly  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  pericentriolar material  neuron migration  protein binding  cytoplasm  centrosome  centrosome  centrosome  centriole  cytosol  cytosol  centrosome cycle  membrane  interkinetic nuclear migration  cytoplasmic microtubule organization  nuclear membrane  centriolar satellite  microtubule anchoring  microtubule anchoring at centrosome  social behavior  intraciliary transport involved in cilium assembly  ciliary transition zone  ciliary basal body  identical protein binding  protein complex  apical part of cell  negative regulation of neurogenesis  cilium assembly  protein localization to centrosome  protein localization to centrosome  positive regulation of intracellular protein transport  neuronal stem cell population maintenance  ciliary basal body docking  non-motile cilium  non-motile cilium assembly  
NDEx NetworkPCM1
Atlas of Cancer Signalling NetworkPCM1
Wikipedia pathwaysPCM1
Orthology - Evolution
OrthoDB5108
GeneTree (enSembl)ENSG00000078674
Phylogenetic Trees/Animal Genes : TreeFamPCM1
HOVERGENQ15154
HOGENOMQ15154
Homologs : HomoloGenePCM1
Homology/Alignments : Family Browser (UCSC)PCM1
Gene fusions - Rearrangements
Fusion : MitelmanERICH1/PCM1 [8p23.3/8p22]  [t(8;8)(p22;p23)]  
Fusion : MitelmanPCM1/JAK2 [8p22/9p24.1]  [t(8;9)(p22;p24)]  
Fusion : MitelmanPCM1/RET [8p22/10q11.21]  [t(8;10)(p22;q11)]  
Fusion: TCGAERICH1 8p23.3 PCM1 8p22 BRCA
Fusion: TCGAPCM1 8p22 NRG1 8p12 KIRC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCM1
dbVarPCM1
ClinVarPCM1
1000_GenomesPCM1 
Exome Variant ServerPCM1
ExAC (Exome Aggregation Consortium)PCM1 (select the gene name)
Genetic variants : HAPMAP5108
Genomic Variants (DGV)PCM1 [DGVbeta]
DECIPHERPCM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCM1 
Mutations
ICGC Data PortalPCM1 
TCGA Data PortalPCM1 
Broad Tumor PortalPCM1
OASIS PortalPCM1 [ Somatic mutations - Copy number]
Cancer Gene: CensusPCM1 
Somatic Mutations in Cancer : COSMICPCM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCM1
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 PCM1
DgiDB (Drug Gene Interaction Database)PCM1
DoCM (Curated mutations)PCM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCM1 (select a term)
intoGenPCM1
Cancer3DPCM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM188550    600299   
Orphanet905   
MedgenPCM1
Genetic Testing Registry PCM1
NextProtQ15154 [Medical]
TSGene5108
GENETestsPCM1
Target ValidationPCM1
Huge Navigator PCM1 [HugePedia]
snp3D : Map Gene to Disease5108
BioCentury BCIQPCM1
ClinGenPCM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5108
Chemical/Pharm GKB GenePA33073
Clinical trialPCM1
Miscellaneous
canSAR (ICR)PCM1 (select the gene name)
Probes
Litterature
PubMed97 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCM1
EVEXPCM1
GoPubMedPCM1
iHOPPCM1
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 : Wed Jun 7 12:48:47 CEST 2017

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