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PIGN (phosphatidylinositol glycan anchor biosynthesis class N)

Identity

Alias_namesphosphatidylinositol glycan
Alias_symbol (synonym)MDC4
PIG-N
Other aliasMCAHS
MCAHS1
MCD4
HGNC (Hugo) PIGN
LocusID (NCBI) 23556
Atlas_Id 46809
Location 18q21.33  [Link to chromosome band 18q21]
Location_base_pair Starts at 62044225 and ends at 62187056 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)
PIGN (18q21.33) / AAK1 (2p13.3)PIGN (18q21.33) / CTNNA2 (2p12)PIGN (18q21.33) / NUCKS1 (1q32.1)
RNF152 (18q21.33) / PIGN (18q21.33)PIGN 18q21.33 / CTNNA2 2p12RNF152 18q21.33 / PIGN 18q21.33

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) [ 2 ]
  t(2;18)(p12;q21) PIGN/CTNNA2
RNF152/PIGN (18q21)

External links

Nomenclature
HGNC (Hugo)PIGN   8967
Cards
Entrez_Gene (NCBI)PIGN  23556  phosphatidylinositol glycan anchor biosynthesis class N
AliasesMCAHS; MCAHS1; MCD4; MDC4; 
PIG-N
GeneCards (Weizmann)PIGN
Ensembl hg19 (Hinxton)ENSG00000197563 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197563 [Gene_View]  ENSG00000197563 [Sequence]  chr18:62044225-62187056 [Contig_View]  PIGN [Vega]
ICGC DataPortalENSG00000197563
TCGA cBioPortalPIGN
AceView (NCBI)PIGN
Genatlas (Paris)PIGN
WikiGenes23556
SOURCE (Princeton)PIGN
Genetics Home Reference (NIH)PIGN
Genomic and cartography
GoldenPath hg38 (UCSC)PIGN  -     chr18:62044225-62187056 -  18q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PIGN  -     18q21.33   [Description]    (hg19-Feb_2009)
EnsemblPIGN - 18q21.33 [CytoView hg19]  PIGN - 18q21.33 [CytoView hg38]
Mapping of homologs : NCBIPIGN [Mapview hg19]  PIGN [Mapview hg38]
OMIM606097   614080   
Gene and transcription
Genbank (Entrez)AF109219 AK000730 AK315134 AL137607 BC028363
RefSeq transcript (Entrez)NM_012327 NM_176787
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PIGN
Cluster EST : UnigeneHs.157031 [ NCBI ]
CGAP (NCI)Hs.157031
Alternative Splicing GalleryENSG00000197563
Gene ExpressionPIGN [ NCBI-GEO ]   PIGN [ EBI - ARRAY_EXPRESS ]   PIGN [ SEEK ]   PIGN [ MEM ]
Gene Expression Viewer (FireBrowse)PIGN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23556
GTEX Portal (Tissue expression)PIGN
Human Protein AtlasENSG00000197563-PIGN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95427   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95427  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95427
Splice isoforms : SwissVarO95427
Catalytic activity : Enzyme2.-.-.- [ Enzyme-Expasy ]   2.-.-.-2.-.-.- [ IntEnz-EBI ]   2.-.-.- [ BRENDA ]   2.-.-.- [ KEGG ]   
PhosPhoSitePlusO95427
Domains : Interpro (EBI)Alkaline_Pase-like_a/b/a    Alkaline_phosphatase_core_sf    GPI_EtnP_transferase_1    GPI_EtnP_transferase_1_C    Phosphodiest/P_Trfase    PIGN_N   
Domain families : Pfam (Sanger)Phosphodiest (PF01663)    PigN (PF04987)   
Domain families : Pfam (NCBI)pfam01663    pfam04987   
Conserved Domain (NCBI)PIGN
DMDM Disease mutations23556
Blocks (Seattle)PIGN
SuperfamilyO95427
Human Protein Atlas [tissue]ENSG00000197563-PIGN [tissue]
Peptide AtlasO95427
HPRD12085
IPIIPI00017598   
Protein Interaction databases
DIP (DOE-UCLA)O95427
IntAct (EBI)O95427
FunCoupENSG00000197563
BioGRIDPIGN
STRING (EMBL)PIGN
ZODIACPIGN
Ontologies - Pathways
QuickGOO95427
Ontology : AmiGOendoplasmic reticulum membrane  endoplasmic reticulum membrane  cytosol  plasma membrane  GPI anchor biosynthetic process  membrane  integral component of membrane  preassembly of GPI anchor in ER membrane  mannose-ethanolamine phosphotransferase activity  mannose-ethanolamine phosphotransferase activity  
Ontology : EGO-EBIendoplasmic reticulum membrane  endoplasmic reticulum membrane  cytosol  plasma membrane  GPI anchor biosynthetic process  membrane  integral component of membrane  preassembly of GPI anchor in ER membrane  mannose-ethanolamine phosphotransferase activity  mannose-ethanolamine phosphotransferase activity  
Pathways : KEGGGlycosylphosphatidylinositol(GPI)-anchor biosynthesis   
NDEx NetworkPIGN
Atlas of Cancer Signalling NetworkPIGN
Wikipedia pathwaysPIGN
Orthology - Evolution
OrthoDB23556
GeneTree (enSembl)ENSG00000197563
Phylogenetic Trees/Animal Genes : TreeFamPIGN
HOGENOMO95427
Homologs : HomoloGenePIGN
Homology/Alignments : Family Browser (UCSC)PIGN
Gene fusions - Rearrangements
Fusion : MitelmanPIGN/CTNNA2 [18q21.33/2p12]  
Fusion : MitelmanRNF152/PIGN [18q21.33/18q21.33]  [t(18;18)(q21;q21)]  
Fusion PortalPIGN 18q21.33 CTNNA2 2p12 BRCA
Fusion PortalRNF152 18q21.33 PIGN 18q21.33 HNSC
Fusion : QuiverPIGN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIGN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIGN
dbVarPIGN
ClinVarPIGN
1000_GenomesPIGN 
Exome Variant ServerPIGN
ExAC (Exome Aggregation Consortium)ENSG00000197563
GNOMAD BrowserENSG00000197563
Varsome BrowserPIGN
Genetic variants : HAPMAP23556
Genomic Variants (DGV)PIGN [DGVbeta]
DECIPHERPIGN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPIGN 
Mutations
ICGC Data PortalPIGN 
TCGA Data PortalPIGN 
Broad Tumor PortalPIGN
OASIS PortalPIGN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPIGN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPIGN
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 PIGN
DgiDB (Drug Gene Interaction Database)PIGN
DoCM (Curated mutations)PIGN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PIGN (select a term)
intoGenPIGN
Cancer3DPIGN(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606097    614080   
Orphanet1979    20486   
DisGeNETPIGN
MedgenPIGN
Genetic Testing Registry PIGN
NextProtO95427 [Medical]
TSGene23556
GENETestsPIGN
Target ValidationPIGN
Huge Navigator PIGN [HugePedia]
snp3D : Map Gene to Disease23556
BioCentury BCIQPIGN
ClinGenPIGN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23556
Chemical/Pharm GKB GenePA33298
Clinical trialPIGN
Miscellaneous
canSAR (ICR)PIGN (select the gene name)
DataMed IndexPIGN
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePIGN
EVEXPIGN
GoPubMedPIGN
iHOPPIGN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Feb 14 16:49:42 CET 2019
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