Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PIGU (phosphatidylinositol glycan anchor biosynthesis class U)

Identity

Alias (NCBI)CDC91L1
GAB1
GPIBD21
NEDBSS
HGNC (Hugo) PIGU
HGNC Alias symbbA346K17.2
GAB1
HGNC Alias nameGPI transamidase subunit
HGNC Previous nameCDC91L1
HGNC Previous nameCDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1
 CDC91 cell division cycle 91-like 1 (S. cerevisiae)
LocusID (NCBI) 128869
Atlas_Id 45608
Location 20q11.22  [Link to chromosome band 20q11]
Location_base_pair Starts at 34560542 and ends at 34677285 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)
ALG5 (13q13.3) / PIGU (20q11.22)CHMP4B (20q11.22) / PIGU (20q11.22)ITCH (20q11.22) / PIGU (20q11.22)
PIGU (20q11.22) / ALG5 (13q13.3)PIGU (20q11.22) / BCAS3 (17q23.2)PIGU (20q11.22) / MAP1LC3A (20q11.22)
PIGU (20q11.22) / NCOA6 (20q11.22)PIGU (20q11.22) / PIGU (20q11.22)PIGU (20q11.22) / PITPNC1 (17q24.2)
PIGU (20q11.22) / PTPRT (20q12)PIGU (20q11.22) / YARS (1p35.1)SLC4A4 (4q13.3) / PIGU (20q11.22)
ITCH 20q11.22 / PIGU 20q11.22PIGU 20q11.22 / BCAS3 17q23.2PIGU 20q11.22 / MAP1LC3A 20q11.22
PIGU 20q11.22 / PITPNC1 17q24.2PIGU 20q11.22 / PTPRT 20q12

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) [ 8 ]
  t(13;20)(q13;q11) ALG5/PIGU
t(13;20)(q13;q11) PIGU/ALG5
t(17;20)(q23;q11) PIGU/BCAS3
t(17;20)(q24;q11) PIGU/PITPNC1
ITCH/PIGU (20q11)
PIGU/MAP1LC3A (20q11)
PIGU/NCOA6 (20q11)
t(20;20)(q11;q13) PIGU/PTPRT

External links

Nomenclature
HGNC (Hugo)PIGU   15791
Cards
Entrez_Gene (NCBI)PIGU  128869  phosphatidylinositol glycan anchor biosynthesis class U
AliasesCDC91L1; GAB1; GPIBD21; NEDBSS
GeneCards (Weizmann)PIGU
Ensembl hg19 (Hinxton)ENSG00000101464 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101464 [Gene_View]  ENSG00000101464 [Sequence]  chr20:34560542-34677285 [Contig_View]  PIGU [Vega]
ICGC DataPortalENSG00000101464
TCGA cBioPortalPIGU
AceView (NCBI)PIGU
Genatlas (Paris)PIGU
WikiGenes128869
SOURCE (Princeton)PIGU
Genetics Home Reference (NIH)PIGU
Genomic and cartography
GoldenPath hg38 (UCSC)PIGU  -     chr20:34560542-34677285 -  20q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PIGU  -     20q11.22   [Description]    (hg19-Feb_2009)
GoldenPathPIGU - 20q11.22 [CytoView hg19]  PIGU - 20q11.22 [CytoView hg38]
ImmunoBaseENSG00000101464
genome Data Viewer NCBIPIGU [Mapview hg19]  
OMIM608528   618590   
Gene and transcription
Genbank (Entrez)AB086842 AK075507 AK095044 AK095356 AK301900
RefSeq transcript (Entrez)NM_080476
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PIGU
Alternative Splicing GalleryENSG00000101464
Gene ExpressionPIGU [ NCBI-GEO ]   PIGU [ EBI - ARRAY_EXPRESS ]   PIGU [ SEEK ]   PIGU [ MEM ]
Gene Expression Viewer (FireBrowse)PIGU [ Firebrowse - Broad ]
GenevisibleExpression of PIGU in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)128869
GTEX Portal (Tissue expression)PIGU
Human Protein AtlasENSG00000101464-PIGU [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H490   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H490  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H490
Splice isoforms : SwissVarQ9H490
PhosPhoSitePlusQ9H490
Domains : Interpro (EBI)PIG-U   
Domain families : Pfam (Sanger)PIG-U (PF06728)   
Domain families : Pfam (NCBI)pfam06728   
Conserved Domain (NCBI)PIGU
DMDM Disease mutations128869
Blocks (Seattle)PIGU
SuperfamilyQ9H490
Human Protein Atlas [tissue]ENSG00000101464-PIGU [tissue]
Peptide AtlasQ9H490
HPRD12250
IPIIPI00026044   IPI00402109   IPI00909012   IPI00552398   
Protein Interaction databases
DIP (DOE-UCLA)Q9H490
IntAct (EBI)Q9H490
FunCoupENSG00000101464
BioGRIDPIGU
STRING (EMBL)PIGU
ZODIACPIGU
Ontologies - Pathways
QuickGOQ9H490
Ontology : AmiGOGPI-anchor transamidase activity  GPI-anchor transamidase activity  endoplasmic reticulum membrane  plasma membrane  GPI anchor biosynthetic process  membrane  attachment of GPI anchor to protein  attachment of GPI anchor to protein  attachment of GPI anchor to protein  integral component of endoplasmic reticulum membrane  GPI anchor binding  protein localization to cell surface  GPI-anchor transamidase complex  GPI-anchor transamidase complex  regulation of JAK-STAT cascade  
Ontology : EGO-EBIGPI-anchor transamidase activity  GPI-anchor transamidase activity  endoplasmic reticulum membrane  plasma membrane  GPI anchor biosynthetic process  membrane  attachment of GPI anchor to protein  attachment of GPI anchor to protein  attachment of GPI anchor to protein  integral component of endoplasmic reticulum membrane  GPI anchor binding  protein localization to cell surface  GPI-anchor transamidase complex  GPI-anchor transamidase complex  regulation of JAK-STAT cascade  
Pathways : KEGGGlycosylphosphatidylinositol(GPI)-anchor biosynthesis   
NDEx NetworkPIGU
Atlas of Cancer Signalling NetworkPIGU
Wikipedia pathwaysPIGU
Orthology - Evolution
OrthoDB128869
GeneTree (enSembl)ENSG00000101464
Phylogenetic Trees/Animal Genes : TreeFamPIGU
HOGENOMQ9H490
Homologs : HomoloGenePIGU
Homology/Alignments : Family Browser (UCSC)PIGU
Gene fusions - Rearrangements
Fusion : MitelmanALG5/PIGU [13q13.3/20q11.22]  
Fusion : MitelmanITCH/PIGU [20q11.22/20q11.22]  
Fusion : MitelmanPIGU/ALG5 [20q11.22/13q13.3]  
Fusion : MitelmanPIGU/BCAS3 [20q11.22/17q23.2]  
Fusion : MitelmanPIGU/MAP1LC3A [20q11.22/20q11.22]  
Fusion : MitelmanPIGU/NCOA6 [20q11.22/20q11.22]  
Fusion : MitelmanPIGU/PITPNC1 [20q11.22/17q24.2]  
Fusion : MitelmanPIGU/PTPRT [20q11.22/20q12]  
Fusion PortalITCH 20q11.22 PIGU 20q11.22 PRAD
Fusion PortalPIGU 20q11.22 BCAS3 17q23.2 BRCA
Fusion PortalPIGU 20q11.22 MAP1LC3A 20q11.22 PRAD
Fusion PortalPIGU 20q11.22 PITPNC1 17q24.2 BRCA
Fusion PortalPIGU 20q11.22 PTPRT 20q12 BRCA
Fusion : QuiverPIGU
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIGU [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIGU
dbVarPIGU
ClinVarPIGU
1000_GenomesPIGU 
Exome Variant ServerPIGU
GNOMAD BrowserENSG00000101464
Varsome BrowserPIGU
Genetic variants : HAPMAP128869
Genomic Variants (DGV)PIGU [DGVbeta]
DECIPHERPIGU [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPIGU 
Mutations
ICGC Data PortalPIGU 
TCGA Data PortalPIGU 
Broad Tumor PortalPIGU
OASIS PortalPIGU [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDPIGU
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 PIGU
DgiDB (Drug Gene Interaction Database)PIGU
DoCM (Curated mutations)PIGU (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PIGU (select a term)
intoGenPIGU
Cancer3DPIGU(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608528    618590   
Orphanet
DisGeNETPIGU
MedgenPIGU
Genetic Testing Registry PIGU
NextProtQ9H490 [Medical]
TSGene128869
GENETestsPIGU
Target ValidationPIGU
Huge Navigator PIGU [HugePedia]
snp3D : Map Gene to Disease128869
BioCentury BCIQPIGU
ClinGenPIGU
Clinical trials, drugs, therapy
Protein Interactions : CTD128869
Pharm GKB GenePA162399506
Clinical trialPIGU
Miscellaneous
canSAR (ICR)PIGU (select the gene name)
HarmonizomePIGU
DataMed IndexPIGU
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePIGU
EVEXPIGU
GoPubMedPIGU
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 : Thu Jul 16 15:29:49 CEST 2020
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