Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PNPLA1 (patatin like phospholipase domain containing 1)

Identity

Alias_namespatatin-like phospholipase domain containing 1
Alias_symbol (synonym)FLJ38755
dJ50J22.1
Other aliasARCI10
HGNC (Hugo) PNPLA1
LocusID (NCBI) 285848
Atlas_Id 54547
Location 6p21.31  [Link to chromosome band 6p21]
Location_base_pair Starts at 36243168 and ends at 36308595 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)
ITPR3 (6p21.31) / PNPLA1 (6p21.31)PNPLA1 (6p21.31) / GLIS1 (1p32.3)PNPLA1 (6p21.31) / KCTD10 (12q24.11)
PNPLA1 (6p21.31) / MTOR (1p36.22)

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) [ 1 ]
  del(6)(p21p21) ITPR3/PNPLA1


External links

Nomenclature
HGNC (Hugo)PNPLA1   21246
Cards
Entrez_Gene (NCBI)PNPLA1  285848  patatin like phospholipase domain containing 1
AliasesARCI10; dJ50J22.1
GeneCards (Weizmann)PNPLA1
Ensembl hg19 (Hinxton)ENSG00000180316 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180316 [Gene_View]  ENSG00000180316 [Sequence]  chr6:36243168-36308595 [Contig_View]  PNPLA1 [Vega]
ICGC DataPortalENSG00000180316
TCGA cBioPortalPNPLA1
AceView (NCBI)PNPLA1
Genatlas (Paris)PNPLA1
WikiGenes285848
SOURCE (Princeton)PNPLA1
Genetics Home Reference (NIH)PNPLA1
Genomic and cartography
GoldenPath hg38 (UCSC)PNPLA1  -     chr6:36243168-36308595 +  6p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PNPLA1  -     6p21.31   [Description]    (hg19-Feb_2009)
EnsemblPNPLA1 - 6p21.31 [CytoView hg19]  PNPLA1 - 6p21.31 [CytoView hg38]
Mapping of homologs : NCBIPNPLA1 [Mapview hg19]  PNPLA1 [Mapview hg38]
OMIM612121   615024   
Gene and transcription
Genbank (Entrez)AK096074 AM182887 BC103905 BC103906 BC103907
RefSeq transcript (Entrez)NM_001039725 NM_001145716 NM_001145717 NM_173676
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PNPLA1
Cluster EST : UnigeneHs.407002 [ NCBI ]
CGAP (NCI)Hs.407002
Alternative Splicing GalleryENSG00000180316
Gene ExpressionPNPLA1 [ NCBI-GEO ]   PNPLA1 [ EBI - ARRAY_EXPRESS ]   PNPLA1 [ SEEK ]   PNPLA1 [ MEM ]
Gene Expression Viewer (FireBrowse)PNPLA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)285848
GTEX Portal (Tissue expression)PNPLA1
Human Protein AtlasENSG00000180316-PNPLA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N8W4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N8W4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N8W4
Splice isoforms : SwissVarQ8N8W4
PhosPhoSitePlusQ8N8W4
Domaine pattern : Prosite (Expaxy)PNPLA (PS51635)   
Domains : Interpro (EBI)Acyl_Trfase/lysoPLipase    PLPL    PNPLA_dom   
Domain families : Pfam (Sanger)Patatin (PF01734)   
Domain families : Pfam (NCBI)pfam01734   
Conserved Domain (NCBI)PNPLA1
DMDM Disease mutations285848
Blocks (Seattle)PNPLA1
SuperfamilyQ8N8W4
Human Protein Atlas [tissue]ENSG00000180316-PNPLA1 [tissue]
Peptide AtlasQ8N8W4
HPRD17869
IPIIPI00848006   IPI00167613   IPI00792936   IPI00738345   
Protein Interaction databases
DIP (DOE-UCLA)Q8N8W4
IntAct (EBI)Q8N8W4
FunCoupENSG00000180316
BioGRIDPNPLA1
STRING (EMBL)PNPLA1
ZODIACPNPLA1
Ontologies - Pathways
QuickGOQ8N8W4
Ontology : AmiGOtriglyceride lipase activity  cytoplasm  cytoplasm  lipid droplet  membrane  triglyceride catabolic process  lipid homeostasis  
Ontology : EGO-EBItriglyceride lipase activity  cytoplasm  cytoplasm  lipid droplet  membrane  triglyceride catabolic process  lipid homeostasis  
NDEx NetworkPNPLA1
Atlas of Cancer Signalling NetworkPNPLA1
Wikipedia pathwaysPNPLA1
Orthology - Evolution
OrthoDB285848
GeneTree (enSembl)ENSG00000180316
Phylogenetic Trees/Animal Genes : TreeFamPNPLA1
HOVERGENQ8N8W4
HOGENOMQ8N8W4
Homologs : HomoloGenePNPLA1
Homology/Alignments : Family Browser (UCSC)PNPLA1
Gene fusions - Rearrangements
Fusion : MitelmanITPR3/PNPLA1 [6p21.31/6p21.31]  [del(6)(p21)]  [del(6)(p21p21)]  
Fusion : QuiverPNPLA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPNPLA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNPLA1
dbVarPNPLA1
ClinVarPNPLA1
1000_GenomesPNPLA1 
Exome Variant ServerPNPLA1
ExAC (Exome Aggregation Consortium)ENSG00000180316
GNOMAD BrowserENSG00000180316
Varsome BrowserPNPLA1
Genetic variants : HAPMAP285848
Genomic Variants (DGV)PNPLA1 [DGVbeta]
DECIPHERPNPLA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPNPLA1 
Mutations
ICGC Data PortalPNPLA1 
TCGA Data PortalPNPLA1 
Broad Tumor PortalPNPLA1
OASIS PortalPNPLA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNPLA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPNPLA1
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 PNPLA1
DgiDB (Drug Gene Interaction Database)PNPLA1
DoCM (Curated mutations)PNPLA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNPLA1 (select a term)
intoGenPNPLA1
Cancer3DPNPLA1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612121    615024   
Orphanet11420   
DisGeNETPNPLA1
MedgenPNPLA1
Genetic Testing Registry PNPLA1
NextProtQ8N8W4 [Medical]
TSGene285848
GENETestsPNPLA1
Target ValidationPNPLA1
Huge Navigator PNPLA1 [HugePedia]
snp3D : Map Gene to Disease285848
BioCentury BCIQPNPLA1
ClinGenPNPLA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD285848
Chemical/Pharm GKB GenePA134887192
Clinical trialPNPLA1
Miscellaneous
canSAR (ICR)PNPLA1 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNPLA1
EVEXPNPLA1
GoPubMedPNPLA1
iHOPPNPLA1
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 : Tue Nov 6 11:30:59 CET 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.