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PNPLA7 (patatin-like phospholipase domain containing 7)

Identity

Alias_namesC9orf111
chromosome 9 open reading frame 111
patatin-like phospholipase domain containing 7
Alias_symbol (synonym)FLJ43070
FLJ31318
FLJ44279
RP11-48C7.2
NTEL1
NTE-R1
Other alias
HGNC (Hugo) PNPLA7
LocusID (NCBI) 375775
Atlas_Id 72033
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 140354404 and ends at 140445021 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EXD3 (9q34.3) / PNPLA7 (9q34.3)NSMF (9q34.3) / PNPLA7 (9q34.3)PNPLA7 (9q34.3) / APOE (19q13.32)
PNPLA7 (9q34.3) / DPH7 (9q34.3)

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

 


External links

Nomenclature
HGNC (Hugo)PNPLA7   24768
Cards
Entrez_Gene (NCBI)PNPLA7  375775  patatin-like phospholipase domain containing 7
AliasesC9orf111; NTE-R1; NTEL1
GeneCards (Weizmann)PNPLA7
Ensembl hg19 (Hinxton)ENSG00000130653 [Gene_View]  chr9:140354404-140445021 [Contig_View]  PNPLA7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130653 [Gene_View]  chr9:140354404-140445021 [Contig_View]  PNPLA7 [Vega]
ICGC DataPortalENSG00000130653
TCGA cBioPortalPNPLA7
AceView (NCBI)PNPLA7
Genatlas (Paris)PNPLA7
WikiGenes375775
SOURCE (Princeton)PNPLA7
Genetics Home Reference (NIH)PNPLA7
Genomic and cartography
GoldenPath hg19 (UCSC)PNPLA7  -     chr9:140354404-140445021 -  9q34.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PNPLA7  -     9q34.3   [Description]    (hg38-Dec_2013)
EnsemblPNPLA7 - 9q34.3 [CytoView hg19]  PNPLA7 - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBIPNPLA7 [Mapview hg19]  PNPLA7 [Mapview hg38]
OMIM612122   
Gene and transcription
Genbank (Entrez)AK024443 AK055880 AK122590 AK125060 AK126267
RefSeq transcript (Entrez)NM_001098537 NM_152286
RefSeq genomic (Entrez)NC_000009 NC_018920 NT_008470 NW_004929369
Consensus coding sequences : CCDS (NCBI)PNPLA7
Cluster EST : UnigeneHs.294147 [ NCBI ]
CGAP (NCI)Hs.294147
Alternative Splicing GalleryENSG00000130653
Gene ExpressionPNPLA7 [ NCBI-GEO ]   PNPLA7 [ EBI - ARRAY_EXPRESS ]   PNPLA7 [ SEEK ]   PNPLA7 [ MEM ]
Gene Expression Viewer (FireBrowse)PNPLA7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)375775
GTEX Portal (Tissue expression)PNPLA7
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZV29   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZV29  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZV29
Splice isoforms : SwissVarQ6ZV29
PhosPhoSitePlusQ6ZV29
Domaine pattern : Prosite (Expaxy)CNMP_BINDING_3 (PS50042)   
Domains : Interpro (EBI)Acyl_Trfase/lysoPLipase    cNMP-bd-like    cNMP-bd_dom    Patatin/PLipase_A2-rel    RmlC-like_jellyroll   
Domain families : Pfam (Sanger)cNMP_binding (PF00027)    Patatin (PF01734)   
Domain families : Pfam (NCBI)pfam00027    pfam01734   
Domain families : Smart (EMBL)cNMP (SM00100)  
Conserved Domain (NCBI)PNPLA7
DMDM Disease mutations375775
Blocks (Seattle)PNPLA7
SuperfamilyQ6ZV29
Human Protein AtlasENSG00000130653
Peptide AtlasQ6ZV29
HPRD12933
IPIIPI00796247   IPI00445250   IPI00470404   IPI00852921   IPI00394981   IPI00642365   IPI00977582   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZV29
IntAct (EBI)Q6ZV29
FunCoupENSG00000130653
BioGRIDPNPLA7
STRING (EMBL)PNPLA7
ZODIACPNPLA7
Ontologies - Pathways
QuickGOQ6ZV29
Ontology : AmiGOlysophospholipase activity  lysosomal membrane  endoplasmic reticulum  lipid metabolic process  integral component of membrane  nuclear membrane  mitochondrial membrane  developmental process  
Ontology : EGO-EBIlysophospholipase activity  lysosomal membrane  endoplasmic reticulum  lipid metabolic process  integral component of membrane  nuclear membrane  mitochondrial membrane  developmental process  
Pathways : KEGGGlycerophospholipid metabolism   
NDEx NetworkPNPLA7
Atlas of Cancer Signalling NetworkPNPLA7
Wikipedia pathwaysPNPLA7
Orthology - Evolution
OrthoDB375775
GeneTree (enSembl)ENSG00000130653
Phylogenetic Trees/Animal Genes : TreeFamPNPLA7
HOVERGENQ6ZV29
HOGENOMQ6ZV29
Homologs : HomoloGenePNPLA7
Homology/Alignments : Family Browser (UCSC)PNPLA7
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPNPLA7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNPLA7
dbVarPNPLA7
ClinVarPNPLA7
1000_GenomesPNPLA7 
Exome Variant ServerPNPLA7
ExAC (Exome Aggregation Consortium)PNPLA7 (select the gene name)
Genetic variants : HAPMAP375775
Genomic Variants (DGV)PNPLA7 [DGVbeta]
DECIPHER (Syndromes)9:140354404-140445021  ENSG00000130653
CONAN: Copy Number AnalysisPNPLA7 
Mutations
ICGC Data PortalPNPLA7 
TCGA Data PortalPNPLA7 
Broad Tumor PortalPNPLA7
OASIS PortalPNPLA7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNPLA7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPNPLA7
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 PNPLA7
DgiDB (Drug Gene Interaction Database)PNPLA7
DoCM (Curated mutations)PNPLA7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNPLA7 (select a term)
intoGenPNPLA7
Cancer3DPNPLA7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612122   
Orphanet
MedgenPNPLA7
Genetic Testing Registry PNPLA7
NextProtQ6ZV29 [Medical]
TSGene375775
GENETestsPNPLA7
Huge Navigator PNPLA7 [HugePedia]
snp3D : Map Gene to Disease375775
BioCentury BCIQPNPLA7
ClinGenPNPLA7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD375775
Chemical/Pharm GKB GenePA134935962
Clinical trialPNPLA7
Miscellaneous
canSAR (ICR)PNPLA7 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNPLA7
EVEXPNPLA7
GoPubMedPNPLA7
iHOPPNPLA7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:39:04 CET 2017

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