Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NLRP7 (NLR family pyrin domain containing 7)

Identity

Alias_namesNALP7
NACHT, leucine rich repeat and PYD containing 7
Alias_symbol (synonym)PYPAF3
NOD12
PAN7
CLR19.4
Other aliasHYDM
HGNC (Hugo) NLRP7
LocusID (NCBI) 199713
Atlas_Id 50371
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 54923509 and ends at 54947505 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)
RNF11 (1p32.3) / NLRP7 (19q13.42)

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)NLRP7   22947
Cards
Entrez_Gene (NCBI)NLRP7  199713  NLR family pyrin domain containing 7
AliasesCLR19.4; HYDM; NALP7; NOD12; 
PAN7; PYPAF3
GeneCards (Weizmann)NLRP7
Ensembl hg19 (Hinxton)ENSG00000167634 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167634 [Gene_View]  ENSG00000167634 [Sequence]  chr19:54923509-54947505 [Contig_View]  NLRP7 [Vega]
ICGC DataPortalENSG00000167634
TCGA cBioPortalNLRP7
AceView (NCBI)NLRP7
Genatlas (Paris)NLRP7
WikiGenes199713
SOURCE (Princeton)NLRP7
Genetics Home Reference (NIH)NLRP7
Genomic and cartography
GoldenPath hg38 (UCSC)NLRP7  -     chr19:54923509-54947505 -  19q13.42   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NLRP7  -     19q13.42   [Description]    (hg19-Feb_2009)
GoldenPathNLRP7 - 19q13.42 [CytoView hg19]  NLRP7 - 19q13.42 [CytoView hg38]
ImmunoBaseENSG00000167634
Mapping of homologs : NCBINLRP7 [Mapview hg19]  NLRP7 [Mapview hg38]
OMIM231090   609661   
Gene and transcription
Genbank (Entrez)AF464765 AK298630 AK302655 AK313964 AY154462
RefSeq transcript (Entrez)NM_001127255 NM_139176 NM_206828
RefSeq genomic (Entrez)NC_000019 NG_008056 NT_187693 NW_003571054 NW_003571055 NW_003571056 NW_003571057 NW_003571058 NW_003571059 NW_003571060 NW_003571061
Consensus coding sequences : CCDS (NCBI)NLRP7
Cluster EST : UnigeneHs.351118 [ NCBI ]
CGAP (NCI)Hs.351118
Alternative Splicing GalleryENSG00000167634
Gene ExpressionNLRP7 [ NCBI-GEO ]   NLRP7 [ EBI - ARRAY_EXPRESS ]   NLRP7 [ SEEK ]   NLRP7 [ MEM ]
Gene Expression Viewer (FireBrowse)NLRP7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)199713
GTEX Portal (Tissue expression)NLRP7
Human Protein AtlasENSG00000167634-NLRP7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WX94   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WX94  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WX94
Splice isoforms : SwissVarQ8WX94
PhosPhoSitePlusQ8WX94
Domaine pattern : Prosite (Expaxy)DAPIN (PS50824)    NACHT (PS50837)   
Domains : Interpro (EBI)DAPIN    DEATH-like_dom_sf    LRR_dom_sf    NACHT_NTPase    P-loop_NTPase   
Domain families : Pfam (Sanger)PYRIN (PF02758)   
Domain families : Pfam (NCBI)pfam02758   
Domain families : Smart (EMBL)PYRIN (SM01289)  
Conserved Domain (NCBI)NLRP7
DMDM Disease mutations199713
Blocks (Seattle)NLRP7
PDB (RSDB)2KM6   
PDB Europe2KM6   
PDB (PDBSum)2KM6   
PDB (IMB)2KM6   
Structural Biology KnowledgeBase2KM6   
SCOP (Structural Classification of Proteins)2KM6   
CATH (Classification of proteins structures)2KM6   
SuperfamilyQ8WX94
Human Protein Atlas [tissue]ENSG00000167634-NLRP7 [tissue]
Peptide AtlasQ8WX94
HPRD10112
IPIIPI00103487   IPI00413716   IPI01008906   IPI00910802   IPI00895841   IPI00894502   IPI01014343   IPI01013058   IPI01013020   
Protein Interaction databases
DIP (DOE-UCLA)Q8WX94
IntAct (EBI)Q8WX94
FunCoupENSG00000167634
BioGRIDNLRP7
STRING (EMBL)NLRP7
ZODIACNLRP7
Ontologies - Pathways
QuickGOQ8WX94
Ontology : AmiGOATP binding  cellular_component  negative regulation of endopeptidase activity  negative regulation of protein processing  aspartic-type endopeptidase inhibitor activity  interleukin-1 binding  negative regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  cellular response to lipopolysaccharide  cellular response to interleukin-1  caspase binding  negative regulation of cytokine production involved in inflammatory response  negative regulation of aspartic-type peptidase activity  
Ontology : EGO-EBIATP binding  cellular_component  negative regulation of endopeptidase activity  negative regulation of protein processing  aspartic-type endopeptidase inhibitor activity  interleukin-1 binding  negative regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  cellular response to lipopolysaccharide  cellular response to interleukin-1  caspase binding  negative regulation of cytokine production involved in inflammatory response  negative regulation of aspartic-type peptidase activity  
NDEx NetworkNLRP7
Atlas of Cancer Signalling NetworkNLRP7
Wikipedia pathwaysNLRP7
Orthology - Evolution
OrthoDB199713
GeneTree (enSembl)ENSG00000167634
Phylogenetic Trees/Animal Genes : TreeFamNLRP7
HOGENOMQ8WX94
Homologs : HomoloGeneNLRP7
Homology/Alignments : Family Browser (UCSC)NLRP7
Gene fusions - Rearrangements
Fusion : QuiverNLRP7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNLRP7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NLRP7
dbVarNLRP7
ClinVarNLRP7
1000_GenomesNLRP7 
Exome Variant ServerNLRP7
ExAC (Exome Aggregation Consortium)ENSG00000167634
GNOMAD BrowserENSG00000167634
Varsome BrowserNLRP7
Genetic variants : HAPMAP199713
Genomic Variants (DGV)NLRP7 [DGVbeta]
DECIPHERNLRP7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNLRP7 
Mutations
ICGC Data PortalNLRP7 
TCGA Data PortalNLRP7 
Broad Tumor PortalNLRP7
OASIS PortalNLRP7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNLRP7  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNLRP7
Mutations and Diseases : HGMDNLRP7
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 NLRP7
DgiDB (Drug Gene Interaction Database)NLRP7
DoCM (Curated mutations)NLRP7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NLRP7 (select a term)
intoGenNLRP7
Cancer3DNLRP7(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM231090    609661   
Orphanet19764    19763   
DisGeNETNLRP7
MedgenNLRP7
Genetic Testing Registry NLRP7
NextProtQ8WX94 [Medical]
TSGene199713
GENETestsNLRP7
Target ValidationNLRP7
Huge Navigator NLRP7 [HugePedia]
snp3D : Map Gene to Disease199713
BioCentury BCIQNLRP7
ClinGenNLRP7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD199713
Chemical/Pharm GKB GenePA162398003
Clinical trialNLRP7
Miscellaneous
canSAR (ICR)NLRP7 (select the gene name)
DataMed IndexNLRP7
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNLRP7
EVEXNLRP7
GoPubMedNLRP7
iHOPNLRP7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:58:12 CET 2019
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