Gene Page: NLRP1

Summary ?
GeneID22861
SymbolNLRP1
SynonymsCARD7|CIDED|CLR17.1|DEFCAP|DEFCAP-L/S|NAC|NALP1|PP1044|SLEV1|VAMAS1
DescriptionNLR family, pyrin domain containing 1
ReferenceMIM:606636|HGNC:HGNC:14374|Ensembl:ENSG00000091592|HPRD:07364|Vega:OTTHUMG00000132419
Gene typeprotein-coding
Map location17p13.2
Pascal p-value0.299
DEG p-valueDEG:Sanders_2014:DS1_p=-0.156:DS1_beta=0.017900:DS2_p=7.99e-01:DS2_beta=0.012:DS2_FDR=9.08e-01
Fetal beta-0.448
eGeneMyers' cis & trans
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DEG:Sanders_2013MicroarrayWhole-genome gene expression profiles using microarrays on lymphoblastoid cell lines (LCLs) from 413 cases and 446 controls.
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
NLRP1chr175418224GTNM_001033053
NM_014922
NM_033004
NM_033006
NM_033007		.
p.1380S>R
p.1424S>R
p.1394S>R
p.1350S>R		intronic
missense
missense
missense
missense		SchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs17799628chr9106442995NLRP1228610.18trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0005515protein bindingIEA-
GO:0005524ATP bindingIDA15212762 
GO:0005524ATP bindingIEA-
GO:0008656caspase activator activityNAS11076957 
GO:0019899enzyme bindingIPI11076957 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0051402neuron apoptosisIDAneuron, axon, dendrite (GO term level: 7)15212762 
GO:0006917induction of apoptosisNAS11076957 
GO:0006952defense responseIEA-
GO:0006919caspase activationNAS11076957 
GO:0042981regulation of apoptosisIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005622intracellularIC11076957 
GO:0005634nucleusIEA-
GO:0005737cytoplasmIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG NOD LIKE RECEPTOR SIGNALING PATHWAY 6247All SZGR 2.0 genes in this pathway
PID ANTHRAX PATHWAY 1715All SZGR 2.0 genes in this pathway
REACTOME INNATE IMMUNE SYSTEM 279178All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
REACTOME INFLAMMASOMES 1712All SZGR 2.0 genes in this pathway
REACTOME NUCLEOTIDE BINDING DOMAIN LEUCINE RICH REPEAT CONTAINING RECEPTOR NLR SIGNALING PATHWAYS 4633All SZGR 2.0 genes in this pathway
CASORELLI ACUTE PROMYELOCYTIC LEUKEMIA UP 177110All SZGR 2.0 genes in this pathway
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA DN 320184All SZGR 2.0 genes in this pathway
HOEBEKE LYMPHOID STEM CELL UP 9564All SZGR 2.0 genes in this pathway
HAHTOLA MYCOSIS FUNGOIDES CD4 DN 11671All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 DN 229142All SZGR 2.0 genes in this pathway
ODONNELL METASTASIS UP 8258All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355243All SZGR 2.0 genes in this pathway
PEREZ TP53 AND TP63 TARGETS 205145All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS DN 261155All SZGR 2.0 genes in this pathway
SWEET KRAS TARGETS UP 8451All SZGR 2.0 genes in this pathway
ADDYA ERYTHROID DIFFERENTIATION BY HEMIN 7347All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298200All SZGR 2.0 genes in this pathway
BILD MYC ONCOGENIC SIGNATURE 206117All SZGR 2.0 genes in this pathway
LEE METASTASIS AND ALTERNATIVE SPLICING DN 4531All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN UP 439257All SZGR 2.0 genes in this pathway
SMID BREAST CANCER RELAPSE IN BONE DN 315197All SZGR 2.0 genes in this pathway
SMID BREAST CANCER LUMINAL B DN 564326All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476285All SZGR 2.0 genes in this pathway
PODAR RESPONSE TO ADAPHOSTIN UP 14798All SZGR 2.0 genes in this pathway
BOHN PRIMARY IMMUNODEFICIENCY SYNDROM UP 4730All SZGR 2.0 genes in this pathway
YAGI AML WITH INV 16 TRANSLOCATION 422277All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 30MIN DN 15099All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 4HR DN 254158All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-1432022081Ahsa-miR-143brainUGAGAUGAAGCACUGUAGCUCA