Gene Page:NLRP1

Summary?
GeneID 22861
Symbol NLRP1
Synonyms CARD7|CIDED|CLR17.1|DEFCAP|DEFCAP-L/S|NAC|NALP1|PP1044|SLEV1|VAMAS1
Description NLR family, pyrin domain containing 1
Reference MIM:606636|HGNC:HGNC:14374|Ensembl:ENSG00000091592|HPRD:07364|Vega:OTTHUMG00000132419
Gene type protein-coding
Map location 17p13.2
Pascal p-value 0.299
DEG p-value DEG: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
eGene Myers' cis & trans
Support CompositeSet

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DEG:Sanders_2013 Microarray Whole-genome gene expression profiles using microarrays on lymphoblastoid cell lines (LCLs) from 413 cases and 446 controls.
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 1

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
NLRP1 chr17 5418224 G T NM_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		 Schizophrenia DNM:Fromer_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs17799628 chr9 106442995 NLRP1 22861 0.18 trans

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
死神: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 function 去的术语 Evidence Neuro keywords PubMed ID
GO:0000166 nucleotide binding IEA -
GO:0005515 protein binding IEA -
GO:0005524 ATP binding IDA 15212762
GO:0005524 ATP binding IEA -
GO:0008656 caspase activator activity NAS 11076957
GO:0019899 enzyme binding 新闻学会 11076957
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0051402 neuron apoptosis IDA neuron, axon, dendrite (GO term level: 7) 15212762
GO:0006917 induction of apoptosis NAS 11076957
GO:0006952 defense response IEA -
GO:0006919 caspase activation NAS 11076957
GO:0042981 regulation of apoptosis IEA -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005622 intracellular IC 11076957
GO:0005634 nucleus IEA -
GO:0005737 cytoplasm IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG NOD LIKE RECEPTOR SIGNALING PATHWAY 62 47 All SZGR 2.0 genes in this pathway
PID ANTHRAX PATHWAY 17 15 All SZGR 2.0 genes in this pathway
REACTOME INNATE IMMUNE SYSTEM 279 178 All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933 616 All SZGR 2.0 genes in this pathway
REACTOME INFLAMMASOMES 17 12 All SZGR 2.0 genes in this pathway
REACTOME NUCLEOTIDE BINDING DOMAIN LEUCINE RICH REPEAT CONTAINING RECEPTOR NLR SIGNALING PATHWAYS 46 33 All SZGR 2.0 genes in this pathway
CASORELLI ACUTE PROMYELOCYTIC LEUKEMIA UP 177 110 All SZGR 2.0 genes in this pathway
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA DN 320 184 All SZGR 2.0 genes in this pathway
HOEBEKE LYMPHOID STEM CELL UP 95 64 All SZGR 2.0 genes in this pathway
HAHTOLA MYCOSIS FUNGOIDES CD4 DN 116 71 All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 DN 229 142 All SZGR 2.0 genes in this pathway
ODONNELL METASTASIS UP 82 58 All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355 243 All SZGR 2.0 genes in this pathway
PEREZ TP53 AND TP63 TARGETS 205 145 All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS DN 261 155 All SZGR 2.0 genes in this pathway
SWEET KRAS TARGETS UP 84 51 All SZGR 2.0 genes in this pathway
ADDYA ERYTHROID DIFFERENTIATION BY HEMIN 73 47 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298 200 All SZGR 2.0 genes in this pathway
BILD MYC ONCOGENIC SIGNATURE 206 117 All SZGR 2.0 genes in this pathway
LEE METASTASIS AND ALTERNATIVE SPLICING DN 45 31 All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN UP 439 257 All SZGR 2.0 genes in this pathway
SMID BREAST CANCER RELAPSE IN BONE DN 315 197 All SZGR 2.0 genes in this pathway
乳腺癌萧述三腔的DN 564 326 All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476 285 All SZGR 2.0 genes in this pathway
PODAR RESPONSE TO ADAPHOSTIN UP 147 98 All SZGR 2.0 genes in this pathway
BOHN PRIMARY IMMUNODEFICIENCY SYNDROM UP 47 30 All SZGR 2.0 genes in this pathway
YAGI AML WITH INV 16 TRANSLOCATION 422 277 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 30MIN DN 150 99 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 4HR DN 254 158 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-143 202 208 1A hsa-miR-143brain UGAGAUGAAGCACUGUAGCUCA