Gene Page: PYCARD

Summary ?
GeneID29108
SymbolPYCARD
SynonymsASC|CARD5|TMS|TMS-1|TMS1
DescriptionPYD and CARD domain containing
ReferenceMIM:606838|HGNC:HGNC:16608|Ensembl:ENSG00000103490|HPRD:06020|Vega:OTTHUMG00000176753
Gene typeprotein-coding
Map location16p11.2
Pascal p-value0.27
Sherlock p-value0.274
TADA p-value0.009
Fetal beta-1.215
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01775 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
PYCARDchr1631213117ACNM_013258
NM_145182		p.126V>G
p.107V>G		missense
missense		SchizophreniaDNM:Fromer_2014


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:0005515protein bindingIPI12019269 
GO:0004197cysteine-type endopeptidase activityIEA-
GO:0008656caspase activator activityNAS12019269 
GO:0032090Pyrin domain bindingIPI15030775 
GO:0042803protein homodimerization activityIDA15030775 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006508proteolysisIEA-
GO:0006917induction of apoptosisTAS10567338 
GO:0007165signal transductionNAS12019269 
GO:0006954inflammatory responseIEA-
GO:0006919caspase activationNAS12019269 
GO:0033209tumor necrosis factor-mediated signaling pathwayIDA12656673 
GO:0051092positive regulation of NF-kappaB transcription factor activityIDA12656673 
GO:0050718positive regulation of interleukin-1 beta secretionIDA15030775 
GO:0045786negative regulation of cell cycleIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005829cytosolIEA-
GO:0005576extracellular regionIEA-
GO:0005622intracellularIEA-
GO:0005737cytoplasmNAS12019269 
GO:0008385IkappaB kinase complexTAS12656673 

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
KEGG CYTOSOLIC DNA SENSING PATHWAY 5644All SZGR 2.0 genes in this pathway
PID P53 DOWNSTREAM PATHWAY 13794All 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 THE NLRP3 INFLAMMASOME 129All 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
HOLLMANN APOPTOSIS VIA CD40 DN 267178All SZGR 2.0 genes in this pathway
DOANE RESPONSE TO ANDROGEN DN 241146All SZGR 2.0 genes in this pathway
NOJIMA SFRP2 TARGETS DN 2518All SZGR 2.0 genes in this pathway
JAEGER METASTASIS DN 258141All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 UP 380236All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 UP 418263All SZGR 2.0 genes in this pathway
GOZGIT ESR1 TARGETS DN 781465All SZGR 2.0 genes in this pathway
HUMMERICH SKIN CANCER PROGRESSION UP 8858All SZGR 2.0 genes in this pathway
FURUKAWA DUSP6 TARGETS PCI35 UP 7432All SZGR 2.0 genes in this pathway
SCHLESINGER METHYLATED DE NOVO IN CANCER 8864All SZGR 2.0 genes in this pathway
OHM METHYLATED IN ADULT CANCERS 2723All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN 848527All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN 1024594All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637377All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
ROSS AML WITH MLL FUSIONS 7845All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS INTERMEDIATE PROGENITOR 14984All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 419273All SZGR 2.0 genes in this pathway
WANG LSD1 TARGETS UP 2414All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE DN 258160All SZGR 2.0 genes in this pathway
GRADE COLON CANCER UP 871505All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
CHANDRAN METASTASIS DN 306191All SZGR 2.0 genes in this pathway
MIKKELSEN ES ICP WITH H3K4ME3 718401All SZGR 2.0 genes in this pathway
PHESSE TARGETS OF APC AND MBD2 UP 2014All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
KIM GLIS2 TARGETS UP 8461All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS UP 745475All SZGR 2.0 genes in this pathway
ZWANG EGF INTERVAL DN 214124All SZGR 2.0 genes in this pathway