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PYDC1 (pyrin domain containing 1)

Identity

Alias_namespyrin domain containing 1
PYD (pyrin domain) containing 1
Alias_symbol (synonym)ASC2
POP1
Other aliasPYC1
cPOP1
HGNC (Hugo) PYDC1
LocusID (NCBI) 260434
Atlas_Id 50214
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 31215962 and ends at 31217093 bp from pter ( according to hg38-Dec_2013)

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)PYDC1   30261
Cards
Entrez_Gene (NCBI)PYDC1  260434  pyrin domain containing 1
AliasesASC2; POP1; PYC1; cPOP1
GeneCards (Weizmann)PYDC1
Ensembl hg19 (Hinxton)ENSG00000169900 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169900 [Gene_View]  chr16:31215962-31217093 [Contig_View]  PYDC1 [Vega]
ICGC DataPortalENSG00000169900
TCGA cBioPortalPYDC1
AceView (NCBI)PYDC1
Genatlas (Paris)PYDC1
WikiGenes260434
SOURCE (Princeton)PYDC1
Genetics Home Reference (NIH)PYDC1
Genomic and cartography
GoldenPath hg38 (UCSC)PYDC1  -     chr16:31215962-31217093 -  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PYDC1  -     16p11.2   [Description]    (hg19-Feb_2009)
EnsemblPYDC1 - 16p11.2 [CytoView hg19]  PYDC1 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBIPYDC1 [Mapview hg19]  PYDC1 [Mapview hg38]
OMIM615700   
Gene and transcription
Genbank (Entrez)AF086332 AF454669 AF467809 AK313418 AY163727
RefSeq transcript (Entrez)NM_152901
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PYDC1
Cluster EST : UnigeneHs.58314 [ NCBI ]
CGAP (NCI)Hs.58314
Alternative Splicing GalleryENSG00000169900
Gene ExpressionPYDC1 [ NCBI-GEO ]   PYDC1 [ EBI - ARRAY_EXPRESS ]   PYDC1 [ SEEK ]   PYDC1 [ MEM ]
Gene Expression Viewer (FireBrowse)PYDC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)260434
GTEX Portal (Tissue expression)PYDC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXC3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXC3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXC3
Splice isoforms : SwissVarQ8WXC3
PhosPhoSitePlusQ8WXC3
Domaine pattern : Prosite (Expaxy)DAPIN (PS50824)   
Domains : Interpro (EBI)DAPIN    DEATH-like_dom   
Domain families : Pfam (Sanger)PYRIN (PF02758)   
Domain families : Pfam (NCBI)pfam02758   
Domain families : Smart (EMBL)PYRIN (SM01289)  
Conserved Domain (NCBI)PYDC1
DMDM Disease mutations260434
Blocks (Seattle)PYDC1
PDB (SRS)2HM2    4QOB   
PDB (PDBSum)2HM2    4QOB   
PDB (IMB)2HM2    4QOB   
PDB (RSDB)2HM2    4QOB   
Structural Biology KnowledgeBase2HM2    4QOB   
SCOP (Structural Classification of Proteins)2HM2    4QOB   
CATH (Classification of proteins structures)2HM2    4QOB   
SuperfamilyQ8WXC3
Human Protein AtlasENSG00000169900
Peptide AtlasQ8WXC3
HPRD17938
IPIIPI00303030   
Protein Interaction databases
DIP (DOE-UCLA)Q8WXC3
IntAct (EBI)Q8WXC3
FunCoupENSG00000169900
BioGRIDPYDC1
STRING (EMBL)PYDC1
ZODIACPYDC1
Ontologies - Pathways
QuickGOQ8WXC3
Ontology : AmiGOprotein binding  nucleus  cytosol  negative regulation of protein kinase activity  IkappaB kinase complex  negative regulation of tumor necrosis factor-mediated signaling pathway  negative regulation of NF-kappaB transcription factor activity  negative regulation of NF-kappaB transcription factor activity  tumor necrosis factor-mediated signaling pathway  innate immune response  negative regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  negative regulation of NLRP3 inflammasome complex assembly  
Ontology : EGO-EBIprotein binding  nucleus  cytosol  negative regulation of protein kinase activity  IkappaB kinase complex  negative regulation of tumor necrosis factor-mediated signaling pathway  negative regulation of NF-kappaB transcription factor activity  negative regulation of NF-kappaB transcription factor activity  tumor necrosis factor-mediated signaling pathway  innate immune response  negative regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  negative regulation of NLRP3 inflammasome complex assembly  
Pathways : KEGGNOD-like receptor signaling pathway   
NDEx NetworkPYDC1
Atlas of Cancer Signalling NetworkPYDC1
Wikipedia pathwaysPYDC1
Orthology - Evolution
OrthoDB260434
GeneTree (enSembl)ENSG00000169900
Phylogenetic Trees/Animal Genes : TreeFamPYDC1
HOVERGENQ8WXC3
HOGENOMQ8WXC3
Homologs : HomoloGenePYDC1
Homology/Alignments : Family Browser (UCSC)PYDC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPYDC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PYDC1
dbVarPYDC1
ClinVarPYDC1
1000_GenomesPYDC1 
Exome Variant ServerPYDC1
ExAC (Exome Aggregation Consortium)PYDC1 (select the gene name)
Genetic variants : HAPMAP260434
Genomic Variants (DGV)PYDC1 [DGVbeta]
DECIPHERPYDC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPYDC1 
Mutations
ICGC Data PortalPYDC1 
TCGA Data PortalPYDC1 
Broad Tumor PortalPYDC1
OASIS PortalPYDC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPYDC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPYDC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PYDC1
DgiDB (Drug Gene Interaction Database)PYDC1
DoCM (Curated mutations)PYDC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PYDC1 (select a term)
intoGenPYDC1
Cancer3DPYDC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615700   
Orphanet
MedgenPYDC1
Genetic Testing Registry PYDC1
NextProtQ8WXC3 [Medical]
TSGene260434
GENETestsPYDC1
Target ValidationPYDC1
Huge Navigator PYDC1 [HugePedia]
snp3D : Map Gene to Disease260434
BioCentury BCIQPYDC1
ClinGenPYDC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD260434
Chemical/Pharm GKB GenePA142671111
Clinical trialPYDC1
Miscellaneous
canSAR (ICR)PYDC1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePYDC1
EVEXPYDC1
GoPubMedPYDC1
iHOPPYDC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:12:11 CEST 2017

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