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PI3 (peptidase inhibitor 3, skin-derived)

Identity

Other namesESI
SKALP
WAP3
WFDC14
cementoin
HGNC (Hugo) PI3
LocusID (NCBI) 5266
Location 20q13.12
Location_base_pair Starts at 43803540 and ends at 43805185 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)PI3   8947
Cards
Entrez_Gene (NCBI)PI3  5266  peptidase inhibitor 3, skin-derived
GeneCards (Weizmann)PI3
Ensembl hg19 (Hinxton)ENSG00000124102 [Gene_View]  chr20:43803540-43805185 [Contig_View]  PI3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000124102 [Gene_View]  chr20:43803540-43805185 [Contig_View]  PI3 [Vega]
ICGC DataPortalENSG00000124102
cBioPortalPI3
AceView (NCBI)PI3
Genatlas (Paris)PI3
WikiGenes5266
SOURCE (Princeton)PI3
Genomic and cartography
GoldenPath hg19 (UCSC)PI3  -     chr20:43803540-43805185 +  20q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PI3  -     20q13.12   [Description]    (hg38-Dec_2013)
EnsemblPI3 - 20q13.12 [CytoView hg19]  PI3 - 20q13.12 [CytoView hg38]
Mapping of homologs : NCBIPI3 [Mapview hg19]  PI3 [Mapview hg38]
OMIM182257   
Gene and transcription
Genbank (Entrez)AA583773 BC010952 CR542234 DQ892710 DQ895962
RefSeq transcript (Entrez)NM_002638
RefSeq genomic (Entrez)AC_000152 NC_000020 NC_018931 NT_011362 NW_001838666 NW_004929418
Consensus coding sequences : CCDS (NCBI)PI3
Cluster EST : UnigeneHs.112341 [ NCBI ]
CGAP (NCI)Hs.112341
Alternative Splicing : Fast-db (Paris)GSHG0018777
Alternative Splicing GalleryENSG00000124102
Gene ExpressionPI3 [ NCBI-GEO ]     PI3 [ SEEK ]   PI3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19957 (Uniprot)
NextProtP19957  [Medical]
With graphics : InterProP19957
Splice isoforms : SwissVarP19957 (Swissvar)
Domaine pattern : Prosite (Expaxy)SVP_I (PS00313)    WAP (PS51390)   
Domains : Interpro (EBI)SVP_I    Trappin_transglut-bd_rpt    WAP-type_4-diS_core   
Related proteins : CluSTrP19957
Domain families : Pfam (Sanger)Cementoin (PF10511)    WAP (PF00095)   
Domain families : Pfam (NCBI)pfam10511    pfam00095   
Domain families : Smart (EMBL)WAP (SM00217)  
DMDM Disease mutations5266
Blocks (Seattle)P19957
PDB (SRS)1FLE    2REL   
PDB (PDBSum)1FLE    2REL   
PDB (IMB)1FLE    2REL   
PDB (RSDB)1FLE    2REL   
Human Protein AtlasENSG00000124102
Peptide AtlasP19957
HPRD15947
IPIIPI00021434   
Protein Interaction databases
DIP (DOE-UCLA)P19957
IntAct (EBI)P19957
FunCoupENSG00000124102
BioGRIDPI3
IntegromeDBPI3
STRING (EMBL)PI3
Ontologies - Pathways
QuickGOP19957
Ontology : AmiGOendopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  proteinaceous extracellular matrix  copulation  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  extracellular vesicular exosome  
Ontology : EGO-EBIendopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  proteinaceous extracellular matrix  copulation  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  extracellular vesicular exosome  
Protein Interaction DatabasePI3
DoCM (Curated mutations)PI3
Wikipedia pathwaysPI3
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPI3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PI3
dbVarPI3
ClinVarPI3
1000_GenomesPI3 
Exome Variant ServerPI3
SNP (GeneSNP Utah)PI3
SNP : HGBasePI3
Genetic variants : HAPMAPPI3
Genomic VariantsPI3  PI3 [DGVbeta]
Mutations
ICGC Data PortalENSG00000124102 
Somatic Mutations in Cancer : COSMICPI3 
CONAN: Copy Number AnalysisPI3 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)20:43803540-43805185
Mutations and Diseases : HGMDPI3
OMIM182257   
MedgenPI3
NextProtP19957 [Medical]
GENETestsPI3
Disease Genetic AssociationPI3
Huge Navigator PI3 [HugePedia]  PI3 [HugeCancerGEM]
snp3D : Map Gene to Disease5266
DGIdb (Drug Gene Interaction db)PI3
General knowledge
Homologs : HomoloGenePI3
Homology/Alignments : Family Browser (UCSC)PI3
Phylogenetic Trees/Animal Genes : TreeFamPI3
Chemical/Protein Interactions : CTD5266
Chemical/Pharm GKB GenePA33283
Clinical trialPI3
Cancer Resource (Charite)ENSG00000124102
Other databases
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
CoreMinePI3
GoPubMedPI3
iHOPPI3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:49:06 CET 2014

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