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PELI1 (pellino E3 ubiquitin protein ligase 1)

Identity

Alias_namespellino (Drosophila) homolog 1
pellino homolog 1 (Drosophila)
Other alias-
HGNC (Hugo) PELI1
LocusID (NCBI) 57162
Atlas_Id 45969
Location 2p14  [Link to chromosome band 2p14]
Location_base_pair Starts at 64092652 and ends at 64144471 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PELI1 (2p14) / ACTG2 (2p13.1)PELI1 (2p14) / APLF (2p13.3)PELI1 (2p14) / KRT8 (12q13.13)
VPS54 (2p14) / PELI1 (2p14)PELI1 2p14 / ACTG2 2p13.1PELI1 2p14 / APLF 2p13.3
PELI1 2p14 / KRT8 12q13.13VPS54 2p14 / PELI1 2p14

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(2;2)(p13;p14) PELI1/ACTG2
t(2;2)(p13;p14) PELI1/APLF
t(2;12)(p14;q13) PELI1/KRT8

External links

Nomenclature
HGNC (Hugo)PELI1   8827
Cards
Entrez_Gene (NCBI)PELI1  57162  pellino E3 ubiquitin protein ligase 1
Aliases
GeneCards (Weizmann)PELI1
Ensembl hg19 (Hinxton)ENSG00000197329 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197329 [Gene_View]  ENSG00000197329 [Sequence]  chr2:64092652-64144471 [Contig_View]  PELI1 [Vega]
ICGC DataPortalENSG00000197329
TCGA cBioPortalPELI1
AceView (NCBI)PELI1
Genatlas (Paris)PELI1
WikiGenes57162
SOURCE (Princeton)PELI1
Genetics Home Reference (NIH)PELI1
Genomic and cartography
GoldenPath hg38 (UCSC)PELI1  -     chr2:64092652-64144471 -  2p14   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PELI1  -     2p14   [Description]    (hg19-Feb_2009)
EnsemblPELI1 - 2p14 [CytoView hg19]  PELI1 - 2p14 [CytoView hg38]
Mapping of homologs : NCBIPELI1 [Mapview hg19]  PELI1 [Mapview hg38]
OMIM614797   
Gene and transcription
Genbank (Entrez)AF086327 AF300987 AF302505 AJ278859 AK022261
RefSeq transcript (Entrez)NM_020651
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PELI1
Cluster EST : UnigeneHs.7886 [ NCBI ]
CGAP (NCI)Hs.7886
Alternative Splicing GalleryENSG00000197329
Gene ExpressionPELI1 [ NCBI-GEO ]   PELI1 [ EBI - ARRAY_EXPRESS ]   PELI1 [ SEEK ]   PELI1 [ MEM ]
Gene Expression Viewer (FireBrowse)PELI1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57162
GTEX Portal (Tissue expression)PELI1
Human Protein AtlasENSG00000197329-PELI1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96FA3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96FA3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96FA3
Splice isoforms : SwissVarQ96FA3
Catalytic activity : Enzyme2.3.2.27 [ Enzyme-Expasy ]   2.3.2.272.3.2.27 [ IntEnz-EBI ]   2.3.2.27 [ BRENDA ]   2.3.2.27 [ KEGG ]   
PhosPhoSitePlusQ96FA3
Domains : Interpro (EBI)Pellino_fam   
Domain families : Pfam (Sanger)Pellino (PF04710)   
Domain families : Pfam (NCBI)pfam04710   
Conserved Domain (NCBI)PELI1
DMDM Disease mutations57162
Blocks (Seattle)PELI1
SuperfamilyQ96FA3
Human Protein Atlas [tissue]ENSG00000197329-PELI1 [tissue]
Peptide AtlasQ96FA3
HPRD17834
IPIIPI00034167   
Protein Interaction databases
DIP (DOE-UCLA)Q96FA3
IntAct (EBI)Q96FA3
FunCoupENSG00000197329
BioGRIDPELI1
STRING (EMBL)PELI1
ZODIACPELI1
Ontologies - Pathways
QuickGOQ96FA3
Ontology : AmiGOpositive regulation of cytokine production  protein serine/threonine kinase activity  protein binding  nucleus  cytosol  protein phosphorylation  immune response  Toll signaling pathway  positive regulation of B cell proliferation  positive regulation of protein ubiquitination  negative regulation of NF-kappaB transcription factor activity  response to lipopolysaccharide  positive regulation of toll-like receptor 3 signaling pathway  positive regulation of toll-like receptor 4 signaling pathway  ubiquitin-ubiquitin ligase activity  negative regulation of T cell proliferation  positive regulation of I-kappaB kinase/NF-kappaB signaling  response to dsRNA  ubiquitin protein ligase activity  interleukin-1-mediated signaling pathway  protein K48-linked ubiquitination  
Ontology : EGO-EBIpositive regulation of cytokine production  protein serine/threonine kinase activity  protein binding  nucleus  cytosol  protein phosphorylation  immune response  Toll signaling pathway  positive regulation of B cell proliferation  positive regulation of protein ubiquitination  negative regulation of NF-kappaB transcription factor activity  response to lipopolysaccharide  positive regulation of toll-like receptor 3 signaling pathway  positive regulation of toll-like receptor 4 signaling pathway  ubiquitin-ubiquitin ligase activity  negative regulation of T cell proliferation  positive regulation of I-kappaB kinase/NF-kappaB signaling  response to dsRNA  ubiquitin protein ligase activity  interleukin-1-mediated signaling pathway  protein K48-linked ubiquitination  
NDEx NetworkPELI1
Atlas of Cancer Signalling NetworkPELI1
Wikipedia pathwaysPELI1
Orthology - Evolution
OrthoDB57162
GeneTree (enSembl)ENSG00000197329
Phylogenetic Trees/Animal Genes : TreeFamPELI1
HOVERGENQ96FA3
HOGENOMQ96FA3
Homologs : HomoloGenePELI1
Homology/Alignments : Family Browser (UCSC)PELI1
Gene fusions - Rearrangements
Fusion : MitelmanPELI1/ACTG2 [2p14/2p13.1]  
Fusion : MitelmanPELI1/APLF [2p14/2p13.3]  [t(2;2)(p13;p14)]  
Fusion : MitelmanPELI1/KRT8 [2p14/12q13.13]  [t(2;12)(p14;q13)]  
Fusion PortalPELI1 2p14 ACTG2 2p13.1 BRCA
Fusion PortalPELI1 2p14 APLF 2p13.3 BRCA
Fusion PortalPELI1 2p14 KRT8 12q13.13 BRCA
Fusion PortalVPS54 2p14 PELI1 2p14 BLCA
Fusion : QuiverPELI1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPELI1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PELI1
dbVarPELI1
ClinVarPELI1
1000_GenomesPELI1 
Exome Variant ServerPELI1
ExAC (Exome Aggregation Consortium)ENSG00000197329
GNOMAD BrowserENSG00000197329
Genetic variants : HAPMAP57162
Genomic Variants (DGV)PELI1 [DGVbeta]
DECIPHERPELI1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPELI1 
Mutations
ICGC Data PortalPELI1 
TCGA Data PortalPELI1 
Broad Tumor PortalPELI1
OASIS PortalPELI1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPELI1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPELI1
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
BioMutasearch PELI1
DgiDB (Drug Gene Interaction Database)PELI1
DoCM (Curated mutations)PELI1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PELI1 (select a term)
intoGenPELI1
Cancer3DPELI1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614797   
Orphanet
DisGeNETPELI1
MedgenPELI1
Genetic Testing Registry PELI1
NextProtQ96FA3 [Medical]
TSGene57162
GENETestsPELI1
Target ValidationPELI1
Huge Navigator PELI1 [HugePedia]
snp3D : Map Gene to Disease57162
BioCentury BCIQPELI1
ClinGenPELI1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57162
Chemical/Pharm GKB GenePA33172
Clinical trialPELI1
Miscellaneous
canSAR (ICR)PELI1 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePELI1
EVEXPELI1
GoPubMedPELI1
iHOPPELI1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:42:33 CEST 2018
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