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PLEKHN1 (pleckstrin homology domain containing N1)

Identity

Alias (NCBI)CLPABP
HGNC (Hugo) PLEKHN1
HGNC Alias symbDKFZP434H2010
HGNC Previous namepleckstrin homology domain containing, family N member 1
LocusID (NCBI) 84069
Atlas_Id 71989
Location 1p36.33  [Link to chromosome band 1p36]
Location_base_pair Starts at 966497 and ends at 975104 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)
MIB2 (1p36.33) / PLEKHN1 (1p36.33)

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) [ 1 ]
  MIB2/PLEKHN1 (1p36)


External links

Nomenclature
HGNC (Hugo)PLEKHN1   25284
Cards
Entrez_Gene (NCBI)PLEKHN1  84069  pleckstrin homology domain containing N1
AliasesCLPABP
GeneCards (Weizmann)PLEKHN1
Ensembl hg19 (Hinxton)ENSG00000187583 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187583 [Gene_View]  ENSG00000187583 [Sequence]  chr1:966497-975104 [Contig_View]  PLEKHN1 [Vega]
ICGC DataPortalENSG00000187583
TCGA cBioPortalPLEKHN1
AceView (NCBI)PLEKHN1
Genatlas (Paris)PLEKHN1
WikiGenes84069
SOURCE (Princeton)PLEKHN1
Genetics Home Reference (NIH)PLEKHN1
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHN1  -     chr1:966497-975104 +  1p36.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHN1  -     1p36.33   [Description]    (hg19-Feb_2009)
GoldenPathPLEKHN1 - 1p36.33 [CytoView hg19]  PLEKHN1 - 1p36.33 [CytoView hg38]
ImmunoBaseENSG00000187583
genome Data Viewer NCBIPLEKHN1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AL136730 BC101386 BC101387
RefSeq transcript (Entrez)NM_001160184 NM_001367552 NM_032129
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHN1
Alternative Splicing GalleryENSG00000187583
Gene ExpressionPLEKHN1 [ NCBI-GEO ]   PLEKHN1 [ EBI - ARRAY_EXPRESS ]   PLEKHN1 [ SEEK ]   PLEKHN1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHN1 [ Firebrowse - Broad ]
GenevisibleExpression of PLEKHN1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84069
GTEX Portal (Tissue expression)PLEKHN1
Human Protein AtlasENSG00000187583-PLEKHN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ494U1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ494U1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ494U1
Splice isoforms : SwissVarQ494U1
PhosPhoSitePlusQ494U1
Domains : Interpro (EBI)PH-like_dom_sf    PH_domain    PLEKHN1    PLEKHN1_PH   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)PLEKHN1
DMDM Disease mutations84069
Blocks (Seattle)PLEKHN1
SuperfamilyQ494U1
Human Protein Atlas [tissue]ENSG00000187583-PLEKHN1 [tissue]
Peptide AtlasQ494U1
HPRD13190
IPIIPI00844469   IPI00030240   IPI00644132   
Protein Interaction databases
DIP (DOE-UCLA)Q494U1
IntAct (EBI)Q494U1
FunCoupENSG00000187583
BioGRIDPLEKHN1
STRING (EMBL)PLEKHN1
ZODIACPLEKHN1
Ontologies - Pathways
QuickGOQ494U1
Ontology : AmiGOresponse to hypoxia  phosphatidylserine binding  protein binding  mitochondrion  cytoskeleton  plasma membrane  mitochondrial membrane  positive regulation of apoptotic process  3'-UTR-mediated mRNA destabilization  phosphatidic acid binding  cardiolipin binding  phosphatidylinositol phosphate binding  
Ontology : EGO-EBIresponse to hypoxia  phosphatidylserine binding  protein binding  mitochondrion  cytoskeleton  plasma membrane  mitochondrial membrane  positive regulation of apoptotic process  3'-UTR-mediated mRNA destabilization  phosphatidic acid binding  cardiolipin binding  phosphatidylinositol phosphate binding  
NDEx NetworkPLEKHN1
Atlas of Cancer Signalling NetworkPLEKHN1
Wikipedia pathwaysPLEKHN1
Orthology - Evolution
OrthoDB84069
GeneTree (enSembl)ENSG00000187583
Phylogenetic Trees/Animal Genes : TreeFamPLEKHN1
HOGENOMQ494U1
Homologs : HomoloGenePLEKHN1
Homology/Alignments : Family Browser (UCSC)PLEKHN1
Gene fusions - Rearrangements
Fusion : QuiverPLEKHN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHN1
dbVarPLEKHN1
ClinVarPLEKHN1
1000_GenomesPLEKHN1 
Exome Variant ServerPLEKHN1
GNOMAD BrowserENSG00000187583
Varsome BrowserPLEKHN1
Genetic variants : HAPMAP84069
Genomic Variants (DGV)PLEKHN1 [DGVbeta]
DECIPHERPLEKHN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHN1 
Mutations
ICGC Data PortalPLEKHN1 
TCGA Data PortalPLEKHN1 
Broad Tumor PortalPLEKHN1
OASIS PortalPLEKHN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHN1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPLEKHN1
Mutations and Diseases : HGMDPLEKHN1
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 PLEKHN1
DgiDB (Drug Gene Interaction Database)PLEKHN1
DoCM (Curated mutations)PLEKHN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHN1 (select a term)
intoGenPLEKHN1
Cancer3DPLEKHN1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETPLEKHN1
MedgenPLEKHN1
Genetic Testing Registry PLEKHN1
NextProtQ494U1 [Medical]
TSGene84069
GENETestsPLEKHN1
Target ValidationPLEKHN1
Huge Navigator PLEKHN1 [HugePedia]
snp3D : Map Gene to Disease84069
BioCentury BCIQPLEKHN1
ClinGenPLEKHN1
Clinical trials, drugs, therapy
Protein Interactions : CTD84069
Pharm GKB GenePA142671166
Clinical trialPLEKHN1
Miscellaneous
canSAR (ICR)PLEKHN1 (select the gene name)
HarmonizomePLEKHN1
DataMed IndexPLEKHN1
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHN1
EVEXPLEKHN1
GoPubMedPLEKHN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 16:23:21 CEST 2020

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