Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PLEKHB1 (pleckstrin homology domain containing B1)

Identity

Alias (NCBI)KPL1
PHR1
PHRET1
HGNC (Hugo) PLEKHB1
HGNC Alias symbPHR1
KPL1
HGNC Previous namePHRET1
HGNC Previous namePH domain containing, retinal 1
 pleckstrin homology domain containing, family B (evectins) member 1
LocusID (NCBI) 58473
Atlas_Id 71974
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 73646178 and ends at 73662819 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)
DDX39B (6p21.33) / PLEKHB1 (11q13.4)FCHSD2 (11q13.4) / PLEKHB1 (11q13.4)MALAT1 (11q13.1) / PLEKHB1 (11q13.4)
PLEKHB1 (11q13.4) / PACS1 (11q13.1)PLEKHB1 (11q13.4) / PLEKHB1 (11q13.4)

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) [ 2 ]
  FCHSD2/PLEKHB1 (11q13)
PLEKHB1/PACS1 (11q13)

External links

Nomenclature
HGNC (Hugo)PLEKHB1   19079
Cards
Entrez_Gene (NCBI)PLEKHB1    pleckstrin homology domain containing B1
AliasesKPL1; PHR1; PHRET1
GeneCards (Weizmann)PLEKHB1
Ensembl hg19 (Hinxton)ENSG00000021300 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000021300 [Gene_View]  ENSG00000021300 [Sequence]  chr11:73646178-73662819 [Contig_View]  PLEKHB1 [Vega]
ICGC DataPortalENSG00000021300
TCGA cBioPortalPLEKHB1
AceView (NCBI)PLEKHB1
Genatlas (Paris)PLEKHB1
SOURCE (Princeton)PLEKHB1
Genetics Home Reference (NIH)PLEKHB1
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHB1  -     chr11:73646178-73662819 +  11q13.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHB1  -     11q13.4   [Description]    (hg19-Feb_2009)
GoldenPathPLEKHB1 - 11q13.4 [CytoView hg19]  PLEKHB1 - 11q13.4 [CytoView hg38]
ImmunoBaseENSG00000021300
genome Data Viewer NCBIPLEKHB1 [Mapview hg19]  
OMIM607651   
Gene and transcription
Genbank (Entrez)AB209716 AF081583 AF093249 AF100612 AF101054
RefSeq transcript (Entrez)NM_001130033 NM_001130034 NM_001130035 NM_001130036 NM_021200
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHB1
Alternative Splicing GalleryENSG00000021300
Gene ExpressionPLEKHB1 [ NCBI-GEO ]   PLEKHB1 [ EBI - ARRAY_EXPRESS ]   PLEKHB1 [ SEEK ]   PLEKHB1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHB1 [ Firebrowse - Broad ]
GenevisibleExpression of PLEKHB1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)58473
GTEX Portal (Tissue expression)PLEKHB1
Human Protein AtlasENSG00000021300-PLEKHB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UF11   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UF11  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UF11
Splice isoforms : SwissVarQ9UF11
PhosPhoSitePlusQ9UF11
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)PH-like_dom_sf    PH_domain    PLEKHB1    PLEKHB1/2   
Domain families : Pfam (Sanger)PH (PF00169)   
Domain families : Pfam (NCBI)pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)PLEKHB1
Blocks (Seattle)PLEKHB1
SuperfamilyQ9UF11
Human Protein Atlas [tissue]ENSG00000021300-PLEKHB1 [tissue]
Peptide AtlasQ9UF11
HPRD09630
IPIIPI00009635   IPI00006009   IPI00409733   IPI00409734   IPI00903235   IPI00922809   IPI01014043   IPI01013592   IPI01011301   IPI01011770   IPI01012156   IPI01012607   IPI01009424   IPI01010240   IPI01010703   IPI01013286   IPI01013647   
Protein Interaction databases
DIP (DOE-UCLA)Q9UF11
IntAct (EBI)Q9UF11
BioGRIDPLEKHB1
STRING (EMBL)PLEKHB1
ZODIACPLEKHB1
Ontologies - Pathways
QuickGOQ9UF11
Ontology : AmiGOprotein binding  cytoplasm  multicellular organism development  phototransduction  integral component of membrane  integral component of membrane  regulation of cell differentiation  
Ontology : EGO-EBIprotein binding  cytoplasm  multicellular organism development  phototransduction  integral component of membrane  integral component of membrane  regulation of cell differentiation  
NDEx NetworkPLEKHB1
Atlas of Cancer Signalling NetworkPLEKHB1
Wikipedia pathwaysPLEKHB1
Orthology - Evolution
OrthoDB58473
GeneTree (enSembl)ENSG00000021300
Phylogenetic Trees/Animal Genes : TreeFamPLEKHB1
HOGENOMQ9UF11
Homologs : HomoloGenePLEKHB1
Homology/Alignments : Family Browser (UCSC)PLEKHB1
Gene fusions - Rearrangements
Fusion : QuiverPLEKHB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHB1 [hg38]
dbVarPLEKHB1
ClinVarPLEKHB1
MonarchPLEKHB1
1000_GenomesPLEKHB1 
Exome Variant ServerPLEKHB1
GNOMAD BrowserENSG00000021300
Varsome BrowserPLEKHB1
Genomic Variants (DGV)PLEKHB1 [DGVbeta]
DECIPHERPLEKHB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHB1 
Mutations
ICGC Data PortalPLEKHB1 
TCGA Data PortalPLEKHB1 
Broad Tumor PortalPLEKHB1
OASIS PortalPLEKHB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHB1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPLEKHB1
Mutations and Diseases : HGMDPLEKHB1
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 PLEKHB1
DgiDB (Drug Gene Interaction Database)PLEKHB1
DoCM (Curated mutations)PLEKHB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHB1 (select a term)
intoGenPLEKHB1
Cancer3DPLEKHB1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607651   
Orphanet
DisGeNETPLEKHB1
MedgenPLEKHB1
Genetic Testing Registry PLEKHB1
NextProtQ9UF11 [Medical]
GENETestsPLEKHB1
Target ValidationPLEKHB1
Huge Navigator PLEKHB1 [HugePedia]
ClinGenPLEKHB1
Clinical trials, drugs, therapy
MyCancerGenomePLEKHB1
Protein Interactions : CTD
Pharm GKB GenePA38787
Clinical trialPLEKHB1
Miscellaneous
canSAR (ICR)PLEKHB1 (select the gene name)
HarmonizomePLEKHB1
DataMed IndexPLEKHB1
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHB1
EVEXPLEKHB1
GoPubMedPLEKHB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 17:22:47 CET 2020
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