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PHLDB1 (pleckstrin homology like domain family B member 1)

Identity

Alias_namespleckstrin homology-like domain
Alias_symbol (synonym)FLJ00141
LL5a
KIAA0638
Other aliasLL5A
HGNC (Hugo) PHLDB1
LocusID (NCBI) 23187
Atlas_Id 54007
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 118606498 and ends at 118658038 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)
CBL (11q23.3) / PHLDB1 (11q23.3)NEAT1 (11q13.1) / PHLDB1 (11q23.3)PHLDB1 (11q23.3) / IL10RA (11q23.3)
PHLDB1 (11q23.3) / ITGA9 (3p22.2)PHLDB1 (11q23.3) / PHLDB1 (11q23.3)PHLDB1 (11q23.3) / RNF121 (11q13.4)
PHLDB1 (11q23.3) / SNAP47 (1q42.13)PHLDB1 (11q23.3) / TAGLN (11q23.3)PHLDB1 (11q23.3) / TEAD2 (19q13.33)
SMAD3 (15q22.33) / PHLDB1 (11q23.3)CBL 11q23.3 / PHLDB1 11q23.3PHLDB1 11q23.3 / IL10RA 11q23.3
PHLDB1 11q23.3 / RNF121 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) [ 3 ]
  t(11;11)(q13;q23) PHLDB1/RNF121
CBL/PHLDB1 (11q23)
PHLDB1/IL10RA (11q23)

External links

Nomenclature
HGNC (Hugo)PHLDB1   23697
Cards
Entrez_Gene (NCBI)PHLDB1  23187  pleckstrin homology like domain family B member 1
AliasesLL5A
GeneCards (Weizmann)PHLDB1
Ensembl hg19 (Hinxton)ENSG00000019144 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000019144 [Gene_View]  ENSG00000019144 [Sequence]  chr11:118606498-118658038 [Contig_View]  PHLDB1 [Vega]
ICGC DataPortalENSG00000019144
TCGA cBioPortalPHLDB1
AceView (NCBI)PHLDB1
Genatlas (Paris)PHLDB1
WikiGenes23187
SOURCE (Princeton)PHLDB1
Genetics Home Reference (NIH)PHLDB1
Genomic and cartography
GoldenPath hg38 (UCSC)PHLDB1  -     chr11:118606498-118658038 +  11q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHLDB1  -     11q23.3   [Description]    (hg19-Feb_2009)
EnsemblPHLDB1 - 11q23.3 [CytoView hg19]  PHLDB1 - 11q23.3 [CytoView hg38]
Mapping of homologs : NCBIPHLDB1 [Mapview hg19]  PHLDB1 [Mapview hg38]
OMIM612834   
Gene and transcription
Genbank (Entrez)AB014538 AB094090 AB177859 AI917888 AK021690
RefSeq transcript (Entrez)NM_001144758 NM_001144759 NM_015157
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHLDB1
Cluster EST : UnigeneHs.504062 [ NCBI ]
CGAP (NCI)Hs.504062
Alternative Splicing GalleryENSG00000019144
Gene ExpressionPHLDB1 [ NCBI-GEO ]   PHLDB1 [ EBI - ARRAY_EXPRESS ]   PHLDB1 [ SEEK ]   PHLDB1 [ MEM ]
Gene Expression Viewer (FireBrowse)PHLDB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23187
GTEX Portal (Tissue expression)PHLDB1
Human Protein AtlasENSG00000019144-PHLDB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86UU1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86UU1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86UU1
Splice isoforms : SwissVarQ86UU1
PhosPhoSitePlusQ86UU1
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)FHA_dom    PH-like_dom_sf    PH_domain    PHLDB1/2/3_PH    SMAD_FHA_dom_sf   
Domain families : Pfam (Sanger)PH (PF00169)   
Domain families : Pfam (NCBI)pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)PHLDB1
DMDM Disease mutations23187
Blocks (Seattle)PHLDB1
SuperfamilyQ86UU1
Human Protein Atlas [tissue]ENSG00000019144-PHLDB1 [tissue]
Peptide AtlasQ86UU1
HPRD15128
IPIIPI00413100   IPI00478789   IPI00657870   IPI00910139   IPI01009797   IPI00171456   IPI00979382   IPI00977031   IPI01014013   IPI00983623   IPI00984065   
Protein Interaction databases
DIP (DOE-UCLA)Q86UU1
IntAct (EBI)Q86UU1
FunCoupENSG00000019144
BioGRIDPHLDB1
STRING (EMBL)PHLDB1
ZODIACPHLDB1
Ontologies - Pathways
QuickGOQ86UU1
Ontology : AmiGOregulation of gastrulation  regulation of epithelial to mesenchymal transition  basal cortex  regulation of microtubule cytoskeleton organization  positive regulation of basement membrane assembly involved in embryonic body morphogenesis  positive regulation of basement membrane assembly involved in embryonic body morphogenesis  
Ontology : EGO-EBIregulation of gastrulation  regulation of epithelial to mesenchymal transition  basal cortex  regulation of microtubule cytoskeleton organization  positive regulation of basement membrane assembly involved in embryonic body morphogenesis  positive regulation of basement membrane assembly involved in embryonic body morphogenesis  
NDEx NetworkPHLDB1
Atlas of Cancer Signalling NetworkPHLDB1
Wikipedia pathwaysPHLDB1
Orthology - Evolution
OrthoDB23187
GeneTree (enSembl)ENSG00000019144
Phylogenetic Trees/Animal Genes : TreeFamPHLDB1
HOVERGENQ86UU1
HOGENOMQ86UU1
Homologs : HomoloGenePHLDB1
Homology/Alignments : Family Browser (UCSC)PHLDB1
Gene fusions - Rearrangements
Fusion : MitelmanCBL/PHLDB1 [11q23.3/11q23.3]  [t(11;11)(q23;q23)]  
Fusion : MitelmanPHLDB1/IL10RA [11q23.3/11q23.3]  [t(11;11)(q23;q23)]  
Fusion : MitelmanPHLDB1/RNF121 [11q23.3/11q13.4]  [t(11;11)(q13;q23)]  
Fusion PortalCBL 11q23.3 PHLDB1 11q23.3 BRCA
Fusion PortalPHLDB1 11q23.3 IL10RA 11q23.3 LGG
Fusion PortalPHLDB1 11q23.3 RNF121 11q13.4 PRAD
Fusion : QuiverPHLDB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHLDB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHLDB1
dbVarPHLDB1
ClinVarPHLDB1
1000_GenomesPHLDB1 
Exome Variant ServerPHLDB1
ExAC (Exome Aggregation Consortium)ENSG00000019144
GNOMAD BrowserENSG00000019144
Varsome BrowserPHLDB1
Genetic variants : HAPMAP23187
Genomic Variants (DGV)PHLDB1 [DGVbeta]
DECIPHERPHLDB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHLDB1 
Mutations
ICGC Data PortalPHLDB1 
TCGA Data PortalPHLDB1 
Broad Tumor PortalPHLDB1
OASIS PortalPHLDB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHLDB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHLDB1
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 PHLDB1
DgiDB (Drug Gene Interaction Database)PHLDB1
DoCM (Curated mutations)PHLDB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHLDB1 (select a term)
intoGenPHLDB1
Cancer3DPHLDB1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612834   
Orphanet
DisGeNETPHLDB1
MedgenPHLDB1
Genetic Testing Registry PHLDB1
NextProtQ86UU1 [Medical]
TSGene23187
GENETestsPHLDB1
Target ValidationPHLDB1
Huge Navigator PHLDB1 [HugePedia]
snp3D : Map Gene to Disease23187
BioCentury BCIQPHLDB1
ClinGenPHLDB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23187
Chemical/Pharm GKB GenePA134917952
Clinical trialPHLDB1
Miscellaneous
canSAR (ICR)PHLDB1 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHLDB1
EVEXPHLDB1
GoPubMedPHLDB1
iHOPPHLDB1
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 : Mon Aug 27 11:44:01 CEST 2018
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