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PHLDB1 (pleckstrin homology like domain family B member 1)

Identity

Alias (NCBI)LL5A
HGNC (Hugo) PHLDB1
HGNC Alias symbFLJ00141
LL5a
KIAA0638
HGNC Previous namepleckstrin homology-like domain, family B, member 1
LocusID (NCBI) 23187
Atlas_Id 54007
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 118606436 and ends at 118658028 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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Familial glioma

External links

 

Nomenclature
HGNC (Hugo)PHLDB1   23697
Cards
Entrez_Gene (NCBI)PHLDB1    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]  chr11:118606436-118658028 [Contig_View]  PHLDB1 [Vega]
ICGC DataPortalENSG00000019144
TCGA cBioPortalPHLDB1
AceView (NCBI)PHLDB1
Genatlas (Paris)PHLDB1
SOURCE (Princeton)PHLDB1
Genetics Home Reference (NIH)PHLDB1
Genomic and cartography
GoldenPath hg38 (UCSC)PHLDB1  -     chr11:118606436-118658028 +  11q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHLDB1  -     11q23.3   [Description]    (hg19-Feb_2009)
GoldenPathPHLDB1 - 11q23.3 [CytoView hg19]  PHLDB1 - 11q23.3 [CytoView hg38]
ImmunoBaseENSG00000019144
Genome Data Viewer NCBIPHLDB1 [Mapview hg19]  
OMIM612834   
Gene and transcription
Genbank (Entrez)AB014538 AB094090 AB177859 AI917888 AK021690
RefSeq transcript (Entrez)NM_001144758 NM_001144759 NM_015157
Consensus coding sequences : CCDS (NCBI)PHLDB1
Gene ExpressionPHLDB1 [ NCBI-GEO ]   PHLDB1 [ EBI - ARRAY_EXPRESS ]   PHLDB1 [ SEEK ]   PHLDB1 [ MEM ]
Gene Expression Viewer (FireBrowse)PHLDB1 [ Firebrowse - Broad ]
GenevisibleExpression of PHLDB1 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
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
SuperfamilyQ86UU1
AlphaFold pdb e-kbQ86UU1   
Human Protein Atlas [tissue]ENSG00000019144-PHLDB1 [tissue]
HPRD15128
Protein Interaction databases
DIP (DOE-UCLA)Q86UU1
IntAct (EBI)Q86UU1
BioGRIDPHLDB1
STRING (EMBL)PHLDB1
ZODIACPHLDB1
Ontologies - Pathways
QuickGOQ86UU1
Ontology : AmiGOprotein binding  regulation of gastrulation  regulation of epithelial to mesenchymal transition  basal cortex  basal cortex  regulation of microtubule cytoskeleton organization  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-EBIprotein binding  regulation of gastrulation  regulation of epithelial to mesenchymal transition  basal cortex  basal cortex  regulation of microtubule cytoskeleton organization  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
Homologs : HomoloGenePHLDB1
Homology/Alignments : Family Browser (UCSC)PHLDB1
Gene fusions - Rearrangements
Fusion : MitelmanCBL::PHLDB1 [11q23.3/11q23.3]  
Fusion : MitelmanPHLDB1::IL10RA [11q23.3/11q23.3]  
Fusion : MitelmanPHLDB1::RNF121 [11q23.3/11q13.4]  
Fusion : QuiverPHLDB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHLDB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHLDB1
dbVarPHLDB1
ClinVarPHLDB1
MonarchPHLDB1
1000_GenomesPHLDB1 
Exome Variant ServerPHLDB1
GNOMAD BrowserENSG00000019144
Varsome BrowserPHLDB1
ACMGPHLDB1 variants
VarityQ86UU1
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]  
Somatic Mutations in Cancer : COSMIC3DPHLDB1
Mutations and Diseases : HGMDPHLDB1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPHLDB1
DgiDB (Drug Gene Interaction Database)PHLDB1
DoCM (Curated mutations)PHLDB1
CIViC (Clinical Interpretations of Variants in Cancer)PHLDB1
Cancer3DPHLDB1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612834   
Orphanet
DisGeNETPHLDB1
MedgenPHLDB1
Genetic Testing Registry PHLDB1
NextProtQ86UU1 [Medical]
GENETestsPHLDB1
Target ValidationPHLDB1
Huge Navigator PHLDB1 [HugePedia]
ClinGenPHLDB1
Clinical trials, drugs, therapy
MyCancerGenomePHLDB1
Protein Interactions : CTDPHLDB1
Pharm GKB GenePA134917952
PharosQ86UU1
Clinical trialPHLDB1
Miscellaneous
canSAR (ICR)PHLDB1
HarmonizomePHLDB1
ARCHS4PHLDB1
DataMed IndexPHLDB1
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPHLDB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:52:07 CET 2022
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