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PLEKHD1 (pleckstrin homology and coiled-coil domain containing D1)

Identity

Alias_namespleckstrin homology domain containing, family D (with M protein repeats) member 1
pleckstrin homology domain containing, family D (with coiled-coil domains) member 1
Alias_symbol (synonym)UPF0639
Other alias
HGNC (Hugo) PLEKHD1
LocusID (NCBI) 400224
Atlas_Id 71975
Location 14q24.1  [Link to chromosome band 14q24]
Location_base_pair Starts at 69484754 and ends at 69528498 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PLEKHD1 (14q24.1) / SLC39A9 (14q24.1)

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

 


External links

Nomenclature
HGNC (Hugo)PLEKHD1   20148
Cards
Entrez_Gene (NCBI)PLEKHD1  400224  pleckstrin homology and coiled-coil domain containing D1
AliasesUPF0639
GeneCards (Weizmann)PLEKHD1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr14:69484754-69528498 [Contig_View]  PLEKHD1 [Vega]
TCGA cBioPortalPLEKHD1
AceView (NCBI)PLEKHD1
Genatlas (Paris)PLEKHD1
WikiGenes400224
SOURCE (Princeton)PLEKHD1
Genetics Home Reference (NIH)PLEKHD1
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHD1  -     chr14:69484754-69528498 +  14q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHD1  -     14q24.1   [Description]    (hg19-Feb_2009)
EnsemblPLEKHD1 - 14q24.1 [CytoView hg19]  PLEKHD1 - 14q24.1 [CytoView hg38]
Mapping of homologs : NCBIPLEKHD1 [Mapview hg19]  PLEKHD1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK126770 BC146872 CV325135
RefSeq transcript (Entrez)NM_001161498
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHD1
Cluster EST : UnigeneHs.509796 [ NCBI ]
CGAP (NCI)Hs.509796
Gene ExpressionPLEKHD1 [ NCBI-GEO ]   PLEKHD1 [ EBI - ARRAY_EXPRESS ]   PLEKHD1 [ SEEK ]   PLEKHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)400224
GTEX Portal (Tissue expression)PLEKHD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtA6NEE1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA6NEE1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA6NEE1
Splice isoforms : SwissVarA6NEE1
PhosPhoSitePlusA6NEE1
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)PH (PF00169)   
Domain families : Pfam (NCBI)pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)PLEKHD1
DMDM Disease mutations400224
Blocks (Seattle)PLEKHD1
SuperfamilyA6NEE1
Peptide AtlasA6NEE1
IPIIPI00401834   IPI01018151   
Protein Interaction databases
DIP (DOE-UCLA)A6NEE1
IntAct (EBI)A6NEE1
BioGRIDPLEKHD1
STRING (EMBL)PLEKHD1
ZODIACPLEKHD1
Ontologies - Pathways
QuickGOA6NEE1
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkPLEKHD1
Atlas of Cancer Signalling NetworkPLEKHD1
Wikipedia pathwaysPLEKHD1
Orthology - Evolution
OrthoDB400224
Phylogenetic Trees/Animal Genes : TreeFamPLEKHD1
HOVERGENA6NEE1
HOGENOMA6NEE1
Homologs : HomoloGenePLEKHD1
Homology/Alignments : Family Browser (UCSC)PLEKHD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHD1
dbVarPLEKHD1
ClinVarPLEKHD1
1000_GenomesPLEKHD1 
Exome Variant ServerPLEKHD1
ExAC (Exome Aggregation Consortium)PLEKHD1 (select the gene name)
Genetic variants : HAPMAP400224
Genomic Variants (DGV)PLEKHD1 [DGVbeta]
DECIPHERPLEKHD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHD1 
Mutations
ICGC Data PortalPLEKHD1 
TCGA Data PortalPLEKHD1 
Broad Tumor PortalPLEKHD1
OASIS PortalPLEKHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHD1
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 PLEKHD1
DgiDB (Drug Gene Interaction Database)PLEKHD1
DoCM (Curated mutations)PLEKHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHD1 (select a term)
intoGenPLEKHD1
Cancer3DPLEKHD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenPLEKHD1
Genetic Testing Registry PLEKHD1
NextProtA6NEE1 [Medical]
TSGene400224
GENETestsPLEKHD1
Target ValidationPLEKHD1
Huge Navigator PLEKHD1 [HugePedia]
snp3D : Map Gene to Disease400224
BioCentury BCIQPLEKHD1
ClinGenPLEKHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD400224
Chemical/Pharm GKB GenePA134948413
Clinical trialPLEKHD1
Miscellaneous
canSAR (ICR)PLEKHD1 (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHD1
EVEXPLEKHD1
GoPubMedPLEKHD1
iHOPPLEKHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:36:35 CEST 2017

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