Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PLEKHH1 (pleckstrin homology, MyTH4 and FERM domain containing H1)

Identity

Alias_namespleckstrin homology domain containing, family H (with MyTH4 domain) member 1
Alias_symbol (synonym)KIAA1200
Other alias-
HGNC (Hugo) PLEKHH1
LocusID (NCBI) 57475
Atlas_Id 71983
Location 14q24.1  [Link to chromosome band 14q24]
Location_base_pair Starts at 67533291 and ends at 67589538 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)
MLLT6 (17q12) / PLEKHH1 (14q24.1)PLEKHH1 (14q24.1) / CASKIN1 (16p13.3)PLEKHH1 (14q24.1) / GPHN (14q23.3)
PLEKHH1 (14q24.1) / PLEKHH1 (14q24.1)PPP2R5E (14q23.2) / PLEKHH1 (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)PLEKHH1   17733
Cards
Entrez_Gene (NCBI)PLEKHH1  57475  pleckstrin homology, MyTH4 and FERM domain containing H1
Aliases
GeneCards (Weizmann)PLEKHH1
Ensembl hg19 (Hinxton)ENSG00000054690 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000054690 [Gene_View]  chr14:67533291-67589538 [Contig_View]  PLEKHH1 [Vega]
ICGC DataPortalENSG00000054690
TCGA cBioPortalPLEKHH1
AceView (NCBI)PLEKHH1
Genatlas (Paris)PLEKHH1
WikiGenes57475
SOURCE (Princeton)PLEKHH1
Genetics Home Reference (NIH)PLEKHH1
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHH1  -     chr14:67533291-67589538 +  14q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHH1  -     14q24.1   [Description]    (hg19-Feb_2009)
EnsemblPLEKHH1 - 14q24.1 [CytoView hg19]  PLEKHH1 - 14q24.1 [CytoView hg38]
Mapping of homologs : NCBIPLEKHH1 [Mapview hg19]  PLEKHH1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB033026 AI792090 AK123262 AK123305 AK124787
RefSeq transcript (Entrez)NM_020715
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHH1
Cluster EST : UnigeneHs.594236 [ NCBI ]
CGAP (NCI)Hs.594236
Alternative Splicing GalleryENSG00000054690
Gene ExpressionPLEKHH1 [ NCBI-GEO ]   PLEKHH1 [ EBI - ARRAY_EXPRESS ]   PLEKHH1 [ SEEK ]   PLEKHH1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57475
GTEX Portal (Tissue expression)PLEKHH1
Human Protein AtlasENSG00000054690-PLEKHH1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULM0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULM0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULM0
Splice isoforms : SwissVarQ9ULM0
PhosPhoSitePlusQ9ULM0
Domaine pattern : Prosite (Expaxy)FERM_3 (PS50057)    MYTH4 (PS51016)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)Band_41_domain    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_domain    MyTH4_dom    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)FERM_M (PF00373)    MyTH4 (PF00784)    PH (PF00169)   
Domain families : Pfam (NCBI)pfam00373    pfam00784    pfam00169   
Domain families : Smart (EMBL)B41 (SM00295)  MyTH4 (SM00139)  PH (SM00233)  
Conserved Domain (NCBI)PLEKHH1
DMDM Disease mutations57475
Blocks (Seattle)PLEKHH1
SuperfamilyQ9ULM0
Human Protein Atlas [tissue]ENSG00000054690-PLEKHH1 [tissue]
Peptide AtlasQ9ULM0
HPRD17862
IPIIPI00401831   IPI00446697   IPI00910094   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULM0
IntAct (EBI)Q9ULM0
FunCoupENSG00000054690
BioGRIDPLEKHH1
STRING (EMBL)PLEKHH1
ZODIACPLEKHH1
Ontologies - Pathways
QuickGOQ9ULM0
Ontology : AmiGOcytoskeleton  
Ontology : EGO-EBIcytoskeleton  
NDEx NetworkPLEKHH1
Atlas of Cancer Signalling NetworkPLEKHH1
Wikipedia pathwaysPLEKHH1
Orthology - Evolution
OrthoDB57475
GeneTree (enSembl)ENSG00000054690
Phylogenetic Trees/Animal Genes : TreeFamPLEKHH1
HOVERGENQ9ULM0
HOGENOMQ9ULM0
Homologs : HomoloGenePLEKHH1
Homology/Alignments : Family Browser (UCSC)PLEKHH1
Gene fusions - Rearrangements
Tumor Fusion PortalPLEKHH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHH1
dbVarPLEKHH1
ClinVarPLEKHH1
1000_GenomesPLEKHH1 
Exome Variant ServerPLEKHH1
ExAC (Exome Aggregation Consortium)ENSG00000054690
GNOMAD BrowserENSG00000054690
Genetic variants : HAPMAP57475
Genomic Variants (DGV)PLEKHH1 [DGVbeta]
DECIPHERPLEKHH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHH1 
Mutations
ICGC Data PortalPLEKHH1 
TCGA Data PortalPLEKHH1 
Broad Tumor PortalPLEKHH1
OASIS PortalPLEKHH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHH1
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 PLEKHH1
DgiDB (Drug Gene Interaction Database)PLEKHH1
DoCM (Curated mutations)PLEKHH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHH1 (select a term)
intoGenPLEKHH1
Cancer3DPLEKHH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETPLEKHH1
MedgenPLEKHH1
Genetic Testing Registry PLEKHH1
NextProtQ9ULM0 [Medical]
TSGene57475
GENETestsPLEKHH1
Target ValidationPLEKHH1
Huge Navigator PLEKHH1 [HugePedia]
snp3D : Map Gene to Disease57475
BioCentury BCIQPLEKHH1
ClinGenPLEKHH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57475
Chemical/Pharm GKB GenePA134879998
Clinical trialPLEKHH1
Miscellaneous
canSAR (ICR)PLEKHH1 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHH1
EVEXPLEKHH1
GoPubMedPLEKHH1
iHOPPLEKHH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:30:17 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.