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

PSD (pleckstrin and Sec7 domain containing)

Identity

Alias (NCBI)EFA6
EFA6A
PSD1
TYL
HGNC (Hugo) PSD
HGNC Alias symbKIAA2011
TYL
PSD1
EFA6A
EFA6
HGNC Previous namepleckstrin and Sec7 domain protein
LocusID (NCBI) 5662
Atlas_Id 41882
Location 10q24.32  [Link to chromosome band 10q24]
Location_base_pair Starts at 102402619 and ends at 102418785 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)
LAMP1 (13q34) / PSD (10q24.32)LOC389765 (9q21.33) / PSD (10q24.32)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(10;10)(q24;q24) C10orf76/PSD


External links

 

Nomenclature
HGNC (Hugo)PSD   9507
Cards
Entrez_Gene (NCBI)PSD    pleckstrin and Sec7 domain containing
AliasesEFA6; EFA6A; PSD1; TYL
GeneCards (Weizmann)PSD
Ensembl hg19 (Hinxton)ENSG00000059915 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000059915 [Gene_View]  ENSG00000059915 [Sequence]  chr10:102402619-102418785 [Contig_View]  PSD [Vega]
ICGC DataPortalENSG00000059915
TCGA cBioPortalPSD
AceView (NCBI)PSD
Genatlas (Paris)PSD
SOURCE (Princeton)PSD
Genetics Home Reference (NIH)PSD
Genomic and cartography
GoldenPath hg38 (UCSC)PSD  -     chr10:102402619-102418785 -  10q24.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PSD  -     10q24.32   [Description]    (hg19-Feb_2009)
GoldenPathPSD - 10q24.32 [CytoView hg19]  PSD - 10q24.32 [CytoView hg38]
ImmunoBaseENSG00000059915
Genome Data Viewer NCBIPSD [Mapview hg19]  
OMIM602327   
Gene and transcription
Genbank (Entrez)AB095931 AF452641 AI936992 BC037332 BC039259
RefSeq transcript (Entrez)NM_001270965 NM_001270966 NM_002779
Consensus coding sequences : CCDS (NCBI)PSD
Gene ExpressionPSD [ NCBI-GEO ]   PSD [ EBI - ARRAY_EXPRESS ]   PSD [ SEEK ]   PSD [ MEM ]
Gene Expression Viewer (FireBrowse)PSD [ Firebrowse - Broad ]
GenevisibleExpression of PSD in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5662
GTEX Portal (Tissue expression)PSD
Human Protein AtlasENSG00000059915-PSD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA5PKW4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA5PKW4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA5PKW4
PhosPhoSitePlusA5PKW4
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    SEC7 (PS50190)   
Domains : Interpro (EBI)PH-like_dom_sf    PH_9    PH_dom-spectrin-type    PH_domain    Sec7_C_sf    Sec7_dom    Sec7_dom_sf   
Domain families : Pfam (Sanger)PH_9 (PF15410)    Sec7 (PF01369)   
Domain families : Pfam (NCBI)pfam15410    pfam01369   
Domain families : Smart (EMBL)PH (SM00233)  Sec7 (SM00222)  
Conserved Domain (NCBI)PSD
SuperfamilyA5PKW4
AlphaFold pdb e-kbA5PKW4   
Human Protein Atlas [tissue]ENSG00000059915-PSD [tissue]
HPRD09085
Protein Interaction databases
DIP (DOE-UCLA)A5PKW4
IntAct (EBI)A5PKW4
BioGRIDPSD
STRING (EMBL)PSD
ZODIACPSD
Ontologies - Pathways
QuickGOA5PKW4
Ontology : AmiGOguanyl-nucleotide exchange factor activity  protein binding  phospholipid binding  signal transduction  neuron projection development  regulation of ARF protein signal transduction  cleavage furrow  ruffle membrane  dendritic spine  regulation of catalytic activity  extrinsic component of postsynaptic endosome membrane  postsynaptic density, intracellular component  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  protein binding  phospholipid binding  signal transduction  neuron projection development  regulation of ARF protein signal transduction  cleavage furrow  ruffle membrane  dendritic spine  regulation of catalytic activity  extrinsic component of postsynaptic endosome membrane  postsynaptic density, intracellular component  
Pathways : KEGGEndocytosis   
NDEx NetworkPSD
Atlas of Cancer Signalling NetworkPSD
Wikipedia pathwaysPSD
Orthology - Evolution
OrthoDB5662
GeneTree (enSembl)ENSG00000059915
Phylogenetic Trees/Animal Genes : TreeFamPSD
Homologs : HomoloGenePSD
Homology/Alignments : Family Browser (UCSC)PSD
Gene fusions - Rearrangements
Fusion : QuiverPSD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPSD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PSD
dbVarPSD
ClinVarPSD
MonarchPSD
1000_GenomesPSD 
Exome Variant ServerPSD
GNOMAD BrowserENSG00000059915
Varsome BrowserPSD
ACMGPSD variants
VarityA5PKW4
Genomic Variants (DGV)PSD [DGVbeta]
DECIPHERPSD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPSD 
Mutations
ICGC Data PortalPSD 
TCGA Data PortalPSD 
Broad Tumor PortalPSD
OASIS PortalPSD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPSD  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPSD
Mutations and Diseases : HGMDPSD
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPSD
DgiDB (Drug Gene Interaction Database)PSD
DoCM (Curated mutations)PSD
CIViC (Clinical Interpretations of Variants in Cancer)PSD
Cancer3DPSD
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602327   
Orphanet
DisGeNETPSD
MedgenPSD
Genetic Testing Registry PSD
NextProtA5PKW4 [Medical]
GENETestsPSD
Target ValidationPSD
Huge Navigator PSD [HugePedia]
ClinGenPSD
Clinical trials, drugs, therapy
MyCancerGenomePSD
Protein Interactions : CTDPSD
Pharm GKB GenePA33854
PharosA5PKW4
Clinical trialPSD
Miscellaneous
canSAR (ICR)PSD
HarmonizomePSD
DataMed IndexPSD
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPSD
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 : Mon Oct 4 15:27:08 CEST 2021

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.