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PDZD7 (PDZ domain containing 7)

Identity

Alias (NCBI)DFNB57
PDZK7
HGNC (Hugo) PDZD7
HGNC Alias symbFLJ23209
bA108L7.8
HGNC Previous namePDZK7
LocusID (NCBI) 79955
Atlas_Id 71817
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 101017332 and ends at 101031157 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)
PDZD7 (10q24.31) / ETV6 (12p13.2)RUNX1 (21q22.12) / PDZD7 (10q24.31)

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) [ 4 ]
  t(10;12)(q24;p13) PDZD7/ETV6
t(10;21)(q24;q22) RUNX1/PDZD7
t(10;12)(q24;p13) PDZD7/ETV6
t(10;21)(q24;q22) RUNX1/PDZD7


External links

 

Nomenclature
HGNC (Hugo)PDZD7   26257
Cards
Entrez_Gene (NCBI)PDZD7    PDZ domain containing 7
AliasesDFNB57; PDZK7
GeneCards (Weizmann)PDZD7
Ensembl hg19 (Hinxton)ENSG00000186862 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186862 [Gene_View]  ENSG00000186862 [Sequence]  chr10:101017332-101031157 [Contig_View]  PDZD7 [Vega]
ICGC DataPortalENSG00000186862
TCGA cBioPortalPDZD7
AceView (NCBI)PDZD7
Genatlas (Paris)PDZD7
SOURCE (Princeton)PDZD7
Genetics Home Reference (NIH)PDZD7
Genomic and cartography
GoldenPath hg38 (UCSC)PDZD7  -     chr10:101017332-101031157 -  10q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDZD7  -     10q24.31   [Description]    (hg19-Feb_2009)
GoldenPathPDZD7 - 10q24.31 [CytoView hg19]  PDZD7 - 10q24.31 [CytoView hg38]
ImmunoBaseENSG00000186862
Genome Data Viewer NCBIPDZD7 [Mapview hg19]  
OMIM276901   605472   612971   618003   
Gene and transcription
Genbank (Entrez)AK024422 AK026862 AK225136 AW058493 BC029054
RefSeq transcript (Entrez)NM_001195263 NM_001351044 NM_024895
Consensus coding sequences : CCDS (NCBI)PDZD7
Gene ExpressionPDZD7 [ NCBI-GEO ]   PDZD7 [ EBI - ARRAY_EXPRESS ]   PDZD7 [ SEEK ]   PDZD7 [ MEM ]
Gene Expression Viewer (FireBrowse)PDZD7 [ Firebrowse - Broad ]
GenevisibleExpression of PDZD7 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79955
GTEX Portal (Tissue expression)PDZD7
Human Protein AtlasENSG00000186862-PDZD7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H5P4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H5P4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H5P4
PhosPhoSitePlusQ9H5P4
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)PDZ    PDZ_sf    PDZD7_HN-like   
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
Conserved Domain (NCBI)PDZD7
PDB (RSDB)2EEH   
PDB Europe2EEH   
PDB (PDBSum)2EEH   
PDB (IMB)2EEH   
Structural Biology KnowledgeBase2EEH   
SCOP (Structural Classification of Proteins)2EEH   
CATH (Classification of proteins structures)2EEH   
SuperfamilyQ9H5P4
AlphaFold pdb e-kbQ9H5P4   
Human Protein Atlas [tissue]ENSG00000186862-PDZD7 [tissue]
HPRD15114
Protein Interaction databases
DIP (DOE-UCLA)Q9H5P4
IntAct (EBI)Q9H5P4
BioGRIDPDZD7
STRING (EMBL)PDZD7
ZODIACPDZD7
Ontologies - Pathways
QuickGOQ9H5P4
Ontology : AmiGOphotoreceptor inner segment  stereocilia ankle link  stereocilia ankle link complex  stereocilia ankle link complex  protein binding  extracellular space  nucleus  nucleoplasm  plasma membrane  cilium  sensory perception of sound  photoreceptor connecting cilium  stereocilium  stereocilium tip  identical protein binding  establishment of protein localization  detection of mechanical stimulus involved in sensory perception of sound  auditory receptor cell stereocilium organization  auditory receptor cell stereocilium organization  auditory receptor cell development  USH2 complex  
Ontology : EGO-EBIphotoreceptor inner segment  stereocilia ankle link  stereocilia ankle link complex  stereocilia ankle link complex  protein binding  extracellular space  nucleus  nucleoplasm  plasma membrane  cilium  sensory perception of sound  photoreceptor connecting cilium  stereocilium  stereocilium tip  identical protein binding  establishment of protein localization  detection of mechanical stimulus involved in sensory perception of sound  auditory receptor cell stereocilium organization  auditory receptor cell stereocilium organization  auditory receptor cell development  USH2 complex  
NDEx NetworkPDZD7
Atlas of Cancer Signalling NetworkPDZD7
Wikipedia pathwaysPDZD7
Orthology - Evolution
OrthoDB79955
GeneTree (enSembl)ENSG00000186862
Phylogenetic Trees/Animal Genes : TreeFamPDZD7
Homologs : HomoloGenePDZD7
Homology/Alignments : Family Browser (UCSC)PDZD7
Gene fusions - Rearrangements
Fusion : QuiverPDZD7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDZD7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDZD7
dbVarPDZD7
ClinVarPDZD7
MonarchPDZD7
1000_GenomesPDZD7 
Exome Variant ServerPDZD7
GNOMAD BrowserENSG00000186862
Varsome BrowserPDZD7
ACMGPDZD7 variants
VarityQ9H5P4
Genomic Variants (DGV)PDZD7 [DGVbeta]
DECIPHERPDZD7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDZD7 
Mutations
ICGC Data PortalPDZD7 
TCGA Data PortalPDZD7 
Broad Tumor PortalPDZD7
OASIS PortalPDZD7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDZD7  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPDZD7
Mutations and Diseases : HGMDPDZD7
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPDZD7
DgiDB (Drug Gene Interaction Database)PDZD7
DoCM (Curated mutations)PDZD7
CIViC (Clinical Interpretations of Variants in Cancer)PDZD7
Cancer3DPDZD7
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM276901    605472    612971    618003   
Orphanet19168   
DisGeNETPDZD7
MedgenPDZD7
Genetic Testing Registry PDZD7
NextProtQ9H5P4 [Medical]
GENETestsPDZD7
Target ValidationPDZD7
Huge Navigator PDZD7 [HugePedia]
ClinGenPDZD7
Clinical trials, drugs, therapy
MyCancerGenomePDZD7
Protein Interactions : CTDPDZD7
Pharm GKB GenePA142671189
PharosQ9H5P4
Clinical trialPDZD7
Miscellaneous
canSAR (ICR)PDZD7
HarmonizomePDZD7
DataMed IndexPDZD7
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPDZD7
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 16:15:51 CEST 2021

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