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PDZD7 (PDZ domain containing 7)

Identity

Alias_namesPDZK7
Alias_symbol (synonym)FLJ23209
bA108L7.8
Other aliasDFNB57
HGNC (Hugo) PDZD7
LocusID (NCBI) 79955
Atlas_Id 71817
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 101007683 and ends at 101031157 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		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

 

External links

Nomenclature
HGNC (Hugo)PDZD7   26257
Cards
Entrez_Gene (NCBI)PDZD7  79955  PDZ domain containing 7
AliasesDFNB57; PDZK7
GeneCards (Weizmann)PDZD7
Ensembl hg19 (Hinxton)ENSG00000186862 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186862 [Gene_View]  chr10:101007683-101031157 [Contig_View]  PDZD7 [Vega]
ICGC DataPortalENSG00000186862
TCGA cBioPortalPDZD7
AceView (NCBI)PDZD7
Genatlas (Paris)PDZD7
WikiGenes79955
SOURCE (Princeton)PDZD7
Genetics Home Reference (NIH)PDZD7
Genomic and cartography
GoldenPath hg38 (UCSC)PDZD7  -     chr10:101007683-101031157 -  10q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDZD7  -     10q24.31   [Description]    (hg19-Feb_2009)
EnsemblPDZD7 - 10q24.31 [CytoView hg19]  PDZD7 - 10q24.31 [CytoView hg38]
Mapping of homologs : NCBIPDZD7 [Mapview hg19]  PDZD7 [Mapview hg38]
OMIM276901   605472   612971   
Gene and transcription
Genbank (Entrez)AK024422 AK026862 AK225136 AW058493 BC029054
RefSeq transcript (Entrez)NM_001195263 NM_001351044 NM_024895
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDZD7
Cluster EST : UnigeneHs.438245 [ NCBI ]
CGAP (NCI)Hs.438245
Alternative Splicing GalleryENSG00000186862
Gene ExpressionPDZD7 [ NCBI-GEO ]   PDZD7 [ EBI - ARRAY_EXPRESS ]   PDZD7 [ SEEK ]   PDZD7 [ MEM ]
Gene Expression Viewer (FireBrowse)PDZD7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79955
GTEX Portal (Tissue expression)PDZD7
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
Splice isoforms : SwissVarQ9H5P4
PhosPhoSitePlusQ9H5P4
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)PDZ   
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
Conserved Domain (NCBI)PDZD7
DMDM Disease mutations79955
Blocks (Seattle)PDZD7
PDB (SRS)2EEH   
PDB (PDBSum)2EEH   
PDB (IMB)2EEH   
PDB (RSDB)2EEH   
Structural Biology KnowledgeBase2EEH   
SCOP (Structural Classification of Proteins)2EEH   
CATH (Classification of proteins structures)2EEH   
SuperfamilyQ9H5P4
Human Protein AtlasENSG00000186862
Peptide AtlasQ9H5P4
HPRD15114
IPIIPI00016495   IPI00646578   IPI00971069   IPI00888928   
Protein Interaction databases
DIP (DOE-UCLA)Q9H5P4
IntAct (EBI)Q9H5P4
FunCoupENSG00000186862
BioGRIDPDZD7
STRING (EMBL)PDZD7
ZODIACPDZD7
Ontologies - Pathways
QuickGOQ9H5P4
Ontology : AmiGOstereocilia ankle link  protein binding  extracellular space  nucleus  cilium  protein homodimerization activity  establishment of protein localization  protein heterodimerization activity  detection of mechanical stimulus involved in sensory perception of sound  auditory receptor cell stereocilium organization  USH2 complex  
Ontology : EGO-EBIstereocilia ankle link  protein binding  extracellular space  nucleus  cilium  protein homodimerization activity  establishment of protein localization  protein heterodimerization activity  detection of mechanical stimulus involved in sensory perception of sound  auditory receptor cell stereocilium organization  USH2 complex  
NDEx NetworkPDZD7
Atlas of Cancer Signalling NetworkPDZD7
Wikipedia pathwaysPDZD7
Orthology - Evolution
OrthoDB79955
GeneTree (enSembl)ENSG00000186862
Phylogenetic Trees/Animal Genes : TreeFamPDZD7
HOVERGENQ9H5P4
HOGENOMQ9H5P4
Homologs : HomoloGenePDZD7
Homology/Alignments : Family Browser (UCSC)PDZD7
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDZD7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDZD7
dbVarPDZD7
ClinVarPDZD7
1000_GenomesPDZD7 
Exome Variant ServerPDZD7
ExAC (Exome Aggregation Consortium)PDZD7 (select the gene name)
Genetic variants : HAPMAP79955
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]  
Mutations and Diseases : HGMDPDZD7
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
LOVD (Leiden Open Variation Database)Retinal and hearing impairment genetic mutation database
BioMutasearch PDZD7
DgiDB (Drug Gene Interaction Database)PDZD7
DoCM (Curated mutations)PDZD7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDZD7 (select a term)
intoGenPDZD7
Cancer3DPDZD7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM276901    605472    612971   
Orphanet19168   
MedgenPDZD7
Genetic Testing Registry PDZD7
NextProtQ9H5P4 [Medical]
TSGene79955
GENETestsPDZD7
Target ValidationPDZD7
Huge Navigator PDZD7 [HugePedia]
snp3D : Map Gene to Disease79955
BioCentury BCIQPDZD7
ClinGenPDZD7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79955
Chemical/Pharm GKB GenePA142671189
Clinical trialPDZD7
Miscellaneous
canSAR (ICR)PDZD7 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDZD7
EVEXPDZD7
GoPubMedPDZD7
iHOPPDZD7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:34:17 CEST 2017
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