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PTCHD4 (patched domain containing 4)

Identity

Alias_namesC6orf138
chromosome 6 open reading frame 138
Alias_symbol (synonym)dJ402H5.2
FLJ41841
Other aliasPTCH53
HGNC (Hugo) PTCHD4
LocusID (NCBI) 442213
Atlas_Id 55084
Location 6p12.3  [Link to chromosome band 6p12]
Location_base_pair Starts at 47899609 and ends at 48068689 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)
HSP90AB1 (6p21.1) / PTCHD4 (6p12.3)PTCHD4 (6p12.3) / CD2AP (6p12.3)

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  PTCHD4/CD2AP (6p12)
t(6;6)(p12;p21) HSP90AB1/PTCHD4


External links

Nomenclature
HGNC (Hugo)PTCHD4   21345
Cards
Entrez_Gene (NCBI)PTCHD4  442213  patched domain containing 4
AliasesC6orf138; PTCH53; dJ402H5.2
GeneCards (Weizmann)PTCHD4
Ensembl hg19 (Hinxton)ENSG00000244694 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000244694 [Gene_View]  ENSG00000244694 [Sequence]  chr6:47899609-48068689 [Contig_View]  PTCHD4 [Vega]
ICGC DataPortalENSG00000244694
TCGA cBioPortalPTCHD4
AceView (NCBI)PTCHD4
Genatlas (Paris)PTCHD4
WikiGenes442213
SOURCE (Princeton)PTCHD4
Genetics Home Reference (NIH)PTCHD4
Genomic and cartography
GoldenPath hg38 (UCSC)PTCHD4  -     chr6:47899609-48068689 -  6p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTCHD4  -     6p12.3   [Description]    (hg19-Feb_2009)
EnsemblPTCHD4 - 6p12.3 [CytoView hg19]  PTCHD4 - 6p12.3 [CytoView hg38]
Mapping of homologs : NCBIPTCHD4 [Mapview hg19]  PTCHD4 [Mapview hg38]
OMIM616908   
Gene and transcription
Genbank (Entrez)AK123835 AK299301 AK300335 BC136779 BC137359
RefSeq transcript (Entrez)NM_001013732 NM_207499
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PTCHD4
Cluster EST : UnigeneHs.659409 [ NCBI ]
CGAP (NCI)Hs.659409
Alternative Splicing GalleryENSG00000244694
Gene ExpressionPTCHD4 [ NCBI-GEO ]   PTCHD4 [ EBI - ARRAY_EXPRESS ]   PTCHD4 [ SEEK ]   PTCHD4 [ MEM ]
Gene Expression Viewer (FireBrowse)PTCHD4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)442213
GTEX Portal (Tissue expression)PTCHD4
Human Protein AtlasENSG00000244694-PTCHD4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZW05   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZW05  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZW05
Splice isoforms : SwissVarQ6ZW05
PhosPhoSitePlusQ6ZW05
Domaine pattern : Prosite (Expaxy)SSD (PS50156)   
Domains : Interpro (EBI)Ptc/Disp    SSD   
Domain families : Pfam (Sanger)Patched (PF02460)   
Domain families : Pfam (NCBI)pfam02460   
Conserved Domain (NCBI)PTCHD4
DMDM Disease mutations442213
Blocks (Seattle)PTCHD4
SuperfamilyQ6ZW05
Human Protein Atlas [tissue]ENSG00000244694-PTCHD4 [tissue]
Peptide AtlasQ6ZW05
HPRD18470
IPIIPI00879247   IPI00939485   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZW05
IntAct (EBI)Q6ZW05
FunCoupENSG00000244694
BioGRIDPTCHD4
STRING (EMBL)PTCHD4
ZODIACPTCHD4
Ontologies - Pathways
QuickGOQ6ZW05
Ontology : AmiGOmolecular_function  cellular_component  biological_process  integral component of membrane  
Ontology : EGO-EBImolecular_function  cellular_component  biological_process  integral component of membrane  
NDEx NetworkPTCHD4
Atlas of Cancer Signalling NetworkPTCHD4
Wikipedia pathwaysPTCHD4
Orthology - Evolution
OrthoDB442213
GeneTree (enSembl)ENSG00000244694
Phylogenetic Trees/Animal Genes : TreeFamPTCHD4
HOVERGENQ6ZW05
HOGENOMQ6ZW05
Homologs : HomoloGenePTCHD4
Homology/Alignments : Family Browser (UCSC)PTCHD4
Gene fusions - Rearrangements
Fusion : MitelmanHSP90AB1/PTCHD4 [6p21.1/6p12.3]  [t(6;6)(p12;p21)]  
Fusion : MitelmanPTCHD4/CD2AP [6p12.3/6p12.3]  [t(6;6)(p12;p12)]  
Fusion : QuiverPTCHD4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTCHD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTCHD4
dbVarPTCHD4
ClinVarPTCHD4
1000_GenomesPTCHD4 
Exome Variant ServerPTCHD4
ExAC (Exome Aggregation Consortium)ENSG00000244694
GNOMAD BrowserENSG00000244694
Varsome BrowserPTCHD4
Genetic variants : HAPMAP442213
Genomic Variants (DGV)PTCHD4 [DGVbeta]
DECIPHERPTCHD4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTCHD4 
Mutations
ICGC Data PortalPTCHD4 
TCGA Data PortalPTCHD4 
Broad Tumor PortalPTCHD4
OASIS PortalPTCHD4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTCHD4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTCHD4
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 PTCHD4
DgiDB (Drug Gene Interaction Database)PTCHD4
DoCM (Curated mutations)PTCHD4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTCHD4 (select a term)
intoGenPTCHD4
Cancer3DPTCHD4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616908   
Orphanet
DisGeNETPTCHD4
MedgenPTCHD4
Genetic Testing Registry PTCHD4
NextProtQ6ZW05 [Medical]
TSGene442213
GENETestsPTCHD4
Target ValidationPTCHD4
Huge Navigator PTCHD4 [HugePedia]
snp3D : Map Gene to Disease442213
BioCentury BCIQPTCHD4
ClinGenPTCHD4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD442213
Chemical/Pharm GKB GenePA134982541
Clinical trialPTCHD4
Miscellaneous
canSAR (ICR)PTCHD4 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTCHD4
EVEXPTCHD4
GoPubMedPTCHD4
iHOPPTCHD4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:33:07 CET 2018

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