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PTCHD1 (patched domain containing 1)

Identity

Alias_symbol (synonym)FLJ30296
Other alias-
HGNC (Hugo) PTCHD1
LocusID (NCBI) 139411
Atlas_Id 72368
Location Xp22.11  [Link to chromosome band Xp22]
Location_base_pair Starts at 23352985 and ends at 23414918 bp from pter ( according to hg19-Feb_2009)

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)PTCHD1   26392
Cards
Entrez_Gene (NCBI)PTCHD1  139411  patched domain containing 1
Aliases
GeneCards (Weizmann)PTCHD1
Ensembl hg19 (Hinxton) [Gene_View]  chrX:23352985-23414918 [Contig_View]  PTCHD1 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chrX:23352985-23414918 [Contig_View]  PTCHD1 [Vega]
TCGA cBioPortalPTCHD1
AceView (NCBI)PTCHD1
Genatlas (Paris)PTCHD1
WikiGenes139411
SOURCE (Princeton)PTCHD1
Genetics Home Reference (NIH)PTCHD1
Genomic and cartography
GoldenPath hg19 (UCSC)PTCHD1  -     chrX:23352985-23414918 +  Xp22.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PTCHD1  -     Xp22.11   [Description]    (hg38-Dec_2013)
EnsemblPTCHD1 - Xp22.11 [CytoView hg19]  PTCHD1 - Xp22.11 [CytoView hg38]
Mapping of homologs : NCBIPTCHD1 [Mapview hg19]  PTCHD1 [Mapview hg38]
OMIM300828   
Gene and transcription
Genbank (Entrez)AK054858 AK298796 BC062344 BC121061 BX107899
RefSeq transcript (Entrez)NM_173495
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_021300 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)PTCHD1
Cluster EST : UnigeneHs.319503 [ NCBI ]
CGAP (NCI)Hs.319503
Gene ExpressionPTCHD1 [ NCBI-GEO ]   PTCHD1 [ EBI - ARRAY_EXPRESS ]   PTCHD1 [ SEEK ]   PTCHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)PTCHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)139411
GTEX Portal (Tissue expression)PTCHD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96NR3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96NR3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96NR3
Splice isoforms : SwissVarQ96NR3
PhosPhoSitePlusQ96NR3
Domaine pattern : Prosite (Expaxy)SSD (PS50156)   
Domains : Interpro (EBI)Patched    SSD   
Domain families : Pfam (Sanger)Patched (PF02460)   
Domain families : Pfam (NCBI)pfam02460   
Conserved Domain (NCBI)PTCHD1
DMDM Disease mutations139411
Blocks (Seattle)PTCHD1
SuperfamilyQ96NR3
Peptide AtlasQ96NR3
HPRD06548
IPIIPI00046790   IPI00829962   IPI00830017   IPI00880138   
Protein Interaction databases
DIP (DOE-UCLA)Q96NR3
IntAct (EBI)Q96NR3
BioGRIDPTCHD1
STRING (EMBL)PTCHD1
ZODIACPTCHD1
Ontologies - Pathways
QuickGOQ96NR3
Ontology : AmiGOmolecular_function  plasma membrane  smoothened signaling pathway  hedgehog receptor activity  integral component of membrane  cognition  
Ontology : EGO-EBImolecular_function  plasma membrane  smoothened signaling pathway  hedgehog receptor activity  integral component of membrane  cognition  
NDEx NetworkPTCHD1
Atlas of Cancer Signalling NetworkPTCHD1
Wikipedia pathwaysPTCHD1
Orthology - Evolution
OrthoDB139411
Phylogenetic Trees/Animal Genes : TreeFamPTCHD1
HOVERGENQ96NR3
HOGENOMQ96NR3
Homologs : HomoloGenePTCHD1
Homology/Alignments : Family Browser (UCSC)PTCHD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTCHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTCHD1
dbVarPTCHD1
ClinVarPTCHD1
1000_GenomesPTCHD1 
Exome Variant ServerPTCHD1
ExAC (Exome Aggregation Consortium)PTCHD1 (select the gene name)
Genetic variants : HAPMAP139411
Genomic Variants (DGV)PTCHD1 [DGVbeta]
DECIPHER (Syndromes)X:23352985-23414918  
CONAN: Copy Number AnalysisPTCHD1 
Mutations
ICGC Data PortalPTCHD1 
TCGA Data PortalPTCHD1 
Broad Tumor PortalPTCHD1
OASIS PortalPTCHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTCHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTCHD1
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)X-chromosome gene database
BioMutasearch PTCHD1
DgiDB (Drug Gene Interaction Database)PTCHD1
DoCM (Curated mutations)PTCHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTCHD1 (select a term)
intoGenPTCHD1
Cancer3DPTCHD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300828   
Orphanet3256   
MedgenPTCHD1
Genetic Testing Registry PTCHD1
NextProtQ96NR3 [Medical]
TSGene139411
GENETestsPTCHD1
Huge Navigator PTCHD1 [HugePedia]
snp3D : Map Gene to Disease139411
BioCentury BCIQPTCHD1
ClinGenPTCHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD139411
Chemical/Pharm GKB GenePA134942420
Clinical trialPTCHD1
Miscellaneous
canSAR (ICR)PTCHD1 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTCHD1
EVEXPTCHD1
GoPubMedPTCHD1
iHOPPTCHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:40:08 CET 2017

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