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PTCHD3 (patched domain containing 3)

Identity

Alias (NCBI)PTR
HGNC (Hugo) PTCHD3
HGNC Alias symbFLJ44037
PTR
LocusID (NCBI) 374308
Atlas_Id 72371
Location 10p12.1  [Link to chromosome band 10p12]
Location_base_pair Starts at 27398188 and ends at 27414368 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)

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)PTCHD3   24776
Cards
Entrez_Gene (NCBI)PTCHD3    patched domain containing 3
AliasesPTR
GeneCards (Weizmann)PTCHD3
Ensembl hg19 (Hinxton)ENSG00000182077 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182077 [Gene_View]  ENSG00000182077 [Sequence]  chr10:27398188-27414368 [Contig_View]  PTCHD3 [Vega]
ICGC DataPortalENSG00000182077
TCGA cBioPortalPTCHD3
AceView (NCBI)PTCHD3
Genatlas (Paris)PTCHD3
SOURCE (Princeton)PTCHD3
Genetics Home Reference (NIH)PTCHD3
Genomic and cartography
GoldenPath hg38 (UCSC)PTCHD3  -     chr10:27398188-27414368 -  10p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTCHD3  -     10p12.1   [Description]    (hg19-Feb_2009)
GoldenPathPTCHD3 - 10p12.1 [CytoView hg19]  PTCHD3 - 10p12.1 [CytoView hg38]
ImmunoBaseENSG00000182077
Genome Data Viewer NCBIPTCHD3 [Mapview hg19]  
OMIM611791   
Gene and transcription
Genbank (Entrez)AK126025 BC107139 DB509520 JF332167
RefSeq transcript (Entrez)NM_001034842
Consensus coding sequences : CCDS (NCBI)PTCHD3
Gene ExpressionPTCHD3 [ NCBI-GEO ]   PTCHD3 [ EBI - ARRAY_EXPRESS ]   PTCHD3 [ SEEK ]   PTCHD3 [ MEM ]
Gene Expression Viewer (FireBrowse)PTCHD3 [ Firebrowse - Broad ]
GenevisibleExpression of PTCHD3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)374308
GTEX Portal (Tissue expression)PTCHD3
Human Protein AtlasENSG00000182077-PTCHD3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ3KNS1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ3KNS1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ3KNS1
PhosPhoSitePlusQ3KNS1
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)PTCHD3
SuperfamilyQ3KNS1
AlphaFold pdb e-kbQ3KNS1   
Human Protein Atlas [tissue]ENSG00000182077-PTCHD3 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q3KNS1
IntAct (EBI)Q3KNS1
BioGRIDPTCHD3
STRING (EMBL)PTCHD3
ZODIACPTCHD3
Ontologies - Pathways
QuickGOQ3KNS1
Ontology : AmiGOmolecular_function  protein binding  cellular_component  spermatid development  membrane  integral component of membrane  
Ontology : EGO-EBImolecular_function  protein binding  cellular_component  spermatid development  membrane  integral component of membrane  
NDEx NetworkPTCHD3
Atlas of Cancer Signalling NetworkPTCHD3
Wikipedia pathwaysPTCHD3
Orthology - Evolution
OrthoDB374308
GeneTree (enSembl)ENSG00000182077
Phylogenetic Trees/Animal Genes : TreeFamPTCHD3
Homologs : HomoloGenePTCHD3
Homology/Alignments : Family Browser (UCSC)PTCHD3
Gene fusions - Rearrangements
Fusion : QuiverPTCHD3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTCHD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTCHD3
dbVarPTCHD3
ClinVarPTCHD3
MonarchPTCHD3
1000_GenomesPTCHD3 
Exome Variant ServerPTCHD3
GNOMAD BrowserENSG00000182077
Varsome BrowserPTCHD3
ACMGPTCHD3 variants
VarityQ3KNS1
Genomic Variants (DGV)PTCHD3 [DGVbeta]
DECIPHERPTCHD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTCHD3 
Mutations
ICGC Data PortalPTCHD3 
TCGA Data PortalPTCHD3 
Broad Tumor PortalPTCHD3
OASIS PortalPTCHD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTCHD3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPTCHD3
Mutations and Diseases : HGMDPTCHD3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPTCHD3
DgiDB (Drug Gene Interaction Database)PTCHD3
DoCM (Curated mutations)PTCHD3
CIViC (Clinical Interpretations of Variants in Cancer)PTCHD3
Cancer3DPTCHD3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611791   
Orphanet
DisGeNETPTCHD3
MedgenPTCHD3
Genetic Testing Registry PTCHD3
NextProtQ3KNS1 [Medical]
GENETestsPTCHD3
Target ValidationPTCHD3
Huge Navigator PTCHD3 [HugePedia]
ClinGenPTCHD3
Clinical trials, drugs, therapy
MyCancerGenomePTCHD3
Protein Interactions : CTDPTCHD3
Pharm GKB GenePA142671117
PharosQ3KNS1
Clinical trialPTCHD3
Miscellaneous
canSAR (ICR)PTCHD3
HarmonizomePTCHD3
DataMed IndexPTCHD3
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPTCHD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 16:17:35 CEST 2021

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