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PTCD1 (pentatricopeptide repeat domain 1)

Identity

Alias_symbol (synonym)KIAA0632
Other alias-
HGNC (Hugo) PTCD1
LocusID (NCBI) 26024
Atlas_Id 72366
Location 7q22.1  [Link to chromosome band 7q22]
Location_base_pair Starts at 99416739 and ends at 99438839 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DDR1 (6p21.33) / PTCD1 (7q22.1)

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)PTCD1   22198
Cards
Entrez_Gene (NCBI)PTCD1  26024  pentatricopeptide repeat domain 1
Aliases
GeneCards (Weizmann)PTCD1
Ensembl hg19 (Hinxton)ENSG00000106246 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106246 [Gene_View]  chr7:99416739-99438839 [Contig_View]  PTCD1 [Vega]
ICGC DataPortalENSG00000106246
TCGA cBioPortalPTCD1
AceView (NCBI)PTCD1
Genatlas (Paris)PTCD1
WikiGenes26024
SOURCE (Princeton)PTCD1
Genetics Home Reference (NIH)PTCD1
Genomic and cartography
GoldenPath hg38 (UCSC)PTCD1  -     chr7:99416739-99438839 -  7q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTCD1  -     7q22.1   [Description]    (hg19-Feb_2009)
EnsemblPTCD1 - 7q22.1 [CytoView hg19]  PTCD1 - 7q22.1 [CytoView hg38]
Mapping of homologs : NCBIPTCD1 [Mapview hg19]  PTCD1 [Mapview hg38]
OMIM614774   
Gene and transcription
Genbank (Entrez)AB014532 AB073644 AK001615 AK291004 BC003688
RefSeq transcript (Entrez)NM_015545
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PTCD1
Cluster EST : UnigeneHs.729925 [ NCBI ]
CGAP (NCI)Hs.729925
Alternative Splicing GalleryENSG00000106246
Gene ExpressionPTCD1 [ NCBI-GEO ]   PTCD1 [ EBI - ARRAY_EXPRESS ]   PTCD1 [ SEEK ]   PTCD1 [ MEM ]
Gene Expression Viewer (FireBrowse)PTCD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26024
GTEX Portal (Tissue expression)PTCD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75127   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75127  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75127
Splice isoforms : SwissVarO75127
PhosPhoSitePlusO75127
Domaine pattern : Prosite (Expaxy)PPR (PS51375)   
Domains : Interpro (EBI)Pentatricopeptide_repeat    PPR_long   
Domain families : Pfam (Sanger)PPR_3 (PF13812)    PPR_long (PF17177)   
Domain families : Pfam (NCBI)pfam13812    pfam17177   
Conserved Domain (NCBI)PTCD1
DMDM Disease mutations26024
Blocks (Seattle)PTCD1
SuperfamilyO75127
Human Protein AtlasENSG00000106246
Peptide AtlasO75127
HPRD11463
IPIIPI00171925   IPI00903059   IPI01013759   IPI00925961   IPI00926303   IPI00927106   IPI00940545   IPI00926491   
Protein Interaction databases
DIP (DOE-UCLA)O75127
IntAct (EBI)O75127
FunCoupENSG00000106246
BioGRIDPTCD1
STRING (EMBL)PTCD1
ZODIACPTCD1
Ontologies - Pathways
QuickGOO75127
Ontology : AmiGOtRNA binding  RNA binding  mitochondrion  mitochondrial matrix  tRNA 3'-end processing  
Ontology : EGO-EBItRNA binding  RNA binding  mitochondrion  mitochondrial matrix  tRNA 3'-end processing  
NDEx NetworkPTCD1
Atlas of Cancer Signalling NetworkPTCD1
Wikipedia pathwaysPTCD1
Orthology - Evolution
OrthoDB26024
GeneTree (enSembl)ENSG00000106246
Phylogenetic Trees/Animal Genes : TreeFamPTCD1
HOVERGENO75127
HOGENOMO75127
Homologs : HomoloGenePTCD1
Homology/Alignments : Family Browser (UCSC)PTCD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTCD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTCD1
dbVarPTCD1
ClinVarPTCD1
1000_GenomesPTCD1 
Exome Variant ServerPTCD1
ExAC (Exome Aggregation Consortium)PTCD1 (select the gene name)
Genetic variants : HAPMAP26024
Genomic Variants (DGV)PTCD1 [DGVbeta]
DECIPHERPTCD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTCD1 
Mutations
ICGC Data PortalPTCD1 
TCGA Data PortalPTCD1 
Broad Tumor PortalPTCD1
OASIS PortalPTCD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTCD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTCD1
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 PTCD1
DgiDB (Drug Gene Interaction Database)PTCD1
DoCM (Curated mutations)PTCD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTCD1 (select a term)
intoGenPTCD1
Cancer3DPTCD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614774   
Orphanet
MedgenPTCD1
Genetic Testing Registry PTCD1
NextProtO75127 [Medical]
TSGene26024
GENETestsPTCD1
Target ValidationPTCD1
Huge Navigator PTCD1 [HugePedia]
snp3D : Map Gene to Disease26024
BioCentury BCIQPTCD1
ClinGenPTCD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26024
Chemical/Pharm GKB GenePA134877986
Clinical trialPTCD1
Miscellaneous
canSAR (ICR)PTCD1 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTCD1
EVEXPTCD1
GoPubMedPTCD1
iHOPPTCD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:37:48 CEST 2017

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