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PRTFDC1 (phosphoribosyl transferase domain containing 1)

Identity

Alias_symbol (synonym)HHGP
Other alias
HGNC (Hugo) PRTFDC1
LocusID (NCBI) 56952
Atlas_Id 50014
Location 10p12.1  [Link to chromosome band 10p12]
Location_base_pair Starts at 25137536 and ends at 25241573 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SNRPE (1q32.1) / PRTFDC1 (10p12.1)UBA1 (Xp11.23) / PRTFDC1 (10p12.1)

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)PRTFDC1   23333
Cards
Entrez_Gene (NCBI)PRTFDC1  56952  phosphoribosyl transferase domain containing 1
AliasesHHGP
GeneCards (Weizmann)PRTFDC1
Ensembl hg19 (Hinxton)ENSG00000099256 [Gene_View]  chr10:25137536-25241573 [Contig_View]  PRTFDC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000099256 [Gene_View]  chr10:25137536-25241573 [Contig_View]  PRTFDC1 [Vega]
ICGC DataPortalENSG00000099256
TCGA cBioPortalPRTFDC1
AceView (NCBI)PRTFDC1
Genatlas (Paris)PRTFDC1
WikiGenes56952
SOURCE (Princeton)PRTFDC1
Genetics Home Reference (NIH)PRTFDC1
Genomic and cartography
GoldenPath hg19 (UCSC)PRTFDC1  -     chr10:25137536-25241573 -  10p12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PRTFDC1  -     10p12.1   [Description]    (hg38-Dec_2013)
EnsemblPRTFDC1 - 10p12.1 [CytoView hg19]  PRTFDC1 - 10p12.1 [CytoView hg38]
Mapping of homologs : NCBIPRTFDC1 [Mapview hg19]  PRTFDC1 [Mapview hg38]
OMIM610751   
Gene and transcription
Genbank (Entrez)AB209792 AF226056 AK021950 AK222674 AK294130
RefSeq transcript (Entrez)NM_001282786 NM_020200
RefSeq genomic (Entrez)NC_000010 NC_018921 NT_008705 NW_004929370
Consensus coding sequences : CCDS (NCBI)PRTFDC1
Cluster EST : UnigeneHs.405619 [ NCBI ]
CGAP (NCI)Hs.405619
Alternative Splicing GalleryENSG00000099256
Gene ExpressionPRTFDC1 [ NCBI-GEO ]   PRTFDC1 [ EBI - ARRAY_EXPRESS ]   PRTFDC1 [ SEEK ]   PRTFDC1 [ MEM ]
Gene Expression Viewer (FireBrowse)PRTFDC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56952
GTEX Portal (Tissue expression)PRTFDC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRG1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRG1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRG1
Splice isoforms : SwissVarQ9NRG1
PhosPhoSitePlusQ9NRG1
Domains : Interpro (EBI)Hxn_phspho_trans    PRibTrfase_dom    PRTase-like   
Domain families : Pfam (Sanger)Pribosyltran (PF00156)   
Domain families : Pfam (NCBI)pfam00156   
Conserved Domain (NCBI)PRTFDC1
DMDM Disease mutations56952
Blocks (Seattle)PRTFDC1
PDB (SRS)2JBH   
PDB (PDBSum)2JBH   
PDB (IMB)2JBH   
PDB (RSDB)2JBH   
Structural Biology KnowledgeBase2JBH   
SCOP (Structural Classification of Proteins)2JBH   
CATH (Classification of proteins structures)2JBH   
SuperfamilyQ9NRG1
Human Protein AtlasENSG00000099256
Peptide AtlasQ9NRG1
HPRD17917
IPIIPI00024644   IPI00645291   IPI00477601   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRG1
IntAct (EBI)Q9NRG1
FunCoupENSG00000099256
BioGRIDPRTFDC1
STRING (EMBL)PRTFDC1
ZODIACPRTFDC1
Ontologies - Pathways
QuickGOQ9NRG1
Ontology : AmiGOnucleotide binding  magnesium ion binding  hypoxanthine phosphoribosyltransferase activity  protein binding  cytosol  adenine salvage  guanine salvage  GMP salvage  IMP salvage  protein homodimerization activity  GMP catabolic process  hypoxanthine metabolic process  
Ontology : EGO-EBInucleotide binding  magnesium ion binding  hypoxanthine phosphoribosyltransferase activity  protein binding  cytosol  adenine salvage  guanine salvage  GMP salvage  IMP salvage  protein homodimerization activity  GMP catabolic process  hypoxanthine metabolic process  
NDEx NetworkPRTFDC1
Atlas of Cancer Signalling NetworkPRTFDC1
Wikipedia pathwaysPRTFDC1
Orthology - Evolution
OrthoDB56952
GeneTree (enSembl)ENSG00000099256
Phylogenetic Trees/Animal Genes : TreeFamPRTFDC1
HOVERGENQ9NRG1
HOGENOMQ9NRG1
Homologs : HomoloGenePRTFDC1
Homology/Alignments : Family Browser (UCSC)PRTFDC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRTFDC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRTFDC1
dbVarPRTFDC1
ClinVarPRTFDC1
1000_GenomesPRTFDC1 
Exome Variant ServerPRTFDC1
ExAC (Exome Aggregation Consortium)PRTFDC1 (select the gene name)
Genetic variants : HAPMAP56952
Genomic Variants (DGV)PRTFDC1 [DGVbeta]
DECIPHER (Syndromes)10:25137536-25241573  ENSG00000099256
CONAN: Copy Number AnalysisPRTFDC1 
Mutations
ICGC Data PortalPRTFDC1 
TCGA Data PortalPRTFDC1 
Broad Tumor PortalPRTFDC1
OASIS PortalPRTFDC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRTFDC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRTFDC1
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 PRTFDC1
DgiDB (Drug Gene Interaction Database)PRTFDC1
DoCM (Curated mutations)PRTFDC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRTFDC1 (select a term)
intoGenPRTFDC1
Cancer3DPRTFDC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610751   
Orphanet
MedgenPRTFDC1
Genetic Testing Registry PRTFDC1
NextProtQ9NRG1 [Medical]
TSGene56952
GENETestsPRTFDC1
Huge Navigator PRTFDC1 [HugePedia]
snp3D : Map Gene to Disease56952
BioCentury BCIQPRTFDC1
ClinGenPRTFDC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56952
Chemical/Pharm GKB GenePA134888009
Clinical trialPRTFDC1
Miscellaneous
canSAR (ICR)PRTFDC1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRTFDC1
EVEXPRTFDC1
GoPubMedPRTFDC1
iHOPPRTFDC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:15:54 CEST 2017

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