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PRCC (papillary renal cell carcinoma)

Written1999-01François Desangles, Jean-Loup Huret
Laboratoire de Biologie, Hopital du Val de Grace, 75230 Paris, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namespapillary renal cell carcinoma (translocation-associated)
Alias_symbol (synonym)RCCP1
Other aliasRCCP1 (renal cell carcinoma, papillary, 1)
HGNC (Hugo) PRCC
LocusID (NCBI) 5546
Atlas_Id 69
Location 1q23.1  [Link to chromosome band 1q23]
Location_base_pair Starts at 156767482 and ends at 156800817 bp from pter ( according to hg19-Feb_2009)  [Mapping PRCC.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARHGAP6 (Xp22.2) / PRCC (1q23.1)EFHC1 (6p12.2) / PRCC (1q23.1)MAD2L2 (1p36.22) / PRCC (1q23.1)
PRCC (1q23.1) / HAPLN2 (1q23.1)PRCC (1q23.1) / TFE3 (Xp11.23)PRCC (1q23.1) / TMED5 (1p22.1)
SF3B2 (11q13.1) / PRCC (1q23.1)TFE3 (Xp11.23) / PRCC (1q23.1)YY1AP1 (1q22) / PRCC (1q23.1)

DNA/RNA

Description cDNA of 2039 bp
Transcription 1989 bp RNA; coding sequence: CDS 191...1666

Protein

Description 491 amino acids; 52 kDa; proline/leucine/glycine rich domain of 150 amino acids in N-term
Expression wide; in the fetus and in the adult
Homology none is known

Implicated in

Note
  
Entity t(X;1)(p11.2;q21.2) in renal cell carcinoma --> PRCC /< CC: TXT: TFE3 ID: 86 >
Disease t(X;1) is a very rare subtype of papillary renal cell carcinoma
Prognosis overall 5-yr survival rate around 85%
Hybrid/Mutated Gene 5' PRCC- 3' TFE3; variable breakpoint in PRCC; breakpoint in the 1st intron of TFE3
 
Abnormal Protein N-term PRCC with the proline rich sequence fused to most of TFE3, including the ; the reciprocal TFE3-PRCC is expressed; it is to be noted that the normal TFE3 transcript is lost in female patients.
  

Bibliography

The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene.
Sidhar SK, Clark J, Gill S, Hamoudi R, Crew AJ, Gwilliam R, Ross M, Linehan WM, Birdsall S, Shipley J, Cooper CS
Human molecular genetics. 1996 ; 5 (9) : 1333-1338.
PMID 8872474
 
Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.
Weterman MA, Wilbrink M, Geurts van Kessel A
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (26) : 15294-15298.
PMID 8986805
 

Citation

This paper should be referenced as such :
Desangles, F ; Huret, JL
PRCC (papillary renal cell carcinoma)
Atlas Genet Cytogenet Oncol Haematol. 1999;3(2):56-56.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/PRCCID69.html

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  Kidney: Papillary renal cell carcinoma
Kidney: Renal cell carcinomas with MiT family translocation
t(1;1)(p22;q23) PRCC/TMED5
PRCC/HAPLN2 (1q23)
Kidney: Renal cell carcinoma with t(X;1)(p11;q21) PRCC/TFE3

External links

Nomenclature
HGNC (Hugo)PRCC   9343
Cards
AtlasPRCCID69
Entrez_Gene (NCBI)PRCC  5546  proline rich mitotic checkpoint control factor
AliasesRCCP1; TPRC
GeneCards (Weizmann)PRCC
Ensembl hg19 (Hinxton)ENSG00000143294 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143294 [Gene_View]  ENSG00000143294 [Sequence]  chr1:156767482-156800817 [Contig_View]  PRCC [Vega]
ICGC DataPortalENSG00000143294
TCGA cBioPortalPRCC
AceView (NCBI)PRCC
Genatlas (Paris)PRCC
WikiGenes5546
SOURCE (Princeton)PRCC
Genetics Home Reference (NIH)PRCC
Genomic and cartography
GoldenPath hg38 (UCSC)PRCC  -     chr1:156767482-156800817 +  1q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRCC  -     1q23.1   [Description]    (hg19-Feb_2009)
GoldenPathPRCC - 1q23.1 [CytoView hg19]  PRCC - 1q23.1 [CytoView hg38]
ImmunoBaseENSG00000143294
Mapping of homologs : NCBIPRCC [Mapview hg19]  PRCC [Mapview hg38]
OMIM179755   605074   
Gene and transcription
Genbank (Entrez)AA846273 AK126403 AK289872 BC004913 BC010450
RefSeq transcript (Entrez)NM_005973 NM_199416
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRCC
Cluster EST : UnigeneHs.516948 [ NCBI ]
CGAP (NCI)Hs.516948
Alternative Splicing GalleryENSG00000143294
Gene ExpressionPRCC [ NCBI-GEO ]   PRCC [ EBI - ARRAY_EXPRESS ]   PRCC [ SEEK ]   PRCC [ MEM ]
Gene Expression Viewer (FireBrowse)PRCC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5546
GTEX Portal (Tissue expression)PRCC
Human Protein AtlasENSG00000143294-PRCC [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92733   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92733  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92733
Splice isoforms : SwissVarQ92733
PhosPhoSitePlusQ92733
Domains : Interpro (EBI)PRCC   
Domain families : Pfam (Sanger)PRCC (PF10253)   
Domain families : Pfam (NCBI)pfam10253   
Conserved Domain (NCBI)PRCC
DMDM Disease mutations5546
Blocks (Seattle)PRCC
SuperfamilyQ92733
Human Protein Atlas [tissue]ENSG00000143294-PRCC [tissue]
Peptide AtlasQ92733
HPRD01562
IPIIPI00294618   IPI00399306   IPI00514697   
Protein Interaction databases
DIP (DOE-UCLA)Q92733
IntAct (EBI)Q92733
FunCoupENSG00000143294
BioGRIDPRCC
STRING (EMBL)PRCC
ZODIACPRCC
Ontologies - Pathways
QuickGOQ92733
Ontology : AmiGOmRNA splicing, via spliceosome  protein binding  nucleus  nucleoplasm  mitotic cell cycle checkpoint  nuclear speck  
Ontology : EGO-EBImRNA splicing, via spliceosome  protein binding  nucleus  nucleoplasm  mitotic cell cycle checkpoint  nuclear speck  
Pathways : KEGGTranscriptional misregulation in cancer   
REACTOMEQ92733 [protein]
REACTOME PathwaysR-HSA-72163 [pathway]   
NDEx NetworkPRCC
Atlas of Cancer Signalling NetworkPRCC
Wikipedia pathwaysPRCC
Orthology - Evolution
OrthoDB5546
GeneTree (enSembl)ENSG00000143294
Phylogenetic Trees/Animal Genes : TreeFamPRCC
HOGENOMQ92733
Homologs : HomoloGenePRCC
Homology/Alignments : Family Browser (UCSC)PRCC
Gene fusions - Rearrangements
Fusion : MitelmanPRCC/HAPLN2 [1q23.1/1q23.1]  
Fusion : MitelmanPRCC/TFE3 [1q23.1/Xp11.23]  [t(X;1)(p11;q23)]  
Fusion : MitelmanPRCC/TMED5 [1q23.1/1p22.1]  [t(1;1)(p22;q23)]  
Fusion : COSMICTFE3 [Xp11.23]  -  PRCC [1q23.1]  [fusion_839]  
Fusion PortalPRCC 1q23.1 HAPLN2 1q23.1 BRCA
Fusion PortalPRCC 1q23.1 TMED5 1p22.1 THCA
Fusion : TICdbARHGAP6 [Xp22.2]  -  PRCC [1q23.1]
Fusion : FusionGDB11045    28581    28582    28583    28584    28585    28586    33453    37833    42436    42506   
Fusion : Fusion_HubARHGAP6--PRCC    ASPSCR1--PRCC    DIS3L2--PRCC    EFHC1--PRCC    GMNN--PRCC    ITPKC--PRCC    PRCC--BTF3L4    PRCC--C8ORF80    PRCC--HAPLN2    PRCC--MAD2B    PRCC--MITF    PRCC--MPTX1    PRCC--NTRK1    PRCC--OMA1    PRCC--RHBG   
PRCC--RRNAD1    PRCC--TFE3    PRCC--TMED5    SF3B2--PRCC    TFE3--PRCC    UBE2G2--PRCC    YY1AP1--PRCC    ZBTB40--PRCC   
Fusion : QuiverPRCC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRCC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRCC
dbVarPRCC
ClinVarPRCC
1000_GenomesPRCC 
Exome Variant ServerPRCC
ExAC (Exome Aggregation Consortium)ENSG00000143294
GNOMAD BrowserENSG00000143294
Varsome BrowserPRCC
Genetic variants : HAPMAP5546
Genomic Variants (DGV)PRCC [DGVbeta]
DECIPHERPRCC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRCC 
Mutations
ICGC Data PortalPRCC 
TCGA Data PortalPRCC 
Broad Tumor PortalPRCC
OASIS PortalPRCC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRCC  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPRCC
Mutations and Diseases : HGMDPRCC
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 PRCC
DgiDB (Drug Gene Interaction Database)PRCC
DoCM (Curated mutations)PRCC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRCC (select a term)
intoGenPRCC
NCG5 (London)PRCC
Cancer3DPRCC(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM179755    605074   
Orphanet21643   
DisGeNETPRCC
MedgenPRCC
Genetic Testing Registry PRCC
NextProtQ92733 [Medical]
TSGene5546
GENETestsPRCC
Target ValidationPRCC
Huge Navigator PRCC [HugePedia]
snp3D : Map Gene to Disease5546
BioCentury BCIQPRCC
ClinGenPRCC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5546
Chemical/Pharm GKB GenePA33704
Clinical trialPRCC
Miscellaneous
canSAR (ICR)PRCC (select the gene name)
DataMed IndexPRCC
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRCC
EVEXPRCC
GoPubMedPRCC
iHOPPRCC
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 21:51:01 CET 2019
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