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DIRC1 (disrupted in renal carcinoma 1)

Written2004-06Anita Bonné, Eric Schoenmakers, Ad Geurts van Kessel
Department of Human Genetics (417), P.O. Box 9101, 6500 HB Nijmegen, The Netherlands

(Note : for Links provided by Atlas : click)

Identity

Other alias
HGNC (Hugo) DIRC1
LocusID (NCBI) 116093
Atlas_Id 499
Location 2q32.2  [Link to chromosome band 2q32]
Location_base_pair Starts at 188733738 and ends at 188790104 bp from pter ( according to hg19-Feb_2009)  [Mapping DIRC1.png]
Fusion genes
(updated 2016)
DIRC1 (2q32.2) / RCC1 (1p35.3)RCC1 (1p35.3) / DIRC1 (2q32.2)

DNA/RNA

Description The DIRC1 gene contains 2 exons and spans approximately 57 kb of genomic DNA

Protein

Description 104 amino acids
Expression Expression in adult placenta, testis, ovary, prostate, and in fetal kidney, spleen, and skeletal muscle.
Function unknown

Implicated in

Note
  
Entity t(2;3)(q33;q21) in hereditary renal cell cancer.
Disease Familial renal cell cancer.
Cytogenetics Disruption of the gene because of the t(2;3) translocation.
  

Bibliography

The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.
Druck T, Podolski J, Byrski T, Wyrwicz L, Zajaczek S, Kata G, Borowka A, Lubinski J, Huebner K
Journal of human genetics. 2001 ; 46 (10) : 583-589.
PMID 11587072
 
Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.
Podolski J, Byrski T, Zajaczek S, Druck T, Zimonjic DB, Popescu NC, Kata G, Borowka A, Gronwald J, Lubinski J, Huebner K
Journal of human genetics. 2001 ; 46 (12) : 685-693.
PMID 11776380
 

Citation

This paper should be referenced as such :
Bonné, A ; Schoenmakers, EFPMG ; Geurts, van Kessel A
DIRC1 (disrupted in renal carcinoma 1)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(3):211-211.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/DIRC1ID499.html


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Familial clear cell renal cancer


External links

Nomenclature
HGNC (Hugo)DIRC1   15760
Cards
AtlasDIRC1ID499
Entrez_Gene (NCBI)DIRC1  116093  disrupted in renal carcinoma 1
Aliases
GeneCards (Weizmann)DIRC1
Ensembl hg19 (Hinxton)ENSG00000174325 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174325 [Gene_View]  chr2:188733738-188790104 [Contig_View]  DIRC1 [Vega]
ICGC DataPortalENSG00000174325
TCGA cBioPortalDIRC1
AceView (NCBI)DIRC1
Genatlas (Paris)DIRC1
WikiGenes116093
SOURCE (Princeton)DIRC1
Genetics Home Reference (NIH)DIRC1
Genomic and cartography
GoldenPath hg38 (UCSC)DIRC1  -     chr2:188733738-188790104 -  2q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DIRC1  -     2q32.2   [Description]    (hg19-Feb_2009)
EnsemblDIRC1 - 2q32.2 [CytoView hg19]  DIRC1 - 2q32.2 [CytoView hg38]
Mapping of homologs : NCBIDIRC1 [Mapview hg19]  DIRC1 [Mapview hg38]
OMIM606423   
Gene and transcription
Genbank (Entrez)AY039011 BC125137
RefSeq transcript (Entrez)NM_052952
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DIRC1
Cluster EST : UnigeneHs.470892 [ NCBI ]
CGAP (NCI)Hs.470892
Alternative Splicing GalleryENSG00000174325
Gene ExpressionDIRC1 [ NCBI-GEO ]   DIRC1 [ EBI - ARRAY_EXPRESS ]   DIRC1 [ SEEK ]   DIRC1 [ MEM ]
Gene Expression Viewer (FireBrowse)DIRC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)116093
GTEX Portal (Tissue expression)DIRC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969H9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969H9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969H9
Splice isoforms : SwissVarQ969H9
PhosPhoSitePlusQ969H9
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)DIRC1
DMDM Disease mutations116093
Blocks (Seattle)DIRC1
SuperfamilyQ969H9
Human Protein AtlasENSG00000174325
Peptide AtlasQ969H9
HPRD16219
IPIIPI00056360   
Protein Interaction databases
DIP (DOE-UCLA)Q969H9
IntAct (EBI)Q969H9
FunCoupENSG00000174325
BioGRIDDIRC1
STRING (EMBL)DIRC1
ZODIACDIRC1
Ontologies - Pathways
QuickGOQ969H9
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkDIRC1
Atlas of Cancer Signalling NetworkDIRC1
Wikipedia pathwaysDIRC1
Orthology - Evolution
OrthoDB116093
GeneTree (enSembl)ENSG00000174325
Phylogenetic Trees/Animal Genes : TreeFamDIRC1
HOVERGENQ969H9
HOGENOMQ969H9
Homologs : HomoloGeneDIRC1
Homology/Alignments : Family Browser (UCSC)DIRC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDIRC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DIRC1
dbVarDIRC1
ClinVarDIRC1
1000_GenomesDIRC1 
Exome Variant ServerDIRC1
ExAC (Exome Aggregation Consortium)DIRC1 (select the gene name)
Genetic variants : HAPMAP116093
Genomic Variants (DGV)DIRC1 [DGVbeta]
DECIPHERDIRC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDIRC1 
Mutations
ICGC Data PortalDIRC1 
TCGA Data PortalDIRC1 
Broad Tumor PortalDIRC1
OASIS PortalDIRC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDIRC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDIRC1
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 DIRC1
DgiDB (Drug Gene Interaction Database)DIRC1
DoCM (Curated mutations)DIRC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DIRC1 (select a term)
intoGenDIRC1
NCG5 (London)DIRC1
Cancer3DDIRC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606423   
Orphanet
MedgenDIRC1
Genetic Testing Registry DIRC1
NextProtQ969H9 [Medical]
TSGene116093
GENETestsDIRC1
Target ValidationDIRC1
Huge Navigator DIRC1 [HugePedia]
snp3D : Map Gene to Disease116093
BioCentury BCIQDIRC1
ClinGenDIRC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD116093
Chemical/Pharm GKB GenePA27340
Clinical trialDIRC1
Miscellaneous
canSAR (ICR)DIRC1 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDIRC1
EVEXDIRC1
GoPubMedDIRC1
iHOPDIRC1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 17:01:06 CEST 2017

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