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POLR1C (RNA polymerase I subunit C)

Identity

Alias_namespolymerase (RNA) I polypeptide C, 30kDa
Alias_symbol (synonym)RPA40
RPA39
RPA5
RPAC1
Other aliasAC40
HLD11
RPC40
TCS3
HGNC (Hugo) POLR1C
LocusID (NCBI) 9533
Atlas_Id 72048
Location 6p21.1  [Link to chromosome band 6p21]
Location_base_pair Starts at 43517024 and ends at 43529376 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)
POLR1C (6p21.1) / MDGA1 (6p21.2)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;6)(p21;p21) POLR1C/MDGA1


External links

Nomenclature
HGNC (Hugo)POLR1C   20194
Cards
Entrez_Gene (NCBI)POLR1C  9533  RNA polymerase I subunit C
AliasesAC40; HLD11; RPA39; RPA40; 
RPA5; RPAC1; RPC40; TCS3
GeneCards (Weizmann)POLR1C
Ensembl hg19 (Hinxton)ENSG00000171453 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171453 [Gene_View]  ENSG00000171453 [Sequence]  chr6:43517024-43529376 [Contig_View]  POLR1C [Vega]
ICGC DataPortalENSG00000171453
TCGA cBioPortalPOLR1C
AceView (NCBI)POLR1C
Genatlas (Paris)POLR1C
WikiGenes9533
SOURCE (Princeton)POLR1C
Genetics Home Reference (NIH)POLR1C
Genomic and cartography
GoldenPath hg38 (UCSC)POLR1C  -     chr6:43517024-43529376 +  6p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POLR1C  -     6p21.1   [Description]    (hg19-Feb_2009)
EnsemblPOLR1C - 6p21.1 [CytoView hg19]  POLR1C - 6p21.1 [CytoView hg38]
Mapping of homologs : NCBIPOLR1C [Mapview hg19]  POLR1C [Mapview hg38]
OMIM248390   610060   616494   
Gene and transcription
Genbank (Entrez)AF008442 AF047441 AK293561 BC008118 BC008863
RefSeq transcript (Entrez)NM_001318876 NM_004875 NM_203290
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POLR1C
Cluster EST : UnigeneHs.743509 [ NCBI ]
CGAP (NCI)Hs.743509
Alternative Splicing GalleryENSG00000171453
Gene ExpressionPOLR1C [ NCBI-GEO ]   POLR1C [ EBI - ARRAY_EXPRESS ]   POLR1C [ SEEK ]   POLR1C [ MEM ]
Gene Expression Viewer (FireBrowse)POLR1C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9533
GTEX Portal (Tissue expression)POLR1C
Human Protein AtlasENSG00000171453-POLR1C [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15160   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15160  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15160
Splice isoforms : SwissVarO15160
PhosPhoSitePlusO15160
Domaine pattern : Prosite (Expaxy)RNA_POL_D_30KD (PS00446)   
Domains : Interpro (EBI)DNA-dir_RNA_pol_30-40kDasu_CS    DNA-dir_RNA_pol_insert    DNA-dir_RNA_pol_RpoA/D/Rpb3    RBP11-like_dimer    RNAPI/II_AC40   
Domain families : Pfam (Sanger)RNA_pol_A_bac (PF01000)    RNA_pol_L (PF01193)   
Domain families : Pfam (NCBI)pfam01000    pfam01193   
Domain families : Smart (EMBL)RPOLD (SM00662)  
Conserved Domain (NCBI)POLR1C
DMDM Disease mutations9533
Blocks (Seattle)POLR1C
SuperfamilyO15160
Human Protein Atlas [tissue]ENSG00000171453-POLR1C [tissue]
Peptide AtlasO15160
HPRD09661
IPIIPI00005179   IPI00217386   IPI00552677   IPI00552946   IPI00552334   IPI00966384   IPI00964572   
Protein Interaction databases
DIP (DOE-UCLA)O15160
IntAct (EBI)O15160
FunCoupENSG00000171453
BioGRIDPOLR1C
STRING (EMBL)POLR1C
ZODIACPOLR1C
Ontologies - Pathways
QuickGOO15160
Ontology : AmiGO###############################################################################################################################################################################################################################################################                                    
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                                    
Pathways : BIOCARTATumor Suppressor Arf Inhibits Ribosomal Biogenesis [Genes]   
Pathways : KEGGPurine metabolism    RNA polymerase    Pyrimidine metabolism   
NDEx NetworkPOLR1C
Atlas of Cancer Signalling NetworkPOLR1C
Wikipedia pathwaysPOLR1C
Orthology - Evolution
OrthoDB9533
GeneTree (enSembl)ENSG00000171453
Phylogenetic Trees/Animal Genes : TreeFamPOLR1C
HOVERGENO15160
HOGENOMO15160
Homologs : HomoloGenePOLR1C
Homology/Alignments : Family Browser (UCSC)POLR1C
Gene fusions - Rearrangements
Fusion : QuiverPOLR1C
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOLR1C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POLR1C
dbVarPOLR1C
ClinVarPOLR1C
1000_GenomesPOLR1C 
Exome Variant ServerPOLR1C
ExAC (Exome Aggregation Consortium)ENSG00000171453
GNOMAD BrowserENSG00000171453
Varsome BrowserPOLR1C
Genetic variants : HAPMAP9533
Genomic Variants (DGV)POLR1C [DGVbeta]
DECIPHERPOLR1C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOLR1C 
Mutations
ICGC Data PortalPOLR1C 
TCGA Data PortalPOLR1C 
Broad Tumor PortalPOLR1C
OASIS PortalPOLR1C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOLR1C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOLR1C
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch POLR1C
DgiDB (Drug Gene Interaction Database)POLR1C
DoCM (Curated mutations)POLR1C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POLR1C (select a term)
intoGenPOLR1C
Cancer3DPOLR1C(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM248390    610060    616494   
Orphanet293    11816   
DisGeNETPOLR1C
MedgenPOLR1C
Genetic Testing Registry POLR1C
NextProtO15160 [Medical]
TSGene9533
GENETestsPOLR1C
Target ValidationPOLR1C
Huge Navigator POLR1C [HugePedia]
snp3D : Map Gene to Disease9533
BioCentury BCIQPOLR1C
ClinGenPOLR1C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9533
Chemical/Pharm GKB GenePA134882004
Clinical trialPOLR1C
Miscellaneous
canSAR (ICR)POLR1C (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOLR1C
EVEXPOLR1C
GoPubMedPOLR1C
iHOPPOLR1C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 14:24:28 CEST 2018

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