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C2orf48 (chromosome 2 open reading frame 48)

Identity

Alias_symbol (synonym)FLJ25102
Other alias-
HGNC (Hugo) C2orf48
LocusID (NCBI) 348738
Atlas_Id 54171
Location 2p25.1  [Link to chromosome band 2p25]
Location_base_pair Starts at 10141382 and ends at 10211730 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C2orf48 (2p25.1) / RRM2 (2p25.1)RRM2 (2p25.1) / C2orf48 (2p25.1)

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)C2orf48   26322
Cards
Entrez_Gene (NCBI)C2orf48  348738  chromosome 2 open reading frame 48
Aliases
GeneCards (Weizmann)C2orf48
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr2:10141382-10211730 [Contig_View]  C2orf48 [Vega]
TCGA cBioPortalC2orf48
AceView (NCBI)C2orf48
Genatlas (Paris)C2orf48
WikiGenes348738
SOURCE (Princeton)C2orf48
Genetics Home Reference (NIH)C2orf48
Genomic and cartography
GoldenPath hg38 (UCSC)C2orf48  -     chr2:10141382-10211730 +  2p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C2orf48  -     2p25.1   [Description]    (hg19-Feb_2009)
EnsemblC2orf48 - 2p25.1 [CytoView hg19]  C2orf48 - 2p25.1 [CytoView hg38]
Mapping of homologs : NCBIC2orf48 [Mapview hg19]  C2orf48 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK057831 BC093999 BC094001 HY286441
RefSeq transcript (Entrez)NM_182626
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C2orf48
Cluster EST : UnigeneHs.454981 [ NCBI ]
CGAP (NCI)Hs.454981
Gene ExpressionC2orf48 [ NCBI-GEO ]   C2orf48 [ EBI - ARRAY_EXPRESS ]   C2orf48 [ SEEK ]   C2orf48 [ MEM ]
Gene Expression Viewer (FireBrowse)C2orf48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)348738
GTEX Portal (Tissue expression)C2orf48
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96LS8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96LS8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96LS8
Splice isoforms : SwissVarQ96LS8
PhosPhoSitePlusQ96LS8
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)C2orf48
DMDM Disease mutations348738
Blocks (Seattle)C2orf48
SuperfamilyQ96LS8
Peptide AtlasQ96LS8
HPRD08049
IPIIPI00065226   
Protein Interaction databases
DIP (DOE-UCLA)Q96LS8
IntAct (EBI)Q96LS8
BioGRIDC2orf48
STRING (EMBL)C2orf48
ZODIACC2orf48
Ontologies - Pathways
QuickGOQ96LS8
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkC2orf48
Atlas of Cancer Signalling NetworkC2orf48
Wikipedia pathwaysC2orf48
Orthology - Evolution
OrthoDB348738
Phylogenetic Trees/Animal Genes : TreeFamC2orf48
HOVERGENQ96LS8
HOGENOMQ96LS8
Homologs : HomoloGeneC2orf48
Homology/Alignments : Family Browser (UCSC)C2orf48
Gene fusions - Rearrangements
Fusion : MitelmanC2orf48/RRM2 [2p25.1/2p25.1]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC2orf48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C2orf48
dbVarC2orf48
ClinVarC2orf48
1000_GenomesC2orf48 
Exome Variant ServerC2orf48
ExAC (Exome Aggregation Consortium)C2orf48 (select the gene name)
Genetic variants : HAPMAP348738
Genomic Variants (DGV)C2orf48 [DGVbeta]
DECIPHERC2orf48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC2orf48 
Mutations
ICGC Data PortalC2orf48 
TCGA Data PortalC2orf48 
Broad Tumor PortalC2orf48
OASIS PortalC2orf48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC2orf48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC2orf48
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 C2orf48
DgiDB (Drug Gene Interaction Database)C2orf48
DoCM (Curated mutations)C2orf48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C2orf48 (select a term)
intoGenC2orf48
Cancer3DC2orf48(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenC2orf48
Genetic Testing Registry C2orf48
NextProtQ96LS8 [Medical]
TSGene348738
GENETestsC2orf48
Target ValidationC2orf48
Huge Navigator C2orf48 [HugePedia]
snp3D : Map Gene to Disease348738
BioCentury BCIQC2orf48
ClinGenC2orf48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD348738
Chemical/Pharm GKB GenePA162379166
Clinical trialC2orf48
Miscellaneous
canSAR (ICR)C2orf48 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC2orf48
EVEXC2orf48
GoPubMedC2orf48
iHOPC2orf48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:26:12 CEST 2017

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