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C2orf54 (chromosome 2 open reading frame 54)

Identity

Alias_symbol (synonym)FLJ22671
Other alias-
HGNC (Hugo) C2orf54
LocusID (NCBI) 79919
Atlas_Id 61156
Location 2q37.3  [Link to chromosome band 2q37]
Location_base_pair Starts at 241825465 and ends at 241835573 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KIF1A (2q37.3) / C2orf54 (2q37.3)

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)C2orf54   26216
Cards
Entrez_Gene (NCBI)C2orf54  79919  chromosome 2 open reading frame 54
Aliases
GeneCards (Weizmann)C2orf54
Ensembl hg19 (Hinxton)ENSG00000172478 [Gene_View]  chr2:241825465-241835573 [Contig_View]  C2orf54 [Vega]
Ensembl hg38 (Hinxton)ENSG00000172478 [Gene_View]  chr2:241825465-241835573 [Contig_View]  C2orf54 [Vega]
ICGC DataPortalENSG00000172478
TCGA cBioPortalC2orf54
AceView (NCBI)C2orf54
Genatlas (Paris)C2orf54
WikiGenes79919
SOURCE (Princeton)C2orf54
Genetics Home Reference (NIH)C2orf54
Genomic and cartography
GoldenPath hg19 (UCSC)C2orf54  -     chr2:241825465-241835573 -  2q37.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)C2orf54  -     2q37.3   [Description]    (hg38-Dec_2013)
EnsemblC2orf54 - 2q37.3 [CytoView hg19]  C2orf54 - 2q37.3 [CytoView hg38]
Mapping of homologs : NCBIC2orf54 [Mapview hg19]  C2orf54 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK026324 AK055735 AK056601 AK096434 BC125154
RefSeq transcript (Entrez)NM_001085437 NM_001282921 NM_024861
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929308
Consensus coding sequences : CCDS (NCBI)C2orf54
Cluster EST : UnigeneHs.193745 [ NCBI ]
CGAP (NCI)Hs.193745
Alternative Splicing GalleryENSG00000172478
Gene ExpressionC2orf54 [ NCBI-GEO ]   C2orf54 [ EBI - ARRAY_EXPRESS ]   C2orf54 [ SEEK ]   C2orf54 [ MEM ]
Gene Expression Viewer (FireBrowse)C2orf54 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79919
GTEX Portal (Tissue expression)C2orf54
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08AI8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ08AI8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08AI8
Splice isoforms : SwissVarQ08AI8
PhosPhoSitePlusQ08AI8
Domains : Interpro (EBI)C2orf54    Mab-21_dom   
Domain families : Pfam (Sanger)Mab-21 (PF03281)   
Domain families : Pfam (NCBI)pfam03281   
Conserved Domain (NCBI)C2orf54
DMDM Disease mutations79919
Blocks (Seattle)C2orf54
SuperfamilyQ08AI8
Human Protein AtlasENSG00000172478
Peptide AtlasQ08AI8
HPRD08003
IPIIPI00782980   IPI00847713   IPI00016347   IPI00903297   IPI00893177   IPI01009628   
Protein Interaction databases
DIP (DOE-UCLA)Q08AI8
IntAct (EBI)Q08AI8
FunCoupENSG00000172478
BioGRIDC2orf54
STRING (EMBL)C2orf54
ZODIACC2orf54
Ontologies - Pathways
QuickGOQ08AI8
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkC2orf54
Atlas of Cancer Signalling NetworkC2orf54
Wikipedia pathwaysC2orf54
Orthology - Evolution
OrthoDB79919
GeneTree (enSembl)ENSG00000172478
Phylogenetic Trees/Animal Genes : TreeFamC2orf54
HOVERGENQ08AI8
HOGENOMQ08AI8
Homologs : HomoloGeneC2orf54
Homology/Alignments : Family Browser (UCSC)C2orf54
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC2orf54 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C2orf54
dbVarC2orf54
ClinVarC2orf54
1000_GenomesC2orf54 
Exome Variant ServerC2orf54
ExAC (Exome Aggregation Consortium)C2orf54 (select the gene name)
Genetic variants : HAPMAP79919
Genomic Variants (DGV)C2orf54 [DGVbeta]
DECIPHER (Syndromes)2:241825465-241835573  ENSG00000172478
CONAN: Copy Number AnalysisC2orf54 
Mutations
ICGC Data PortalC2orf54 
TCGA Data PortalC2orf54 
Broad Tumor PortalC2orf54
OASIS PortalC2orf54 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC2orf54  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC2orf54
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 C2orf54
DgiDB (Drug Gene Interaction Database)C2orf54
DoCM (Curated mutations)C2orf54 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C2orf54 (select a term)
intoGenC2orf54
Cancer3DC2orf54(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenC2orf54
Genetic Testing Registry C2orf54
NextProtQ08AI8 [Medical]
TSGene79919
GENETestsC2orf54
Huge Navigator C2orf54 [HugePedia]
snp3D : Map Gene to Disease79919
BioCentury BCIQC2orf54
ClinGenC2orf54
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79919
Chemical/Pharm GKB GenePA162379226
Clinical trialC2orf54
Miscellaneous
canSAR (ICR)C2orf54 (select the gene name)
Probes
Litterature
PubMed2 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC2orf54
EVEXC2orf54
GoPubMedC2orf54
iHOPC2orf54
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:57:14 CET 2017

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