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C12orf40 (chromosome 12 open reading frame 40)

Identity

Alias_symbol (synonym)FLJ40126
Other aliasHEL-206
HEL-S-94
HGNC (Hugo) C12orf40
LocusID (NCBI) 283461
Atlas_Id 60910
Location 12q12  [Link to chromosome band 12q12]
Location_base_pair Starts at 39626167 and ends at 39721916 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C12orf40 (12q12) / VTI1B (14q24.1)IRS1 (2q36.3) / C12orf40 (12q12)

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)C12orf40   26846
Cards
Entrez_Gene (NCBI)C12orf40  283461  chromosome 12 open reading frame 40
AliasesHEL-206; HEL-S-94
GeneCards (Weizmann)C12orf40
Ensembl hg19 (Hinxton)ENSG00000180116 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180116 [Gene_View]  chr12:39626167-39721916 [Contig_View]  C12orf40 [Vega]
ICGC DataPortalENSG00000180116
TCGA cBioPortalC12orf40
AceView (NCBI)C12orf40
Genatlas (Paris)C12orf40
WikiGenes283461
SOURCE (Princeton)C12orf40
Genetics Home Reference (NIH)C12orf40
Genomic and cartography
GoldenPath hg38 (UCSC)C12orf40  -     chr12:39626167-39721916 +  12q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C12orf40  -     12q12   [Description]    (hg19-Feb_2009)
EnsemblC12orf40 - 12q12 [CytoView hg19]  C12orf40 - 12q12 [CytoView hg38]
Mapping of homologs : NCBIC12orf40 [Mapview hg19]  C12orf40 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK097445 AL705293 BC038754 BC048120 BI461967
RefSeq transcript (Entrez)NM_001031748 NM_001319247
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C12orf40
Cluster EST : UnigeneHs.648205 [ NCBI ]
CGAP (NCI)Hs.648205
Alternative Splicing GalleryENSG00000180116
Gene ExpressionC12orf40 [ NCBI-GEO ]   C12orf40 [ EBI - ARRAY_EXPRESS ]   C12orf40 [ SEEK ]   C12orf40 [ MEM ]
Gene Expression Viewer (FireBrowse)C12orf40 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)283461
GTEX Portal (Tissue expression)C12orf40
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86WS4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86WS4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86WS4
Splice isoforms : SwissVarQ86WS4
PhosPhoSitePlusQ86WS4
Domains : Interpro (EBI)DUF4552   
Domain families : Pfam (Sanger)DUF4552 (PF15089)   
Domain families : Pfam (NCBI)pfam15089   
Conserved Domain (NCBI)C12orf40
DMDM Disease mutations283461
Blocks (Seattle)C12orf40
SuperfamilyQ86WS4
Human Protein AtlasENSG00000180116
Peptide AtlasQ86WS4
HPRD08806
IPIIPI00795582   IPI00384479   IPI00167289   
Protein Interaction databases
DIP (DOE-UCLA)Q86WS4
IntAct (EBI)Q86WS4
FunCoupENSG00000180116
BioGRIDC12orf40
STRING (EMBL)C12orf40
ZODIACC12orf40
Ontologies - Pathways
QuickGOQ86WS4
Ontology : AmiGOprotein binding  
Ontology : EGO-EBIprotein binding  
NDEx NetworkC12orf40
Atlas of Cancer Signalling NetworkC12orf40
Wikipedia pathwaysC12orf40
Orthology - Evolution
OrthoDB283461
GeneTree (enSembl)ENSG00000180116
Phylogenetic Trees/Animal Genes : TreeFamC12orf40
HOVERGENQ86WS4
HOGENOMQ86WS4
Homologs : HomoloGeneC12orf40
Homology/Alignments : Family Browser (UCSC)C12orf40
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC12orf40 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C12orf40
dbVarC12orf40
ClinVarC12orf40
1000_GenomesC12orf40 
Exome Variant ServerC12orf40
ExAC (Exome Aggregation Consortium)C12orf40 (select the gene name)
Genetic variants : HAPMAP283461
Genomic Variants (DGV)C12orf40 [DGVbeta]
DECIPHERC12orf40 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC12orf40 
Mutations
ICGC Data PortalC12orf40 
TCGA Data PortalC12orf40 
Broad Tumor PortalC12orf40
OASIS PortalC12orf40 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC12orf40  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC12orf40
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 C12orf40
DgiDB (Drug Gene Interaction Database)C12orf40
DoCM (Curated mutations)C12orf40 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C12orf40 (select a term)
intoGenC12orf40
Cancer3DC12orf40(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenC12orf40
Genetic Testing Registry C12orf40
NextProtQ86WS4 [Medical]
TSGene283461
GENETestsC12orf40
Huge Navigator C12orf40 [HugePedia]
snp3D : Map Gene to Disease283461
BioCentury BCIQC12orf40
ClinGenC12orf40
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD283461
Chemical/Pharm GKB GenePA143485370
Clinical trialC12orf40
Miscellaneous
canSAR (ICR)C12orf40 (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC12orf40
EVEXC12orf40
GoPubMedC12orf40
iHOPC12orf40
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:02:26 CEST 2017

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