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C12orf43 (chromosome 12 open reading frame 43)

Identity

Alias (NCBI)Custos
HGNC (Hugo) C12orf43
HGNC Alias symbFLJ12448
LocusID (NCBI) 64897
Atlas_Id 60911
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 121002422 and ends at 121016502 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)

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)C12orf43   25719
Cards
Entrez_Gene (NCBI)C12orf43    chromosome 12 open reading frame 43
AliasesCustos
GeneCards (Weizmann)C12orf43
Ensembl hg19 (Hinxton)ENSG00000157895 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157895 [Gene_View]  ENSG00000157895 [Sequence]  chr12:121002422-121016502 [Contig_View]  C12orf43 [Vega]
ICGC DataPortalENSG00000157895
TCGA cBioPortalC12orf43
AceView (NCBI)C12orf43
Genatlas (Paris)C12orf43
SOURCE (Princeton)C12orf43
Genetics Home Reference (NIH)C12orf43
Genomic and cartography
GoldenPath hg38 (UCSC)C12orf43  -     chr12:121002422-121016502 -  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C12orf43  -     12q24.31   [Description]    (hg19-Feb_2009)
GoldenPathC12orf43 - 12q24.31 [CytoView hg19]  C12orf43 - 12q24.31 [CytoView hg38]
ImmunoBaseENSG00000157895
genome Data Viewer NCBIC12orf43 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK022510 AK222630 AK225162 AK299170 AK301566
RefSeq transcript (Entrez)NM_001286191 NM_001286192 NM_001286195 NM_001286196 NM_001286197 NM_001286198 NM_022895
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C12orf43
Alternative Splicing GalleryENSG00000157895
Gene ExpressionC12orf43 [ NCBI-GEO ]   C12orf43 [ EBI - ARRAY_EXPRESS ]   C12orf43 [ SEEK ]   C12orf43 [ MEM ]
Gene Expression Viewer (FireBrowse)C12orf43 [ Firebrowse - Broad ]
GenevisibleExpression of C12orf43 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64897
GTEX Portal (Tissue expression)C12orf43
Human Protein AtlasENSG00000157895-C12orf43 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96C57   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96C57  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96C57
Splice isoforms : SwissVarQ96C57
PhosPhoSitePlusQ96C57
Domains : Interpro (EBI)CUSTOS   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)C12orf43
Blocks (Seattle)C12orf43
SuperfamilyQ96C57
Human Protein Atlas [tissue]ENSG00000157895-C12orf43 [tissue]
Peptide AtlasQ96C57
HPRD07771
IPIIPI00795249   IPI00100930   IPI01015688   IPI01009335   IPI01015332   IPI01013004   IPI01013190   IPI01012062   
Protein Interaction databases
DIP (DOE-UCLA)Q96C57
IntAct (EBI)Q96C57
BioGRIDC12orf43
STRING (EMBL)C12orf43
ZODIACC12orf43
Ontologies - Pathways
QuickGOQ96C57
Ontology : AmiGOprotein binding  nuclear envelope  multicellular organism development  Wnt signaling pathway  negative regulation of Wnt signaling pathway  Spemann organizer formation  
Ontology : EGO-EBIprotein binding  nuclear envelope  multicellular organism development  Wnt signaling pathway  negative regulation of Wnt signaling pathway  Spemann organizer formation  
NDEx NetworkC12orf43
Atlas of Cancer Signalling NetworkC12orf43
Wikipedia pathwaysC12orf43
Orthology - Evolution
OrthoDB64897
GeneTree (enSembl)ENSG00000157895
Phylogenetic Trees/Animal Genes : TreeFamC12orf43
HOGENOMQ96C57
Homologs : HomoloGeneC12orf43
Homology/Alignments : Family Browser (UCSC)C12orf43
Gene fusions - Rearrangements
Fusion : QuiverC12orf43
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC12orf43 [hg38]
dbVarC12orf43
ClinVarC12orf43
MonarchC12orf43
1000_GenomesC12orf43 
Exome Variant ServerC12orf43
GNOMAD BrowserENSG00000157895
Varsome BrowserC12orf43
Genomic Variants (DGV)C12orf43 [DGVbeta]
DECIPHERC12orf43 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC12orf43 
Mutations
ICGC Data PortalC12orf43 
TCGA Data PortalC12orf43 
Broad Tumor PortalC12orf43
OASIS PortalC12orf43 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC12orf43  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DC12orf43
Mutations and Diseases : HGMDC12orf43
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 C12orf43
DgiDB (Drug Gene Interaction Database)C12orf43
DoCM (Curated mutations)C12orf43 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C12orf43 (select a term)
intoGenC12orf43
Cancer3DC12orf43(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETC12orf43
MedgenC12orf43
Genetic Testing Registry C12orf43
NextProtQ96C57 [Medical]
GENETestsC12orf43
Target ValidationC12orf43
Huge Navigator C12orf43 [HugePedia]
ClinGenC12orf43
Clinical trials, drugs, therapy
MyCancerGenomeC12orf43
Protein Interactions : CTD
Pharm GKB GenePA143485373
Clinical trialC12orf43
Miscellaneous
canSAR (ICR)C12orf43 (select the gene name)
HarmonizomeC12orf43
DataMed IndexC12orf43
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC12orf43
EVEXC12orf43
GoPubMedC12orf43
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:47:30 CET 2020

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