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C12orf49 (chromosome 12 open reading frame 49)

Identity

Alias_symbol (synonym)FLJ21415
Other alias-
HGNC (Hugo) C12orf49
LocusID (NCBI) 79794
Atlas_Id 42930
Location 12q24.22  [Link to chromosome band 12q24]
Location_base_pair Starts at 116713320 and ends at 116738070 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP2A2 (12q24.11) / C12orf49 (12q24.22)C12orf49 (12q24.22) / ATP10A (15q12)C12orf49 (12q24.22) / MDM2 (12q15)
C12orf49 (12q24.22) / SLC35E3 (12q15)C12orf49 (12q24.22) / SRRM4 (12q24.23)ATP2A2 12q24.11 / C12orf49 12q24.22
C12orf49 12q24.22 / MDM2 12q15C12orf49 12q24.22 / SLC35E3 12q15C12orf49 12q24.22 / SRRM4 12q24.23

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)C12orf49   26128
Cards
Entrez_Gene (NCBI)C12orf49  79794  chromosome 12 open reading frame 49
Aliases
GeneCards (Weizmann)C12orf49
Ensembl hg19 (Hinxton)ENSG00000111412 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111412 [Gene_View]  chr12:116713320-116738070 [Contig_View]  C12orf49 [Vega]
ICGC DataPortalENSG00000111412
TCGA cBioPortalC12orf49
AceView (NCBI)C12orf49
Genatlas (Paris)C12orf49
WikiGenes79794
SOURCE (Princeton)C12orf49
Genetics Home Reference (NIH)C12orf49
Genomic and cartography
GoldenPath hg38 (UCSC)C12orf49  -     chr12:116713320-116738070 -  12q24.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C12orf49  -     12q24.22   [Description]    (hg19-Feb_2009)
EnsemblC12orf49 - 12q24.22 [CytoView hg19]  C12orf49 - 12q24.22 [CytoView hg38]
Mapping of homologs : NCBIC12orf49 [Mapview hg19]  C12orf49 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK025068 AK222983 AK298857 AK309652 BC019843
RefSeq transcript (Entrez)NM_024738
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C12orf49
Cluster EST : UnigeneHs.592011 [ NCBI ]
CGAP (NCI)Hs.592011
Alternative Splicing GalleryENSG00000111412
Gene ExpressionC12orf49 [ NCBI-GEO ]   C12orf49 [ EBI - ARRAY_EXPRESS ]   C12orf49 [ SEEK ]   C12orf49 [ MEM ]
Gene Expression Viewer (FireBrowse)C12orf49 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79794
GTEX Portal (Tissue expression)C12orf49
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H741   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H741  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H741
Splice isoforms : SwissVarQ9H741
PhosPhoSitePlusQ9H741
Domains : Interpro (EBI)UPF0454   
Domain families : Pfam (Sanger)DUF2054 (PF10218)   
Domain families : Pfam (NCBI)pfam10218   
Conserved Domain (NCBI)C12orf49
DMDM Disease mutations79794
Blocks (Seattle)C12orf49
SuperfamilyQ9H741
Human Protein AtlasENSG00000111412
Peptide AtlasQ9H741
HPRD07962
IPIIPI00015479   IPI00921953   IPI01022913   IPI01022743   IPI01021278   
Protein Interaction databases
DIP (DOE-UCLA)Q9H741
IntAct (EBI)Q9H741
FunCoupENSG00000111412
BioGRIDC12orf49
STRING (EMBL)C12orf49
ZODIACC12orf49
Ontologies - Pathways
QuickGOQ9H741
Ontology : AmiGOprotein binding  extracellular region  
Ontology : EGO-EBIprotein binding  extracellular region  
NDEx NetworkC12orf49
Atlas of Cancer Signalling NetworkC12orf49
Wikipedia pathwaysC12orf49
Orthology - Evolution
OrthoDB79794
GeneTree (enSembl)ENSG00000111412
Phylogenetic Trees/Animal Genes : TreeFamC12orf49
HOVERGENQ9H741
HOGENOMQ9H741
Homologs : HomoloGeneC12orf49
Homology/Alignments : Family Browser (UCSC)C12orf49
Gene fusions - Rearrangements
Fusion : MitelmanATP2A2/C12orf49 [12q24.11/12q24.22]  [t(12;12)(q24;q24)]  
Fusion : MitelmanC12orf49/MDM2 [12q24.22/12q15]  [t(12;12)(q15;q24)]  
Fusion : MitelmanC12orf49/SLC35E3 [12q24.22/12q15]  [t(12;12)(q15;q24)]  
Fusion : MitelmanC12orf49/SRRM4 [12q24.22/12q24.23]  [t(12;12)(q24;q24)]  
Fusion: TCGAATP2A2 12q24.11 C12orf49 12q24.22 LUAD
Fusion: TCGAC12orf49 12q24.22 MDM2 12q15 GBM
Fusion: TCGAC12orf49 12q24.22 SLC35E3 12q15 GBM
Fusion: TCGAC12orf49 12q24.22 SRRM4 12q24.23 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC12orf49 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C12orf49
dbVarC12orf49
ClinVarC12orf49
1000_GenomesC12orf49 
Exome Variant ServerC12orf49
ExAC (Exome Aggregation Consortium)C12orf49 (select the gene name)
Genetic variants : HAPMAP79794
Genomic Variants (DGV)C12orf49 [DGVbeta]
DECIPHERC12orf49 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC12orf49 
Mutations
ICGC Data PortalC12orf49 
TCGA Data PortalC12orf49 
Broad Tumor PortalC12orf49
OASIS PortalC12orf49 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC12orf49  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC12orf49
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch C12orf49
DgiDB (Drug Gene Interaction Database)C12orf49
DoCM (Curated mutations)C12orf49 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C12orf49 (select a term)
intoGenC12orf49
Cancer3DC12orf49(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenC12orf49
Genetic Testing Registry C12orf49
NextProtQ9H741 [Medical]
TSGene79794
GENETestsC12orf49
Target ValidationC12orf49
Huge Navigator C12orf49 [HugePedia]
snp3D : Map Gene to Disease79794
BioCentury BCIQC12orf49
ClinGenC12orf49
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79794
Chemical/Pharm GKB GenePA128394721
Clinical trialC12orf49
Miscellaneous
canSAR (ICR)C12orf49 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC12orf49
EVEXC12orf49
GoPubMedC12orf49
iHOPC12orf49
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 13:48:16 CEST 2017

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