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C12orf65 (chromosome 12 open reading frame 65)

Identity

Alias_symbol (synonym)FLJ38663
SPG55
Other aliasCOXPD7
HGNC (Hugo) C12orf65
LocusID (NCBI) 91574
Atlas_Id 56463
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 123233297 and ends at 123257959 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)
AGPAT4 (6q26) / C12orf65 (12q24.31)DNASE2 (19p13.2) / C12orf65 (12q24.31)

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)C12orf65   26784
Cards
Entrez_Gene (NCBI)C12orf65  91574  chromosome 12 open reading frame 65
AliasesCOXPD7; SPG55
GeneCards (Weizmann)C12orf65
Ensembl hg19 (Hinxton)ENSG00000130921 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130921 [Gene_View]  ENSG00000130921 [Sequence]  chr12:123233297-123257959 [Contig_View]  C12orf65 [Vega]
ICGC DataPortalENSG00000130921
TCGA cBioPortalC12orf65
AceView (NCBI)C12orf65
Genatlas (Paris)C12orf65
WikiGenes91574
SOURCE (Princeton)C12orf65
Genetics Home Reference (NIH)C12orf65
Genomic and cartography
GoldenPath hg38 (UCSC)C12orf65  -     chr12:123233297-123257959 +  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C12orf65  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblC12orf65 - 12q24.31 [CytoView hg19]  C12orf65 - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBIC12orf65 [Mapview hg19]  C12orf65 [Mapview hg38]
OMIM613541   613559   615035   
Gene and transcription
Genbank (Entrez)AF061733 AK025908 AK095982 AK126043 BC018145
RefSeq transcript (Entrez)NM_001143905 NM_001194995 NM_152269
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C12orf65
Cluster EST : UnigeneHs.319128 [ NCBI ]
CGAP (NCI)Hs.319128
Alternative Splicing GalleryENSG00000130921
Gene ExpressionC12orf65 [ NCBI-GEO ]   C12orf65 [ EBI - ARRAY_EXPRESS ]   C12orf65 [ SEEK ]   C12orf65 [ MEM ]
Gene Expression Viewer (FireBrowse)C12orf65 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91574
GTEX Portal (Tissue expression)C12orf65
Human Protein AtlasENSG00000130921-C12orf65 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H3J6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H3J6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H3J6
Splice isoforms : SwissVarQ9H3J6
PhosPhoSitePlusQ9H3J6
Domains : Interpro (EBI)Pep_chain_release_fac_I_II   
Domain families : Pfam (Sanger)RF-1 (PF00472)   
Domain families : Pfam (NCBI)pfam00472   
Conserved Domain (NCBI)C12orf65
DMDM Disease mutations91574
Blocks (Seattle)C12orf65
SuperfamilyQ9H3J6
Human Protein Atlas [tissue]ENSG00000130921-C12orf65 [tissue]
Peptide AtlasQ9H3J6
HPRD08791
IPIIPI00019211   IPI00382906   IPI01009689   IPI01018612   IPI01014644   
Protein Interaction databases
DIP (DOE-UCLA)Q9H3J6
IntAct (EBI)Q9H3J6
FunCoupENSG00000130921
BioGRIDC12orf65
STRING (EMBL)C12orf65
ZODIACC12orf65
Ontologies - Pathways
QuickGOQ9H3J6
Ontology : AmiGOtranslation release factor activity  mitochondrion  mitochondrial large ribosomal subunit  translational termination  
Ontology : EGO-EBItranslation release factor activity  mitochondrion  mitochondrial large ribosomal subunit  translational termination  
NDEx NetworkC12orf65
Atlas of Cancer Signalling NetworkC12orf65
Wikipedia pathwaysC12orf65
Orthology - Evolution
OrthoDB91574
GeneTree (enSembl)ENSG00000130921
Phylogenetic Trees/Animal Genes : TreeFamC12orf65
HOVERGENQ9H3J6
HOGENOMQ9H3J6
Homologs : HomoloGeneC12orf65
Homology/Alignments : Family Browser (UCSC)C12orf65
Gene fusions - Rearrangements
Fusion : QuiverC12orf65
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC12orf65 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C12orf65
dbVarC12orf65
ClinVarC12orf65
1000_GenomesC12orf65 
Exome Variant ServerC12orf65
ExAC (Exome Aggregation Consortium)ENSG00000130921
GNOMAD BrowserENSG00000130921
Varsome BrowserC12orf65
Genetic variants : HAPMAP91574
Genomic Variants (DGV)C12orf65 [DGVbeta]
DECIPHERC12orf65 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC12orf65 
Mutations
ICGC Data PortalC12orf65 
TCGA Data PortalC12orf65 
Broad Tumor PortalC12orf65
OASIS PortalC12orf65 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC12orf65  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC12orf65
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
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch C12orf65
DgiDB (Drug Gene Interaction Database)C12orf65
DoCM (Curated mutations)C12orf65 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C12orf65 (select a term)
intoGenC12orf65
Cancer3DC12orf65(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613541    613559    615035   
Orphanet
DisGeNETC12orf65
MedgenC12orf65
Genetic Testing Registry C12orf65
NextProtQ9H3J6 [Medical]
TSGene91574
GENETestsC12orf65
Target ValidationC12orf65
Huge Navigator C12orf65 [HugePedia]
snp3D : Map Gene to Disease91574
BioCentury BCIQC12orf65
ClinGenC12orf65
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD91574
Chemical/Pharm GKB GenePA162377963
Clinical trialC12orf65
Miscellaneous
canSAR (ICR)C12orf65 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC12orf65
EVEXC12orf65
GoPubMedC12orf65
iHOPC12orf65
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 10:54:46 CET 2018

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