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C6orf48 (chromosome 6 open reading frame 48)

Identity

Alias_symbol (synonym)D6S57
G8
Other alias
HGNC (Hugo) C6orf48
LocusID (NCBI) 50854
Atlas_Id 53559
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 31834915 and ends at 31839766 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)
C6orf48 (6p21.33) / B2M (15q21.1)C6orf48 (6p21.33) / COMMD2 (3q25.1)C6orf48 (6p21.33) / PTMA (2q37.1)
C6orf48 (6p21.33) / ST8SIA4 (5q21.1)C6orf48 (6p21.33) / THAP1 (8p11.21)C6orf48 (6p21.33) / TNRC18 (7p22.1)

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)C6orf48   19078
Cards
Entrez_Gene (NCBI)C6orf48  50854  chromosome 6 open reading frame 48
AliasesD6S57; G8
GeneCards (Weizmann)C6orf48
Ensembl hg19 (Hinxton)ENSG00000204387 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204387 [Gene_View]  ENSG00000204387 [Sequence]  chr6:31834915-31839766 [Contig_View]  C6orf48 [Vega]
ICGC DataPortalENSG00000204387
TCGA cBioPortalC6orf48
AceView (NCBI)C6orf48
Genatlas (Paris)C6orf48
WikiGenes50854
SOURCE (Princeton)C6orf48
Genetics Home Reference (NIH)C6orf48
Genomic and cartography
GoldenPath hg38 (UCSC)C6orf48  -     chr6:31834915-31839766 +  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C6orf48  -     6p21.33   [Description]    (hg19-Feb_2009)
EnsemblC6orf48 - 6p21.33 [CytoView hg19]  C6orf48 - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBIC6orf48 [Mapview hg19]  C6orf48 [Mapview hg38]
OMIM605447   
Gene and transcription
Genbank (Entrez)AA720680 AJ249731 AJ249731 AJ249732 AK311989
RefSeq transcript (Entrez)NM_001040437 NM_001040438 NM_001287482 NM_001287483 NM_001287484 NM_001287485 NM_001287486 NM_001287487 NM_001287488 NM_016947
RefSeq genomic (Entrez)NC_000006 NC_018917 NT_113891 NT_167244 NT_167245 NT_167248
Consensus coding sequences : CCDS (NCBI)C6orf48
Cluster EST : UnigeneHs.714250 [ NCBI ]
CGAP (NCI)Hs.714250
Alternative Splicing GalleryENSG00000204387
Gene ExpressionC6orf48 [ NCBI-GEO ]   C6orf48 [ EBI - ARRAY_EXPRESS ]   C6orf48 [ SEEK ]   C6orf48 [ MEM ]
Gene Expression Viewer (FireBrowse)C6orf48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50854
GTEX Portal (Tissue expression)C6orf48
Human Protein AtlasENSG00000204387-C6orf48 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBA6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBA6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBA6
Splice isoforms : SwissVarQ9UBA6
PhosPhoSitePlusQ9UBA6
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)C6orf48
DMDM Disease mutations50854
Blocks (Seattle)C6orf48
SuperfamilyQ9UBA6
Human Protein Atlas [tissue]ENSG00000204387-C6orf48 [tissue]
Peptide AtlasQ9UBA6
HPRD12015
IPIIPI00383662   IPI01018684   IPI01010488   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBA6
IntAct (EBI)Q9UBA6
FunCoupENSG00000204387
BioGRIDC6orf48
STRING (EMBL)C6orf48
ZODIACC6orf48
Ontologies - Pathways
QuickGOQ9UBA6
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkC6orf48
Atlas of Cancer Signalling NetworkC6orf48
Wikipedia pathwaysC6orf48
Orthology - Evolution
OrthoDB50854
GeneTree (enSembl)ENSG00000204387
Phylogenetic Trees/Animal Genes : TreeFamC6orf48
HOVERGENQ9UBA6
HOGENOMQ9UBA6
Homologs : HomoloGeneC6orf48
Homology/Alignments : Family Browser (UCSC)C6orf48
Gene fusions - Rearrangements
Fusion : QuiverC6orf48
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC6orf48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C6orf48
dbVarC6orf48
ClinVarC6orf48
1000_GenomesC6orf48 
Exome Variant ServerC6orf48
ExAC (Exome Aggregation Consortium)ENSG00000204387
GNOMAD BrowserENSG00000204387
Genetic variants : HAPMAP50854
Genomic Variants (DGV)C6orf48 [DGVbeta]
DECIPHERC6orf48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC6orf48 
Mutations
ICGC Data PortalC6orf48 
TCGA Data PortalC6orf48 
Broad Tumor PortalC6orf48
OASIS PortalC6orf48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC6orf48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC6orf48
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 C6orf48
DgiDB (Drug Gene Interaction Database)C6orf48
DoCM (Curated mutations)C6orf48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C6orf48 (select a term)
intoGenC6orf48
Cancer3DC6orf48(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605447   
Orphanet
DisGeNETC6orf48
MedgenC6orf48
Genetic Testing Registry C6orf48
NextProtQ9UBA6 [Medical]
TSGene50854
GENETestsC6orf48
Target ValidationC6orf48
Huge Navigator C6orf48 [HugePedia]
snp3D : Map Gene to Disease50854
BioCentury BCIQC6orf48
ClinGenC6orf48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD50854
Chemical/Pharm GKB GenePA38786
Clinical trialC6orf48
Miscellaneous
canSAR (ICR)C6orf48 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC6orf48
EVEXC6orf48
GoPubMedC6orf48
iHOPC6orf48
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 : Fri Jun 22 16:17:02 CEST 2018

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