Atlas of Genetics and Cytogenetics in Oncology and Haematology


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C8orf48 (chromosome 8 open reading frame 48)

Identity

Alias_symbol (synonym)FLJ25402
Other alias-
HGNC (Hugo) C8orf48
LocusID (NCBI) 157773
Atlas_Id 61286
Location 8p22  [Link to chromosome band 8p22]
Location_base_pair Starts at 13566843 and ends at 13568288 bp from pter ( according to hg38-Dec_2013)

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)C8orf48   26345
Cards
Entrez_Gene (NCBI)C8orf48  157773  chromosome 8 open reading frame 48
Aliases
GeneCards (Weizmann)C8orf48
Ensembl hg19 (Hinxton)ENSG00000164743 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164743 [Gene_View]  chr8:13566843-13568288 [Contig_View]  C8orf48 [Vega]
ICGC DataPortalENSG00000164743
TCGA cBioPortalC8orf48
AceView (NCBI)C8orf48
Genatlas (Paris)C8orf48
WikiGenes157773
SOURCE (Princeton)C8orf48
Genetics Home Reference (NIH)C8orf48
Genomic and cartography
GoldenPath hg38 (UCSC)C8orf48  -     chr8:13566843-13568288 +  8p22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C8orf48  -     8p22   [Description]    (hg19-Feb_2009)
EnsemblC8orf48 - 8p22 [CytoView hg19]  C8orf48 - 8p22 [CytoView hg38]
Mapping of homologs : NCBIC8orf48 [Mapview hg19]  C8orf48 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF394908 AK058131 AK058156 BC031245 CB306127
RefSeq transcript (Entrez)NM_001007090
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C8orf48
Cluster EST : UnigeneHs.104941 [ NCBI ]
CGAP (NCI)Hs.104941
Alternative Splicing GalleryENSG00000164743
Gene ExpressionC8orf48 [ NCBI-GEO ]   C8orf48 [ EBI - ARRAY_EXPRESS ]   C8orf48 [ SEEK ]   C8orf48 [ MEM ]
Gene Expression Viewer (FireBrowse)C8orf48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)157773
GTEX Portal (Tissue expression)C8orf48
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96LL4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96LL4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96LL4
Splice isoforms : SwissVarQ96LL4
PhosPhoSitePlusQ96LL4
Domains : Interpro (EBI)DUF4606   
Domain families : Pfam (Sanger)DUF4606 (PF15379)   
Domain families : Pfam (NCBI)pfam15379   
Conserved Domain (NCBI)C8orf48
DMDM Disease mutations157773
Blocks (Seattle)C8orf48
SuperfamilyQ96LL4
Human Protein AtlasENSG00000164743
Peptide AtlasQ96LL4
HPRD16922
IPIIPI00102166   
Protein Interaction databases
DIP (DOE-UCLA)Q96LL4
IntAct (EBI)Q96LL4
FunCoupENSG00000164743
BioGRIDC8orf48
STRING (EMBL)C8orf48
ZODIACC8orf48
Ontologies - Pathways
QuickGOQ96LL4
Ontology : AmiGOprotein binding  
Ontology : EGO-EBIprotein binding  
NDEx NetworkC8orf48
Atlas of Cancer Signalling NetworkC8orf48
Wikipedia pathwaysC8orf48
Orthology - Evolution
OrthoDB157773
GeneTree (enSembl)ENSG00000164743
Phylogenetic Trees/Animal Genes : TreeFamC8orf48
HOVERGENQ96LL4
HOGENOMQ96LL4
Homologs : HomoloGeneC8orf48
Homology/Alignments : Family Browser (UCSC)C8orf48
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC8orf48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C8orf48
dbVarC8orf48
ClinVarC8orf48
1000_GenomesC8orf48 
Exome Variant ServerC8orf48
ExAC (Exome Aggregation Consortium)C8orf48 (select the gene name)
Genetic variants : HAPMAP157773
Genomic Variants (DGV)C8orf48 [DGVbeta]
DECIPHERC8orf48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC8orf48 
Mutations
ICGC Data PortalC8orf48 
TCGA Data PortalC8orf48 
Broad Tumor PortalC8orf48
OASIS PortalC8orf48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC8orf48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC8orf48
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 C8orf48
DgiDB (Drug Gene Interaction Database)C8orf48
DoCM (Curated mutations)C8orf48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C8orf48 (select a term)
intoGenC8orf48
Cancer3DC8orf48(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenC8orf48
Genetic Testing Registry C8orf48
NextProtQ96LL4 [Medical]
TSGene157773
GENETestsC8orf48
Huge Navigator C8orf48 [HugePedia]
snp3D : Map Gene to Disease157773
BioCentury BCIQC8orf48
ClinGenC8orf48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD157773
Chemical/Pharm GKB GenePA142672367
Clinical trialC8orf48
Miscellaneous
canSAR (ICR)C8orf48 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC8orf48
EVEXC8orf48
GoPubMedC8orf48
iHOPC8orf48
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 May 19 11:03:54 CEST 2017

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