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C4orf48 (chromosome 4 open reading frame 48)

Identity

Other aliasCHR4_55
HGNC (Hugo) C4orf48
LocusID (NCBI) 401115
Atlas_Id 61204
Location 4p16.3  [Link to chromosome band 4p16]
Location_base_pair Starts at 2042050 and ends at 2043970 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C4orf48 (4p16.3) / NCOA3 (20q13.12)

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)C4orf48   34437
Cards
Entrez_Gene (NCBI)C4orf48  401115  chromosome 4 open reading frame 48
AliasesCHR4_55
GeneCards (Weizmann)C4orf48
Ensembl hg19 (Hinxton)ENSG00000243449 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000243449 [Gene_View]  chr4:2042050-2043970 [Contig_View]  C4orf48 [Vega]
ICGC DataPortalENSG00000243449
TCGA cBioPortalC4orf48
AceView (NCBI)C4orf48
Genatlas (Paris)C4orf48
WikiGenes401115
SOURCE (Princeton)C4orf48
Genetics Home Reference (NIH)C4orf48
Genomic and cartography
GoldenPath hg38 (UCSC)C4orf48  -     chr4:2042050-2043970 +  4p16.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C4orf48  -     4p16.3   [Description]    (hg19-Feb_2009)
EnsemblC4orf48 - 4p16.3 [CytoView hg19]  C4orf48 - 4p16.3 [CytoView hg38]
Mapping of homologs : NCBIC4orf48 [Mapview hg19]  C4orf48 [Mapview hg38]
OMIM614690   
Gene and transcription
Genbank (Entrez)AI929674 AW157771 AY947524 BC038466 BC047038
RefSeq transcript (Entrez)NM_001141936 NM_001168243
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C4orf48
Cluster EST : UnigeneHs.446474 [ NCBI ]
CGAP (NCI)Hs.446474
Alternative Splicing GalleryENSG00000243449
Gene ExpressionC4orf48 [ NCBI-GEO ]   C4orf48 [ EBI - ARRAY_EXPRESS ]   C4orf48 [ SEEK ]   C4orf48 [ MEM ]
Gene Expression Viewer (FireBrowse)C4orf48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)401115
GTEX Portal (Tissue expression)C4orf48
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5BLP8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5BLP8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5BLP8
Splice isoforms : SwissVarQ5BLP8
PhosPhoSitePlusQ5BLP8
Domains : Interpro (EBI)Neuropep-like   
Domain families : Pfam (Sanger)Neuropep_like (PF15161)   
Domain families : Pfam (NCBI)pfam15161   
Conserved Domain (NCBI)C4orf48
DMDM Disease mutations401115
Blocks (Seattle)C4orf48
SuperfamilyQ5BLP8
Human Protein AtlasENSG00000243449
Peptide AtlasQ5BLP8
IPIIPI00954515   IPI00937780   
Protein Interaction databases
DIP (DOE-UCLA)Q5BLP8
IntAct (EBI)Q5BLP8
FunCoupENSG00000243449
BioGRIDC4orf48
STRING (EMBL)C4orf48
ZODIACC4orf48
Ontologies - Pathways
QuickGOQ5BLP8
Ontology : AmiGOextracellular region  
Ontology : EGO-EBIextracellular region  
NDEx NetworkC4orf48
Atlas of Cancer Signalling NetworkC4orf48
Wikipedia pathwaysC4orf48
Orthology - Evolution
OrthoDB401115
GeneTree (enSembl)ENSG00000243449
Phylogenetic Trees/Animal Genes : TreeFamC4orf48
HOVERGENQ5BLP8
HOGENOMQ5BLP8
Homologs : HomoloGeneC4orf48
Homology/Alignments : Family Browser (UCSC)C4orf48
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC4orf48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C4orf48
dbVarC4orf48
ClinVarC4orf48
1000_GenomesC4orf48 
Exome Variant ServerC4orf48
ExAC (Exome Aggregation Consortium)C4orf48 (select the gene name)
Genetic variants : HAPMAP401115
Genomic Variants (DGV)C4orf48 [DGVbeta]
DECIPHERC4orf48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC4orf48 
Mutations
ICGC Data PortalC4orf48 
TCGA Data PortalC4orf48 
Broad Tumor PortalC4orf48
OASIS PortalC4orf48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC4orf48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC4orf48
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 C4orf48
DgiDB (Drug Gene Interaction Database)C4orf48
DoCM (Curated mutations)C4orf48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C4orf48 (select a term)
intoGenC4orf48
Cancer3DC4orf48(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614690   
Orphanet
MedgenC4orf48
Genetic Testing Registry C4orf48
NextProtQ5BLP8 [Medical]
TSGene401115
GENETestsC4orf48
Target ValidationC4orf48
Huge Navigator C4orf48 [HugePedia]
snp3D : Map Gene to Disease401115
BioCentury BCIQC4orf48
ClinGenC4orf48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD401115
Chemical/Pharm GKB GenePA164717315
Clinical trialC4orf48
Miscellaneous
canSAR (ICR)C4orf48 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC4orf48
EVEXC4orf48
GoPubMedC4orf48
iHOPC4orf48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:41:18 CEST 2017

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