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C5orf42 (chromosome 5 open reading frame 42)

Identity

Alias_symbol (synonym)FLJ13231
JBTS17
Hug
Other aliasOFD6
HGNC (Hugo) C5orf42
LocusID (NCBI) 65250
Atlas_Id 61216
Location 5p13.2  [Link to chromosome band 5p13]
Location_base_pair Starts at 37106228 and ends at 37249428 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C5orf42 (5p13.2) / NPR3 (5p13.3)C5orf42 (5p13.2) / NUP155 (5p13.2)C5orf42 (5p13.2) / RPN2 (20q11.23)
CAMLG (5q31.1) / C5orf42 (5p13.2)MTMR12 (5p13.3) / C5orf42 (5p13.2)

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)C5orf42   25801
Cards
Entrez_Gene (NCBI)C5orf42  65250  chromosome 5 open reading frame 42
AliasesHug; JBTS17; OFD6
GeneCards (Weizmann)C5orf42
Ensembl hg19 (Hinxton)ENSG00000197603 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197603 [Gene_View]  chr5:37106228-37249428 [Contig_View]  C5orf42 [Vega]
ICGC DataPortalENSG00000197603
TCGA cBioPortalC5orf42
AceView (NCBI)C5orf42
Genatlas (Paris)C5orf42
WikiGenes65250
SOURCE (Princeton)C5orf42
Genetics Home Reference (NIH)C5orf42
Genomic and cartography
GoldenPath hg38 (UCSC)C5orf42  -     chr5:37106228-37249428 -  5p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C5orf42  -     5p13.2   [Description]    (hg19-Feb_2009)
EnsemblC5orf42 - 5p13.2 [CytoView hg19]  C5orf42 - 5p13.2 [CytoView hg38]
Mapping of homologs : NCBIC5orf42 [Mapview hg19]  C5orf42 [Mapview hg38]
OMIM277170   614571   614615   
Gene and transcription
Genbank (Entrez)AK022380 AK023293 AK024779 AK026735 AK055192
RefSeq transcript (Entrez)NM_023073
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C5orf42
Cluster EST : UnigeneHs.634653 [ NCBI ]
CGAP (NCI)Hs.634653
Alternative Splicing GalleryENSG00000197603
Gene ExpressionC5orf42 [ NCBI-GEO ]   C5orf42 [ EBI - ARRAY_EXPRESS ]   C5orf42 [ SEEK ]   C5orf42 [ MEM ]
Gene Expression Viewer (FireBrowse)C5orf42 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65250
GTEX Portal (Tissue expression)C5orf42
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H799   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H799  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H799
Splice isoforms : SwissVarQ9H799
PhosPhoSitePlusQ9H799
Domains : Interpro (EBI)JBTS17   
Domain families : Pfam (Sanger)Joubert (PF15392)   
Domain families : Pfam (NCBI)pfam15392   
Conserved Domain (NCBI)C5orf42
DMDM Disease mutations65250
Blocks (Seattle)C5orf42
SuperfamilyQ9H799
Human Protein AtlasENSG00000197603
Peptide AtlasQ9H799
HPRD07822
IPIIPI00872724   IPI00395010   IPI00890819   IPI01026574   IPI00953099   IPI00011986   IPI00965700   
Protein Interaction databases
DIP (DOE-UCLA)Q9H799
IntAct (EBI)Q9H799
FunCoupENSG00000197603
BioGRIDC5orf42
STRING (EMBL)C5orf42
ZODIACC5orf42
Ontologies - Pathways
QuickGOQ9H799
Ontology : AmiGOestablishment of planar polarity  kidney development  ventricular septum development  integral component of membrane  cerebellum development  ciliary transition zone  embryonic digit morphogenesis  palate development  cilium assembly  coronary vasculature development  protein localization to ciliary transition zone  
Ontology : EGO-EBIestablishment of planar polarity  kidney development  ventricular septum development  integral component of membrane  cerebellum development  ciliary transition zone  embryonic digit morphogenesis  palate development  cilium assembly  coronary vasculature development  protein localization to ciliary transition zone  
NDEx NetworkC5orf42
Atlas of Cancer Signalling NetworkC5orf42
Wikipedia pathwaysC5orf42
Orthology - Evolution
OrthoDB65250
GeneTree (enSembl)ENSG00000197603
Phylogenetic Trees/Animal Genes : TreeFamC5orf42
HOVERGENQ9H799
HOGENOMQ9H799
Homologs : HomoloGeneC5orf42
Homology/Alignments : Family Browser (UCSC)C5orf42
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC5orf42 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C5orf42
dbVarC5orf42
ClinVarC5orf42
1000_GenomesC5orf42 
Exome Variant ServerC5orf42
ExAC (Exome Aggregation Consortium)C5orf42 (select the gene name)
Genetic variants : HAPMAP65250
Genomic Variants (DGV)C5orf42 [DGVbeta]
DECIPHERC5orf42 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC5orf42 
Mutations
ICGC Data PortalC5orf42 
TCGA Data PortalC5orf42 
Broad Tumor PortalC5orf42
OASIS PortalC5orf42 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC5orf42  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC5orf42
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)LOVD - Leiden Open Variation Database
BioMutasearch C5orf42
DgiDB (Drug Gene Interaction Database)C5orf42
DoCM (Curated mutations)C5orf42 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C5orf42 (select a term)
intoGenC5orf42
Cancer3DC5orf42(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM277170    614571    614615   
Orphanet
MedgenC5orf42
Genetic Testing Registry C5orf42
NextProtQ9H799 [Medical]
TSGene65250
GENETestsC5orf42
Target ValidationC5orf42
Huge Navigator C5orf42 [HugePedia]
snp3D : Map Gene to Disease65250
BioCentury BCIQC5orf42
ClinGenC5orf42
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD65250
Chemical/Pharm GKB GenePA162380188
Clinical trialC5orf42
Miscellaneous
canSAR (ICR)C5orf42 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC5orf42
EVEXC5orf42
GoPubMedC5orf42
iHOPC5orf42
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 15:41:21 CEST 2017

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