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C9orf50 (chromosome 9 open reading frame 50)

Identity

Alias_symbol (synonym)FLJ35803
Other alias-
HGNC (Hugo) C9orf50
LocusID (NCBI) 375759
Atlas_Id 61324
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 129612225 and ends at 129620776 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)

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)C9orf50   23677
Cards
Entrez_Gene (NCBI)C9orf50  375759  chromosome 9 open reading frame 50
Aliases
GeneCards (Weizmann)C9orf50
Ensembl hg19 (Hinxton)ENSG00000179058 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000179058 [Gene_View]  chr9:129612225-129620776 [Contig_View]  C9orf50 [Vega]
ICGC DataPortalENSG00000179058
TCGA cBioPortalC9orf50
AceView (NCBI)C9orf50
Genatlas (Paris)C9orf50
WikiGenes375759
SOURCE (Princeton)C9orf50
Genetics Home Reference (NIH)C9orf50
Genomic and cartography
GoldenPath hg38 (UCSC)C9orf50  -     chr9:129612225-129620776 -  9q34.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C9orf50  -     9q34.11   [Description]    (hg19-Feb_2009)
EnsemblC9orf50 - 9q34.11 [CytoView hg19]  C9orf50 - 9q34.11 [CytoView hg38]
Mapping of homologs : NCBIC9orf50 [Mapview hg19]  C9orf50 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK093122 AW468767 AW958564 AW958565 BC112353
RefSeq transcript (Entrez)NM_199350
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C9orf50
Cluster EST : UnigeneHs.124223 [ NCBI ]
CGAP (NCI)Hs.124223
Alternative Splicing GalleryENSG00000179058
Gene ExpressionC9orf50 [ NCBI-GEO ]   C9orf50 [ EBI - ARRAY_EXPRESS ]   C9orf50 [ SEEK ]   C9orf50 [ MEM ]
Gene Expression Viewer (FireBrowse)C9orf50 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)375759
GTEX Portal (Tissue expression)C9orf50
Human Protein AtlasENSG00000179058-C9orf50 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5SZB4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5SZB4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5SZB4
Splice isoforms : SwissVarQ5SZB4
PhosPhoSitePlusQ5SZB4
Domains : Interpro (EBI)DUF4685   
Domain families : Pfam (Sanger)DUF4685 (PF15737)   
Domain families : Pfam (NCBI)pfam15737   
Conserved Domain (NCBI)C9orf50
DMDM Disease mutations375759
Blocks (Seattle)C9orf50
SuperfamilyQ5SZB4
Human Protein Atlas [tissue]ENSG00000179058-C9orf50 [tissue]
Peptide AtlasQ5SZB4
HPRD14197
IPIIPI00374540   
Protein Interaction databases
DIP (DOE-UCLA)Q5SZB4
IntAct (EBI)Q5SZB4
FunCoupENSG00000179058
BioGRIDC9orf50
STRING (EMBL)C9orf50
ZODIACC9orf50
Ontologies - Pathways
QuickGOQ5SZB4
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkC9orf50
Atlas of Cancer Signalling NetworkC9orf50
Wikipedia pathwaysC9orf50
Orthology - Evolution
OrthoDB375759
GeneTree (enSembl)ENSG00000179058
Phylogenetic Trees/Animal Genes : TreeFamC9orf50
HOVERGENQ5SZB4
HOGENOMQ5SZB4
Homologs : HomoloGeneC9orf50
Homology/Alignments : Family Browser (UCSC)C9orf50
Gene fusions - Rearrangements
Tumor Fusion PortalC9orf50
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC9orf50 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C9orf50
dbVarC9orf50
ClinVarC9orf50
1000_GenomesC9orf50 
Exome Variant ServerC9orf50
ExAC (Exome Aggregation Consortium)ENSG00000179058
GNOMAD BrowserENSG00000179058
Genetic variants : HAPMAP375759
Genomic Variants (DGV)C9orf50 [DGVbeta]
DECIPHERC9orf50 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC9orf50 
Mutations
ICGC Data PortalC9orf50 
TCGA Data PortalC9orf50 
Broad Tumor PortalC9orf50
OASIS PortalC9orf50 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC9orf50  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC9orf50
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 C9orf50
DgiDB (Drug Gene Interaction Database)C9orf50
DoCM (Curated mutations)C9orf50 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C9orf50 (select a term)
intoGenC9orf50
Cancer3DC9orf50(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETC9orf50
MedgenC9orf50
Genetic Testing Registry C9orf50
NextProtQ5SZB4 [Medical]
TSGene375759
GENETestsC9orf50
Target ValidationC9orf50
Huge Navigator C9orf50 [HugePedia]
snp3D : Map Gene to Disease375759
BioCentury BCIQC9orf50
ClinGenC9orf50
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD375759
Chemical/Pharm GKB GenePA142672314
Clinical trialC9orf50
Miscellaneous
canSAR (ICR)C9orf50 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC9orf50
EVEXC9orf50
GoPubMedC9orf50
iHOPC9orf50
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 : Tue Nov 21 13:19:27 CET 2017

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