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C9orf43 (chromosome 9 open reading frame 43)

Identity

Alias_symbol (synonym)MGC17358
Other alias-
HGNC (Hugo) C9orf43
LocusID (NCBI) 257169
Atlas_Id 61322
Location 9q32  [Link to chromosome band 9q32]
Location_base_pair Starts at 113410644 and ends at 113429684 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SMCP (1q21.3) / C9orf43 (9q32)

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)C9orf43   23570
Cards
Entrez_Gene (NCBI)C9orf43  257169  chromosome 9 open reading frame 43
Aliases
GeneCards (Weizmann)C9orf43
Ensembl hg19 (Hinxton)ENSG00000157653 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157653 [Gene_View]  chr9:113410644-113429684 [Contig_View]  C9orf43 [Vega]
ICGC DataPortalENSG00000157653
TCGA cBioPortalC9orf43
AceView (NCBI)C9orf43
Genatlas (Paris)C9orf43
WikiGenes257169
SOURCE (Princeton)C9orf43
Genetics Home Reference (NIH)C9orf43
Genomic and cartography
GoldenPath hg38 (UCSC)C9orf43  -     chr9:113410644-113429684 +  9q32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C9orf43  -     9q32   [Description]    (hg19-Feb_2009)
EnsemblC9orf43 - 9q32 [CytoView hg19]  C9orf43 - 9q32 [CytoView hg38]
Mapping of homologs : NCBIC9orf43 [Mapview hg19]  C9orf43 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK301872 AK313867 BC026884 BC033037 DB048582
RefSeq transcript (Entrez)NM_001278629 NM_001278630 NM_152786
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C9orf43
Cluster EST : UnigeneHs.632691 [ NCBI ]
CGAP (NCI)Hs.632691
Alternative Splicing GalleryENSG00000157653
Gene ExpressionC9orf43 [ NCBI-GEO ]   C9orf43 [ EBI - ARRAY_EXPRESS ]   C9orf43 [ SEEK ]   C9orf43 [ MEM ]
Gene Expression Viewer (FireBrowse)C9orf43 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)257169
GTEX Portal (Tissue expression)C9orf43
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TAL5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TAL5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TAL5
Splice isoforms : SwissVarQ8TAL5
PhosPhoSitePlusQ8TAL5
Domains : Interpro (EBI)DUF4647   
Domain families : Pfam (Sanger)DUF4647 (PF15504)   
Domain families : Pfam (NCBI)pfam15504   
Domain structure : Prodom (Prabi Lyon)PD575093 (PD575093)   
Conserved Domain (NCBI)C9orf43
DMDM Disease mutations257169
Blocks (Seattle)C9orf43
SuperfamilyQ8TAL5
Human Protein AtlasENSG00000157653
Peptide AtlasQ8TAL5
HPRD12959
IPIIPI00152071   
Protein Interaction databases
DIP (DOE-UCLA)Q8TAL5
IntAct (EBI)Q8TAL5
FunCoupENSG00000157653
BioGRIDC9orf43
STRING (EMBL)C9orf43
ZODIACC9orf43
Ontologies - Pathways
QuickGOQ8TAL5
Ontology : AmiGOprotein binding  
Ontology : EGO-EBIprotein binding  
NDEx NetworkC9orf43
Atlas of Cancer Signalling NetworkC9orf43
Wikipedia pathwaysC9orf43
Orthology - Evolution
OrthoDB257169
GeneTree (enSembl)ENSG00000157653
Phylogenetic Trees/Animal Genes : TreeFamC9orf43
HOVERGENQ8TAL5
HOGENOMQ8TAL5
Homologs : HomoloGeneC9orf43
Homology/Alignments : Family Browser (UCSC)C9orf43
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC9orf43 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C9orf43
dbVarC9orf43
ClinVarC9orf43
1000_GenomesC9orf43 
Exome Variant ServerC9orf43
ExAC (Exome Aggregation Consortium)C9orf43 (select the gene name)
Genetic variants : HAPMAP257169
Genomic Variants (DGV)C9orf43 [DGVbeta]
DECIPHERC9orf43 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC9orf434font$sIze=-2> 
Mutations
ICGC Data PortalC9orf43 
TCGA Data PortalC9orf43 
Broad Tumor PortalC9orf43
OASIS PortalC9orf43 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC9orf43  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC9orf43
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 C9orf43
DgiDB (Drug Gene Interaction Database)C9orf43
DoCM (Curated mutations)C9orf43 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C9orf43 (select a term)
intoGenC9orf43
Cancer3DC9orf43(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenC9orf43
Genetic Testing Registry C9orf43
NextProtQ8TAL5 [Medical]
TSGene257169
GENETestsC9orf43
Target ValidationC9orf43
Huge Navigator C9orf43 [HugePedia]
snp3D : Map Gene to Disease257169
BioCentury BCIQC9orf43
ClinGenC9orf43
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD257169
Chemical/Pharm GKB GenePA134972642
Clinical trialC9orf43
Miscellaneous
canSAR (ICR)C9orf43 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC9orf43
EVEXC9orf43
GoPubMedC9orf43
iHOPC9orf43
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:03:39 CEST 2017

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