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C9orf72 (chromosome 9 open reading frame 72)

Identity

Alias_symbol (synonym)MGC23980
DENNL72
Other aliasALSFTD
FTDALS
FTDALS1
HGNC (Hugo) C9orf72
LocusID (NCBI) 203228
Atlas_Id 61330
Location 9p21.2  [Link to chromosome band 9p21]
Location_base_pair Starts at 27546546 and ends at 27573866 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C9orf72 (9p21.2) / C9orf72 (9p21.2)C9orf72 (9p21.2) / GMCL1 (2p13.3)

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)C9orf72   28337
LRG (Locus Reference Genomic)LRG_658
Cards
Entrez_Gene (NCBI)C9orf72  203228  chromosome 9 open reading frame 72
AliasesALSFTD; DENNL72; FTDALS; FTDALS1
GeneCards (Weizmann)C9orf72
Ensembl hg19 (Hinxton)ENSG00000147894 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147894 [Gene_View]  chr9:27546546-27573866 [Contig_View]  C9orf72 [Vega]
ICGC DataPortalENSG00000147894
TCGA cBioPortalC9orf72
AceView (NCBI)C9orf72
Genatlas (Paris)C9orf72
WikiGenes203228
SOURCE (Princeton)C9orf72
Genetics Home Reference (NIH)C9orf72
Genomic and cartography
GoldenPath hg38 (UCSC)C9orf72  -     chr9:27546546-27573866 -  9p21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C9orf72  -     9p21.2   [Description]    (hg19-Feb_2009)
EnsemblC9orf72 - 9p21.2 [CytoView hg19]  C9orf72 - 9p21.2 [CytoView hg38]
Mapping of homologs : NCBIC9orf72 [Mapview hg19]  C9orf72 [Mapview hg38]
OMIM105550   614260   
Gene and transcription
Genbank (Entrez)AI141996 AK001971 AK057806 AK291425 AL832229
RefSeq transcript (Entrez)NM_001256054 NM_018325 NM_145005
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C9orf72
Cluster EST : UnigeneHs.493639 [ NCBI ]
CGAP (NCI)Hs.493639
Alternative Splicing GalleryENSG00000147894
Gene ExpressionC9orf72 [ NCBI-GEO ]   C9orf72 [ EBI - ARRAY_EXPRESS ]   C9orf72 [ SEEK ]   C9orf72 [ MEM ]
Gene Expression Viewer (FireBrowse)C9orf72 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)203228
GTEX Portal (Tissue expression)C9orf72
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96LT7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96LT7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96LT7
Splice isoforms : SwissVarQ96LT7
PhosPhoSitePlusQ96LT7
Domains : Interpro (EBI)C9orf72-like   
Domain families : Pfam (Sanger)C9orf72-like (PF15019)   
Domain families : Pfam (NCBI)pfam15019   
Conserved Domain (NCBI)C9orf72
DMDM Disease mutations203228
Blocks (Seattle)C9orf72
SuperfamilyQ96LT7
Human Protein AtlasENSG00000147894
Peptide AtlasQ96LT7
HPRD12975
IPIIPI00375463   IPI00065258   
Protein Interaction databases
DIP (DOE-UCLA)Q96LT7
IntAct (EBI)Q96LT7
FunCoupENSG00000147894
BioGRIDC9orf72
STRING (EMBL)C9orf72
ZODIACC9orf72
Ontologies - Pathways
QuickGOQ96LT7
Ontology : AmiGOprotein binding  extracellular space  nucleus  cytoplasm  lysosome  endosome  autophagosome  endocytosis  autophagy  regulation of autophagy  positive regulation of macroautophagy  positive regulation of macroautophagy  Rab guanyl-nucleotide exchange factor activity  Rab GTPase binding  guanyl-nucleotide exchange factor complex  positive regulation of GTPase activity  regulation of TORC1 signaling  ATG1/ULK1 kinase complex  
Ontology : EGO-EBIprotein binding  extracellular space  nucleus  cytoplasm  lysosome  endosome  autophagosome  endocytosis  autophagy  regulation of autophagy  positive regulation of macroautophagy  positive regulation of macroautophagy  Rab guanyl-nucleotide exchange factor activity  Rab GTPase binding  guanyl-nucleotide exchange factor complex  positive regulation of GTPase activity  regulation of TORC1 signaling  ATG1/ULK1 kinase complex  
NDEx NetworkC9orf72
Atlas of Cancer Signalling NetworkC9orf72
Wikipedia pathwaysC9orf72
Orthology - Evolution
OrthoDB203228
GeneTree (enSembl)ENSG00000147894
Phylogenetic Trees/Animal Genes : TreeFamC9orf72
HOVERGENQ96LT7
HOGENOMQ96LT7
Homologs : HomoloGeneC9orf72
Homology/Alignments : Family Browser (UCSC)C9orf72
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC9orf72 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C9orf72
dbVarC9orf72
ClinVarC9orf72
1000_GenomesC9orf72 
Exome Variant ServerC9orf72
ExAC (Exome Aggregation Consortium)C9orf72 (select the gene name)
Genetic variants : HAPMAP203228
Genomic Variants (DGV)C9orf72 [DGVbeta]
DECIPHERC9orf72 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC9orf72 
Mutations
ICGC Data PortalC9orf72 
TCGA Data PortalC9orf72 
Broad Tumor PortalC9orf72
OASIS PortalC9orf72 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC9orf72  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC9orf72
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 C9orf72
DgiDB (Drug Gene Interaction Database)C9orf72
DoCM (Curated mutations)C9orf72 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C9orf72 (select a term)
intoGenC9orf72
Cancer3DC9orf72(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM105550    614260   
Orphanet
MedgenC9orf72
Genetic Testing Registry C9orf72
NextProtQ96LT7 [Medical]
TSGene203228
GENETestsC9orf72
Target ValidationC9orf72
Huge Navigator C9orf72 [HugePedia]
snp3D : Map Gene to Disease203228
BioCentury BCIQC9orf72
ClinGenC9orf72
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD203228
Chemical/Pharm GKB GenePA134908144
Clinical trialC9orf72
Miscellaneous
canSAR (ICR)C9orf72 (select the gene name)
Probes
Litterature
PubMed280 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC9orf72
EVEXC9orf72
GoPubMedC9orf72
iHOPC9orf72
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 15:41:46 CEST 2017

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