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C7orf49 (chromosome 7 open reading frame 49)

Identity

Alias_symbol (synonym)MGC5242
FLJ27285
FLJ22450
MRI
Other aliasMRI-2
HGNC (Hugo) C7orf49
LocusID (NCBI) 78996
Atlas_Id 56116
Location 7q33  [Link to chromosome band 7q33]
Location_base_pair Starts at 135165780 and ends at 135170826 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C7orf49 (7q33) / C7orf49 (7q33)C7orf49 (7q33) / KIF5B (10p11.22)C7orf49 (7q33) / LOC653739 ()
SPINT1 (15q15.1) / C7orf49 (7q33)

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)C7orf49   22432
Cards
Entrez_Gene (NCBI)C7orf49  78996  chromosome 7 open reading frame 49
AliasesMRI; MRI-2
GeneCards (Weizmann)C7orf49
Ensembl hg19 (Hinxton)ENSG00000122783 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122783 [Gene_View]  chr7:135165780-135170826 [Contig_View]  C7orf49 [Vega]
ICGC DataPortalENSG00000122783
TCGA cBioPortalC7orf49
AceView (NCBI)C7orf49
Genatlas (Paris)C7orf49
WikiGenes78996
SOURCE (Princeton)C7orf49
Genetics Home Reference (NIH)C7orf49
Genomic and cartography
GoldenPath hg38 (UCSC)C7orf49  -     chr7:135165780-135170826 -  7q33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C7orf49  -     7q33   [Description]    (hg19-Feb_2009)
EnsemblC7orf49 - 7q33 [CytoView hg19]  C7orf49 - 7q33 [CytoView hg38]
Mapping of homologs : NCBIC7orf49 [Mapview hg19]  C7orf49 [Mapview hg38]
OMIM616980   
Gene and transcription
Genbank (Entrez)AI335567 AI632984 AK026103 AK130795 AL708733
RefSeq transcript (Entrez)NM_001243749 NM_001243751 NM_001243752 NM_001243753 NM_001243754 NM_001243755 NM_001305629 NM_001305630 NM_024033
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C7orf49
Cluster EST : UnigeneHs.744954 [ NCBI ]
CGAP (NCI)Hs.744954
Alternative Splicing GalleryENSG00000122783
Gene ExpressionC7orf49 [ NCBI-GEO ]   C7orf49 [ EBI - ARRAY_EXPRESS ]   C7orf49 [ SEEK ]   C7orf49 [ MEM ]
Gene Expression Viewer (FireBrowse)C7orf49 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)78996
GTEX Portal (Tissue expression)C7orf49
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BWK5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BWK5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BWK5
Splice isoforms : SwissVarQ9BWK5
PhosPhoSitePlusQ9BWK5
Domains : Interpro (EBI)MRI   
Domain families : Pfam (Sanger)MRI (PF15325)   
Domain families : Pfam (NCBI)pfam15325   
Conserved Domain (NCBI)C7orf49
DMDM Disease mutations78996
Blocks (Seattle)C7orf49
SuperfamilyQ9BWK5
Human Protein AtlasENSG00000122783
Peptide AtlasQ9BWK5
HPRD08333
IPIIPI00031497   IPI00884895   IPI00884968   IPI00942066   
Protein Interaction databases
DIP (DOE-UCLA)Q9BWK5
IntAct (EBI)Q9BWK5
FunCoupENSG00000122783
BioGRIDC7orf49
STRING (EMBL)C7orf49
ZODIACC7orf49
Ontologies - Pathways
QuickGOQ9BWK5
Ontology : AmiGOprotein binding  nucleus  cytoplasm  double-strand break repair via nonhomologous end joining  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  double-strand break repair via nonhomologous end joining  
NDEx NetworkC7orf49
Atlas of Cancer Signalling NetworkC7orf49
Wikipedia pathwaysC7orf49
Orthology - Evolution
OrthoDB78996
GeneTree (enSembl)ENSG00000122783
Phylogenetic Trees/Animal Genes : TreeFamC7orf49
HOVERGENQ9BWK5
HOGENOMQ9BWK5
Homologs : HomoloGeneC7orf49
Homology/Alignments : Family Browser (UCSC)C7orf49
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC7orf49 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C7orf49
dbVarC7orf49
ClinVarC7orf49
1000_GenomesC7orf49 
Exome Variant ServerC7orf49
ExAC (Exome Aggregation Consortium)C7orf49 (select the gene name)
Genetic variants : HAPMAP78996
Genomic Variants (DGV)C7orf49 [DGVbeta]
DECIPHERC7orf49 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC7orf49 
Mutations
ICGC Data PortalC7orf49 
TCGA Data PortalC7orf49 
Broad Tumor PortalC7orf49
OASIS PortalC7orf49 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC7orf49  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC7orf49
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch C7orf49
DgiDB (Drug Gene Interaction Database)C7orf49
DoCM (Curated mutations)C7orf49 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C7orf49 (select a term)
intoGenC7orf49
Cancer3DC7orf49(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616980   
Orphanet
MedgenC7orf49
Genetic Testing Registry C7orf49
NextProtQ9BWK5 [Medical]
TSGene78996
GENETestsC7orf49
Target ValidationC7orf49
Huge Navigator C7orf49 [HugePedia]
snp3D : Map Gene to Disease78996
BioCentury BCIQC7orf49
ClinGenC7orf49
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD78996
Chemical/Pharm GKB GenePA162380533
Clinical trialC7orf49
Miscellaneous
canSAR (ICR)C7orf49 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC7orf49
EVEXC7orf49
GoPubMedC7orf49
iHOPC7orf49
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 16:56:34 CEST 2017

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