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C17orf53 (chromosome 17 open reading frame 53)

Identity

Alias_symbol (synonym)MGC3130
Other alias-
HGNC (Hugo) C17orf53
LocusID (NCBI) 78995
Atlas_Id 60993
Location 17q21.31  [Link to chromosome band 17q21]
Location_base_pair Starts at 44141902 and ends at 44162476 bp from pter ( according to hg38-Dec_2013)

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)C17orf53   28460
Cards
Entrez_Gene (NCBI)C17orf53  78995  chromosome 17 open reading frame 53
Aliases
GeneCards (Weizmann)C17orf53
Ensembl hg19 (Hinxton)ENSG00000125319 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125319 [Gene_View]  chr17:44141902-44162476 [Contig_View]  C17orf53 [Vega]
ICGC DataPortalENSG00000125319
TCGA cBioPortalC17orf53
AceView (NCBI)C17orf53
Genatlas (Paris)C17orf53
WikiGenes78995
SOURCE (Princeton)C17orf53
Genetics Home Reference (NIH)C17orf53
Genomic and cartography
GoldenPath hg38 (UCSC)C17orf53  -     chr17:44141902-44162476 +  17q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C17orf53  -     17q21.31   [Description]    (hg19-Feb_2009)
EnsemblC17orf53 - 17q21.31 [CytoView hg19]  C17orf53 - 17q21.31 [CytoView hg38]
Mapping of homologs : NCBIC17orf53 [Mapview hg19]  C17orf53 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK021656 AK291924 AL834295 BC000121 BI829278
RefSeq transcript (Entrez)NM_001171251 NM_001321310 NM_001321311 NM_024032
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C17orf53
Cluster EST : UnigeneHs.437059 [ NCBI ]
CGAP (NCI)Hs.437059
Alternative Splicing GalleryENSG00000125319
Gene ExpressionC17orf53 [ NCBI-GEO ]   C17orf53 [ EBI - ARRAY_EXPRESS ]   C17orf53 [ SEEK ]   C17orf53 [ MEM ]
Gene Expression Viewer (FireBrowse)C17orf53 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)78995
GTEX Portal (Tissue expression)C17orf53
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N3J3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N3J3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N3J3
Splice isoforms : SwissVarQ8N3J3
PhosPhoSitePlusQ8N3J3
Domains : Interpro (EBI)DUF4539   
Domain families : Pfam (Sanger)DUF4539 (PF15072)   
Domain families : Pfam (NCBI)pfam15072   
Conserved Domain (NCBI)C17orf53
DMDM Disease mutations78995
Blocks (Seattle)C17orf53
SuperfamilyQ8N3J3
Human Protein AtlasENSG00000125319
Peptide AtlasQ8N3J3
HPRD08825
IPIIPI00386891   IPI00847270   IPI00414932   IPI00953132   IPI00954862   
Protein Interaction databases
DIP (DOE-UCLA)Q8N3J3
IntAct (EBI)Q8N3J3
FunCoupENSG00000125319
BioGRIDC17orf53
STRING (EMBL)C17orf53
ZODIACC17orf53
Ontologies - Pathways
QuickGOQ8N3J3
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkC17orf53
Atlas of Cancer Signalling NetworkC17orf53
Wikipedia pathwaysC17orf53
Orthology - Evolution
OrthoDB78995
GeneTree (enSembl)ENSG00000125319
Phylogenetic Trees/Animal Genes : TreeFamC17orf53
HOVERGENQ8N3J3
HOGENOMQ8N3J3
Homologs : HomoloGeneC17orf53
Homology/Alignments : Family Browser (UCSC)C17orf53
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC17orf53 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C17orf53
dbVarC17orf53
ClinVarC17orf53
1000_GenomesC17orf53 
Exome Variant ServerC17orf53
ExAC (Exome Aggregation Consortium)C17orf53 (select the gene name)
Genetic variants : HAPMAP78995
Genomic Variants (DGV)C17orf53 [DGVbeta]
DECIPHERC17orf53 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC17orf53 
Mutations
ICGC Data PortalC17orf53 
TCGA Data PortalC17orf53 
Broad Tumor PortalC17orf53
OASIS PortalC17orf53 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC17orf53  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC17orf53
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 C17orf53
DgiDB (Drug Gene Interaction Database)C17orf53
DoCM (Curated mutations)C17orf53 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C17orf53 (select a term)
intoGenC17orf53
Cancer3DC17orf53(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenC17orf53
Genetic Testing Registry C17orf53
NextProtQ8N3J3 [Medical]
TSGene78995
GENETestsC17orf53
Target ValidationC17orf53
Huge Navigator C17orf53 [HugePedia]
snp3D : Map Gene to Disease78995
BioCentury BCIQC17orf53
ClinGenC17orf53
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD78995
Chemical/Pharm GKB GenePA142672236
Clinical trialC17orf53
Miscellaneous
canSAR (ICR)C17orf53 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC17orf53
EVEXC17orf53
GoPubMedC17orf53
iHOPC17orf53
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:10:39 CEST 2017

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