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FAM53C (family with sequence similarity 53 member C)

Identity

Alias_namesC5orf6
chromosome 5 open reading frame 6
family with sequence similarity 53, member C
Other alias
HGNC (Hugo) FAM53C
LocusID (NCBI) 51307
Atlas_Id 63211
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 138337535 and ends at 138349729 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACTR1B (2q11.2) / FAM53C (5q31.2)FAM53C (5q31.2) / FAM53C (5q31.2)HARS (5q31.3) / FAM53C (5q31.2)

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)FAM53C   1336
Cards
Entrez_Gene (NCBI)FAM53C  51307  family with sequence similarity 53 member C
AliasesC5orf6
GeneCards (Weizmann)FAM53C
Ensembl hg19 (Hinxton)ENSG00000120709 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120709 [Gene_View]  chr5:138337535-138349729 [Contig_View]  FAM53C [Vega]
ICGC DataPortalENSG00000120709
TCGA cBioPortalFAM53C
AceView (NCBI)FAM53C
Genatlas (Paris)FAM53C
WikiGenes51307
SOURCE (Princeton)FAM53C
Genetics Home Reference (NIH)FAM53C
Genomic and cartography
GoldenPath hg38 (UCSC)FAM53C  -     chr5:138337535-138349729 +  5q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAM53C  -     5q31.2   [Description]    (hg19-Feb_2009)
EnsemblFAM53C - 5q31.2 [CytoView hg19]  FAM53C - 5q31.2 [CytoView hg38]
Mapping of homologs : NCBIFAM53C [Mapview hg19]  FAM53C [Mapview hg38]
OMIM609372   
Gene and transcription
Genbank (Entrez)AF251040 AK026729 AK027412 AK310378 AK315567
RefSeq transcript (Entrez)NM_001135647 NM_001350194 NM_001350195 NM_016605
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FAM53C
Cluster EST : UnigeneHs.54056 [ NCBI ]
CGAP (NCI)Hs.54056
Alternative Splicing GalleryENSG00000120709
Gene ExpressionFAM53C [ NCBI-GEO ]   FAM53C [ EBI - ARRAY_EXPRESS ]   FAM53C [ SEEK ]   FAM53C [ MEM ]
Gene Expression Viewer (FireBrowse)FAM53C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51307
GTEX Portal (Tissue expression)FAM53C
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NYF3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NYF3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NYF3
Splice isoforms : SwissVarQ9NYF3
PhosPhoSitePlusQ9NYF3
Domains : Interpro (EBI)FAM53   
Domain families : Pfam (Sanger)FAM53 (PF15242)   
Domain families : Pfam (NCBI)pfam15242   
Conserved Domain (NCBI)FAM53C
DMDM Disease mutations51307
Blocks (Seattle)FAM53C
SuperfamilyQ9NYF3
Human Protein AtlasENSG00000120709
Peptide AtlasQ9NYF3
HPRD10785
IPIIPI00009900   IPI00966903   IPI00967188   
Protein Interaction databases
DIP (DOE-UCLA)Q9NYF3
IntAct (EBI)Q9NYF3
FunCoupENSG00000120709
BioGRIDFAM53C
STRING (EMBL)FAM53C
ZODIACFAM53C
Ontologies - Pathways
QuickGOQ9NYF3
Ontology : AmiGOprotein binding  
Ontology : EGO-EBIprotein binding  
NDEx NetworkFAM53C
Atlas of Cancer Signalling NetworkFAM53C
Wikipedia pathwaysFAM53C
Orthology - Evolution
OrthoDB51307
GeneTree (enSembl)ENSG00000120709
Phylogenetic Trees/Animal Genes : TreeFamFAM53C
HOVERGENQ9NYF3
HOGENOMQ9NYF3
Homologs : HomoloGeneFAM53C
Homology/Alignments : Family Browser (UCSC)FAM53C
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM53C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM53C
dbVarFAM53C
ClinVarFAM53C
1000_GenomesFAM53C 
Exome Variant ServerFAM53C
ExAC (Exome Aggregation Consortium)FAM53C (select the gene name)
Genetic variants : HAPMAP51307
Genomic Variants (DGV)FAM53C [DGVbeta]
DECIPHERFAM53C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFAM53C 
Mutations
ICGC Data PortalFAM53C 
TCGA Data PortalFAM53C 
Broad Tumor PortalFAM53C
OASIS PortalFAM53C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAM53C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFAM53C
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch FAM53C
DgiDB (Drug Gene Interaction Database)FAM53C
DoCM (Curated mutations)FAM53C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAM53C (select a term)
intoGenFAM53C
Cancer3DFAM53C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609372   
Orphanet
MedgenFAM53C
Genetic Testing Registry FAM53C
NextProtQ9NYF3 [Medical]
TSGene51307
GENETestsFAM53C
Target ValidationFAM53C
Huge Navigator FAM53C [HugePedia]
snp3D : Map Gene to Disease51307
BioCentury BCIQFAM53C
ClinGenFAM53C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51307
Chemical/Pharm GKB GenePA25917
Clinical trialFAM53C
Miscellaneous
canSAR (ICR)FAM53C (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFAM53C
EVEXFAM53C
GoPubMedFAM53C
iHOPFAM53C
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 13:08:07 CEST 2017

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