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C5orf46 (chromosome 5 open reading frame 46)

Identity

Alias_symbol (synonym)MGC23985
SSSP1
Other alias
HGNC (Hugo) C5orf46
LocusID (NCBI) 389336
Atlas_Id 61218
Location 5q32  [Link to chromosome band 5q32]
Location_base_pair Starts at 147892708 and ends at 147906538 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C5orf46 (5q32) / SPINK1 (5q32)

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)C5orf46   33768
Cards
Entrez_Gene (NCBI)C5orf46  389336  chromosome 5 open reading frame 46
AliasesSSSP1
GeneCards (Weizmann)C5orf46
Ensembl hg19 (Hinxton)ENSG00000178776 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178776 [Gene_View]  chr5:147892708-147906538 [Contig_View]  C5orf46 [Vega]
ICGC DataPortalENSG00000178776
TCGA cBioPortalC5orf46
AceView (NCBI)C5orf46
Genatlas (Paris)C5orf46
WikiGenes389336
SOURCE (Princeton)C5orf46
Genetics Home Reference (NIH)C5orf46
Genomic and cartography
GoldenPath hg38 (UCSC)C5orf46  -     chr5:147892708-147906538 -  5q32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C5orf46  -     5q32   [Description]    (hg19-Feb_2009)
EnsemblC5orf46 - 5q32 [CytoView hg19]  C5orf46 - 5q32 [CytoView hg38]
Mapping of homologs : NCBIC5orf46 [Mapview hg19]  C5orf46 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK289403 AY358656 BC021680 JF432840
RefSeq transcript (Entrez)NM_206966
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C5orf46
Cluster EST : UnigeneHs.660038 [ NCBI ]
CGAP (NCI)Hs.660038
Alternative Splicing GalleryENSG00000178776
Gene ExpressionC5orf46 [ NCBI-GEO ]   C5orf46 [ EBI - ARRAY_EXPRESS ]   C5orf46 [ SEEK ]   C5orf46 [ MEM ]
Gene Expression Viewer (FireBrowse)C5orf46 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)389336
GTEX Portal (Tissue expression)C5orf46
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UWT4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UWT4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UWT4
Splice isoforms : SwissVarQ6UWT4
PhosPhoSitePlusQ6UWT4
Domains : Interpro (EBI)DUF4576   
Domain families : Pfam (Sanger)DUF4576 (PF15144)   
Domain families : Pfam (NCBI)pfam15144   
Conserved Domain (NCBI)C5orf46
DMDM Disease mutations389336
Blocks (Seattle)C5orf46
SuperfamilyQ6UWT4
Human Protein AtlasENSG00000178776
Peptide AtlasQ6UWT4
HPRD14491
IPIIPI00410155   IPI00885053   
Protein Interaction databases
DIP (DOE-UCLA)Q6UWT4
IntAct (EBI)Q6UWT4
FunCoupENSG00000178776
BioGRIDC5orf46
STRING (EMBL)C5orf46
ZODIACC5orf46
Ontologies - Pathways
QuickGOQ6UWT4
Ontology : AmiGOmolecular_function  biological_process  extracellular exosome  
Ontology : EGO-EBImolecular_function  biological_process  extracellular exosome  
NDEx NetworkC5orf46
Atlas of Cancer Signalling NetworkC5orf46
Wikipedia pathwaysC5orf46
Orthology - Evolution
OrthoDB389336
GeneTree (enSembl)ENSG00000178776
Phylogenetic Trees/Animal Genes : TreeFamC5orf46
HOVERGENQ6UWT4
HOGENOMQ6UWT4
Homologs : HomoloGeneC5orf46
Homology/Alignments : Family Browser (UCSC)C5orf46
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC5orf46 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C5orf46
dbVarC5orf46
ClinVarC5orf46
1000_GenomesC5orf46 
Exome Variant ServerC5orf46
ExAC (Exome Aggregation Consortium)C5orf46 (select the gene name)
Genetic variants : HAPMAP389336
Genomic Variants (DGV)C5orf46 [DGVbeta]
DECIPHERC5orf46 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC5orf46 
Mutations
ICGC Data PortalC5orf46 
TCGA Data PortalC5orf46 
Broad Tumor PortalC5orf46
OASIS PortalC5orf46 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC5orf46  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC5orf46
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 C5orf46
DgiDB (Drug Gene Interaction Database)C5orf46
DoCM (Curated mutations)C5orf46 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C5orf46 (select a term)
intoGenC5orf46
Cancer3DC5orf46(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenC5orf46
Genetic Testing Registry C5orf46
NextProtQ6UWT4 [Medical]
TSGene389336
GENETestsC5orf46
Target ValidationC5orf46
Huge Navigator C5orf46 [HugePedia]
snp3D : Map Gene to Disease389336
BioCentury BCIQC5orf46
ClinGenC5orf46
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD389336
Chemical/Pharm GKB GenePA162380305
Clinical trialC5orf46
Miscellaneous
canSAR (ICR)C5orf46 (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC5orf46
EVEXC5orf46
GoPubMedC5orf46
iHOPC5orf46
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 15:41:22 CEST 2017

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