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C5orf30 (chromosome 5 open reading frame 30)

Identity

Alias_symbol (synonym)FLJ25291
Other alias-
HGNC (Hugo) C5orf30
LocusID (NCBI) 90355
Atlas_Id 61213
Location 5q21.1  [Link to chromosome band 5q21]
Location_base_pair Starts at 103259357 and ends at 103278660 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
C5orf30 (5q21.1) / PAM (5q21.1)TMEM50B (21q22.11) / C5orf30 (5q21.1)

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

>/TABME6
Nomenclature
HGNC (Hugo)C5orf30   25052
Cards
Entrez_Gene (NCBI)C5orf30  90355  chromosome 5 open reading frame 30
Aliases
GeneCards (Weizmann)C5orf30
Ensembl hg19 (Hinxton)ENSG00000181751 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181751 [Gene_View]  chr5:103259357-103278660 [Contig_View]  C5orf30 [Vega]
ICGC DataPortalENSG00000181751
TCGA cBioPortalC5orf30
AceView (NCBI)C5orf30
Genatlas (Paris)C5orf30
WikiGenes90355
SOURCE (Princeton)C5orf30
a hruf˝../extdef.html#GHR TARGET=GHR>Genetics Home Reference (NIH)C5orf30
Genomic and cartography
GoldenPath hg38 (UCSC)C5orf30  -     chr5:103259357-103278660 +  5q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C5orf30  -     5q21.1   [Description]    (hg19-Feb_2009)
EnsemblC5orf30 - 5q21.1 [CytoView hg19]  C5orf30 - 5q21.1 [CytoView hg38]
Mapping of homologs : NCBIC5orf30 [Mapview hg19]  C5orf30 [Mapview hg38]
OMIM616608   
Gene and transcription
Genbank (Entrez)AF038182 AK058020 AK090558 BC009203 BG722102
RefSeq transcript (Entrez)NM_001316968 NM_001316969 NM_033211
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C5orf30
Cluster EST : UnigeneHs.482976 [ NCBI ]
CGAP (NCI)Hs.482976
Alternative Splicing GalleryENSG00000181751
Gene ExpressionC5orf30 [ NCBI-GEO ]   C5orf30 [ EBI - ARRAY_EXPRESS ]   C5orf30 [ SEEK ]   C5orf30 [ MEM ]
Gene Expression Viewer (FireBrowse)C5orf30 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90355
GTEX Portal (Tissue expression)C5orf30
Human Protein AtlasENSG00000181751-C5orf30 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96GV9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96GV9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96GV9
Splice isoforms : SwissVarQ96GV9
PhosPhoSitePlusQ96GV9
Domains : Interpro (EBI)UNC119-bd   
Domain families : Pfam (Sanger)UNC119_bdg (PF15435)   
Domain families : Pfam (NCBI)pfam15435   
Conserved Domain (NCBI)C5orf30
DMDM Disease mutations90355
Blocks (Seattle)C5orf30
SuperfamilyQ96GV9
Human Protein Atlas [tissue]ENSG00000181751-C5orf30 [tissue]
Peptide AtlasQ96GV9
HPRD12383
IPIIPI00062814   
Protein Interaction databases
DIP (DOE-UCLA)Q96GV9
IntAct (EBI)Q96GV9
FunCoupENSG00000181751
BioGRIDC5orf30
STRING (EMBL)C5orf30
ZODIACC5orf30
Ontologies - Pathways
QuickGOQ96GV9
Ontology : AmiGOprotein binding  cytoplasm  negative regulation of fibroblast migration  protein transport  ciliary transition zone  cilium assembly  negative regulation of cytokine production involved in inflammatory response  
Ontology : EGO-EBIprotein binding  cytoplasm  negative regulation of fibroblast migration  protein transport  ciliary transition zone  cilium assembly  negative regulation of cytokine production involved in inflammatory response  
NDEx NetworkC5orf30
Atlas of Cancer Signalling NetworkC5orf30
Wikipedia pathwaysC5orf30
Orthology - Evolution
OrthoDB90355
GeneTree (enSembl)ENSG00000181751
Phylogenetic Trees/Animal Genes : TreeFamC5orf30
HOVERGENQ96GV9
HOGENOMQ96GV9
Homologs : HomoloGeneC5orf30
Homology/Alignments : Family Browser (UCSC)C5orf30
Gene fusions - Rearrangements
Tumor Fusion PortalC5orf30
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC5orf30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C5orf30
dbVarC5orf30
ClinVarC5orf30
1000_GenomesC5orf30 
Exome Variant ServerC5orf30
ExAC (Exome Aggregation Consortium)ENSG00000181751
GNOMAD BrowserENSG00000181751
Genetic variants : HAPMAP90355
Genomic Variants (DGV)C5orf30 [DGVbeta]
DECIPHERC5orf30 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC5orf30 
Mutations
ICGC Data PortalC5orf30 
TCGA Data PortalC5orf30 
Broad Tumor PortalC5orf30
OASIS PortalC5orf30 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC5orf30  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC5orf30
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch C5orf30
DgiDB (Drug Gene Interaction Database)C5orf30
DoCM (Curated mutations)C5orf30 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C5orf30 (select a term)
intoGenC5orf30
Cancer3DC5orf30(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616608   
Orphanet
DisGeNETC5orf30
MedgenC5orf30
Genetic Testing Registry C5orf30
NextProtQ96GV9 [Medical]
TSGene90355
GENETestsC5orf30
Target ValidationC5orf30
Huge Navigator C5orf30 [HugePedia]
snp3D : Map Gene to Disease90355
BioCentury BCIQC5orf30
ClinGenC5orf30
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90355
Chemical/Pharm GKB GenePA162380017
Clinical trialC5orf30
Miscellaneous
canSAR (ICR)C5orf30 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC5orf30
EVEXC5orf30
GoPubMedC5orf30
iHOPC5orf30
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:11:27 CET 2017

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