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C19orf48 (chromosome 19 open reading frame 48)

Identity

Alias_symbol (synonym)MGC13170
Other alias-
HGNC (Hugo) C19orf48
LocusID (NCBI) 84798
Atlas_Id 50450
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 50797693 and ends at 50804853 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C19orf48 (19q13.33) / ACPT (19q13.33)C19orf48 (19q13.33) / SNORD88C (19q13.33)CCDC53 (12q23.2) / C19orf48 (19q13.33)
KIFC3 (16q21) / C19orf48 (19q13.33)C19orf48 19q13.33 / ACPT 19q13.33

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)C19orf48   29667
Cards
Entrez_Gene (NCBI)C19orf48  84798  chromosome 19 open reading frame 48
Aliases
GeneCards (Weizmann)C19orf48
Ensembl hg19 (Hinxton)ENSG00000167747 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167747 [Gene_View]  chr19:50797693-50804853 [Contig_View]  C19orf48 [Vega]
ICGC DataPortalENSG00000167747
TCGA cBioPortalC19orf48
AceView (NCBI)C19orf48
Genatlas (Paris)C19orf48
WikiGenes84798
SOURCE (Princeton)C19orf48
Genetics Home Reference (NIH)C19orf48
Genomic and cartography
GoldenPath hg38 (UCSC)C19orf48  -     chr19:50797693-50804853 -  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C19orf48  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblC19orf48 - 19q13.33 [CytoView hg19]  C19orf48 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIC19orf48 [Mapview hg19]  C19orf48 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AY491972 BC006151 BC037227 BC051842 BG482545
RefSeq transcript (Entrez)NM_001290149 NM_001290150 NM_001290151 NM_001290152 NM_001290153 NM_001290154 NM_001290155 NM_032712 NM_199249 NM_199250
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C19orf48
Cluster EST : UnigeneHs.256301 [ NCBI ]
CGAP (NCI)Hs.256301
Alternative Splicing GalleryENSG00000167747
Gene ExpressionC19orf48 [ NCBI-GEO ]   C19orf48 [ EBI - ARRAY_EXPRESS ]   C19orf48 [ SEEK ]   C19orf48 [ MEM ]
Gene Expression Viewer (FireBrowse)C19orf48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84798
GTEX Portal (Tissue expression)C19orf48
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6RUI8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6RUI8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6RUI8
Splice isoforms : SwissVarQ6RUI8
PhosPhoSitePlusQ6RUI8
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)C19orf48
DMDM Disease mutations84798
Blocks (Seattle)C19orf48
SuperfamilyQ6RUI8
Human Protein AtlasENSG00000167747
Peptide AtlasQ6RUI8
HPRD14437
IPIIPI00013711   
Protein Interaction databases
DIP (DOE-UCLA)Q6RUI8
IntAct (EBI)Q6RUI8
FunCoupENSG00000167747
BioGRIDC19orf48
STRING (EMBL)C19orf48
ZODIACC19orf48
Ontologies - Pathways
QuickGOQ6RUI8
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkC19orf48
Atlas of Cancer Signalling NetworkC19orf48
Wikipedia pathwaysC19orf48
Orthology - Evolution
OrthoDB84798
GeneTree (enSembl)ENSG00000167747
Phylogenetic Trees/Animal Genes : TreeFamC19orf48
HOVERGENQ6RUI8
HOGENOMQ6RUI8
Homologs : HomoloGeneC19orf48
Homology/Alignments : Family Browser (UCSC)C19orf48
Gene fusions - Rearrangements
Fusion : MitelmanC19orf48/ACPT [19q13.33/19q13.33]  
Fusion: TCGAC19orf48 19q13.33 ACPT 19q13.33 LUSC
Fusion Cancer (Beijing)C19orf48 [19q13.33]  -  SNORD88C [19q13.33]  [FUSC004457]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC19orf48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C19orf48
dbVarC19orf48
ClinVarC19orf48
1000_GenomesC19orf48 
Exome Variant ServerC19orf48
ExAC (Exome Aggregation Consortium)C19orf48 (select the gene name)
Genetic variants : HAPMAP84798
Genomic Variants (DGV)C19orf48 [DGVbeta]
DECIPHERC19orf48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC19orf48 
Mutations
ICGC Data PortalC19orf48 
TCGA Data PortalC19orf48 
Broad Tumor PortalC19orf48
OASIS PortalC19orf48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC19orf48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC19orf48
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 C19orf48
DgiDB (Drug Gene Interaction Database)C19orf48
DoCM (Curated mutations)C19orf48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C19orf48 (select a term)
intoGenC19orf48
Cancer3DC19orf48(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenC19orf48
Genetic Testing Registry C19orf48
NextProtQ6RUI8 [Medical]
TSGene84798
GENETestsC19orf48
Target ValidationC19orf48
Huge Navigator C19orf48 [HugePedia]
snp3D : Map Gene to Disease84798
BioCentury BCIQC19orf48
ClinGenC19orf48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84798
Chemical/Pharm GKB GenePA145149544
Clinical trialC19orf48
Miscellaneous
canSAR (ICR)C19orf48 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC19orf48
EVEXC19orf48
GoPubMedC19orf48
iHOPC19orf48
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 12:26:03 CEST 2017

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