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SNRNP48 (small nuclear ribonucleoprotein U11/U12 subunit 48)

Identity

Alias_namesC6orf151
chromosome 6 open reading frame 151
small nuclear ribonucleoprotein 48kDa (U11/U12)
small nuclear ribonucleoprotein, U11/U12 48KDa subunit
Alias_symbol (synonym)FLJ32234
dJ512B11.2
dJ336K20B.1
Other alias
HGNC (Hugo) SNRNP48
LocusID (NCBI) 154007
Atlas_Id 74031
Location 6p24.3  [Link to chromosome band 6p24]
Location_base_pair Starts at 7590199 and ends at 7611967 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)
SNRNP48 (6p24.3) / STK3 (8q22.2)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;8)(p24;q22) SNRNP48/STK3


External links

Nomenclature
HGNC (Hugo)SNRNP48   21368
Cards
Entrez_Gene (NCBI)SNRNP48  154007  small nuclear ribonucleoprotein U11/U12 subunit 48
AliasesC6orf151; dJ336K20B.1; dJ512B11.2
GeneCards (Weizmann)SNRNP48
Ensembl hg19 (Hinxton)ENSG00000168566 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168566 [Gene_View]  ENSG00000168566 [Sequence]  chr6:7590199-7611967 [Contig_View]  SNRNP48 [Vega]
ICGC DataPortalENSG00000168566
TCGA cBioPortalSNRNP48
AceView (NCBI)SNRNP48
Genatlas (Paris)SNRNP48
WikiGenes154007
SOURCE (Princeton)SNRNP48
Genetics Home Reference (NIH)SNRNP48
Genomic and cartography
GoldenPath hg38 (UCSC)SNRNP48  -     chr6:7590199-7611967 +  6p24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SNRNP48  -     6p24.3   [Description]    (hg19-Feb_2009)
EnsemblSNRNP48 - 6p24.3 [CytoView hg19]  SNRNP48 - 6p24.3 [CytoView hg38]
Mapping of homologs : NCBISNRNP48 [Mapview hg19]  SNRNP48 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AJ420586 AK027220 AK056796 AK292409 AL832462
RefSeq transcript (Entrez)NM_152551
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SNRNP48
Cluster EST : UnigeneHs.13366 [ NCBI ]
CGAP (NCI)Hs.13366
Alternative Splicing GalleryENSG00000168566
Gene ExpressionSNRNP48 [ NCBI-GEO ]   SNRNP48 [ EBI - ARRAY_EXPRESS ]   SNRNP48 [ SEEK ]   SNRNP48 [ MEM ]
Gene Expression Viewer (FireBrowse)SNRNP48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)154007
GTEX Portal (Tissue expression)SNRNP48
Human Protein AtlasENSG00000168566-SNRNP48 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6IEG0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6IEG0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6IEG0
Splice isoforms : SwissVarQ6IEG0
PhosPhoSitePlusQ6IEG0
Domaine pattern : Prosite (Expaxy)ZF_CHHC_U11_48K (PS51800)   
Domains : Interpro (EBI)Snrnp48    TRM13/UPF0224_CHHC_Znf_dom   
Domain families : Pfam (Sanger)zf-U11-48K (PF05253)   
Domain families : Pfam (NCBI)pfam05253   
Conserved Domain (NCBI)SNRNP48
DMDM Disease mutations154007
Blocks (Seattle)SNRNP48
PDB (SRS)2VY4    2VY5   
PDB (PDBSum)2VY4    2VY5   
PDB (IMB)2VY4    2VY5   
PDB (RSDB)2VY4    2VY5   
Structural Biology KnowledgeBase2VY4    2VY5   
SCOP (Structural Classification of Proteins)2VY4    2VY5   
CATH (Classification of proteins structures)2VY4    2VY5   
SuperfamilyQ6IEG0
Human Protein Atlas [tissue]ENSG00000168566-SNRNP48 [tissue]
Peptide AtlasQ6IEG0
HPRD12858
IPIIPI00419342   IPI00607860   IPI00953681   
Protein Interaction databases
DIP (DOE-UCLA)Q6IEG0
IntAct (EBI)Q6IEG0
FunCoupENSG00000168566
BioGRIDSNRNP48
STRING (EMBL)SNRNP48
ZODIACSNRNP48
Ontologies - Pathways
QuickGOQ6IEG0
Ontology : AmiGOmRNA splicing, via spliceosome  nucleic acid binding  nucleoplasm  nucleoplasm  U12-type spliceosomal complex  cytosol  RNA splicing  metal ion binding  
Ontology : EGO-EBImRNA splicing, via spliceosome  nucleic acid binding  nucleoplasm  nucleoplasm  U12-type spliceosomal complex  cytosol  RNA splicing  metal ion binding  
NDEx NetworkSNRNP48
Atlas of Cancer Signalling NetworkSNRNP48
Wikipedia pathwaysSNRNP48
Orthology - Evolution
OrthoDB154007
GeneTree (enSembl)ENSG00000168566
Phylogenetic Trees/Animal Genes : TreeFamSNRNP48
HOVERGENQ6IEG0
HOGENOMQ6IEG0
Homologs : HomoloGeneSNRNP48
Homology/Alignments : Family Browser (UCSC)SNRNP48
Gene fusions - Rearrangements
Fusion : QuiverSNRNP48
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSNRNP48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SNRNP48
dbVarSNRNP48
ClinVarSNRNP48
1000_GenomesSNRNP48 
Exome Variant ServerSNRNP48
ExAC (Exome Aggregation Consortium)ENSG00000168566
GNOMAD BrowserENSG00000168566
Varsome BrowserSNRNP48
Genetic variants : HAPMAP154007
Genomic Variants (DGV)SNRNP48 [DGVbeta]
DECIPHERSNRNP48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSNRNP48 
Mutations
ICGC Data PortalSNRNP48 
TCGA Data PortalSNRNP48 
Broad Tumor PortalSNRNP48
OASIS PortalSNRNP48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSNRNP48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSNRNP48
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 SNRNP48
DgiDB (Drug Gene Interaction Database)SNRNP48
DoCM (Curated mutations)SNRNP48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SNRNP48 (select a term)
intoGenSNRNP48
Cancer3DSNRNP48(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETSNRNP48
MedgenSNRNP48
Genetic Testing Registry SNRNP48
NextProtQ6IEG0 [Medical]
TSGene154007
GENETestsSNRNP48
Target ValidationSNRNP48
Huge Navigator SNRNP48 [HugePedia]
snp3D : Map Gene to Disease154007
BioCentury BCIQSNRNP48
ClinGenSNRNP48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD154007
Chemical/Pharm GKB GenePA164726157
Clinical trialSNRNP48
Miscellaneous
canSAR (ICR)SNRNP48 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSNRNP48
EVEXSNRNP48
GoPubMedSNRNP48
iHOPSNRNP48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jul 30 14:32:25 CEST 2018

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