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SNRPN (small nuclear ribonucleoprotein polypeptide N)

Identity

Alias_namesPWCR
Prader-Willi syndrome chromosome region
Alias_symbol (synonym)SMN
SM-D
HCERN3
SNRNP-N
SNURF-SNRPN
RT-LI
Other aliassm-N
HGNC (Hugo) SNRPN
LocusID (NCBI) 6638
Atlas_Id 42345
Location 15q11.2  [Link to chromosome band 15q11]
Location_base_pair Starts at 24856512 and ends at 24978723 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)
MYL2 (12q24.11) / SNRPN (15q11.2)NOP2 (12p13.31) / SNRPN (15q11.2)PSD3 (8p22) / SNRPN (15q11.2)
SNRPN (15q11.2) / ARHGEF7 (13q34)SNRPN (15q11.2) / ARPC2 (2q35)SNRPN (15q11.2) / DTNA (18q12.1)
SNRPN (15q11.2) / GABRB3 (15q12)SNRPN (15q11.2) / LENG8 (19q13.42)SNRPN (15q11.2) / RREB1 (6p24.3)
SNRPN (15q11.2) / SNAP25 (20p12.2)SNRPN (15q11.2) / SNRPN (15q11.2)SNRPN (15q11.2) / SUGP1 (19p13.11)
SNRPN (15q11.2) / TUBA1B (12q13.12)TEX26 (13q12.3) / SNRPN (15q11.2)ZNF329 (19q13.43) / SNRPN (15q11.2)

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Prader Willi syndrome


External links

Nomenclature
HGNC (Hugo)SNRPN   11164
Cards
Entrez_Gene (NCBI)SNRPN  6638  small nuclear ribonucleoprotein polypeptide N
AliasesHCERN3; PWCR; RT-LI; SM-D; 
SMN; SNRNP-N; SNURF-SNRPN; sm-N
GeneCards (Weizmann)SNRPN
Ensembl hg19 (Hinxton)ENSG00000128739 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128739 [Gene_View]  chr15:24856512-24978723 [Contig_View]  SNRPN [Vega]
ICGC DataPortalENSG00000128739
TCGA cBioPortalSNRPN
AceView (NCBI)SNRPN
Genatlas (Paris)SNRPN
WikiGenes6638
SOURCE (Princeton)SNRPN
Genetics Home Reference (NIH)SNRPN
Genomic and cartography
GoldenPath hg38 (UCSC)SNRPN  -     chr15:24856512-24978723 +  15q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SNRPN  -     15q11.2   [Description]    (hg19-Feb_2009)
EnsemblSNRPN - 15q11.2 [CytoView hg19]  SNRPN - 15q11.2 [CytoView hg38]
Mapping of homologs : NCBISNRPN [Mapview hg19]  SNRPN [Mapview hg38]
OMIM176270   182279   209850   
Gene and transcription
Genbank (Entrez)AF092911 AF400432 AK123119 AK222633 BC000611
RefSeq transcript (Entrez)NM_001349454 NM_001349455 NM_001349456 NM_001349457 NM_001349458 NM_001349459 NM_001349460 NM_001349461 NM_001349462 NM_001349463 NM_001349464 NM_001349465 NM_003097 NM_022805 NM_022806 NM_022807 NM_022808
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SNRPN
Cluster EST : UnigeneHs.564847 [ NCBI ]
CGAP (NCI)Hs.564847
Alternative Splicing GalleryENSG00000128739
Gene ExpressionSNRPN [ NCBI-GEO ]   SNRPN [ EBI - ARRAY_EXPRESS ]   SNRPN [ SEEK ]   SNRPN [ MEM ]
Gene Expression Viewer (FireBrowse)SNRPN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6638
GTEX Portal (Tissue expression)SNRPN
Human Protein AtlasENSG00000128739-SNRPN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP63162   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP63162  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP63162
Splice isoforms : SwissVarP63162
PhosPhoSitePlusP63162
Domains : Interpro (EBI)LSM_dom    LSM_dom_euk/arc    snRNP-assoc_SmB/SmN   
Domain families : Pfam (Sanger)LSM (PF01423)   
Domain families : Pfam (NCBI)pfam01423   
Domain families : Smart (EMBL)Sm (SM00651)  
Conserved Domain (NCBI)SNRPN
DMDM Disease mutations6638
Blocks (Seattle)SNRPN
PDB (SRS)5MF9   
PDB (PDBSum)5MF9   
PDB (IMB)5MF9   
PDB (RSDB)5MF9   
Structural Biology KnowledgeBase5MF9   
SCOP (Structural Classification of Proteins)5MF9   
CATH (Classification of proteins structures)5MF9   
SuperfamilyP63162
Human Protein Atlas [tissue]ENSG00000128739-SNRPN [tissue]
Peptide AtlasP63162
HPRD01653
IPIIPI00220360   IPI00552601   IPI00382607   IPI01025013   IPI00785142   
Protein Interaction databases
DIP (DOE-UCLA)P63162
IntAct (EBI)P63162
FunCoupENSG00000128739
BioGRIDSNRPN
STRING (EMBL)SNRPN
ZODIACSNRPN
Ontologies - Pathways
QuickGOP63162
Ontology : AmiGOmRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleoplasm  nucleoplasm  spliceosomal complex  U5 snRNP  U1 snRNP  U2 snRNP  U4 snRNP  cytoplasm  RNA splicing  response to hormone  small nuclear ribonucleoprotein complex  U4/U6 x U5 tri-snRNP complex  U2-type prespliceosome  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleoplasm  nucleoplasm  spliceosomal complex  U5 snRNP  U1 snRNP  U2 snRNP  U4 snRNP  cytoplasm  RNA splicing  response to hormone  small nuclear ribonucleoprotein complex  U4/U6 x U5 tri-snRNP complex  U2-type prespliceosome  catalytic step 2 spliceosome  
NDEx NetworkSNRPN
Atlas of Cancer Signalling NetworkSNRPN
Wikipedia pathwaysSNRPN
Orthology - Evolution
OrthoDB6638
GeneTree (enSembl)ENSG00000128739
Phylogenetic Trees/Animal Genes : TreeFamSNRPN
HOVERGENP63162
HOGENOMP63162
Homologs : HomoloGeneSNRPN
Homology/Alignments : Family Browser (UCSC)SNRPN
Gene fusions - Rearrangements
Tumor Fusion PortalSNRPN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSNRPN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SNRPN
dbVarSNRPN
ClinVarSNRPN
1000_GenomesSNRPN 
Exome Variant ServerSNRPN
ExAC (Exome Aggregation Consortium)ENSG00000128739
GNOMAD BrowserENSG00000128739
Genetic variants : HAPMAP6638
Genomic Variants (DGV)SNRPN [DGVbeta]
DECIPHERSNRPN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSNRPN 
Mutations
ICGC Data PortalSNRPN 
TCGA Data PortalSNRPN 
Broad Tumor PortalSNRPN
OASIS PortalSNRPN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSNRPN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSNRPN
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 SNRPN
DgiDB (Drug Gene Interaction Database)SNRPN
DoCM (Curated mutations)SNRPN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SNRPN (select a term)
intoGenSNRPN
Cancer3DSNRPN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176270    182279    209850   
Orphanet17992    17993    17994    17995    23015    13771   
DisGeNETSNRPN
MedgenSNRPN
Genetic Testing Registry SNRPN
NextProtP63162 [Medical]
TSGene6638
GENETestsSNRPN
Target ValidationSNRPN
Huge Navigator SNRPN [HugePedia]
snp3D : Map Gene to Disease6638
BioCentury BCIQSNRPN
ClinGenSNRPN (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6638
Chemical/Pharm GKB GenePA36005
Clinical trialSNRPN
Miscellaneous
canSAR (ICR)SNRPN (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSNRPN
EVEXSNRPN
GoPubMedSNRPN
iHOPSNRPN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:35:52 CET 2017

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