Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200)

Identity

Alias_namesASCC3L1
RP33
activating signal cointegrator 1 complex subunit 3-like 1
retinitis pigmentosa 33 (autosomal dominant)
small nuclear ribonucleoprotein 200kDa (U5)
small nuclear ribonucleoprotein, U5 200kDa subunit
Alias_symbol (synonym)U5-200KD
HELIC2
KIAA0788
BRR2
Other alias
HGNC (Hugo) SNRNP200
LocusID (NCBI) 23020
Atlas_Id 55429
Location 2q11.2  [Link to chromosome band 2q11]
Location_base_pair Starts at 96274336 and ends at 96305569 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)
PKM (15q23) / SNRNP200 (2q11.2)SEC23A (14q21.1) / SNRNP200 (2q11.2)SNRNP200 (2q11.2) / ABCA1 (9q31.1)
SNRNP200 (2q11.2) / MPHOSPH8 (13q12.11)SNRNP200 (2q11.2) / RBM26 (13q31.1)SNRNP200 (2q11.2) / SNRNP200 (2q11.2)

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

 


External links

Nomenclature
HGNC (Hugo)SNRNP200   30859
Cards
Entrez_Gene (NCBI)SNRNP200  23020  small nuclear ribonucleoprotein U5 subunit 200
AliasesASCC3L1; BRR2; HELIC2; RP33; 
U5-200KD
GeneCards (Weizmann)SNRNP200
Ensembl hg19 (Hinxton)ENSG00000144028 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144028 [Gene_View]  chr2:96274336-96305569 [Contig_View]  SNRNP200 [Vega]
ICGC DataPortalENSG00000144028
TCGA cBioPortalSNRNP200
AceView (NCBI)SNRNP200
Genatlas (Paris)SNRNP200
WikiGenes23020
SOURCE (Princeton)SNRNP200
Genetics Home Reference (NIH)SNRNP200
Genomic and cartography
GoldenPath hg38 (UCSC)SNRNP200  -     chr2:96274336-96305569 -  2q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SNRNP200  -     2q11.2   [Description]    (hg19-Feb_2009)
EnsemblSNRNP200 - 2q11.2 [CytoView hg19]  SNRNP200 - 2q11.2 [CytoView hg38]
Mapping of homologs : NCBISNRNP200 [Mapview hg19]  SNRNP200 [Mapview hg38]
OMIM601664   610359   
Gene and transcription
Genbank (Entrez)AB018331 AF085356 AF119874 AJ844618 AK021418
RefSeq transcript (Entrez)NM_014014
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SNRNP200
Cluster EST : UnigeneHs.246112 [ NCBI ]
CGAP (NCI)Hs.246112
Alternative Splicing GalleryENSG00000144028
Gene ExpressionSNRNP200 [ NCBI-GEO ]   SNRNP200 [ EBI - ARRAY_EXPRESS ]   SNRNP200 [ SEEK ]   SNRNP200 [ MEM ]
Gene Expression Viewer (FireBrowse)SNRNP200 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23020
GTEX Portal (Tissue expression)SNRNP200
Human Protein AtlasENSG00000144028-SNRNP200 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75643   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75643  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75643
Splice isoforms : SwissVarO75643
PhosPhoSitePlusO75643
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)C2_dom    DEAD/DEAH_box_helicase_dom    Helicase_ATP-bd    Helicase_C    Ig_E-set    P-loop_NTPase    Sec63-dom    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)DEAD (PF00270)    Helicase_C (PF00271)    Sec63 (PF02889)   
Domain families : Pfam (NCBI)pfam00270    pfam00271    pfam02889   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  Sec63 (SM00973)  
Conserved Domain (NCBI)SNRNP200
DMDM Disease mutations23020
Blocks (Seattle)SNRNP200
PDB (SRS)2Q0Z    3JCR    4F91    4F92    4F93    4KIT   
PDB (PDBSum)2Q0Z    3JCR    4F91    4F92    4F93    4KIT   
PDB (IMB)2Q0Z    3JCR    4F91    4F92    4F93    4KIT   
PDB (RSDB)2Q0Z    3JCR    4F91    4F92    4F93    4KIT   
Structural Biology KnowledgeBase2Q0Z    3JCR    4F91    4F92    4F93    4KIT   
SCOP (Structural Classification of Proteins)2Q0Z    3JCR    4F91    4F92    4F93    4KIT   
CATH (Classification of proteins structures)2Q0Z    3JCR    4F91    4F92    4F93    4KIT   
SuperfamilyO75643
Human Protein Atlas [tissue]ENSG00000144028-SNRNP200 [tissue]
Peptide AtlasO75643
HPRD03391
IPIIPI00420014   IPI00168235   IPI01013305   IPI01018841   IPI01012856   IPI01014120   IPI00927472   
Protein Interaction databases
DIP (DOE-UCLA)O75643
IntAct (EBI)O75643
FunCoupENSG00000144028
BioGRIDSNRNP200
STRING (EMBL)SNRNP200
ZODIACSNRNP200
Ontologies - Pathways
QuickGOO75643
Ontology : AmiGOcis assembly of pre-catalytic spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  osteoblast differentiation  RNA binding  ATP-dependent RNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  spliceosomal complex  U5 snRNP  ATP-dependent helicase activity  membrane  identical protein binding  U4/U6 x U5 tri-snRNP complex  catalytic step 2 spliceosome  
Ontology : EGO-EBIcis assembly of pre-catalytic spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  osteoblast differentiation  RNA binding  ATP-dependent RNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  spliceosomal complex  U5 snRNP  ATP-dependent helicase activity  membrane  identical protein binding  U4/U6 x U5 tri-snRNP complex  catalytic step 2 spliceosome  
Pathways : KEGGSpliceosome   
NDEx NetworkSNRNP200
Atlas of Cancer Signalling NetworkSNRNP200
Wikipedia pathwaysSNRNP200
Orthology - Evolution
OrthoDB23020
GeneTree (enSembl)ENSG00000144028
Phylogenetic Trees/Animal Genes : TreeFamSNRNP200
HOVERGENO75643
HOGENOMO75643
Homologs : HomoloGeneSNRNP200
Homology/Alignments : Family Browser (UCSC)SNRNP200
Gene fusions - Rearrangements
Fusion: Tumor Portal SNRNP200
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSNRNP200 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SNRNP200
dbVarSNRNP200
ClinVarSNRNP200
1000_GenomesSNRNP200 
Exome Variant ServerSNRNP200
ExAC (Exome Aggregation Consortium)ENSG00000144028
GNOMAD BrowserENSG00000144028
Genetic variants : HAPMAP23020
Genomic Variants (DGV)SNRNP200 [DGVbeta]
DECIPHERSNRNP200 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSNRNP200 
Mutations
ICGC Data PortalSNRNP200 
TCGA Data PortalSNRNP200 
Broad Tumor PortalSNRNP200
OASIS PortalSNRNP200 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSNRNP200  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSNRNP200
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch SNRNP200
DgiDB (Drug Gene Interaction Database)SNRNP200
DoCM (Curated mutations)SNRNP200 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SNRNP200 (select a term)
intoGenSNRNP200
Cancer3DSNRNP200(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601664    610359   
Orphanet659   
MedgenSNRNP200
Genetic Testing Registry SNRNP200
NextProtO75643 [Medical]
TSGene23020
GENETestsSNRNP200
Target ValidationSNRNP200
Huge Navigator SNRNP200 [HugePedia]
snp3D : Map Gene to Disease23020
BioCentury BCIQSNRNP200
ClinGenSNRNP200
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23020
Chemical/Pharm GKB GenePA164726004
Clinical trialSNRNP200
Miscellaneous
canSAR (ICR)SNRNP200 (select the gene name)
Probes
Litterature
PubMed111 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSNRNP200
EVEXSNRNP200
GoPubMedSNRNP200
iHOPSNRNP200
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 : Thu Nov 9 13:12:01 CET 2017

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