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NSRP1 (nuclear speckle splicing regulatory protein 1)

Identity

Alias_namesCCDC55
coiled-coil domain containing 55
Alias_symbol (synonym)DKFZP434K1421
NSrp70
Other aliasHSPC095
HGNC (Hugo) NSRP1
LocusID (NCBI) 84081
Atlas_Id 55003
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 30116807 and ends at 30186475 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MALAT1 (11q13.1) / NSRP1 (17q11.2)NSRP1 (17q11.2) / ANKRD13B (17q11.2)NSRP1 (17q11.2) / ATP5F1 (1p13.2)
NSRP1 (17q11.2) / EFCAB5 (17q11.2)NSRP1 (17q11.2) / FLJ43681 ()NSRP1 (17q11.2) / JAK1 (1p31.3)
NSRP1 (17q11.2) / SKAP1 (17q21.32)NSRP1 (17q11.2) / UROD (1p34.1)NSRP1 (17q11.2) / ZNF44 (19p13.2)
NSRP1 17q11.2 / ANKRD13B 17q11.2NSRP1 17q11.2 / EFCAB5 17q11.2NSRP1 17q11.2 / SKAP1 17q21.32

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)NSRP1   25305
Cards
Entrez_Gene (NCBI)NSRP1  84081  nuclear speckle splicing regulatory protein 1
AliasesCCDC55; HSPC095; NSrp70
GeneCards (Weizmann)NSRP1
Ensembl hg19 (Hinxton)ENSG00000126653 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126653 [Gene_View]  chr17:30116807-30186475 [Contig_View]  NSRP1 [Vega]
ICGC DataPortalENSG00000126653
TCGA cBioPortalNSRP1
AceView (NCBI)NSRP1
Genatlas (Paris)NSRP1
WikiGenes84081
SOURCE (Princeton)NSRP1
Genetics Home Reference (NIH)NSRP1
Genomic and cartography
GoldenPath hg38 (UCSC)NSRP1  -     chr17:30116807-30186475 +  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NSRP1  -     17q11.2   [Description]    (hg19-Feb_2009)
EnsemblNSRP1 - 17q11.2 [CytoView hg19]  NSRP1 - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBINSRP1 [Mapview hg19]  NSRP1 [Mapview hg38]
OMIM616173   
Gene and transcription
Genbank (Entrez)AA811439 AF161358 AK094552 AK297102 AK313963
RefSeq transcript (Entrez)NM_001033563 NM_001261467 NM_032141
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NSRP1
Cluster EST : UnigeneHs.462663 [ NCBI ]
CGAP (NCI)Hs.462663
Alternative Splicing GalleryENSG00000126653
Gene ExpressionNSRP1 [ NCBI-GEO ]   NSRP1 [ EBI - ARRAY_EXPRESS ]   NSRP1 [ SEEK ]   NSRP1 [ MEM ]
Gene Expression Viewer (FireBrowse)NSRP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84081
GTEX Portal (Tissue expression)NSRP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H0G5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H0G5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H0G5
Splice isoforms : SwissVarQ9H0G5
PhosPhoSitePlusQ9H0G5
Domains : Interpro (EBI)DUF2040   
Domain families : Pfam (Sanger)DUF2040 (PF09745)   
Domain families : Pfam (NCBI)pfam09745   
Conserved Domain (NCBI)NSRP1
DMDM Disease mutations84081
Blocks (Seattle)NSRP1
SuperfamilyQ9H0G5
Human Protein AtlasENSG00000126653
Peptide AtlasQ9H0G5
HPRD08536
IPIIPI00030274   IPI00796386   IPI00790230   IPI01010122   
Protein Interaction databases
DIP (DOE-UCLA)Q9H0G5
IntAct (EBI)Q9H0G5
FunCoupENSG00000126653
BioGRIDNSRP1
STRING (EMBL)NSRP1
ZODIACNSRP1
Ontologies - Pathways
QuickGOQ9H0G5
Ontology : AmiGOregulation of alternative mRNA splicing, via spliceosome  RNA binding  mRNA binding  protein binding  nucleus  nucleoplasm  mRNA processing  nucleocytoplasmic transport  RNA splicing  nuclear speck  intracellular ribonucleoprotein complex  developmental process  
Ontology : EGO-EBIregulation of alternative mRNA splicing, via spliceosome  RNA binding  mRNA binding  protein binding  nucleus  nucleoplasm  mRNA processing  nucleocytoplasmic transport  RNA splicing  nuclear speck  intracellular ribonucleoprotein complex  developmental process  
NDEx NetworkNSRP1
Atlas of Cancer Signalling NetworkNSRP1
Wikipedia pathwaysNSRP1
Orthology - Evolution
OrthoDB84081
GeneTree (enSembl)ENSG00000126653
Phylogenetic Trees/Animal Genes : TreeFamNSRP1
HOVERGENQ9H0G5
HOGENOMQ9H0G5
Homologs : HomoloGeneNSRP1
Homology/Alignments : Family Browser (UCSC)NSRP1
Gene fusions - Rearrangements
Fusion : MitelmanNSRP1/ANKRD13B [17q11.2/17q11.2]  
Fusion : MitelmanNSRP1/EFCAB5 [17q11.2/17q11.2]  [t(17;17)(q11;q11)]  
Fusion : MitelmanNSRP1/SKAP1 [17q11.2/17q21.32]  [t(17;17)(q11;q21)]  
Fusion: TCGANSRP1 17q11.2 ANKRD13B 17q11.2 BRCA
Fusion: TCGANSRP1 17q11.2 EFCAB5 17q11.2 BLCA
Fusion: TCGANSRP1 17q11.2 SKAP1 17q21.32 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNSRP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NSRP1
dbVarNSRP1
ClinVarNSRP1
1000_GenomesNSRP1 
Exome Variant ServerNSRP1
ExAC (Exome Aggregation Consortium)NSRP1 (select the gene name)
Genetic variants : HAPMAP84081
Genomic Variants (DGV)NSRP1 [DGVbeta]
DECIPHERNSRP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNSRP1 
Mutations
ICGC Data PortalNSRP1 
TCGA Data PortalNSRP1 
Broad Tumor PortalNSRP1
OASIS PortalNSRP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNSRP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNSRP1
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 NSRP1
DgiDB (Drug Gene Interaction Database)NSRP1
DoCM (Curated mutations)NSRP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NSRP1 (select a term)
intoGenNSRP1
Cancer3DNSRP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616173   
Orphanet
MedgenNSRP1
Genetic Testing Registry NSRP1
NextProtQ9H0G5 [Medical]
TSGene84081
GENETestsNSRP1
Target ValidationNSRP1
Huge Navigator NSRP1 [HugePedia]
snp3D : Map Gene to Disease84081
BioCentury BCIQNSRP1
ClinGenNSRP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84081
Chemical/Pharm GKB GenePA142672171
Clinical trialNSRP1
Miscellaneous
canSAR (ICR)NSRP1 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNSRP1
EVEXNSRP1
GoPubMedNSRP1
iHOPNSRP1
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 12:47:30 CEST 2017

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