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NSRP1 (nuclear speckle splicing regulatory protein 1)

Identity

Alias (NCBI)CCDC55
HSPC095
NSrp70
HGNC (Hugo) NSRP1
HGNC Alias symbDKFZP434K1421
NSrp70
HGNC Previous nameCCDC55
HGNC Previous namecoiled-coil domain containing 55
LocusID (NCBI) 84081
Atlas_Id 55003
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 30116816 and ends at 30186475 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)
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    nuclear speckle splicing regulatory protein 1
AliasesCCDC55; HSPC095; NSrp70
GeneCards (Weizmann)NSRP1
Ensembl hg19 (Hinxton)ENSG00000126653 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126653 [Gene_View]  ENSG00000126653 [Sequence]  chr17:30116816-30186475 [Contig_View]  NSRP1 [Vega]
ICGC DataPortalENSG00000126653
TCGA cBioPortalNSRP1
AceView (NCBI)NSRP1
Genatlas (Paris)NSRP1
SOURCE (Princeton)NSRP1
Genetics Home Reference (NIH)NSRP1
Genomic and cartography
GoldenPath hg38 (UCSC)NSRP1  -     chr17:30116816-30186475 +  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NSRP1  -     17q11.2   [Description]    (hg19-Feb_2009)
GoldenPathNSRP1 - 17q11.2 [CytoView hg19]  NSRP1 - 17q11.2 [CytoView hg38]
ImmunoBaseENSG00000126653
Genome Data Viewer NCBINSRP1 [Mapview hg19]  
OMIM616173   
Gene and transcription
Genbank (Entrez)AA811439 AF161358 AK094552 AK297102 AK313963
RefSeq transcript (Entrez)NM_001033563 NM_001261467 NM_032141
Consensus coding sequences : CCDS (NCBI)NSRP1
Gene ExpressionNSRP1 [ NCBI-GEO ]   NSRP1 [ EBI - ARRAY_EXPRESS ]   NSRP1 [ SEEK ]   NSRP1 [ MEM ]
Gene Expression Viewer (FireBrowse)NSRP1 [ Firebrowse - Broad ]
GenevisibleExpression of NSRP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84081
GTEX Portal (Tissue expression)NSRP1
Human Protein AtlasENSG00000126653-NSRP1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9H0G5
Domains : Interpro (EBI)DUF2040    Nsrp1   
Domain families : Pfam (Sanger)DUF2040 (PF09745)   
Domain families : Pfam (NCBI)pfam09745   
Conserved Domain (NCBI)NSRP1
SuperfamilyQ9H0G5
AlphaFold pdb e-kbQ9H0G5   
Human Protein Atlas [tissue]ENSG00000126653-NSRP1 [tissue]
HPRD08536
Protein Interaction databases
DIP (DOE-UCLA)Q9H0G5
IntAct (EBI)Q9H0G5
BioGRIDNSRP1
STRING (EMBL)NSRP1
ZODIACNSRP1
Ontologies - Pathways
QuickGOQ9H0G5
Ontology : AmiGOregulation of alternative mRNA splicing, via spliceosome  in utero embryonic development  RNA binding  mRNA binding  protein binding  nucleus  nucleoplasm  mRNA processing  RNA splicing  nuclear speck  developmental process  ribonucleoprotein complex  
Ontology : EGO-EBIregulation of alternative mRNA splicing, via spliceosome  in utero embryonic development  RNA binding  mRNA binding  protein binding  nucleus  nucleoplasm  mRNA processing  RNA splicing  nuclear speck  developmental process  ribonucleoprotein complex  
NDEx NetworkNSRP1
Atlas of Cancer Signalling NetworkNSRP1
Wikipedia pathwaysNSRP1
Orthology - Evolution
OrthoDB84081
GeneTree (enSembl)ENSG00000126653
Phylogenetic Trees/Animal Genes : TreeFamNSRP1
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]  
Fusion : MitelmanNSRP1/SKAP1 [17q11.2/17q21.32]  
Fusion : QuiverNSRP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNSRP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NSRP1
dbVarNSRP1
ClinVarNSRP1
MonarchNSRP1
1000_GenomesNSRP1 
Exome Variant ServerNSRP1
GNOMAD BrowserENSG00000126653
Varsome BrowserNSRP1
ACMGNSRP1 variants
VarityQ9H0G5
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]  
Somatic Mutations in Cancer : COSMIC3DNSRP1
Mutations and Diseases : HGMDNSRP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaNSRP1
DgiDB (Drug Gene Interaction Database)NSRP1
DoCM (Curated mutations)NSRP1
CIViC (Clinical Interpretations of Variants in Cancer)NSRP1
Cancer3DNSRP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616173   
Orphanet
DisGeNETNSRP1
MedgenNSRP1
Genetic Testing Registry NSRP1
NextProtQ9H0G5 [Medical]
GENETestsNSRP1
Target ValidationNSRP1
Huge Navigator NSRP1 [HugePedia]
ClinGenNSRP1
Clinical trials, drugs, therapy
MyCancerGenomeNSRP1
Protein Interactions : CTDNSRP1
Pharm GKB GenePA142672171
PharosQ9H0G5
Clinical trialNSRP1
Miscellaneous
canSAR (ICR)NSRP1
HarmonizomeNSRP1
DataMed IndexNSRP1
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNSRP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:23:23 CEST 2021

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