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RS1 (retinoschisin 1)

Identity

Alias_namesRS
retinoschisis (X-linked, juvenile) 1
Alias_symbol (synonym)XLRS1
Other alias
HGNC (Hugo) RS1
LocusID (NCBI) 6247
Atlas_Id 72900
Location Xp22.13  [Link to chromosome band Xp22]
Location_base_pair Starts at 18639688 and ends at 18672103 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)

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)RS1   10457
LRG (Locus Reference Genomic)LRG_702
Cards
Entrez_Gene (NCBI)RS1  6247  retinoschisin 1
AliasesRS; XLRS1
GeneCards (Weizmann)RS1
Ensembl hg19 (Hinxton)ENSG00000102104 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102104 [Gene_View]  chrX:18639688-18672103 [Contig_View]  RS1 [Vega]
ICGC DataPortalENSG00000102104
TCGA cBioPortalRS1
AceView (NCBI)RS1
Genatlas (Paris)RS1
WikiGenes6247
SOURCE (Princeton)RS1
Genetics Home Reference (NIH)RS1
Genomic and cartography
GoldenPath hg38 (UCSC)RS1  -     chrX:18639688-18672103 -  Xp22.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RS1  -     Xp22.13   [Description]    (hg19-Feb_2009)
EnsemblRS1 - Xp22.13 [CytoView hg19]  RS1 - Xp22.13 [CytoView hg38]
Mapping of homologs : NCBIRS1 [Mapview hg19]  RS1 [Mapview hg38]
OMIM300839   312700   
Gene and transcription
Genbank (Entrez)AF014459 AL049684 BC140343 BC141638 BQ185379
RefSeq transcript (Entrez)NM_000330
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RS1
Cluster EST : UnigeneHs.715725 [ NCBI ]
CGAP (NCI)Hs.715725
Alternative Splicing GalleryENSG00000102104
Gene ExpressionRS1 [ NCBI-GEO ]   RS1 [ EBI - ARRAY_EXPRESS ]   RS1 [ SEEK ]   RS1 [ MEM ]
Gene Expression Viewer (FireBrowse)RS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6247
GTEX Portal (Tissue expression)RS1
Human Protein AtlasENSG00000102104-RS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15537   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15537  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15537
Splice isoforms : SwissVarO15537
PhosPhoSitePlusO15537
Domaine pattern : Prosite (Expaxy)FA58C_1 (PS01285)    FA58C_3 (PS50022)   
Domains : Interpro (EBI)FA58C    Galactose-bd-like   
Domain families : Pfam (Sanger)F5_F8_type_C (PF00754)   
Domain families : Pfam (NCBI)pfam00754   
Domain families : Smart (EMBL)FA58C (SM00231)  
Conserved Domain (NCBI)RS1
DMDM Disease mutations6247
Blocks (Seattle)RS1
PDB (SRS)3JD6   
PDB (PDBSum)3JD6   
PDB (IMB)3JD6   
PDB (RSDB)3JD6   
Structural Biology KnowledgeBase3JD6   
SCOP (Structural Classification of Proteins)3JD6   
CATH (Classification of proteins structures)3JD6   
SuperfamilyO15537
Human Protein Atlas [tissue]ENSG00000102104-RS1 [tissue]
Peptide AtlasO15537
HPRD02426
IPIIPI00007331   
Protein Interaction databases
DIP (DOE-UCLA)O15537
IntAct (EBI)O15537
FunCoupENSG00000102104
BioGRIDRS1
STRING (EMBL)RS1
ZODIACRS1
Ontologies - Pathways
QuickGOO15537
Ontology : AmiGOphosphatidylserine binding  phosphatidylinositol-4,5-bisphosphate binding  phosphatidylinositol-3,4,5-trisphosphate binding  extracellular space  cell adhesion  multicellular organism development  visual perception  phosphatidylinositol-5-phosphate binding  retina layer formation  adaptation of rhodopsin mediated signaling  extrinsic component of plasma membrane  phosphatidylinositol-3-phosphate binding  phosphatidylinositol-3,4-bisphosphate binding  protein homooligomerization  phosphatidylinositol-4-phosphate binding  oligosaccharide binding  phosphatidylinositol-3,5-bisphosphate binding  
Ontology : EGO-EBIphosphatidylserine binding  phosphatidylinositol-4,5-bisphosphate binding  phosphatidylinositol-3,4,5-trisphosphate binding  extracellular space  cell adhesion  multicellular organism development  visual perception  phosphatidylinositol-5-phosphate binding  retina layer formation  adaptation of rhodopsin mediated signaling  extrinsic component of plasma membrane  phosphatidylinositol-3-phosphate binding  phosphatidylinositol-3,4-bisphosphate binding  protein homooligomerization  phosphatidylinositol-4-phosphate binding  oligosaccharide binding  phosphatidylinositol-3,5-bisphosphate binding  
NDEx NetworkRS1
Atlas of Cancer Signalling NetworkRS1
Wikipedia pathwaysRS1
Orthology - Evolution
OrthoDB6247
GeneTree (enSembl)ENSG00000102104
Phylogenetic Trees/Animal Genes : TreeFamRS1
HOVERGENO15537
HOGENOMO15537
Homologs : HomoloGeneRS1
Homology/Alignments : Family Browser (UCSC)RS1
Gene fusions - Rearrangements
Tumor Fusion PortalRS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RS1
dbVarRS1
ClinVarRS1
1000_GenomesRS1 
Exome Variant ServerRS1
ExAC (Exome Aggregation Consortium)ENSG00000102104
GNOMAD BrowserENSG00000102104
Genetic variants : HAPMAP6247
Genomic Variants (DGV)RS1 [DGVbeta]
DECIPHERRS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRS1 
Mutations
ICGC Data PortalRS1 
TCGA Data PortalRS1 
Broad Tumor PortalRS1
OASIS PortalRS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRS1
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
LOVD (Leiden Open Variation Database)SpainMDB
BioMutasearch RS1
DgiDB (Drug Gene Interaction Database)RS1
DoCM (Curated mutations)RS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RS1 (select a term)
intoGenRS1
Cancer3DRS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300839    312700   
Orphanet155   
DisGeNETRS1
MedgenRS1
Genetic Testing Registry RS1
NextProtO15537 [Medical]
TSGene6247
GENETestsRS1
Target ValidationRS1
Huge Navigator RS1 [HugePedia]
snp3D : Map Gene to Disease6247
BioCentury BCIQRS1
ClinGenRS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6247
Chemical/Pharm GKB GenePA34871
Clinical trialRS1
Miscellaneous
canSAR (ICR)RS1 (select the gene name)
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRS1
EVEXRS1
GoPubMedRS1
iHOPRS1
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 14:00:31 CET 2017

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