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RSPRY1 (ring finger and SPRY domain containing 1)

Identity

Alias_symbol (synonym)KIAA1972
Other aliasSEMDFA
HGNC (Hugo) RSPRY1
LocusID (NCBI) 89970
Atlas_Id 72915
Location 16q13  [Link to chromosome band 16q13]
Location_base_pair Starts at 57186284 and ends at 57240475 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RSPRY1 (16q13) / MYH6 (14q11.2)

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)RSPRY1   29420
Cards
Entrez_Gene (NCBI)RSPRY1  89970  ring finger and SPRY domain containing 1
AliasesSEMDFA
GeneCards (Weizmann)RSPRY1
Ensembl hg19 (Hinxton)ENSG00000159579 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159579 [Gene_View]  chr16:57186284-57240475 [Contig_View]  RSPRY1 [Vega]
ICGC DataPortalENSG00000159579
TCGA cBioPortalRSPRY1
AceView (NCBI)RSPRY1
Genatlas (Paris)RSPRY1
WikiGenes89970
SOURCE (Princeton)RSPRY1
Genetics Home Reference (NIH)RSPRY1
Genomic and cartography
GoldenPath hg38 (UCSC)RSPRY1  -     chr16:57186284-57240475 +  16q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RSPRY1  -     16q13   [Description]    (hg19-Feb_2009)
EnsemblRSPRY1 - 16q13 [CytoView hg19]  RSPRY1 - 16q13 [CytoView hg38]
Mapping of homologs : NCBIRSPRY1 [Mapview hg19]  RSPRY1 [Mapview hg38]
OMIM616585   616723   
Gene and transcription
Genbank (Entrez)AB075852 AK027549 AK124601 AK172845 AL834402
RefSeq transcript (Entrez)NM_001305163 NM_001305164 NM_001305182 NM_133368
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RSPRY1
Cluster EST : UnigeneHs.460885 [ NCBI ]
CGAP (NCI)Hs.460885
Alternative Splicing GalleryENSG00000159579
Gene ExpressionRSPRY1 [ NCBI-GEO ]   RSPRY1 [ EBI - ARRAY_EXPRESS ]   RSPRY1 [ SEEK ]   RSPRY1 [ MEM ]
Gene Expression Viewer (FireBrowse)RSPRY1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)89970
GTEX Portal (Tissue expression)RSPRY1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96DX4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96DX4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96DX4
Splice isoforms : SwissVarQ96DX4
PhosPhoSitePlusQ96DX4
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)ARM-type_fold    B30.2/SPRY    ConA-like_dom    SPRY_dom    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)SPRY (PF00622)   
Domain families : Pfam (NCBI)pfam00622   
Domain families : Smart (EMBL)RING (SM00184)  SPRY (SM00449)  
Conserved Domain (NCBI)RSPRY1
DMDM Disease mutations89970
Blocks (Seattle)RSPRY1
SuperfamilyQ96DX4
Human Protein AtlasENSG00000159579
Peptide AtlasQ96DX4
HPRD13908
IPIIPI00061267   IPI00643431   
Protein Interaction databases
DIP (DOE-UCLA)Q96DX4
IntAct (EBI)Q96DX4
FunCoupENSG00000159579
BioGRIDRSPRY1
STRING (EMBL)RSPRY1
ZODIACRSPRY1
Ontologies - Pathways
QuickGOQ96DX4
Ontology : AmiGOextracellular region  zinc ion binding  
Ontology : EGO-EBIextracellular region  zinc ion binding  
NDEx NetworkRSPRY1
Atlas of Cancer Signalling NetworkRSPRY1
Wikipedia pathwaysRSPRY1
Orthology - Evolution
OrthoDB89970
GeneTree (enSembl)ENSG00000159579
Phylogenetic Trees/Animal Genes : TreeFamRSPRY1
HOVERGENQ96DX4
HOGENOMQ96DX4
Homologs : HomoloGeneRSPRY1
Homology/Alignments : Family Browser (UCSC)RSPRY1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRSPRY1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RSPRY1
dbVarRSPRY1
ClinVarRSPRY1
1000_GenomesRSPRY1 
Exome Variant ServerRSPRY1
ExAC (Exome Aggregation Consortium)RSPRY1 (select the gene name)
Genetic variants : HAPMAP89970
Genomic Variants (DGV)RSPRY1 [DGVbeta]
DECIPHERRSPRY1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRSPRY1 
Mutations
ICGC Data PortalRSPRY1 
TCGA Data PortalRSPRY1 
Broad Tumor PortalRSPRY1
OASIS PortalRSPRY1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRSPRY1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRSPRY1
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 RSPRY1
DgiDB (Drug Gene Interaction Database)RSPRY1
DoCM (Curated mutations)RSPRY1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RSPRY1 (select a term)
intoGenRSPRY1
Cancer3DRSPRY1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616585    616723   
Orphanet23726   
MedgenRSPRY1
Genetic Testing Registry RSPRY1
NextProtQ96DX4 [Medical]
TSGene89970
GENETestsRSPRY1
Huge Navigator RSPRY1 [HugePedia]
snp3D : Map Gene to Disease89970
BioCentury BCIQRSPRY1
ClinGenRSPRY1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD89970
Chemical/Pharm GKB GenePA143485602
Clinical trialRSPRY1
Miscellaneous
canSAR (ICR)RSPRY1 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRSPRY1
EVEXRSPRY1
GoPubMedRSPRY1
iHOPRSPRY1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:51:58 CEST 2017

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