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STON1 (stonin 1)

Identity

Alias_symbol (synonym)SBLF
stoned-b1
Other aliasSALF
STN1
STNB1
HGNC (Hugo) STON1
LocusID (NCBI) 11037
Atlas_Id 74318
Location 2p16.3  [Link to chromosome band 2p16]
Location_base_pair Starts at 48530169 and ends at 48598515 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PPP1R21 (2p16.3) / STON1 (2p16.3)STON1 (2p16.3) / GTF2A1L (2p16.3)

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)STON1   17003
Cards
Entrez_Gene (NCBI)STON1  11037  stonin 1
AliasesSALF; SBLF; STN1; STNB1
GeneCards (Weizmann)STON1
Ensembl hg19 (Hinxton)ENSG00000243244 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000243244 [Gene_View]  chr2:48530169-48598515 [Contig_View]  STON1 [Vega]
ICGC DataPortalENSG00000243244
TCGA cBioPortalSTON1
AceView (NCBI)STON1
Genatlas (Paris)STON1
WikiGenes11037
SOURCE (Princeton)STON1
Genetics Home Reference (NIH)STON1
Genomic and cartography
GoldenPath hg38 (UCSC)STON1  -     chr2:48530169-48598515 +  2p16.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)STON1  -     2p16.3   [Description]    (hg19-Feb_2009)
EnsemblSTON1 - 2p16.3 [CytoView hg19]  STON1 - 2p16.3 [CytoView hg38]
Mapping of homologs : NCBISTON1 [Mapview hg19]  STON1 [Mapview hg38]
OMIM605357   
Gene and transcription
Genbank (Entrez)AF255310 AK023617 AK314464 AL700433 AL703296
RefSeq transcript (Entrez)NM_001198595 NM_006873
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)STON1
Cluster EST : UnigeneHs.736128 [ NCBI ]
CGAP (NCI)Hs.736128
Alternative Splicing GalleryENSG00000243244
Gene ExpressionSTON1 [ NCBI-GEO ]   STON1 [ EBI - ARRAY_EXPRESS ]   STON1 [ SEEK ]   STON1 [ MEM ]
Gene Expression Viewer (FireBrowse)STON1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11037
GTEX Portal (Tissue expression)STON1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6Q2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6Q2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6Q2
Splice isoforms : SwissVarQ9Y6Q2
PhosPhoSitePlusQ9Y6Q2
Domaine pattern : Prosite (Expaxy)MHD (PS51072)    SHD (PS51070)   
Domains : Interpro (EBI)MHD    SHD    Ston1   
Domain families : Pfam (Sanger)Adap_comp_sub (PF00928)   
Domain families : Pfam (NCBI)pfam00928   
Conserved Domain (NCBI)STON1
DMDM Disease mutations11037
Blocks (Seattle)STON1
SuperfamilyQ9Y6Q2
Human Protein AtlasENSG00000243244
Peptide AtlasQ9Y6Q2
HPRD16100
IPIIPI00002548   IPI00894398   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6Q2
IntAct (EBI)Q9Y6Q2
FunCoupENSG00000243244
BioGRIDSTON1
STRING (EMBL)STON1
ZODIACSTON1
Ontologies - Pathways
QuickGOQ9Y6Q2
Ontology : AmiGOcytoplasm  endocytosis  membrane  regulation of endocytosis  
Ontology : EGO-EBIcytoplasm  endocytosis  membrane  regulation of endocytosis  
NDEx NetworkSTON1
Atlas of Cancer Signalling NetworkSTON1
Wikipedia pathwaysSTON1
Orthology - Evolution
OrthoDB11037
GeneTree (enSembl)ENSG00000243244
Phylogenetic Trees/Animal Genes : TreeFamSTON1
HOVERGENQ9Y6Q2
HOGENOMQ9Y6Q2
Homologs : HomoloGeneSTON1
Homology/Alignments : Family Browser (UCSC)STON1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTON1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STON1
dbVarSTON1
ClinVarSTON1
1000_GenomesSTON1 
Exome Variant ServerSTON1
ExAC (Exome Aggregation Consortium)STON1 (select the gene name)
Genetic variants : HAPMAP11037
Genomic Variants (DGV)STON1 [DGVbeta]
DECIPHERSTON1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSTON1 
Mutations
ICGC Data PortalSTON1 
TCGA Data PortalSTON1 
Broad Tumor PortalSTON1
OASIS PortalSTON1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTON1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSTON1
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 STON1
DgiDB (Drug Gene Interaction Database)STON1
DoCM (Curated mutations)STON1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)STON1 (select a term)
intoGenSTON1
Cancer3DSTON1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605357   
Orphanet
MedgenSTON1
Genetic Testing Registry STON1
NextProtQ9Y6Q2 [Medical]
TSGene11037
GENETestsSTON1
Target ValidationSTON1
Huge Navigator STON1 [HugePedia]
snp3D : Map Gene to Disease11037
BioCentury BCIQSTON1
ClinGenSTON1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11037
Chemical/Pharm GKB GenePA143485623
Clinical trialSTON1
Miscellaneous
canSAR (ICR)STON1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSTON1
EVEXSTON1
GoPubMedSTON1
iHOPSTON1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:44:25 CEST 2017

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