Atlas of Genetics and Cytogenetics in Oncology and Haematology


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STXBP5 (syntaxin binding protein 5 (tomosyn))

Identity

Alias_symbol (synonym)tomosyn
LLGL3
Other aliasLGL3
Nbla04300
HGNC (Hugo) STXBP5
LocusID (NCBI) 134957
Atlas_Id 74346
Location 6q24.3  [Link to chromosome band 6q24]
Location_base_pair Starts at 147525494 and ends at 147711612 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
RUNX1T1 (8q21.3) / STXBP5 (6q24.3)STXBP5 (6q24.3) / FAM126A (7p15.3)STXBP5 (6q24.3) / STXBP5 (6q24.3)

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)STXBP5   19665
Cards
Entrez_Gene (NCBI)STXBP5  134957  syntaxin binding protein 5 (tomosyn)
AliasesLGL3; LLGL3; Nbla04300
GeneCards (Weizmann)STXBP5
Ensembl hg19 (Hinxton)ENSG00000164506 [Gene_View]  chr6:147525494-147711612 [Contig_View]  STXBP5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164506 [Gene_View]  chr6:147525494-147711612 [Contig_View]  STXBP5 [Vega]
ICGC DataPortalENSG00000164506
TCGA cBioPortalSTXBP5
AceView (NCBI)STXBP5
Genatlas (Paris)STXBP5
WikiGenes134957
SOURCE (Princeton)STXBP5
Genetics Home Reference (NIH)STXBP5
Genomic and cartography
GoldenPath hg19 (UCSC)STXBP5  -     chr6:147525494-147711612 +  6q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)STXBP5  -     6q24.3   [Description]    (hg38-Dec_2013)
EnsemblSTXBP5 - 6q24.3 [CytoView hg19]  STXBP5 - 6q24.3 [CytoView hg38]
Mapping of homologs : NCBISTXBP5 [Mapview hg19]  STXBP5 [Mapview hg38]
OMIM604586   
Gene and transcription
Genbank (Entrez)AB073398 AI079651 AK055484 AK090549 AK128121
RefSeq transcript (Entrez)NM_001127715 NM_139244
RefSeq genomic (Entrez)NC_000006 NC_018917 NT_025741 NW_004929328
Consensus coding sequences : CCDS (NCBI)STXBP5
Cluster EST : UnigeneHs.736439 [ NCBI ]
CGAP (NCI)Hs.736439
Alternative Splicing GalleryENSG00000164506
Gene ExpressionSTXBP5 [ NCBI-GEO ]   STXBP5 [ EBI - ARRAY_EXPRESS ]   STXBP5 [ SEEK ]   STXBP5 [ MEM ]
Gene Expression Viewer (FireBrowse)STXBP5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)134957
GTEX Portal (Tissue expression)STXBP5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T5C0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T5C0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T5C0
Splice isoforms : SwissVarQ5T5C0
PhosPhoSitePlusQ5T5C0
Domaine pattern : Prosite (Expaxy)V_SNARE (PS50892)    WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)Lethal2_giant    Lgl_C_dom    LLGL2    Synaptobrevin    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)Lgl_C (PF08596)    LLGL (PF08366)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam08596    pfam08366    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)STXBP5
DMDM Disease mutations134957
Blocks (Seattle)STXBP5
SuperfamilyQ5T5C0
Human Protein AtlasENSG00000164506
Peptide AtlasQ5T5C0
HPRD06845
IPIIPI00171407   IPI00645854   IPI00640500   IPI00553037   IPI01015602   IPI00549912   
Protein Interaction databases
DIP (DOE-UCLA)Q5T5C0
IntAct (EBI)Q5T5C0
FunCoupENSG00000164506
BioGRIDSTXBP5
STRING (EMBL)STXBP5
ZODIACSTXBP5
Ontologies - Pathways
QuickGOQ5T5C0
Ontology : AmiGOcytoplasm  acetylcholine-gated channel complex  exocytosis  synaptic vesicle  regulation of gene expression  protein transport  syntaxin-1 binding  regulation of exocytosis  cell junction  regulation of blood coagulation  cytoplasmic vesicle membrane  positive regulation of exocytosis  
Ontology : EGO-EBIcytoplasm  acetylcholine-gated channel complex  exocytosis  synaptic vesicle  regulation of gene expression  protein transport  syntaxin-1 binding  regulation of exocytosis  cell junction  regulation of blood coagulation  cytoplasmic vesicle membrane  positive regulation of exocytosis  
NDEx NetworkSTXBP5
Atlas of Cancer Signalling NetworkSTXBP5
Wikipedia pathwaysSTXBP5
Orthology - Evolution
OrthoDB134957
GeneTree (enSembl)ENSG00000164506
Phylogenetic Trees/Animal Genes : TreeFamSTXBP5
HOVERGENQ5T5C0
HOGENOMQ5T5C0
Homologs : HomoloGeneSTXBP5
Homology/Alignments : Family Browser (UCSC)STXBP5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTXBP5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STXBP5
dbVarSTXBP5
ClinVarSTXBP5
1000_GenomesSTXBP5 
Exome Variant ServerSTXBP5
ExAC (Exome Aggregation Consortium)STXBP5 (select the gene name)
Genetic variants : HAPMAP134957
Genomic Variants (DGV)STXBP5 [DGVbeta]
DECIPHER (Syndromes)6:147525494-147711612  ENSG00000164506
CONAN: Copy Number AnalysisSTXBP5 
Mutations
ICGC Data PortalSTXBP5 
TCGA Data PortalSTXBP5 
Broad Tumor PortalSTXBP5
OASIS PortalSTXBP5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTXBP5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSTXBP5
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 STXBP5
DgiDB (Drug Gene Interaction Database)STXBP5
DoCM (Curated mutations)STXBP5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)STXBP5 (select a term)
intoGenSTXBP5
Cancer3DSTXBP5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604586   
Orphanet
MedgenSTXBP5
Genetic Testing Registry STXBP5
NextProtQ5T5C0 [Medical]
TSGene134957
GENETestsSTXBP5
Huge Navigator STXBP5 [HugePedia]
snp3D : Map Gene to Disease134957
BioCentury BCIQSTXBP5
ClinGenSTXBP5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD134957
Chemical/Pharm GKB GenePA134954258
Clinical trialSTXBP5
Miscellaneous
canSAR (ICR)STXBP5 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSTXBP5
EVEXSTXBP5
GoPubMedSTXBP5
iHOPSTXBP5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:47:01 CET 2017

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