Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

STXBP5L (syntaxin binding protein 5 like)

Identity

Alias_namessyntaxin binding protein 5-like
Alias_symbol (synonym)KIAA1006
LLGL4
Other alias
HGNC (Hugo) STXBP5L
LocusID (NCBI) 9515
Atlas_Id 54675
Location 3q13.33  [Link to chromosome band 3q13]
Location_base_pair Starts at 120908203 and ends at 121424761 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DCBLD2 (3q12.1) / STXBP5L (3q13.33)GANAB (11q12.3) / STXBP5L (3q13.33)GRM4 (6p21.31) / STXBP5L (3q13.33)
PAX9 (14q13.3) / STXBP5L (3q13.33)STAG1 (3q22.3) / STXBP5L (3q13.33)STXBP5L (3q13.33) / STAG1 (3q22.3)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)STXBP5L   30757
Cards
Entrez_Gene (NCBI)STXBP5L  9515  syntaxin binding protein 5 like
AliasesLLGL4
GeneCards (Weizmann)STXBP5L
Ensembl hg19 (Hinxton)ENSG00000145087 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145087 [Gene_View]  chr3:120908203-121424761 [Contig_View]  STXBP5L [Vega]
ICGC DataPortalENSG00000145087
TCGA cBioPortalSTXBP5L
AceView (NCBI)STXBP5L
Genatlas (Paris)STXBP5L
WikiGenes9515
SOURCE (Princeton)STXBP5L
Genetics Home Reference (NIH)STXBP5L
Genomic and cartography
GoldenPath hg38 (UCSC)STXBP5L  -     chr3:120908203-121424761 +  3q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)STXBP5L  -     3q13.33   [Description]    (hg19-Feb_2009)
EnsemblSTXBP5L - 3q13.33 [CytoView hg19]  STXBP5L - 3q13.33 [CytoView hg38]
Mapping of homologs : NCBISTXBP5L [Mapview hg19]  STXBP5L [Mapview hg38]
OMIM609381   
Gene and transcription
Genbank (Entrez)AB023223 AI279148 AK296544 BC022029 BC037531
RefSeq transcript (Entrez)NM_001308330 NM_001348343 NM_001348344 NM_001348345 NM_014980
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)STXBP5L
Cluster EST : UnigeneHs.477315 [ NCBI ]
CGAP (NCI)Hs.477315
Alternative Splicing GalleryENSG00000145087
Gene ExpressionSTXBP5L [ NCBI-GEO ]   STXBP5L [ EBI - ARRAY_EXPRESS ]   STXBP5L [ SEEK ]   STXBP5L [ MEM ]
Gene Expression Viewer (FireBrowse)STXBP5L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9515
GTEX Portal (Tissue expression)STXBP5L
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2K9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2K9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2K9
Splice isoforms : SwissVarQ9Y2K9
PhosPhoSitePlusQ9Y2K9
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)STXBP5L
DMDM Disease mutations9515
Blocks (Seattle)STXBP5L
SuperfamilyQ9Y2K9
Human Protein AtlasENSG00000145087
Peptide AtlasQ9Y2K9
IPIIPI00852648   IPI00643020   IPI00945200   IPI00945536   IPI00945743   IPI00946571   IPI00946062   IPI00947060   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2K9
IntAct (EBI)Q9Y2K9
FunCoupENSG00000145087
BioGRIDSTXBP5L
STRING (EMBL)STXBP5L
ZODIACSTXBP5L
Ontologies - Pathways
QuickGOQ9Y2K9
Ontology : AmiGOGTPase activator activity  cytoplasm  plasma membrane  exocytosis  protein transport  integral component of membrane  Rab GTPase binding  regulation of exocytosis  syntaxin binding  glucose homeostasis  positive regulation of GTPase activity  negative regulation of insulin secretion  regulation of protein secretion  positive regulation of protein secretion  
Ontology : EGO-EBIGTPase activator activity  cytoplasm  plasma membrane  exocytosis  protein transport  integral component of membrane  Rab GTPase binding  regulation of exocytosis  syntaxin binding  glucose homeostasis  positive regulation of GTPase activity  negative regulation of insulin secretion  regulation of protein secretion  positive regulation of protein secretion  
NDEx NetworkSTXBP5L
Atlas of Cancer Signalling NetworkSTXBP5L
Wikipedia pathwaysSTXBP5L
Orthology - Evolution
OrthoDB9515
GeneTree (enSembl)ENSG00000145087
Phylogenetic Trees/Animal Genes : TreeFamSTXBP5L
HOVERGENQ9Y2K9
HOGENOMQ9Y2K9
Homologs : HomoloGeneSTXBP5L
Homology/Alignments : Family Browser (UCSC)STXBP5L
Gene fusions - Rearrangements
Fusion : MitelmanSTAG1/STXBP5L [3q22.3/3q13.33]  [t(3;3)(q13;q22)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTXBP5L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STXBP5L
dbVarSTXBP5L
ClinVarSTXBP5L
1000_GenomesSTXBP5L 
Exome Variant ServerSTXBP5L
ExAC (Exome Aggregation Consortium)STXBP5L (select the gene name)
Genetic variants : HAPMAP9515
Genomic Variants (DGV)STXBP5L [DGVbeta]
DECIPHERSTXBP5L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSTXBP5L 
Mutations
ICGC Data PortalSTXBP5L 
TCGA Data PortalSTXBP5L 
Broad Tumor PortalSTXBP5L
OASIS PortalSTXBP5L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTXBP5L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSTXBP5L
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 STXBP5L
DgiDB (Drug Gene Interaction Database)STXBP5L
DoCM (Curated mutations)STXBP5L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)STXBP5L (select a term)
intoGenSTXBP5L
Cancer3DSTXBP5L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609381   
Orphanet
MedgenSTXBP5L
Genetic Testing Registry STXBP5L
NextProtQ9Y2K9 [Medical]
TSGene9515
GENETestsSTXBP5L
Target ValidationSTXBP5L
Huge Navigator STXBP5L [HugePedia]
snp3D : Map Gene to Disease9515
BioCentury BCIQSTXBP5L
ClinGenSTXBP5L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9515
Chemical/Pharm GKB GenePA134976391
Clinical trialSTXBP5L
Miscellaneous
canSAR (ICR)STXBP5L (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSTXBP5L
EVEXSTXBP5L
GoPubMedSTXBP5L
iHOPSTXBP5L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:58:05 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.