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STXBP6 (syntaxin binding protein 6 (amisyn))

Identity

Alias_symbol (synonym)amisyn
HSPC156
Other alias
HGNC (Hugo) STXBP6
LocusID (NCBI) 29091
Atlas_Id 74348
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 25278861 and ends at 25519503 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CDK6 (7q21.2) / STXBP6 (14q12)PTPRK (6q22.33) / STXBP6 (14q12)PTPRK STXBP6
CDK6 STXBP6

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)STXBP6   19666
Cards
Entrez_Gene (NCBI)STXBP6  29091  syntaxin binding protein 6 (amisyn)
AliasesHSPC156; amisyn
GeneCards (Weizmann)STXBP6
Ensembl hg19 (Hinxton)ENSG00000168952 [Gene_View]  chr14:25278861-25519503 [Contig_View]  STXBP6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000168952 [Gene_View]  chr14:25278861-25519503 [Contig_View]  STXBP6 [Vega]
ICGC DataPortalENSG00000168952
TCGA cBioPortalSTXBP6
AceView (NCBI)STXBP6
Genatlas (Paris)STXBP6
WikiGenes29091
SOURCE (Princeton)STXBP6
Genetics Home Reference (NIH)STXBP6
Genomic and cartography
GoldenPath hg19 (UCSC)STXBP6  -     chr14:25278861-25519503 -  14q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)STXBP6  -     14q12   [Description]    (hg38-Dec_2013)
EnsemblSTXBP6 - 14q12 [CytoView hg19]  STXBP6 - 14q12 [CytoView hg38]
Mapping of homologs : NCBISTXBP6 [Mapview hg19]  STXBP6 [Mapview hg38]
OMIM607958   
Gene and transcription
Genbank (Entrez)AF161505 AF391153 AK096957 AK309203 AL834346
RefSeq transcript (Entrez)NM_001304476 NM_001304477 NM_014178
RefSeq genomic (Entrez)NC_000014 NC_018925 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)STXBP6
Cluster EST : UnigeneHs.508958 [ NCBI ]
CGAP (NCI)Hs.508958
Alternative Splicing GalleryENSG00000168952
Gene ExpressionSTXBP6 [ NCBI-GEO ]   STXBP6 [ EBI - ARRAY_EXPRESS ]   STXBP6 [ SEEK ]   STXBP6 [ MEM ]
Gene Expression Viewer (FireBrowse)STXBP6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29091
GTEX Portal (Tissue expression)STXBP6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFX7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFX7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFX7
Splice isoforms : SwissVarQ8NFX7
PhosPhoSitePlusQ8NFX7
Domaine pattern : Prosite (Expaxy)V_SNARE (PS50892)   
Domains : Interpro (EBI)Sec3-PIP2_bind    Synaptobrevin   
Domain families : Pfam (Sanger)Sec3-PIP2_bind (PF15277)    Synaptobrevin (PF00957)   
Domain families : Pfam (NCBI)pfam15277    pfam00957   
Conserved Domain (NCBI)STXBP6
DMDM Disease mutations29091
Blocks (Seattle)STXBP6
SuperfamilyQ8NFX7
Human Protein AtlasENSG00000168952
Peptide AtlasQ8NFX7
IPIIPI00178314   IPI00181394   IPI00163647   IPI01022520   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFX7
IntAct (EBI)Q8NFX7
FunCoupENSG00000168952
BioGRIDSTXBP6
STRING (EMBL)STXBP6
ZODIACSTXBP6
Ontologies - Pathways
QuickGOQ8NFX7
Ontology : AmiGOexocyst  phosphatidylinositol-4,5-bisphosphate binding  plasma membrane  exocytosis  Golgi to plasma membrane transport  integral component of membrane  GTP-Rho binding  regulation of SNARE complex assembly  negative regulation of exocytosis  exocyst localization  
Ontology : EGO-EBIexocyst  phosphatidylinositol-4,5-bisphosphate binding  plasma membrane  exocytosis  Golgi to plasma membrane transport  integral component of membrane  GTP-Rho binding  regulation of SNARE complex assembly  negative regulation of exocytosis  exocyst localization  
NDEx NetworkSTXBP6
Atlas of Cancer Signalling NetworkSTXBP6
Wikipedia pathwaysSTXBP6
Orthology - Evolution
OrthoDB29091
GeneTree (enSembl)ENSG00000168952
Phylogenetic Trees/Animal Genes : TreeFamSTXBP6
HOVERGENQ8NFX7
HOGENOMQ8NFX7
Homologs : HomoloGeneSTXBP6
Homology/Alignments : Family Browser (UCSC)STXBP6
Gene fusions - Rearrangements
Fusion: TCGAPTPRK STXBP6
Fusion: TCGACDK6 STXBP6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTXBP6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STXBP6
dbVarSTXBP6
ClinVarSTXBP6
1000_GenomesSTXBP6 
Exome Variant ServerSTXBP6
ExAC (Exome Aggregation Consortium)STXBP6 (select the gene name)
Genetic variants : HAPMAP29091
Genomic Variants (DGV)STXBP6 [DGVbeta]
DECIPHER (Syndromes)14:25278861-25519503  ENSG00000168952
CONAN: Copy Number AnalysisSTXBP6 
Mutations
ICGC Data PortalSTXBP6 
TCGA Data PortalSTXBP6 
Broad Tumor PortalSTXBP6
OASIS PortalSTXBP6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTXBP6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSTXBP6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch STXBP6
DgiDB (Drug Gene Interaction Database)STXBP6
DoCM (Curated mutations)STXBP6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)STXBP6 (select a term)
intoGenSTXBP6
Cancer3DSTXBP6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607958   
Orphanet
MedgenSTXBP6
Genetic Testing Registry STXBP6
NextProtQ8NFX7 [Medical]
TSGene29091
GENETestsSTXBP6
Huge Navigator STXBP6 [HugePedia]
snp3D : Map Gene to Disease29091
BioCentury BCIQSTXBP6
ClinGenSTXBP6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29091
Chemical/Pharm GKB GenePA134985567
Clinical trialSTXBP6
Miscellaneous
canSAR (ICR)STXBP6 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSTXBP6
EVEXSTXBP6
GoPubMedSTXBP6
iHOPSTXBP6
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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