Atlas of Genetics and Cytogenetics in Oncology and Haematology


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STXBP6 (syntaxin binding protein 6)

Identity

Alias (NCBI)HSPC156
amisyn
HGNC (Hugo) STXBP6
HGNC Alias symbamisyn
HSPC156
LocusID (NCBI) 29091
Atlas_Id 57668
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 24809655 and ends at 25049889 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CDK6 (7q21.2) / STXBP6 (14q12)PTPRK (6q22.33) / STXBP6 (14q12)

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    syntaxin binding protein 6
AliasesHSPC156; amisyn
GeneCards (Weizmann)STXBP6
Ensembl hg19 (Hinxton)ENSG00000168952 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168952 [Gene_View]  ENSG00000168952 [Sequence]  chr14:24809655-25049889 [Contig_View]  STXBP6 [Vega]
ICGC DataPortalENSG00000168952
TCGA cBioPortalSTXBP6
AceView (NCBI)STXBP6
Genatlas (Paris)STXBP6
SOURCE (Princeton)STXBP6
Genetics Home Reference (NIH)STXBP6
Genomic and cartography
GoldenPath hg38 (UCSC)STXBP6  -     chr14:24809655-25049889 -  14q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)STXBP6  -     14q12   [Description]    (hg19-Feb_2009)
GoldenPathSTXBP6 - 14q12 [CytoView hg19]  STXBP6 - 14q12 [CytoView hg38]
ImmunoBaseENSG00000168952
Genome Data Viewer NCBISTXBP6 [Mapview hg19]  
OMIM607958   
Gene and transcription
Genbank (Entrez)AF161505 AF391153 AK096957 AK309203 AL834346
RefSeq transcript (Entrez)NM_001304476 NM_001304477 NM_001351940 NM_001351941 NM_001351942 NM_001351943 NM_001394410 NM_001394411 NM_001394412 NM_001394413 NM_001394414 NM_001394415 NM_001394416 NM_001394417 NM_001394418 NM_001394419 NM_001394420 NM_014178
Consensus coding sequences : CCDS (NCBI)STXBP6
Gene ExpressionSTXBP6 [ NCBI-GEO ]   STXBP6 [ EBI - ARRAY_EXPRESS ]   STXBP6 [ SEEK ]   STXBP6 [ MEM ]
Gene Expression Viewer (FireBrowse)STXBP6 [ Firebrowse - Broad ]
GenevisibleExpression of STXBP6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29091
GTEX Portal (Tissue expression)STXBP6
Human Protein AtlasENSG00000168952-STXBP6 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ8NFX7
Domaine pattern : Prosite (Expaxy)V_SNARE (PS50892)   
Domains : Interpro (EBI)Sec3-PIP2_bind    STXBP6_PH    STXBP6_SNARE    Synaptobrevin    V_SNARE_CC   
Domain families : Pfam (Sanger)Sec3-PIP2_bind (PF15277)    Synaptobrevin (PF00957)   
Domain families : Pfam (NCBI)pfam15277    pfam00957   
Domain families : Smart (EMBL)Sec3-PIP2_bind (SM01313)  
Conserved Domain (NCBI)STXBP6
SuperfamilyQ8NFX7
AlphaFold pdb e-kbQ8NFX7   
Human Protein Atlas [tissue]ENSG00000168952-STXBP6 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q8NFX7
IntAct (EBI)Q8NFX7
BioGRIDSTXBP6
STRING (EMBL)STXBP6
ZODIACSTXBP6
Ontologies - Pathways
QuickGOQ8NFX7
Ontology : AmiGOexocyst  phosphatidylinositol-4,5-bisphosphate binding  plasma membrane  adherens junction  exocytosis  Golgi to plasma membrane transport  integral component of membrane  SNARE complex assembly  regulation of SNARE complex assembly  negative regulation of exocytosis  cell-cell adhesion  cadherin binding involved in cell-cell adhesion  
Ontology : EGO-EBIexocyst  phosphatidylinositol-4,5-bisphosphate binding  plasma membrane  adherens junction  exocytosis  Golgi to plasma membrane transport  integral component of membrane  SNARE complex assembly  regulation of SNARE complex assembly  negative regulation of exocytosis  cell-cell adhesion  cadherin binding involved in cell-cell adhesion  
NDEx NetworkSTXBP6
Atlas of Cancer Signalling NetworkSTXBP6
Wikipedia pathwaysSTXBP6
Orthology - Evolution
OrthoDB29091
GeneTree (enSembl)ENSG00000168952
Phylogenetic Trees/Animal Genes : TreeFamSTXBP6
Homologs : HomoloGeneSTXBP6
Homology/Alignments : Family Browser (UCSC)STXBP6
Gene fusions - Rearrangements
Fusion : QuiverSTXBP6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTXBP6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STXBP6
dbVarSTXBP6
ClinVarSTXBP6
MonarchSTXBP6
1000_GenomesSTXBP6 
Exome Variant ServerSTXBP6
GNOMAD BrowserENSG00000168952
Varsome BrowserSTXBP6
ACMGSTXBP6 variants
VarityQ8NFX7
Genomic Variants (DGV)STXBP6 [DGVbeta]
DECIPHERSTXBP6 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DSTXBP6
Mutations and Diseases : HGMDSTXBP6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSTXBP6
DgiDB (Drug Gene Interaction Database)STXBP6
DoCM (Curated mutations)STXBP6
CIViC (Clinical Interpretations of Variants in Cancer)STXBP6
Cancer3DSTXBP6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607958   
Orphanet
DisGeNETSTXBP6
MedgenSTXBP6
Genetic Testing Registry STXBP6
NextProtQ8NFX7 [Medical]
GENETestsSTXBP6
Target ValidationSTXBP6
Huge Navigator STXBP6 [HugePedia]
ClinGenSTXBP6
Clinical trials, drugs, therapy
MyCancerGenomeSTXBP6
Protein Interactions : CTDSTXBP6
Pharm GKB GenePA134985567
PharosQ8NFX7
Clinical trialSTXBP6
Miscellaneous
canSAR (ICR)STXBP6
HarmonizomeSTXBP6
DataMed IndexSTXBP6
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSTXBP6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:33:47 CEST 2021

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