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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for STXBP6 |
Gene summary |
Gene information | Gene symbol | STXBP6 | Gene ID | 29091 |
Gene name | syntaxin binding protein 6 | |
Synonyms | HSPC156|amisyn | |
Cytomap | 14q12 | |
Type of gene | protein-coding | |
Description | syntaxin-binding protein 6 | |
Modification date | 20200313 | |
UniProtAcc | F8VZZ2, Q8NFX7, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
STXBP6 | GO:0035542 | regulation of SNARE complex assembly | 12145319 |
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Gene structures and expression levels for STXBP6 |
Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for STXBP6 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_109203 | chr14 | 24812492:24812732:24819037:24819194:24855936:24856101 | 24819037:24819194 |
exon_skip_112986 | chr14 | 24974665:24974850:24987886:24987972:25049878:25049894 | 24987886:24987972 |
exon_skip_155551 | chr14 | 24857051:24857157:24878652:24878813:24974665:24974850 | 24878652:24878813 |
exon_skip_169262 | chr14 | 24857027:24857157:24974665:24974850:25049878:25049894 | 24974665:24974850 |
exon_skip_261413 | chr14 | 24857027:24857157:24974665:24974850:25010525:25010640 | 24974665:24974850 |
exon_skip_273994 | chr14 | 24974665:24974850:24994864:24994984:25010525:25010640 | 24994864:24994984 |
exon_skip_293677 | chr14 | 24857027:24857157:24974665:24974850:25049207:25049889 | 24974665:24974850 |
exon_skip_42214 | chr14 | 24857095:24857157:24878652:24878813:24974665:24974850 | 24878652:24878813 |
exon_skip_98654 | chr14 | 24857027:24857157:24878652:24878813:24974665:24974850 | 24878652:24878813 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for STXBP6 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000323944 | 24974665 | 24974850 | 3UTR-3CDS |
ENST00000419632 | 24974665 | 24974850 | 3UTR-3CDS |
ENST00000550887 | 24994864 | 24994984 | 3UTR-3UTR |
ENST00000323944 | 24819037 | 24819194 | Frame-shift |
ENST00000396700 | 24819037 | 24819194 | Frame-shift |
ENST00000419632 | 24819037 | 24819194 | Frame-shift |
ENST00000546511 | 24819037 | 24819194 | Frame-shift |
ENST00000550887 | 24819037 | 24819194 | Frame-shift |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000323944 | 24974665 | 24974850 | 3UTR-3CDS |
ENST00000550887 | 24994864 | 24994984 | 3UTR-3UTR |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000323944 | 24974665 | 24974850 | 3UTR-3CDS |
ENST00000396700 | 24974665 | 24974850 | 3UTR-3CDS |
ENST00000419632 | 24974665 | 24974850 | 3UTR-3CDS |
ENST00000550887 | 24994864 | 24994984 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for STXBP6 |
p-ENSG00000168952_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Lost protein functional features of individual exon skipping events in ROSMAP. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in MSBB. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in Mayo. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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3'-UTR located exon skipping events that lost miRNA binding sites in STXBP6 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Mayo | ENST00000550887 | 24994864 | 24994984 | hsa-miR-4695-3p | chr14:24994957-24994964 | 8mer-1a | chr14:24994954-24994976 | 163.00 | -23.53 |
Mayo | ENST00000550887 | 24994864 | 24994984 | hsa-miR-6778-3p | chr14:24994934-24994941 | 8mer-1a | chr14:24994927-24994948 | 170.00 | -37.02 |
Mayo | ENST00000550887 | 24994864 | 24994984 | hsa-miR-1180-5p | chr14:24994917-24994924 | 8mer-1a | chr14:24994904-24994924 | 159.00 | -28.23 |
Mayo | ENST00000550887 | 24994864 | 24994984 | hsa-miR-6787-3p | chr14:24994954-24994961 | 8mer-1a | chr14:24994954-24994976 | 163.00 | -23.53 |
Mayo | ENST00000550887 | 24994864 | 24994984 | hsa-miR-6849-3p | chr14:24994943-24994950 | 8mer-1a | chr14:24994937-24994961 | 158.00 | -27.63 |
Mayo | ENST00000550887 | 24994864 | 24994984 | hsa-miR-7114-3p | chr14:24994917-24994924 | 8mer-1a | chr14:24994904-24994924 | 159.00 | -28.23 |
MSBB | ENST00000550887 | 24994864 | 24994984 | hsa-miR-4695-3p | chr14:24994957-24994964 | 8mer-1a | chr14:24994954-24994976 | 163.00 | -23.53 |
MSBB | ENST00000550887 | 24994864 | 24994984 | hsa-miR-6778-3p | chr14:24994934-24994941 | 8mer-1a | chr14:24994927-24994948 | 170.00 | -37.02 |
MSBB | ENST00000550887 | 24994864 | 24994984 | hsa-miR-1180-5p | chr14:24994917-24994924 | 8mer-1a | chr14:24994904-24994924 | 159.00 | -28.23 |
MSBB | ENST00000550887 | 24994864 | 24994984 | hsa-miR-6787-3p | chr14:24994954-24994961 | 8mer-1a | chr14:24994954-24994976 | 163.00 | -23.53 |
MSBB | ENST00000550887 | 24994864 | 24994984 | hsa-miR-6849-3p | chr14:24994943-24994950 | 8mer-1a | chr14:24994937-24994961 | 158.00 | -27.63 |
MSBB | ENST00000550887 | 24994864 | 24994984 | hsa-miR-7114-3p | chr14:24994917-24994924 | 8mer-1a | chr14:24994904-24994924 | 159.00 | -28.23 |
ROSMAP | ENST00000550887 | 24994864 | 24994984 | hsa-miR-4695-3p | chr14:24994957-24994964 | 8mer-1a | chr14:24994954-24994976 | 163.00 | -23.53 |
ROSMAP | ENST00000550887 | 24994864 | 24994984 | hsa-miR-6778-3p | chr14:24994934-24994941 | 8mer-1a | chr14:24994927-24994948 | 170.00 | -37.02 |
ROSMAP | ENST00000550887 | 24994864 | 24994984 | hsa-miR-1180-5p | chr14:24994917-24994924 | 8mer-1a | chr14:24994904-24994924 | 159.00 | -28.23 |
ROSMAP | ENST00000550887 | 24994864 | 24994984 | hsa-miR-6787-3p | chr14:24994954-24994961 | 8mer-1a | chr14:24994954-24994976 | 163.00 | -23.53 |
ROSMAP | ENST00000550887 | 24994864 | 24994984 | hsa-miR-6849-3p | chr14:24994943-24994950 | 8mer-1a | chr14:24994937-24994961 | 158.00 | -27.63 |
ROSMAP | ENST00000550887 | 24994864 | 24994984 | hsa-miR-7114-3p | chr14:24994917-24994924 | 8mer-1a | chr14:24994904-24994924 | 159.00 | -28.23 |
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SNVs in the skipped exons for STXBP6 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for STXBP6 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STXBP6 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for STXBP6 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
IFG | RBM5 | exon_skip_112986 | -4.483676e-01 | 2.160226e-02 |
TC | HNRNPDL | exon_skip_112986 | 4.091598e-01 | 1.137152e-07 |
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RelatedDrugs for STXBP6 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for STXBP6 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |