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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180523 | |
| UniProtAcc | Q8NFX7 | |
| Context | PubMed: STXBP6 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for STXBP6 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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. |
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Gene isoform structures and expression levels for STXBP6 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for STXBP6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112267 | 14 | 25281697:25281938:25288242:25288400:25325141:25325307 | 25288242:25288400 | ENSG00000168952.11 | ENST00000419632.2,ENST00000550887.1,ENST00000323944.5,ENST00000546511.1,ENST00000548724.1,ENST00000396700.1 |
| exon_skip_112273 | 14 | 25326232:25326363:25347857:25348019:25443870:25444056 | 25347857:25348019 | ENSG00000168952.11 | ENST00000548182.1 |
| exon_skip_112276 | 14 | 25326232:25326363:25443870:25444056:25479730:25479846 | 25443870:25444056 | ENSG00000168952.11 | ENST00000548724.1,ENST00000396700.1 |
| exon_skip_112278 | 14 | 25326232:25326363:25443870:25444056:25518412:25518505 | 25443870:25444056 | ENSG00000168952.11 | ENST00000419632.2 |
| exon_skip_112279 | 14 | 25326232:25326363:25443870:25444056:25519083:25519100 | 25443870:25444056 | ENSG00000168952.11 | ENST00000323944.5,ENST00000358326.2 |
| exon_skip_112305 | 14 | 25443870:25444056:25457091:25457178:25519083:25519100 | 25457091:25457178 | ENSG00000168952.11 | ENST00000548182.1 |
| exon_skip_112307 | 14 | 25443870:25444056:25464069:25464190:25479730:25479846 | 25464069:25464190 | ENSG00000168952.11 | ENST00000550887.1 |
| exon_skip_112315 | 14 | 25443870:25444056:25479730:25479846:25519083:25519100 | 25479730:25479846 | ENSG00000168952.11 | ENST00000548724.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for STXBP6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112267 | 14 | 25281697:25281938:25288242:25288400:25325141:25325307 | 25288242:25288400 | ENSG00000168952.11 | ENST00000396700.1,ENST00000548724.1,ENST00000323944.5,ENST00000419632.2,ENST00000546511.1,ENST00000550887.1 |
| exon_skip_112273 | 14 | 25326232:25326363:25347857:25348019:25443870:25444056 | 25347857:25348019 | ENSG00000168952.11 | ENST00000548182.1 |
| exon_skip_112276 | 14 | 25326232:25326363:25443870:25444056:25479730:25479846 | 25443870:25444056 | ENSG00000168952.11 | ENST00000396700.1,ENST00000548724.1 |
| exon_skip_112278 | 14 | 25326232:25326363:25443870:25444056:25518412:25518505 | 25443870:25444056 | ENSG00000168952.11 | ENST00000419632.2 |
| exon_skip_112279 | 14 | 25326232:25326363:25443870:25444056:25519083:25519100 | 25443870:25444056 | ENSG00000168952.11 | ENST00000323944.5,ENST00000358326.2 |
| exon_skip_112305 | 14 | 25443870:25444056:25457091:25457178:25519083:25519100 | 25457091:25457178 | ENSG00000168952.11 | ENST00000548182.1 |
| exon_skip_112307 | 14 | 25443870:25444056:25464069:25464190:25479730:25479846 | 25464069:25464190 | ENSG00000168952.11 | ENST00000550887.1 |
| exon_skip_112315 | 14 | 25443870:25444056:25479730:25479846:25519083:25519100 | 25479730:25479846 | ENSG00000168952.11 | ENST00000548724.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000323944 | 25443870 | 25444056 | 3UTR-3CDS |
| ENST00000396700 | 25443870 | 25444056 | 3UTR-3CDS |
| ENST00000419632 | 25443870 | 25444056 | 3UTR-3CDS |
| ENST00000550887 | 25464069 | 25464190 | 3UTR-3UTR |
| ENST00000323944 | 25288242 | 25288400 | Frame-shift |
| ENST00000396700 | 25288242 | 25288400 | Frame-shift |
| ENST00000419632 | 25288242 | 25288400 | Frame-shift |
| ENST00000546511 | 25288242 | 25288400 | Frame-shift |
| ENST00000550887 | 25288242 | 25288400 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000323944 | 25443870 | 25444056 | 3UTR-3CDS |
| ENST00000396700 | 25443870 | 25444056 | 3UTR-3CDS |
| ENST00000419632 | 25443870 | 25444056 | 3UTR-3CDS |
| ENST00000550887 | 25464069 | 25464190 | 3UTR-3UTR |
| ENST00000323944 | 25288242 | 25288400 | Frame-shift |
| ENST00000396700 | 25288242 | 25288400 | Frame-shift |
| ENST00000419632 | 25288242 | 25288400 | Frame-shift |
| ENST00000546511 | 25288242 | 25288400 | Frame-shift |
| ENST00000550887 | 25288242 | 25288400 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for STXBP6 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 GTEx 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 TCGA. |
| 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 GTEx. |
| 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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SNVs in the skipped exons for STXBP6 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| PRAD | TCGA-KK-A59V-01 | exon_skip_112278 exon_skip_112276 exon_skip_112279 | 25443871 | 25444056 | 25443930 | 25443931 | Frame_Shift_Del | TT | - | p.K32fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_112278 exon_skip_112276 exon_skip_112279 | 25443871 | 25444056 | 25443989 | 25443989 | Frame_Shift_Del | A | - | p.F12fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_112267 | 25288243 | 25288400 | 25288317 | 25288317 | Nonsense_Mutation | G | A | p.R179* |
| PAAD | TCGA-IB-7651-01 | exon_skip_112267 | 25288243 | 25288400 | 25288317 | 25288317 | Nonsense_Mutation | G | A | p.R179X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| NCIH2087_LUNG | 25288243 | 25288400 | 25288333 | 25288333 | Missense_Mutation | C | G | p.L173F |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25288243 | 25288400 | 25288377 | 25288377 | Missense_Mutation | C | T | p.A159T |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25443871 | 25444056 | 25443949 | 25443949 | Missense_Mutation | T | G | p.K26Q |
| HPAC_PANCREAS | 25443871 | 25444056 | 25443966 | 25443966 | Missense_Mutation | A | G | p.L20P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STXBP6 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STXBP6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STXBP6 |
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RelatedDrugs for STXBP6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
| STXBP6 | C0004352 | Autistic Disorder | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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