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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 TBXAS1 |
 Gene summary |
| Gene information | Gene symbol | TBXAS1 | Gene ID | 6916 |
| Gene name | thromboxane A synthase 1 | |
| Synonyms | BDPLT14|CYP5|CYP5A1|GHOSAL|THAS|TS|TXAS|TXS | |
| Cytomap | 7q34 | |
| Type of gene | protein-coding | |
| Description | thromboxane-A synthaseTXA synthasecytochrome P450 5A1cytochrome P450, family 5, subfamily A, polypeptide 1platelet, cytochrome P450, subfamily Vthromboxane A synthase 1 (platelet) | |
| Modification date | 20180519 | |
| UniProtAcc | P24557 | |
| Context | PubMed: TBXAS1 [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 |
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Exon skipping events across known transcript of Ensembl for TBXAS1 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 TBXAS1 |
| 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 TBXAS1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_471614 | 7 | 139478198:139478270:139480538:139480623:139482464:139482528 | 139480538:139480623 | ENSG00000059377.11 | ENST00000481440.1,ENST00000336425.5,ENST00000263552.6 |
| exon_skip_471618 | 7 | 139478198:139478270:139482464:139482528:139487136:139487225 | 139482464:139482528 | ENSG00000059377.11 | ENST00000425687.1 |
| exon_skip_471626 | 7 | 139480538:139480623:139482286:139482363:139482464:139482528 | 139482286:139482363 | ENSG00000059377.11 | ENST00000473948.2 |
| exon_skip_471627 | 7 | 139480538:139480623:139482464:139482528:139487136:139487225 | 139482464:139482528 | ENSG00000059377.11 | ENST00000481440.1,ENST00000336425.5,ENST00000263552.6 |
| exon_skip_471632 | 7 | 139487136:139487225:139529110:139529278:139572033:139572127 | 139529110:139529278 | ENSG00000059377.11 | ENST00000438104.1,ENST00000336425.5,ENST00000263552.6 |
| exon_skip_471636 | 7 | 139575383:139575436:139605899:139605997:139611023:139611120 | 139605899:139605997 | ENSG00000059377.11 | ENST00000414041.1 |
| exon_skip_471637 | 7 | 139575383:139575436:139611023:139611120:139635989:139636034 | 139611023:139611120 | ENSG00000059377.11 | ENST00000414508.2,ENST00000448866.1,ENST00000438104.1,ENST00000458722.1,ENST00000425687.1,ENST00000436047.2,ENST00000411653.1,ENST00000336425.5,ENST00000416849.2,ENST00000263552.6 |
| exon_skip_471639 | 7 | 139635989:139636106:139652349:139652487:139653166:139653255 | 139652349:139652487 | ENSG00000059377.11 | ENST00000458722.1,ENST00000416849.2 |
| exon_skip_471640 | 7 | 139653233:139653255:139655257:139655406:139657432:139657563 | 139655257:139655406 | ENSG00000059377.11 | ENST00000414508.2,ENST00000448866.1,ENST00000469630.1,ENST00000458722.1,ENST00000425687.1,ENST00000436047.2,ENST00000411653.1,ENST00000422328.1,ENST00000336425.5,ENST00000416849.2,ENST00000263552.6,ENST00000462275.1 |
| exon_skip_471642 | 7 | 139706890:139706982:139715522:139715660:139717470:139717633 | 139715522:139715660 | ENSG00000059377.11 | ENST00000448866.1,ENST00000458722.1,ENST00000425687.1,ENST00000436047.2,ENST00000422328.1,ENST00000336425.5,ENST00000416849.2,ENST00000263552.6 |
| exon_skip_471643 | 7 | 139706890:139706982:139715522:139715660:139719824:139720079 | 139715522:139715660 | ENSG00000059377.11 | ENST00000414508.2,ENST00000411653.1 |
| exon_skip_471647 | 7 | 139715522:139715660:139717470:139717633:139719824:139720079 | 139717470:139717633 | ENSG00000059377.11 | ENST00000448866.1,ENST00000458722.1,ENST00000425687.1,ENST00000436047.2,ENST00000422328.1,ENST00000336425.5,ENST00000416849.2,ENST00000263552.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TBXAS1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_471614 | 7 | 139478198:139478270:139480538:139480623:139482464:139482528 | 139480538:139480623 | ENSG00000059377.11 | ENST00000263552.6,ENST00000481440.1,ENST00000336425.5 |
| exon_skip_471618 | 7 | 139478198:139478270:139482464:139482528:139487136:139487225 | 139482464:139482528 | ENSG00000059377.11 | ENST00000425687.1 |
| exon_skip_471626 | 7 | 139480538:139480623:139482286:139482363:139482464:139482528 | 139482286:139482363 | ENSG00000059377.11 | ENST00000473948.2 |
| exon_skip_471627 | 7 | 139480538:139480623:139482464:139482528:139487136:139487225 | 139482464:139482528 | ENSG00000059377.11 | ENST00000263552.6,ENST00000481440.1,ENST00000336425.5 |
| exon_skip_471632 | 7 | 139487136:139487225:139529110:139529278:139572033:139572127 | 139529110:139529278 | ENSG00000059377.11 | ENST00000263552.6,ENST00000438104.1,ENST00000336425.5 |
| exon_skip_471636 | 7 | 139575383:139575436:139605899:139605997:139611023:139611120 | 139605899:139605997 | ENSG00000059377.11 | ENST00000414041.1 |
| exon_skip_471637 | 7 | 139575383:139575436:139611023:139611120:139635989:139636034 | 139611023:139611120 | ENSG00000059377.11 | ENST00000425687.1,ENST00000263552.6,ENST00000438104.1,ENST00000336425.5,ENST00000416849.2,ENST00000436047.2,ENST00000414508.2,ENST00000448866.1,ENST00000458722.1,ENST00000411653.1 |
| exon_skip_471639 | 7 | 139635989:139636106:139652349:139652487:139653166:139653255 | 139652349:139652487 | ENSG00000059377.11 | ENST00000416849.2,ENST00000458722.1 |
| exon_skip_471640 | 7 | 139653233:139653255:139655257:139655406:139657432:139657563 | 139655257:139655406 | ENSG00000059377.11 | ENST00000425687.1,ENST00000263552.6,ENST00000336425.5,ENST00000416849.2,ENST00000436047.2,ENST00000414508.2,ENST00000448866.1,ENST00000422328.1,ENST00000458722.1,ENST00000411653.1,ENST00000462275.1,ENST00000469630.1 |
| exon_skip_471642 | 7 | 139706890:139706982:139715522:139715660:139717470:139717633 | 139715522:139715660 | ENSG00000059377.11 | ENST00000425687.1,ENST00000263552.6,ENST00000336425.5,ENST00000416849.2,ENST00000436047.2,ENST00000448866.1,ENST00000422328.1,ENST00000458722.1 |
| exon_skip_471643 | 7 | 139706890:139706982:139715522:139715660:139719824:139720079 | 139715522:139715660 | ENSG00000059377.11 | ENST00000414508.2,ENST00000411653.1 |
| exon_skip_471647 | 7 | 139715522:139715660:139717470:139717633:139719824:139720079 | 139717470:139717633 | ENSG00000059377.11 | ENST00000425687.1,ENST00000263552.6,ENST00000336425.5,ENST00000416849.2,ENST00000436047.2,ENST00000448866.1,ENST00000422328.1,ENST00000458722.1 |
| 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 TBXAS1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for TBXAS1 |
| 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 TBXAS1 |
| - 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_471632 | 139529111 | 139529278 | 139529223 | 139529223 | Frame_Shift_Del | A | - | p.N13fs |
| UCS | TCGA-N8-A4PP-01 | exon_skip_471647 | 139717471 | 139717633 | 139717541 | 139717550 | Frame_Shift_Del | TGCCTCGGGG | - | p.525_528del |
| UCS | TCGA-N8-A4PP-01 | exon_skip_471647 | 139717471 | 139717633 | 139717541 | 139717550 | Frame_Shift_Del | TGCCTCGGGG | - | p.CLGV480fs |
| SKCM | TCGA-D3-A8GM-06 | exon_skip_471643 exon_skip_471642 | 139715523 | 139715660 | 139715608 | 139715609 | Frame_Shift_Ins | - | A | p.A439fs |
| UCS | TCGA-N7-A59B-01 | exon_skip_471643 exon_skip_471642 | 139715523 | 139715660 | 139715631 | 139715631 | Nonsense_Mutation | G | A | p.W446* |
| UCS | TCGA-N7-A59B-01 | exon_skip_471643 exon_skip_471642 | 139715523 | 139715660 | 139715631 | 139715631 | Nonsense_Mutation | G | A | p.W492X |
| SKCM | TCGA-GN-A26C-01 | exon_skip_471647 | 139717471 | 139717633 | 139717613 | 139717613 | Nonsense_Mutation | C | T | p.Q504* |
| - 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 |
| ES4_BONE | 139529111 | 139529278 | 139529220 | 139529220 | Missense_Mutation | G | A | p.V11M |
| TGBC11TKB_STOMACH | 139611024 | 139611120 | 139611037 | 139611037 | Missense_Mutation | C | T | p.R84C |
| HCC1187_BREAST | 139611024 | 139611120 | 139611040 | 139611040 | Missense_Mutation | C | T | p.R85W |
| LB831BLC_URINARY_TRACT | 139652350 | 139652487 | 139652460 | 139652460 | Missense_Mutation | T | A | p.N187K |
| TGW_AUTONOMIC_GANGLIA | 139715523 | 139715660 | 139715547 | 139715547 | Missense_Mutation | C | A | p.D417E |
| TT_THYROID | 139715523 | 139715660 | 139715627 | 139715627 | Missense_Mutation | A | G | p.H444R |
| KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 139715523 | 139715660 | 139715639 | 139715639 | Missense_Mutation | C | T | p.P448L |
| P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 139715523 | 139715660 | 139715644 | 139715644 | Missense_Mutation | A | C | p.T450P |
| JIYOYEP2003_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 139715523 | 139715660 | 139715644 | 139715644 | Missense_Mutation | A | C | p.T450P |
| NCIBL128_MATCHED_NORMAL_TISSUE | 139717471 | 139717633 | 139717479 | 139717479 | Missense_Mutation | C | A | p.A458D |
| SNUC5_LARGE_INTESTINE | 139717471 | 139717633 | 139717494 | 139717494 | Missense_Mutation | A | G | p.Q463R |
| GP5D_LARGE_INTESTINE | 139717471 | 139717633 | 139717515 | 139717515 | Missense_Mutation | T | C | p.L470P |
| PACADD137_PANCREAS | 139717471 | 139717633 | 139717535 | 139717535 | Missense_Mutation | C | T | p.R477W |
| HCT116_LARGE_INTESTINE | 139715523 | 139715660 | 139715524 | 139715524 | Splice_Site | T | A | p.F410I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBXAS1 |
| 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 TBXAS1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBXAS1 |
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RelatedDrugs for TBXAS1 |
| 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 |
| P24557 | DB00795 | Sulfasalazine | Thromboxane-A synthase | small molecule | approved |
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RelatedDiseases for TBXAS1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TBXAS1 | C0013182 | Drug Allergy | 1 | CTD_human |
| TBXAS1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| TBXAS1 | C1856465 | Ghosal Hematodiaphyseal Dysplasia | 1 | CTD_human;ORPHANET;UNIPROT |
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