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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 USP9X |
 Gene summary |
| Gene information | Gene symbol | USP9X | Gene ID | 8239 |
| Gene name | ubiquitin specific peptidase 9 X-linked | |
| Synonyms | DFFRX|FAF|FAM|MRX99|MRXS99F | |
| Cytomap | Xp11.4 | |
| Type of gene | protein-coding | |
| Description | probable ubiquitin carboxyl-terminal hydrolase FAF-XDrosophila fat facets related, X-linkeddeubiquitinating enzyme FAF-Xfat facets in mammalsfat facets protein related, X-linkedhFAMubiquitin specific protease 9, X chromosome (fat facets-like Drosoph | |
| Modification date | 20180523 | |
| UniProtAcc | Q93008 | |
| Context | PubMed: USP9X [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 |
| USP9X | GO:0016579 | protein deubiquitination | 19135894 |
| USP9X | GO:0030509 | BMP signaling pathway | 19135894 |
| USP9X | GO:1901537 | positive regulation of DNA demethylation | 25944111 |
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Exon skipping events across known transcript of Ensembl for USP9X 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 USP9X |
| 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 USP9X |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509782 | X | 40944887:40945362:40982723:40982977:40988252:40988398 | 40982723:40982977 | ENSG00000124486.8 | ENST00000324545.8 |
| exon_skip_509783 | X | 40993977:40994090:40996056:40996275:40999908:41000024 | 40996056:40996275 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509784 | X | 41000545:41000684:41002543:41002696:41003774:41003879 | 41002543:41002696 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509786 | X | 41007621:41007828:41010173:41010310:41012200:41012334 | 41010173:41010310 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509787 | X | 41012200:41012334:41022042:41022130:41025124:41025467 | 41022042:41022130 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509788 | X | 41029722:41029872:41031090:41031211:41043250:41043381 | 41031090:41031211 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509790 | X | 41043649:41043928:41045769:41045895:41047244:41047370 | 41045769:41045895 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509791 | X | 41048561:41048728:41055503:41055612:41055844:41055991 | 41055503:41055612 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509792 | X | 41055503:41055612:41055844:41055991:41056616:41056763 | 41055844:41055991 | ENSG00000124486.8 | ENST00000462850.1,ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509794 | X | 41057780:41058003:41060312:41060533:41064555:41064746 | 41060312:41060533 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509795 | X | 41060312:41060533:41064555:41064746:41069761:41069907 | 41064555:41064746 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509796 | X | 41064555:41064746:41069761:41069935:41073820:41073962 | 41069761:41069935 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509797 | X | 41069761:41069935:41073820:41073962:41075151:41075905 | 41073820:41073962 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509799 | X | 41077624:41077850:41078354:41078484:41082469:41082655 | 41078354:41078484 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509801 | X | 41078354:41078484:41082469:41082655:41083994:41084215 | 41082469:41082655 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| exon_skip_509803 | X | 41084301:41084390:41088505:41088662:41088819:41089032 | 41088505:41088662 | ENSG00000124486.8 | ENST00000324545.8,ENST00000378308.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for USP9X |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509782 | X | 40944887:40945362:40982723:40982977:40988252:40988398 | 40982723:40982977 | ENSG00000124486.8 | ENST00000324545.8 |
| exon_skip_509783 | X | 40993977:40994090:40996056:40996275:40999908:41000024 | 40996056:40996275 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509784 | X | 41000545:41000684:41002543:41002696:41003774:41003879 | 41002543:41002696 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509786 | X | 41007621:41007828:41010173:41010310:41012200:41012334 | 41010173:41010310 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509787 | X | 41012200:41012334:41022042:41022130:41025124:41025467 | 41022042:41022130 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509788 | X | 41029722:41029872:41031090:41031211:41043250:41043381 | 41031090:41031211 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509790 | X | 41043649:41043928:41045769:41045895:41047244:41047370 | 41045769:41045895 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509791 | X | 41048561:41048728:41055503:41055612:41055844:41055991 | 41055503:41055612 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509792 | X | 41055503:41055612:41055844:41055991:41056616:41056763 | 41055844:41055991 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8,ENST00000462850.1 |
| exon_skip_509794 | X | 41057780:41058003:41060312:41060533:41064555:41064746 | 41060312:41060533 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509795 | X | 41060312:41060533:41064555:41064746:41069761:41069907 | 41064555:41064746 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509796 | X | 41064555:41064746:41069761:41069935:41073820:41073962 | 41069761:41069935 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509797 | X | 41069761:41069935:41073820:41073962:41075151:41075905 | 41073820:41073962 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509799 | X | 41077624:41077850:41078354:41078484:41082469:41082655 | 41078354:41078484 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509801 | X | 41078354:41078484:41082469:41082655:41083994:41084215 | 41082469:41082655 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| exon_skip_509803 | X | 41084301:41084390:41088505:41088662:41088819:41089032 | 41088505:41088662 | ENSG00000124486.8 | ENST00000378308.2,ENST00000324545.8 |
| 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 USP9X |
| 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 |
| ENST00000378308 | 41010173 | 41010310 | Frame-shift |
| ENST00000378308 | 41022042 | 41022130 | Frame-shift |
| ENST00000378308 | 41031090 | 41031211 | Frame-shift |
| ENST00000378308 | 41055503 | 41055612 | Frame-shift |
| ENST00000378308 | 41060312 | 41060533 | Frame-shift |
| ENST00000378308 | 41064555 | 41064746 | Frame-shift |
| ENST00000378308 | 41073820 | 41073962 | Frame-shift |
| ENST00000378308 | 41078354 | 41078484 | Frame-shift |
| ENST00000378308 | 41088505 | 41088662 | Frame-shift |
| ENST00000378308 | 40996056 | 40996275 | In-frame |
| ENST00000378308 | 41002543 | 41002696 | In-frame |
| ENST00000378308 | 41045769 | 41045895 | In-frame |
| ENST00000378308 | 41055844 | 41055991 | In-frame |
| ENST00000378308 | 41069761 | 41069935 | In-frame |
| ENST00000378308 | 41082469 | 41082655 | In-frame |
| 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 |
| ENST00000378308 | 41010173 | 41010310 | Frame-shift |
| ENST00000378308 | 41022042 | 41022130 | Frame-shift |
| ENST00000378308 | 41031090 | 41031211 | Frame-shift |
| ENST00000378308 | 41055503 | 41055612 | Frame-shift |
| ENST00000378308 | 41060312 | 41060533 | Frame-shift |
| ENST00000378308 | 41064555 | 41064746 | Frame-shift |
| ENST00000378308 | 41073820 | 41073962 | Frame-shift |
| ENST00000378308 | 41078354 | 41078484 | Frame-shift |
| ENST00000378308 | 41088505 | 41088662 | Frame-shift |
| ENST00000378308 | 40996056 | 40996275 | In-frame |
| ENST00000378308 | 41002543 | 41002696 | In-frame |
| ENST00000378308 | 41045769 | 41045895 | In-frame |
| ENST00000378308 | 41055844 | 41055991 | In-frame |
| ENST00000378308 | 41069761 | 41069935 | In-frame |
| ENST00000378308 | 41082469 | 41082655 | In-frame |
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Infer the effects of exon skipping event on protein functional features for USP9X |
| 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 |
| ENST00000378308 | 8388 | 2570 | 40996056 | 40996275 | 1069 | 1287 | 145 | 218 |
| ENST00000378308 | 8388 | 2570 | 41002543 | 41002696 | 1795 | 1947 | 387 | 438 |
| ENST00000378308 | 8388 | 2570 | 41045769 | 41045895 | 4192 | 4317 | 1186 | 1228 |
| ENST00000378308 | 8388 | 2570 | 41055844 | 41055991 | 4720 | 4866 | 1362 | 1411 |
| ENST00000378308 | 8388 | 2570 | 41069761 | 41069935 | 5649 | 5822 | 1672 | 1729 |
| ENST00000378308 | 8388 | 2570 | 41082469 | 41082655 | 7199 | 7384 | 2188 | 2250 |
| 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 |
| ENST00000378308 | 8388 | 2570 | 40996056 | 40996275 | 1069 | 1287 | 145 | 218 |
| ENST00000378308 | 8388 | 2570 | 41002543 | 41002696 | 1795 | 1947 | 387 | 438 |
| ENST00000378308 | 8388 | 2570 | 41045769 | 41045895 | 4192 | 4317 | 1186 | 1228 |
| ENST00000378308 | 8388 | 2570 | 41055844 | 41055991 | 4720 | 4866 | 1362 | 1411 |
| ENST00000378308 | 8388 | 2570 | 41069761 | 41069935 | 5649 | 5822 | 1672 | 1729 |
| ENST00000378308 | 8388 | 2570 | 41082469 | 41082655 | 7199 | 7384 | 2188 | 2250 |
| 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 |
| Q93008 | 145 | 218 | 1 | 2570 | Chain | ID=PRO_0000080689;Note=Probable ubiquitin carboxyl-terminal hydrolase FAF-X |
| Q93008 | 145 | 218 | 148 | 154 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q93008 | 387 | 438 | 1 | 2570 | Chain | ID=PRO_0000080689;Note=Probable ubiquitin carboxyl-terminal hydrolase FAF-X |
| Q93008 | 1186 | 1228 | 1 | 2570 | Chain | ID=PRO_0000080689;Note=Probable ubiquitin carboxyl-terminal hydrolase FAF-X |
| Q93008 | 1362 | 1411 | 1 | 2570 | Chain | ID=PRO_0000080689;Note=Probable ubiquitin carboxyl-terminal hydrolase FAF-X |
| Q93008 | 1362 | 1411 | 1400 | 1400 | Sequence conflict | Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q93008 | 1672 | 1729 | 1 | 2570 | Chain | ID=PRO_0000080689;Note=Probable ubiquitin carboxyl-terminal hydrolase FAF-X |
| Q93008 | 1672 | 1729 | 1557 | 1956 | Domain | Note=USP |
| Q93008 | 2188 | 2250 | 1 | 2570 | Chain | ID=PRO_0000080689;Note=Probable ubiquitin carboxyl-terminal hydrolase FAF-X |
| 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 |
| Q93008 | 145 | 218 | 1 | 2570 | Chain | ID=PRO_0000080689;Note=Probable ubiquitin carboxyl-terminal hydrolase FAF-X |
| Q93008 | 145 | 218 | 148 | 154 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q93008 | 387 | 438 | 1 | 2570 | Chain | ID=PRO_0000080689;Note=Probable ubiquitin carboxyl-terminal hydrolase FAF-X |
| Q93008 | 1186 | 1228 | 1 | 2570 | Chain | ID=PRO_0000080689;Note=Probable ubiquitin carboxyl-terminal hydrolase FAF-X |
| Q93008 | 1362 | 1411 | 1 | 2570 | Chain | ID=PRO_0000080689;Note=Probable ubiquitin carboxyl-terminal hydrolase FAF-X |
| Q93008 | 1362 | 1411 | 1400 | 1400 | Sequence conflict | Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q93008 | 1672 | 1729 | 1 | 2570 | Chain | ID=PRO_0000080689;Note=Probable ubiquitin carboxyl-terminal hydrolase FAF-X |
| Q93008 | 1672 | 1729 | 1557 | 1956 | Domain | Note=USP |
| Q93008 | 2188 | 2250 | 1 | 2570 | Chain | ID=PRO_0000080689;Note=Probable ubiquitin carboxyl-terminal hydrolase FAF-X |
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SNVs in the skipped exons for USP9X |
| - 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. |
USP9X_COAD_exon_skip_509803_psi_boxplot.png |
USP9X_LIHC_exon_skip_509803_psi_boxplot.png |
| - 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 |
| ACC | TCGA-OR-A5J5-01 | exon_skip_509782 | 40982724 | 40982977 | 40982957 | 40982957 | Frame_Shift_Del | C | - | p.P27fs |
| ACC | TCGA-OR-A5J5-01 | exon_skip_509782 | 40982724 | 40982977 | 40982957 | 40982957 | Frame_Shift_Del | C | - | p.Q25fs |
| STAD | TCGA-HU-A4GU-01 | exon_skip_509782 | 40982724 | 40982977 | 40982957 | 40982957 | Frame_Shift_Del | C | - | p.P26fs |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_509782 | 40982724 | 40982977 | 40982957 | 40982957 | Frame_Shift_Del | C | - | p.P26fs |
| THYM | TCGA-ZB-A96E-01 | exon_skip_509783 | 40996057 | 40996275 | 40996178 | 40996178 | Frame_Shift_Del | T | - | p.I186fs |
| SKCM | TCGA-ER-A2NH-06 | exon_skip_509786 | 41010174 | 41010310 | 41010280 | 41010283 | Frame_Shift_Del | GTTT | - | p.SL578fs |
| MESO | TCGA-ZN-A9VS-01 | exon_skip_509787 | 41022043 | 41022130 | 41022080 | 41022080 | Frame_Shift_Del | A | - | p.G645fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_509791 | 41055504 | 41055612 | 41055535 | 41055535 | Frame_Shift_Del | T | - | p.F1337fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_509791 | 41055504 | 41055612 | 41055561 | 41055561 | Frame_Shift_Del | G | - | p.M1345fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_509791 | 41055504 | 41055612 | 41055609 | 41055609 | Frame_Shift_Del | G | - | p.L1361fs |
| STAD | TCGA-BR-4370-01 | exon_skip_509792 | 41055845 | 41055991 | 41055854 | 41055855 | Frame_Shift_Del | AG | - | p.1365_1366del |
| STAD | TCGA-BR-4370-01 | exon_skip_509792 | 41055845 | 41055991 | 41055854 | 41055855 | Frame_Shift_Del | AG | - | p.A1365fs |
| UCEC | TCGA-AX-A060-01 | exon_skip_509792 | 41055845 | 41055991 | 41055854 | 41055855 | Frame_Shift_Del | AG | - | p.R1366fs |
| UCEC | TCGA-AX-A060-01 | exon_skip_509792 | 41055845 | 41055991 | 41055854 | 41055855 | Frame_Shift_Del | AG | - | p.R1368fs |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_509792 | 41055845 | 41055991 | 41055854 | 41055855 | Frame_Shift_Del | AG | - | p.R1366fs |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_509792 | 41055845 | 41055991 | 41055854 | 41055855 | Frame_Shift_Del | AG | - | p.R1368fs |
| HNSC | TCGA-HD-A634-01 | exon_skip_509794 | 41060313 | 41060533 | 41060380 | 41060380 | Frame_Shift_Del | G | - | p.V1557fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_509794 | 41060313 | 41060533 | 41060510 | 41060510 | Frame_Shift_Del | G | - | p.G1601fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_509796 | 41069762 | 41069935 | 41069767 | 41069767 | Frame_Shift_Del | G | - | p.W1674fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_509796 | 41069762 | 41069935 | 41069804 | 41069804 | Frame_Shift_Del | T | - | p.A1686fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_509796 | 41069762 | 41069935 | 41069811 | 41069811 | Frame_Shift_Del | T | - | p.E1688fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_509796 | 41069762 | 41069935 | 41069811 | 41069811 | Frame_Shift_Del | T | - | p.F1690fs |
| HNSC | TCGA-D6-A6EK-01 | exon_skip_509797 | 41073821 | 41073962 | 41073879 | 41073879 | Frame_Shift_Del | C | - | p.L1751fs |
| UCEC | TCGA-BS-A0UM-01 | exon_skip_509797 | 41073821 | 41073962 | 41073946 | 41073946 | Frame_Shift_Del | A | - | p.E1772fs |
| HNSC | TCGA-D6-6517-01 | exon_skip_509803 | 41088506 | 41088662 | 41088557 | 41088563 | Frame_Shift_Del | CACAATC | - | p.D2371fs |
| HNSC | TCGA-D6-6517-01 | exon_skip_509803 | 41088506 | 41088662 | 41088557 | 41088563 | Frame_Shift_Del | CACAATC | - | p.DTI2371fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_509803 | 41088506 | 41088662 | 41088586 | 41088586 | Frame_Shift_Del | A | - | p.Q2381fs |
| KIRC | TCGA-A3-3319-01 | exon_skip_509782 | 40982724 | 40982977 | 40982956 | 40982957 | Frame_Shift_Ins | - | C | p.HP25fs |
| KIRC | TCGA-A3-3363-01 | exon_skip_509782 | 40982724 | 40982977 | 40982956 | 40982957 | Frame_Shift_Ins | - | C | p.HP25fs |
| KIRC | TCGA-A3-3378-01 | exon_skip_509782 | 40982724 | 40982977 | 40982956 | 40982957 | Frame_Shift_Ins | - | C | p.HP25fs |
| LUAD | TCGA-44-2656-01 | exon_skip_509782 | 40982724 | 40982977 | 40982956 | 40982957 | Frame_Shift_Ins | - | C | p.HP25fs |
| LUAD | TCGA-44-2656-01 | exon_skip_509782 | 40982724 | 40982977 | 40982956 | 40982957 | Frame_Shift_Ins | - | C | p.Q25fs |
| LUAD | TCGA-55-1592-01 | exon_skip_509782 | 40982724 | 40982977 | 40982956 | 40982957 | Frame_Shift_Ins | - | C | p.HP25fs |
| LUAD | TCGA-55-1594-01 | exon_skip_509782 | 40982724 | 40982977 | 40982956 | 40982957 | Frame_Shift_Ins | - | C | p.HP25fs |
| LUAD | TCGA-55-1596-01 | exon_skip_509782 | 40982724 | 40982977 | 40982956 | 40982957 | Frame_Shift_Ins | - | C | p.HP25fs |
| LUAD | TCGA-64-1678-01 | exon_skip_509782 | 40982724 | 40982977 | 40982956 | 40982957 | Frame_Shift_Ins | - | C | p.HP25fs |
| LUAD | TCGA-64-1678-01 | exon_skip_509782 | 40982724 | 40982977 | 40982956 | 40982957 | Frame_Shift_Ins | - | C | p.Q25fs |
| UCEC | TCGA-BG-A0M0-01 | exon_skip_509782 | 40982724 | 40982977 | 40982956 | 40982957 | Frame_Shift_Ins | - | C | p.Q25fs |
| UCS | TCGA-N9-A4Q3-01 | exon_skip_509792 | 41055845 | 41055991 | 41055894 | 41055895 | Frame_Shift_Ins | - | A | p.*1379fs |
| UCS | TCGA-N9-A4Q3-01 | exon_skip_509792 | 41055845 | 41055991 | 41055894 | 41055895 | Frame_Shift_Ins | - | A | p.L1379fs |
| COAD | TCGA-CK-5912-01 | exon_skip_509803 | 41088506 | 41088662 | 41088571 | 41088572 | Frame_Shift_Ins | - | T | p.S2376fs |
| SKCM | TCGA-EE-A3J7-06 | exon_skip_509782 | 40982724 | 40982977 | 40982966 | 40982966 | Nonsense_Mutation | C | T | p.Q29* |
| SKCM | TCGA-ER-A198-06 | exon_skip_509782 | 40982724 | 40982977 | 40982969 | 40982969 | Nonsense_Mutation | C | T | p.Q30* |
| HNSC | TCGA-CV-A463-01 | exon_skip_509784 | 41002544 | 41002696 | 41002598 | 41002598 | Nonsense_Mutation | C | T | p.Q406* |
| LIHC | TCGA-ZS-A9CE-01 | exon_skip_509787 | 41022043 | 41022130 | 41022048 | 41022048 | Nonsense_Mutation | G | T | p.E635X |
| PCPG | TCGA-QR-A70U-01 | exon_skip_509790 | 41045770 | 41045895 | 41045776 | 41045776 | Nonsense_Mutation | C | T | p.Q1189* |
| CHOL | TCGA-ZU-A8S4-01 | exon_skip_509803 | 41088506 | 41088662 | 41088540 | 41088540 | Nonsense_Mutation | C | T | p.R2366* |
| CHOL | TCGA-ZU-A8S4-01 | exon_skip_509803 | 41088506 | 41088662 | 41088540 | 41088540 | Nonsense_Mutation | C | T | p.R2366X |
| COAD | TCGA-CM-6165-01 | exon_skip_509787 | 41022043 | 41022130 | 41022042 | 41022042 | Splice_Site | G | A | . |
| SKCM | TCGA-FS-A1Z0-06 | exon_skip_509791 | 41055504 | 41055612 | 41055614 | 41055614 | Splice_Site | T | G | . |
| UCEC | TCGA-B5-A11E-01 | exon_skip_509797 | 41073821 | 41073962 | 41073963 | 41073963 | Splice_Site | G | A | e33+1 |
| LUSC | TCGA-39-5024-01 | exon_skip_509799 | 41078355 | 41078484 | 41078486 | 41078486 | Splice_Site | T | A | p.G2189_splice |
| COAD | TCGA-CM-5862-01 | exon_skip_509803 | 41088506 | 41088662 | 41088663 | 41088663 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CM-5862-01 |
| Cancer type: COAD | |
| ESID: exon_skip_509803 | |
| Skipped exon start: 41088506 | |
| Skipped exon end: 41088662 | |
| Mutation start: 41088663 | |
| Mutation end: 41088663 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_509803_COAD_TCGA-CM-5862-01.png | |
| - 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 |
| TOV21G_OVARY | 40982724 | 40982977 | 40982957 | 40982957 | Frame_Shift_Del | C | - | p.P27fs |
| MZ7MEL_SKIN | 41045770 | 41045895 | 41045889 | 41045889 | Frame_Shift_Del | T | - | p.S1226fs |
| SNUC4_LARGE_INTESTINE | 41055845 | 41055991 | 41055854 | 41055855 | Frame_Shift_Del | AG | - | p.R1366fs |
| CL34_LARGE_INTESTINE | 41055845 | 41055991 | 41055854 | 41055855 | Frame_Shift_Del | AG | - | p.R1366fs |
| RERFLCAD2_LUNG | 41073821 | 41073962 | 41073893 | 41073893 | Frame_Shift_Del | G | - | p.L1754fs |
| CW2_LARGE_INTESTINE | 40996057 | 40996275 | 40996247 | 40996247 | Missense_Mutation | C | A | p.A209D |
| SISO_CERVIX | 40996057 | 40996275 | 40996250 | 40996250 | Missense_Mutation | G | A | p.R210H |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40996057 | 40996275 | 40996250 | 40996250 | Missense_Mutation | G | A | p.R210H |
| HCC1569_BREAST | 41002544 | 41002696 | 41002547 | 41002547 | Missense_Mutation | T | C | p.W389R |
| EN_ENDOMETRIUM | 41002544 | 41002696 | 41002632 | 41002632 | Missense_Mutation | T | C | p.L417P |
| NCIH1573_LUNG | 41010174 | 41010310 | 41010180 | 41010180 | Missense_Mutation | G | C | p.D545H |
| JHUEM7_ENDOMETRIUM | 41010174 | 41010310 | 41010225 | 41010225 | Missense_Mutation | C | T | p.R560C |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41022043 | 41022130 | 41022087 | 41022087 | Missense_Mutation | T | C | p.Y648H |
| HEC59_ENDOMETRIUM | 41031091 | 41031211 | 41031162 | 41031162 | Missense_Mutation | G | A | p.M1033I |
| MCC13_SKIN | 41031091 | 41031211 | 41031195 | 41031195 | Missense_Mutation | G | A | p.M1044I |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41055845 | 41055991 | 41055922 | 41055922 | Missense_Mutation | T | A | p.N1388K |
| SNUC2A_LARGE_INTESTINE | 41060313 | 41060533 | 41060418 | 41060418 | Missense_Mutation | C | A | p.S1570Y |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41064556 | 41064746 | 41064623 | 41064623 | Missense_Mutation | G | A | p.S1631N |
| CW2_LARGE_INTESTINE | 41064556 | 41064746 | 41064676 | 41064676 | Missense_Mutation | G | A | p.V1649I |
| JHUEM7_ENDOMETRIUM | 41069762 | 41069935 | 41069812 | 41069812 | Missense_Mutation | T | G | p.F1689C |
| HCC2998_LARGE_INTESTINE | 41069762 | 41069935 | 41069896 | 41069896 | Missense_Mutation | C | T | p.S1717F |
| AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41073821 | 41073962 | 41073858 | 41073858 | Missense_Mutation | G | C | p.D1743H |
| INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41082470 | 41082655 | 41082491 | 41082491 | Missense_Mutation | T | A | p.L2196H |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41082470 | 41082655 | 41082614 | 41082614 | Missense_Mutation | G | A | p.R2237H |
| MFE319_ENDOMETRIUM | 41088506 | 41088662 | 41088609 | 41088609 | Missense_Mutation | A | G | p.K2389E |
| MCAS_OVARY | 41088506 | 41088662 | 41088654 | 41088654 | Missense_Mutation | A | G | p.I2404V |
| PK45H_PANCREAS | 41045770 | 41045895 | 41045776 | 41045776 | Nonsense_Mutation | C | T | p.Q1189* |
| CCLFPEDS0008T_SOFT_TISSUE | 41010174 | 41010310 | 41010301 | 41010312 | Splice_Site | AAAATTTGAGGT | - | p.QNLR585del |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for USP9X |
| 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 USP9X |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP9X |
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RelatedDrugs for USP9X |
| 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 USP9X |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| USP9X | C3806746 | MENTAL RETARDATION, X-LINKED 99 | 1 | UNIPROT |
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