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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 SEPT9 |
 Gene summary |
| Gene information | Gene symbol | SEPT9 | Gene ID | 10801 |
| Gene name | septin 9 | |
| Synonyms | AF17q25|MSF|MSF1|NAPB|PNUTL4|SINT1|SeptD1 | |
| Cytomap | 17q25.3 | |
| Type of gene | protein-coding | |
| Description | septin-9MLL septin-like fusion protein MSF-AOv/Br septinovarian/breast septinseptin D1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UHD8 | |
| Context | PubMed: SEPT9 [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 |
| SEPT9 | GO:0051291 | protein heterooligomerization | 15485874 |
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Exon skipping events across known transcript of Ensembl for SEPT9 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 SEPT9 |
| 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 SEPT9 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_283641 | 17 | 75277532:75277636:75290855:75290985:75303222:75303279 | 75290855:75290985 | ENSG00000184640.13 | ENST00000591833.1 |
| exon_skip_283644 | 17 | 75277532:75277636:75303222:75303279:75398140:75398160 | 75303222:75303279 | ENSG00000184640.13 | ENST00000427177.1 |
| exon_skip_283646 | 17 | 75277532:75277636:75398140:75398785:75478225:75478417 | 75398140:75398785 | ENSG00000184640.13 | ENST00000591198.1 |
| exon_skip_283657 | 17 | 75283972:75284292:75303222:75303279:75398140:75398171 | 75303222:75303279 | ENSG00000184640.13 | ENST00000449803.2 |
| exon_skip_283670 | 17 | 75290570:75290653:75303222:75303279:75398140:75398171 | 75303222:75303279 | ENSG00000184640.13 | ENST00000587237.1 |
| exon_skip_283672 | 17 | 75290855:75290985:75303222:75303279:75398140:75398171 | 75303222:75303279 | ENSG00000184640.13 | ENST00000591833.1 |
| exon_skip_283676 | 17 | 75303222:75303279:75398140:75398785:75478225:75478417 | 75398140:75398785 | ENSG00000184640.13 | ENST00000431235.2,ENST00000427177.1,ENST00000449803.2 |
| exon_skip_283678 | 17 | 75315683:75315885:75398418:75398577:75483563:75483634 | 75398418:75398577 | ENSG00000184640.13 | ENST00000588575.1 |
| exon_skip_283680 | 17 | 75316394:75316430:75318870:75319030:75398140:75398171 | 75318870:75319030 | ENSG00000184640.13 | ENST00000591934.1 |
| exon_skip_283681 | 17 | 75316394:75316430:75398140:75398785:75478225:75478417 | 75398140:75398785 | ENSG00000184640.13 | ENST00000329047.8,ENST00000590294.1 |
| exon_skip_283682 | 17 | 75369418:75369634:75398140:75398785:75478225:75478417 | 75398140:75398785 | ENSG00000184640.13 | ENST00000423034.2 |
| exon_skip_283683 | 17 | 75369418:75369634:75398637:75398785:75478225:75478417 | 75398637:75398785 | ENSG00000184640.13 | ENST00000590059.1 |
| exon_skip_283684 | 17 | 75446818:75446868:75447448:75447610:75478225:75478417 | 75447448:75447610 | ENSG00000184640.13 | ENST00000586128.1 |
| exon_skip_283690 | 17 | 75489061:75489158:75493396:75493448:75494604:75494847 | 75493396:75493448 | ENSG00000184640.13 | ENST00000431235.2,ENST00000585930.1,ENST00000592951.1,ENST00000427177.1,ENST00000329047.8,ENST00000590294.1,ENST00000591088.1,ENST00000541152.2,ENST00000427674.2,ENST00000423034.2,ENST00000427180.1,ENST00000591198.1,ENST00000588690.1,ENST00000449803.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SEPT9 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_283641 | 17 | 75277532:75277636:75290855:75290985:75303222:75303279 | 75290855:75290985 | ENSG00000184640.13 | ENST00000591833.1 |
| exon_skip_283644 | 17 | 75277532:75277636:75303222:75303279:75398140:75398160 | 75303222:75303279 | ENSG00000184640.13 | ENST00000427177.1 |
| exon_skip_283657 | 17 | 75283972:75284292:75303222:75303279:75398140:75398171 | 75303222:75303279 | ENSG00000184640.13 | ENST00000449803.2 |
| exon_skip_283670 | 17 | 75290570:75290653:75303222:75303279:75398140:75398171 | 75303222:75303279 | ENSG00000184640.13 | ENST00000587237.1 |
| exon_skip_283676 | 17 | 75303222:75303279:75398140:75398785:75478225:75478417 | 75398140:75398785 | ENSG00000184640.13 | ENST00000427177.1,ENST00000431235.2,ENST00000449803.2 |
| exon_skip_283678 | 17 | 75315683:75315885:75398418:75398577:75483563:75483634 | 75398418:75398577 | ENSG00000184640.13 | ENST00000588575.1 |
| exon_skip_283680 | 17 | 75316394:75316430:75318870:75319030:75398140:75398171 | 75318870:75319030 | ENSG00000184640.13 | ENST00000591934.1 |
| exon_skip_283681 | 17 | 75316394:75316430:75398140:75398785:75478225:75478417 | 75398140:75398785 | ENSG00000184640.13 | ENST00000590294.1,ENST00000329047.8 |
| exon_skip_283682 | 17 | 75369418:75369634:75398140:75398785:75478225:75478417 | 75398140:75398785 | ENSG00000184640.13 | ENST00000423034.2 |
| exon_skip_283683 | 17 | 75369418:75369634:75398637:75398785:75478225:75478417 | 75398637:75398785 | ENSG00000184640.13 | ENST00000590059.1 |
| exon_skip_283684 | 17 | 75446818:75446868:75447448:75447610:75478225:75478417 | 75447448:75447610 | ENSG00000184640.13 | ENST00000586128.1 |
| exon_skip_283690 | 17 | 75489061:75489158:75493396:75493448:75494604:75494847 | 75493396:75493448 | ENSG00000184640.13 | ENST00000427177.1,ENST00000591198.1,ENST00000431235.2,ENST00000449803.2,ENST00000590294.1,ENST00000329047.8,ENST00000588690.1,ENST00000423034.2,ENST00000427674.2,ENST00000585930.1,ENST00000541152.2,ENST00000591088.1,ENST00000592951.1,ENST00000427180.1 |
| 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 SEPT9 |
| 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 |
| ENST00000427177 | 75493396 | 75493448 | Frame-shift |
| ENST00000427177 | 75303222 | 75303279 | In-frame |
| ENST00000427177 | 75398140 | 75398785 | 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 |
| ENST00000427177 | 75493396 | 75493448 | Frame-shift |
| ENST00000427177 | 75303222 | 75303279 | In-frame |
| ENST00000427177 | 75398140 | 75398785 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SEPT9 |
| 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 |
| ENST00000427177 | 3838 | 586 | 75303222 | 75303279 | 146 | 202 | 6 | 25 |
| ENST00000427177 | 3838 | 586 | 75398140 | 75398785 | 203 | 847 | 25 | 240 |
| 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 |
| ENST00000427177 | 3838 | 586 | 75303222 | 75303279 | 146 | 202 | 6 | 25 |
| ENST00000427177 | 3838 | 586 | 75398140 | 75398785 | 203 | 847 | 25 | 240 |
| 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 SEPT9 |
| - 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-G3-A3CJ-01 | exon_skip_283676 exon_skip_283682 exon_skip_283646 exon_skip_283681 | 75398141 | 75398785 | 75398212 | 75398212 | Frame_Shift_Del | C | - | p.P32fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_283676 exon_skip_283682 exon_skip_283646 exon_skip_283681 | 75398141 | 75398785 | 75398355 | 75398355 | Frame_Shift_Del | C | - | p.G79fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_283676 exon_skip_283682 exon_skip_283646 exon_skip_283681 | 75398141 | 75398785 | 75398666 | 75398666 | Frame_Shift_Del | C | - | p.A183fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_283683 | 75398638 | 75398785 | 75398666 | 75398666 | Frame_Shift_Del | C | - | p.A183fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_283676 exon_skip_283682 exon_skip_283646 exon_skip_283681 | 75398141 | 75398785 | 75398678 | 75398678 | Frame_Shift_Del | C | - | p.A187fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_283683 | 75398638 | 75398785 | 75398678 | 75398678 | Frame_Shift_Del | C | - | p.A187fs |
| KICH | TCGA-KO-8407-01 | exon_skip_283676 exon_skip_283682 exon_skip_283646 exon_skip_283681 | 75398141 | 75398785 | 75398360 | 75398361 | Frame_Shift_Ins | - | G | p.K99fs |
| PAAD | TCGA-FB-A4P5-01 | exon_skip_283676 exon_skip_283682 exon_skip_283646 exon_skip_283681 | 75398141 | 75398785 | 75398245 | 75398245 | Nonsense_Mutation | C | T | p.Q43* |
| PAAD | TCGA-FB-A4P5-01 | exon_skip_283676 exon_skip_283682 exon_skip_283646 exon_skip_283681 | 75398141 | 75398785 | 75398245 | 75398245 | Nonsense_Mutation | C | T | p.Q61* |
| PAAD | TCGA-FB-A4P5-01 | exon_skip_283676 exon_skip_283682 exon_skip_283646 exon_skip_283681 | 75398141 | 75398785 | 75398245 | 75398245 | Nonsense_Mutation | C | T | p.Q61X |
| - 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 |
| LNCAPCLONEFGC_PROSTATE | 75398141 | 75398785 | 75398145 | 75398145 | Missense_Mutation | G | T | p.L27F |
| NCIH446_LUNG | 75398141 | 75398785 | 75398183 | 75398183 | Missense_Mutation | A | C | p.N40T |
| Y79_AUTONOMIC_GANGLIA | 75398141 | 75398785 | 75398266 | 75398266 | Missense_Mutation | G | A | p.V68M |
| GB1_CENTRAL_NERVOUS_SYSTEM | 75398141 | 75398785 | 75398273 | 75398273 | Missense_Mutation | A | C | p.N70T |
| HCT15_LARGE_INTESTINE | 75398141 | 75398785 | 75398384 | 75398384 | Missense_Mutation | G | A | p.R107H |
| LS411N_LARGE_INTESTINE | 75398141 | 75398785 | 75398384 | 75398384 | Missense_Mutation | G | A | p.R107H |
| HRT18_LARGE_INTESTINE | 75398141 | 75398785 | 75398384 | 75398384 | Missense_Mutation | G | A | p.R107H |
| KYSE140_OESOPHAGUS | 75398141 | 75398785 | 75398387 | 75398387 | Missense_Mutation | C | G | p.T108S |
| PANC1_PANCREAS | 75398141 | 75398785 | 75398398 | 75398398 | Missense_Mutation | A | G | p.I112V |
| KP1N_PANCREAS | 75398141 | 75398785 | 75398398 | 75398398 | Missense_Mutation | A | G | p.I112V |
| KP1NL_PANCREAS | 75398141 | 75398785 | 75398398 | 75398398 | Missense_Mutation | A | G | p.I112V |
| NB17_AUTONOMIC_GANGLIA | 75398141 | 75398785 | 75398411 | 75398411 | Missense_Mutation | C | A | p.S116Y |
| MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75398419 | 75398577 | 75398417 | 75398418 | Missense_Mutation | AG | CC | p.Q118P |
| MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75398141 | 75398785 | 75398417 | 75398418 | Missense_Mutation | AG | CC | p.Q118P |
| MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75398419 | 75398577 | 75398417 | 75398418 | Missense_Mutation | AG | CC | p.Q118P |
| MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75398141 | 75398785 | 75398417 | 75398418 | Missense_Mutation | AG | CC | p.Q118P |
| IGROV1_OVARY | 75398419 | 75398577 | 75398441 | 75398441 | Missense_Mutation | G | A | p.G126D |
| IGROV1_OVARY | 75398141 | 75398785 | 75398441 | 75398441 | Missense_Mutation | G | A | p.G126D |
| DJM1_SKIN | 75398419 | 75398577 | 75398449 | 75398449 | Missense_Mutation | C | T | p.R129W |
| DJM1_SKIN | 75398141 | 75398785 | 75398449 | 75398449 | Missense_Mutation | C | T | p.R129W |
| HEC1_ENDOMETRIUM | 75398419 | 75398577 | 75398534 | 75398534 | Missense_Mutation | C | A | p.P157H |
| HEC1_ENDOMETRIUM | 75398141 | 75398785 | 75398534 | 75398534 | Missense_Mutation | C | A | p.P157H |
| LS411N_LARGE_INTESTINE | 75398419 | 75398577 | 75398545 | 75398545 | Missense_Mutation | G | A | p.A161T |
| LS411N_LARGE_INTESTINE | 75398141 | 75398785 | 75398545 | 75398545 | Missense_Mutation | G | A | p.A161T |
| SNU1040_LARGE_INTESTINE | 75398419 | 75398577 | 75398555 | 75398555 | Missense_Mutation | G | A | p.R164K |
| SNU1040_LARGE_INTESTINE | 75398141 | 75398785 | 75398555 | 75398555 | Missense_Mutation | G | A | p.R164K |
| KYSE140_OESOPHAGUS | 75398419 | 75398577 | 75398579 | 75398579 | Missense_Mutation | T | G | p.V172G |
| KYSE140_OESOPHAGUS | 75398141 | 75398785 | 75398579 | 75398579 | Missense_Mutation | T | G | p.V172G |
| KPNSI9S_AUTONOMIC_GANGLIA | 75398141 | 75398785 | 75398584 | 75398584 | Missense_Mutation | G | A | p.E174K |
| MM386_SKIN | 75398141 | 75398785 | 75398599 | 75398599 | Missense_Mutation | C | T | p.P179S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SEPT9 |
| 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 SEPT9 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SEPT9 |
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RelatedDrugs for SEPT9 |
| 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 SEPT9 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SEPT9 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| SEPT9 | C0221759 | Brachial Plexus Neuritis | 1 | CTD_human;ORPHANET |
| SEPT9 | C1834304 | AMYOTROPHY, HEREDITARY NEURALGIC | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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