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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 ASB9 |
Gene summary |
| Gene information | Gene symbol | ASB9 | Gene ID | 140462 |
| Gene name | ankyrin repeat and SOCS box containing 9 | |
| Synonyms | - | |
| Cytomap | Xp22.2 | |
| Type of gene | protein-coding | |
| Description | ankyrin repeat and SOCS box protein 9ASB-9ankyrin repeat and suppressor of cytokine signaling box protein 9testis tissue sperm-binding protein Li 57p | |
| Modification date | 20180523 | |
| UniProtAcc | Q96DX5 | |
| Context | PubMed: ASB9 [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 |
| ASB9 | GO:0016567 | protein ubiquitination | 17148442 |
| ASB9 | GO:0045732 | positive regulation of protein catabolic process | 17148442 |
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Exon skipping events across known transcript of Ensembl for ASB9 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 ASB9 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ASB9 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513980 | X | 15262411:15262752:15266804:15267057:15268551:15268656 | 15266804:15267057 | ENSG00000102048.11 | ENST00000546332.1,ENST00000380485.3,ENST00000380483.3 |
| exon_skip_513981 | X | 15262411:15262752:15266865:15267057:15268551:15268656 | 15266865:15267057 | ENSG00000102048.11 | ENST00000473862.1,ENST00000380488.4 |
| exon_skip_513982 | X | 15266865:15267057:15268551:15268656:15270375:15270439 | 15268551:15268656 | ENSG00000102048.11 | ENST00000380483.3 |
| exon_skip_513983 | X | 15266865:15267057:15268551:15268686:15270375:15270439 | 15268551:15268686 | ENSG00000102048.11 | ENST00000473862.1,ENST00000380488.4,ENST00000477346.2,ENST00000546332.1,ENST00000380485.3 |
| exon_skip_513986 | X | 15276987:15277067:15287902:15288131:15288240:15288281 | 15287902:15288131 | ENSG00000102048.11 | ENST00000470015.1,ENST00000546332.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ASB9 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513980 | X | 15262411:15262752:15266804:15267057:15268551:15268656 | 15266804:15267057 | ENSG00000102048.11 | ENST00000380483.3,ENST00000380485.3,ENST00000546332.1 |
| exon_skip_513981 | X | 15262411:15262752:15266865:15267057:15268551:15268656 | 15266865:15267057 | ENSG00000102048.11 | ENST00000380488.4,ENST00000473862.1 |
| exon_skip_513986 | X | 15276987:15277067:15287902:15288131:15288240:15288281 | 15287902:15288131 | ENSG00000102048.11 | ENST00000546332.1,ENST00000470015.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ASB9 |
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 |
| ENST00000380488 | 15266865 | 15267057 | In-frame |
| ENST00000380488 | 15268551 | 15268686 | 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 |
| ENST00000380488 | 15266865 | 15267057 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ASB9 |
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 |
| ENST00000380488 | 1695 | 294 | 15268551 | 15268686 | 708 | 842 | 144 | 189 |
| ENST00000380488 | 1695 | 294 | 15266865 | 15267057 | 843 | 1034 | 189 | 253 |
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 |
| ENST00000380488 | 1695 | 294 | 15266865 | 15267057 | 843 | 1034 | 189 | 253 |
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 |
| Q96DX5 | 144 | 189 | 145 | 154 | Alternative sequence | ID=VSP_043158;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96DX5 | 144 | 189 | 1 | 294 | Chain | ID=PRO_0000066940;Note=Ankyrin repeat and SOCS box protein 9 |
| Q96DX5 | 144 | 189 | 137 | 144 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 144 | 189 | 147 | 155 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 144 | 189 | 170 | 176 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 144 | 189 | 180 | 188 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 144 | 189 | 133 | 162 | Repeat | Note=ANK 4 |
| Q96DX5 | 144 | 189 | 166 | 195 | Repeat | Note=ANK 5 |
| Q96DX5 | 144 | 189 | 165 | 167 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 189 | 253 | 1 | 294 | Chain | ID=PRO_0000066940;Note=Ankyrin repeat and SOCS box protein 9 |
| Q96DX5 | 189 | 253 | 240 | 294 | Domain | Note=SOCS box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00194 |
| Q96DX5 | 189 | 253 | 202 | 208 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 189 | 253 | 212 | 220 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 189 | 253 | 235 | 238 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 189 | 253 | 244 | 252 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 189 | 253 | 166 | 195 | Repeat | Note=ANK 5 |
| Q96DX5 | 189 | 253 | 198 | 227 | Repeat | Note=ANK 6 |
| Q96DX5 | 189 | 253 | 192 | 192 | Sequence conflict | Note=D->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96DX5 | 189 | 253 | 237 | 237 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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 |
| Q96DX5 | 189 | 253 | 1 | 294 | Chain | ID=PRO_0000066940;Note=Ankyrin repeat and SOCS box protein 9 |
| Q96DX5 | 189 | 253 | 240 | 294 | Domain | Note=SOCS box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00194 |
| Q96DX5 | 189 | 253 | 202 | 208 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 189 | 253 | 212 | 220 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 189 | 253 | 235 | 238 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 189 | 253 | 244 | 252 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D9H |
| Q96DX5 | 189 | 253 | 166 | 195 | Repeat | Note=ANK 5 |
| Q96DX5 | 189 | 253 | 198 | 227 | Repeat | Note=ANK 6 |
| Q96DX5 | 189 | 253 | 192 | 192 | Sequence conflict | Note=D->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96DX5 | 189 | 253 | 237 | 237 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for ASB9 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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_513982 | 15268552 | 15268656 | 15268577 | 15268577 | Frame_Shift_Del | G | - | p.A181fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_513983 | 15268552 | 15268686 | 15268577 | 15268577 | Frame_Shift_Del | G | - | p.A181fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_513982 | 15268552 | 15268656 | 15268590 | 15268590 | Frame_Shift_Del | T | - | p.N177fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_513983 | 15268552 | 15268686 | 15268590 | 15268590 | Frame_Shift_Del | T | - | p.N177fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_513982 | 15268552 | 15268656 | 15268647 | 15268647 | Frame_Shift_Del | C | - | p.G158fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_513983 | 15268552 | 15268686 | 15268647 | 15268647 | Frame_Shift_Del | C | - | p.G158fs |
| GBM | TCGA-76-4931-01 | exon_skip_513981 exon_skip_513980 | 15266805 | 15267057 | 15266989 | 15266989 | Nonsense_Mutation | C | A | p.E213* |
| GBM | TCGA-76-4931-01 | exon_skip_513981 exon_skip_513980 | 15266866 | 15267057 | 15266989 | 15266989 | Nonsense_Mutation | C | A | p.E213* |
| HNSC | TCGA-BA-5149-01 | exon_skip_513982 | 15268552 | 15268656 | 15268558 | 15268558 | Nonsense_Mutation | C | A | p.E188* |
| HNSC | TCGA-BA-5149-01 | exon_skip_513983 | 15268552 | 15268686 | 15268558 | 15268558 | Nonsense_Mutation | C | A | p.E188* |
- 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 |
| HGC27_STOMACH | 15266866 | 15267057 | 15266982 | 15266982 | Missense_Mutation | G | A | p.A215V |
| HGC27_STOMACH | 15266805 | 15267057 | 15266982 | 15266982 | Missense_Mutation | G | A | p.A215V |
| FTC238_THYROID | 15266866 | 15267057 | 15267033 | 15267033 | Missense_Mutation | C | A | p.G198V |
| FTC238_THYROID | 15266805 | 15267057 | 15267033 | 15267033 | Missense_Mutation | C | A | p.G198V |
| FTC133_THYROID | 15266866 | 15267057 | 15267033 | 15267033 | Missense_Mutation | C | A | p.G198V |
| FTC133_THYROID | 15266805 | 15267057 | 15267033 | 15267033 | Missense_Mutation | C | A | p.G198V |
| DU145_PROSTATE | 15268552 | 15268686 | 15268681 | 15268681 | Missense_Mutation | C | T | p.V147M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASB9 |
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 ASB9 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASB9 |
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RelatedDrugs for ASB9 |
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 ASB9 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |