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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 INF2 |
 Gene summary |
| Gene information | Gene symbol | INF2 | Gene ID | 64423 |
| Gene name | inverted formin, FH2 and WH2 domain containing | |
| Synonyms | C14orf151|C14orf173|CMTDIE|FSGS5|pp9484 | |
| Cytomap | 14q32.33 | |
| Type of gene | protein-coding | |
| Description | inverted formin-2HBEAG-binding protein 2 binding protein CHBEBP2-binding protein C | |
| Modification date | 20180519 | |
| UniProtAcc | Q27J81 | |
| Context | PubMed: INF2 [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 INF2 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 INF2 |
| 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 INF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_110595 | 14 | 105155973:105156076:105167693:105168093:105169441:105169557 | 105167693:105168093 | ENSG00000203485.8 | ENST00000398337.4,ENST00000392634.4 |
| exon_skip_110598 | 14 | 105167693:105168093:105169441:105169557:105169631:105169791 | 105169441:105169557 | ENSG00000203485.8 | ENST00000398337.4,ENST00000392634.4,ENST00000330634.7 |
| exon_skip_110600 | 14 | 105169631:105169791:105170252:105170286:105172371:105172489 | 105170252:105170286 | ENSG00000203485.8 | ENST00000392634.4,ENST00000330634.7 |
| exon_skip_110603 | 14 | 105172371:105172513:105173246:105173388:105173589:105174339 | 105173246:105173388 | ENSG00000203485.8 | ENST00000392634.4,ENST00000330634.7 |
| exon_skip_110606 | 14 | 105173246:105173388:105173589:105174339:105174772:105174924 | 105173589:105174339 | ENSG00000203485.8 | ENST00000392634.4,ENST00000330634.7 |
| exon_skip_110608 | 14 | 105174868:105174924:105175007:105175069:105175617:105175720 | 105175007:105175069 | ENSG00000203485.8 | ENST00000392634.4,ENST00000330634.7,ENST00000252527.8 |
| exon_skip_110612 | 14 | 105176424:105176525:105177273:105177344:105177415:105177523 | 105177273:105177344 | ENSG00000203485.8 | ENST00000392634.4,ENST00000330634.7,ENST00000252527.8,ENST00000474229.1 |
| exon_skip_110613 | 14 | 105177273:105177344:105177415:105177523:105177965:105178001 | 105177415:105177523 | ENSG00000203485.8 | ENST00000392634.4,ENST00000330634.7,ENST00000252527.8,ENST00000474229.1 |
| exon_skip_110641 | 14 | 105180844:105181193:105181620:105181677:105183899:105183983 | 105181620:105181677 | ENSG00000203485.8 | ENST00000252527.8 |
| exon_skip_110642 | 14 | 105180998:105181193:105181620:105181677:105185131:105185940 | 105181620:105181677 | ENSG00000203485.8 | ENST00000392634.4 |
| exon_skip_110648 | 14 | 105181620:105181677:105183899:105183983:105185131:105185940 | 105183899:105183983 | ENSG00000203485.8 | ENST00000252527.8 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for INF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_110595 | 14 | 105155973:105156076:105167693:105168093:105169441:105169557 | 105167693:105168093 | ENSG00000203485.8 | ENST00000398337.4,ENST00000392634.4 |
| exon_skip_110598 | 14 | 105167693:105168093:105169441:105169557:105169631:105169791 | 105169441:105169557 | ENSG00000203485.8 | ENST00000330634.7,ENST00000398337.4,ENST00000392634.4 |
| exon_skip_110600 | 14 | 105169631:105169791:105170252:105170286:105172371:105172489 | 105170252:105170286 | ENSG00000203485.8 | ENST00000330634.7,ENST00000392634.4 |
| exon_skip_110603 | 14 | 105172371:105172513:105173246:105173388:105173589:105174339 | 105173246:105173388 | ENSG00000203485.8 | ENST00000330634.7,ENST00000392634.4 |
| exon_skip_110606 | 14 | 105173246:105173388:105173589:105174339:105174772:105174924 | 105173589:105174339 | ENSG00000203485.8 | ENST00000330634.7,ENST00000392634.4 |
| exon_skip_110608 | 14 | 105174868:105174924:105175007:105175069:105175617:105175720 | 105175007:105175069 | ENSG00000203485.8 | ENST00000330634.7,ENST00000392634.4,ENST00000252527.8 |
| exon_skip_110612 | 14 | 105176424:105176525:105177273:105177344:105177415:105177523 | 105177273:105177344 | ENSG00000203485.8 | ENST00000330634.7,ENST00000392634.4,ENST00000252527.8,ENST00000474229.1 |
| exon_skip_110613 | 14 | 105177273:105177344:105177415:105177523:105177965:105178001 | 105177415:105177523 | ENSG00000203485.8 | ENST00000330634.7,ENST00000392634.4,ENST00000252527.8,ENST00000474229.1 |
| exon_skip_110641 | 14 | 105180844:105181193:105181620:105181677:105183899:105183983 | 105181620:105181677 | ENSG00000203485.8 | ENST00000252527.8 |
| exon_skip_110642 | 14 | 105180998:105181193:105181620:105181677:105185131:105185940 | 105181620:105181677 | ENSG00000203485.8 | ENST00000392634.4 |
| exon_skip_110648 | 14 | 105181620:105181677:105183899:105183983:105185131:105185940 | 105183899:105183983 | ENSG00000203485.8 | ENST00000252527.8 |
| 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 INF2 |
| 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 |
| ENST00000392634 | 105181620 | 105181677 | 3UTR-3CDS |
| ENST00000392634 | 105167693 | 105168093 | 5CDS-5UTR |
| ENST00000392634 | 105169441 | 105169557 | Frame-shift |
| ENST00000392634 | 105170252 | 105170286 | Frame-shift |
| ENST00000392634 | 105173246 | 105173388 | Frame-shift |
| ENST00000392634 | 105175007 | 105175069 | Frame-shift |
| ENST00000392634 | 105177273 | 105177344 | Frame-shift |
| ENST00000392634 | 105173589 | 105174339 | In-frame |
| ENST00000392634 | 105177415 | 105177523 | 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 |
| ENST00000392634 | 105181620 | 105181677 | 3UTR-3CDS |
| ENST00000392634 | 105167693 | 105168093 | 5CDS-5UTR |
| ENST00000392634 | 105169441 | 105169557 | Frame-shift |
| ENST00000392634 | 105170252 | 105170286 | Frame-shift |
| ENST00000392634 | 105173246 | 105173388 | Frame-shift |
| ENST00000392634 | 105175007 | 105175069 | Frame-shift |
| ENST00000392634 | 105177273 | 105177344 | Frame-shift |
| ENST00000392634 | 105173589 | 105174339 | In-frame |
| ENST00000392634 | 105177415 | 105177523 | In-frame |
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Infer the effects of exon skipping event on protein functional features for INF2 |
| 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 |
| ENST00000392634 | 4689 | 1249 | 105173589 | 105174339 | 1098 | 1847 | 328 | 578 |
| ENST00000392634 | 4689 | 1249 | 105177415 | 105177523 | 2423 | 2530 | 770 | 806 |
| 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 |
| ENST00000392634 | 4689 | 1249 | 105173589 | 105174339 | 1098 | 1847 | 328 | 578 |
| ENST00000392634 | 4689 | 1249 | 105177415 | 105177523 | 2423 | 2530 | 770 | 806 |
| 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 |
| Q27J81 | 328 | 578 | 235 | 1249 | Alternative sequence | ID=VSP_029360;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q27J81 | 328 | 578 | 2 | 1249 | Chain | ID=PRO_0000310963;Note=Inverted formin-2 |
| Q27J81 | 328 | 578 | 389 | 393 | Compositional bias | Note=Poly-Ala |
| Q27J81 | 328 | 578 | 421 | 520 | Compositional bias | Note=Pro-rich |
| Q27J81 | 328 | 578 | 2 | 330 | Domain | Note=GBD/FH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00579 |
| Q27J81 | 328 | 578 | 554 | 946 | Domain | Note=FH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00774 |
| Q27J81 | 328 | 578 | 351 | 351 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q27J81 | 328 | 578 | 547 | 547 | Natural variant | ID=VAR_072237;Note=G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21866090;Dbxref=dbSNP:rs376451593,PMID:21866090 |
| Q27J81 | 770 | 806 | 235 | 1249 | Alternative sequence | ID=VSP_029360;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q27J81 | 770 | 806 | 2 | 1249 | Chain | ID=PRO_0000310963;Note=Inverted formin-2 |
| Q27J81 | 770 | 806 | 554 | 946 | Domain | Note=FH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00774 |
| 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 |
| Q27J81 | 328 | 578 | 235 | 1249 | Alternative sequence | ID=VSP_029360;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q27J81 | 328 | 578 | 2 | 1249 | Chain | ID=PRO_0000310963;Note=Inverted formin-2 |
| Q27J81 | 328 | 578 | 389 | 393 | Compositional bias | Note=Poly-Ala |
| Q27J81 | 328 | 578 | 421 | 520 | Compositional bias | Note=Pro-rich |
| Q27J81 | 328 | 578 | 2 | 330 | Domain | Note=GBD/FH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00579 |
| Q27J81 | 328 | 578 | 554 | 946 | Domain | Note=FH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00774 |
| Q27J81 | 328 | 578 | 351 | 351 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q27J81 | 328 | 578 | 547 | 547 | Natural variant | ID=VAR_072237;Note=G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21866090;Dbxref=dbSNP:rs376451593,PMID:21866090 |
| Q27J81 | 770 | 806 | 235 | 1249 | Alternative sequence | ID=VSP_029360;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q27J81 | 770 | 806 | 2 | 1249 | Chain | ID=PRO_0000310963;Note=Inverted formin-2 |
| Q27J81 | 770 | 806 | 554 | 946 | Domain | Note=FH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00774 |
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SNVs in the skipped exons for INF2 |
| - 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. |
INF2_COAD_exon_skip_110606_psi_boxplot.png |
INF2_ESCA_exon_skip_110606_psi_boxplot.png |
INF2_LGG_exon_skip_110606_psi_boxplot.png |
INF2_PAAD_exon_skip_110606_psi_boxplot.png |
INF2_STAD_exon_skip_110606_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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_110595 | 105167694 | 105168093 | 105167756 | 105167756 | Frame_Shift_Del | G | - | p.L18fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_110598 | 105169442 | 105169557 | 105169480 | 105169480 | Frame_Shift_Del | T | - | p.F144fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_110603 | 105173247 | 105173388 | 105173291 | 105173291 | Frame_Shift_Del | G | - | p.Q296fs |
| ESCA | TCGA-LN-A49W-01 | exon_skip_110606 | 105173590 | 105174339 | 105173657 | 105173657 | Frame_Shift_Del | C | - | p.L353fs |
| COAD | TCGA-G4-6294-01 | exon_skip_110606 | 105173590 | 105174339 | 105173873 | 105173873 | Frame_Shift_Del | A | - | p.P423fs |
| COAD | TCGA-AY-6197-01 | exon_skip_110606 | 105173590 | 105174339 | 105174013 | 105174013 | Frame_Shift_Del | C | - | p.A470fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_110606 | 105173590 | 105174339 | 105174117 | 105174117 | Frame_Shift_Del | C | - | p.P505fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_110606 | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| STAD | TCGA-BR-4361-01 | exon_skip_110606 | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| STAD | TCGA-BR-8487-01 | exon_skip_110606 | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| STAD | TCGA-CG-4465-01 | exon_skip_110606 | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| STAD | TCGA-CG-5723-01 | exon_skip_110606 | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| STAD | TCGA-HU-8602-01 | exon_skip_110606 | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_110606 | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| UCEC | TCGA-AP-A0LT-01 | exon_skip_110606 | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| UCEC | TCGA-D1-A163-01 | exon_skip_110606 | 105173590 | 105174339 | 105174184 | 105174185 | Frame_Shift_Ins | - | C | p.S527fs |
| BLCA | TCGA-FD-A5BY-01 | exon_skip_110606 | 105173590 | 105174339 | 105174270 | 105174271 | Frame_Shift_Ins | - | G | p.R556fs |
| GBM | TCGA-06-0237-01 | exon_skip_110606 | 105173590 | 105174339 | 105174270 | 105174271 | Frame_Shift_Ins | - | G | p.R556fs |
| LGG | TCGA-HT-A61B-01 | exon_skip_110606 | 105173590 | 105174339 | 105174270 | 105174271 | Frame_Shift_Ins | - | G | p.G556fs |
| PAAD | TCGA-HZ-8317-01 | exon_skip_110606 | 105173590 | 105174339 | 105174270 | 105174271 | Frame_Shift_Ins | - | G | p.G556fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-G4-6294-01 |
| Cancer type: COAD | |
| ESID: exon_skip_110606 | |
| Skipped exon start: 105173590 | |
| Skipped exon end: 105174339 | |
| Mutation start: 105173873 | |
| Mutation end: 105173873 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.P423fs | |
exon_skip_110606_COAD_TCGA-G4-6294-01.png | |
exon_skip_60086_COAD_TCGA-G4-6294-01.png | |
exon_skip_60089_COAD_TCGA-G4-6294-01.png | |
 | Sample: TCGA-AY-6197-01 |
| Cancer type: COAD | |
| ESID: exon_skip_110606 | |
| Skipped exon start: 105173590 | |
| Skipped exon end: 105174339 | |
| Mutation start: 105174013 | |
| Mutation end: 105174013 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.A470fs | |
exon_skip_110606_COAD_TCGA-AY-6197-01.png | |
exon_skip_121022_COAD_TCGA-AY-6197-01.png | |
exon_skip_315782_COAD_TCGA-AY-6197-01.png | |
exon_skip_320294_COAD_TCGA-AY-6197-01.png | |
exon_skip_331095_COAD_TCGA-AY-6197-01.png | |
exon_skip_331623_COAD_TCGA-AY-6197-01.png | |
exon_skip_339350_COAD_TCGA-AY-6197-01.png | |
exon_skip_343170_COAD_TCGA-AY-6197-01.png | |
exon_skip_40234_COAD_TCGA-AY-6197-01.png | |
exon_skip_40235_COAD_TCGA-AY-6197-01.png | |
exon_skip_449340_COAD_TCGA-AY-6197-01.png | |
exon_skip_489149_COAD_TCGA-AY-6197-01.png | |
exon_skip_77460_COAD_TCGA-AY-6197-01.png | |
 | Sample: TCGA-LN-A49W-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_110606 | |
| Skipped exon start: 105173590 | |
| Skipped exon end: 105174339 | |
| Mutation start: 105173657 | |
| Mutation end: 105173657 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.L353fs | |
exon_skip_110606_ESCA_TCGA-LN-A49W-01.png | |
exon_skip_474097_ESCA_TCGA-LN-A49W-01.png | |
 | Sample: TCGA-HT-A61B-01 |
| Cancer type: LGG | |
| ESID: exon_skip_110606 | |
| Skipped exon start: 105173590 | |
| Skipped exon end: 105174339 | |
| Mutation start: 105174270 | |
| Mutation end: 105174271 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.G556fs | |
exon_skip_110606_LGG_TCGA-HT-A61B-01.png | |
 | Sample: TCGA-HZ-8317-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_110606 | |
| Skipped exon start: 105173590 | |
| Skipped exon end: 105174339 | |
| Mutation start: 105174270 | |
| Mutation end: 105174271 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.G556fs | |
exon_skip_110606_PAAD_TCGA-HZ-8317-01.png | |
 | Sample: TCGA-BR-8487-01 |
| Cancer type: STAD | |
| ESID: exon_skip_110606 | |
| Skipped exon start: 105173590 | |
| Skipped exon end: 105174339 | |
| Mutation start: 105174185 | |
| Mutation end: 105174185 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S527fs | |
exon_skip_110606_STAD_TCGA-BR-8487-01.png | |
exon_skip_13071_STAD_TCGA-BR-8487-01.png | |
exon_skip_311841_STAD_TCGA-BR-8487-01.png | |
exon_skip_313312_STAD_TCGA-BR-8487-01.png | |
exon_skip_313316_STAD_TCGA-BR-8487-01.png | |
exon_skip_313367_STAD_TCGA-BR-8487-01.png | |
exon_skip_325448_STAD_TCGA-BR-8487-01.png | |
exon_skip_33313_STAD_TCGA-BR-8487-01.png | |
exon_skip_359494_STAD_TCGA-BR-8487-01.png | |
exon_skip_430601_STAD_TCGA-BR-8487-01.png | |
exon_skip_430604_STAD_TCGA-BR-8487-01.png | |
exon_skip_430616_STAD_TCGA-BR-8487-01.png | |
exon_skip_440411_STAD_TCGA-BR-8487-01.png | |
exon_skip_440412_STAD_TCGA-BR-8487-01.png | |
exon_skip_458582_STAD_TCGA-BR-8487-01.png | |
exon_skip_468869_STAD_TCGA-BR-8487-01.png | |
exon_skip_475355_STAD_TCGA-BR-8487-01.png | |
exon_skip_495683_STAD_TCGA-BR-8487-01.png | |
exon_skip_503611_STAD_TCGA-BR-8487-01.png | |
exon_skip_56463_STAD_TCGA-BR-8487-01.png | |
exon_skip_68768_STAD_TCGA-BR-8487-01.png | |
exon_skip_84502_STAD_TCGA-BR-8487-01.png | |
 | Sample: TCGA-CG-4465-01 |
| Cancer type: STAD | |
| ESID: exon_skip_110606 | |
| Skipped exon start: 105173590 | |
| Skipped exon end: 105174339 | |
| Mutation start: 105174185 | |
| Mutation end: 105174185 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S527fs | |
exon_skip_110606_STAD_TCGA-CG-4465-01.png | |
exon_skip_307695_STAD_TCGA-CG-4465-01.png | |
exon_skip_430686_STAD_TCGA-CG-4465-01.png | |
exon_skip_436589_STAD_TCGA-CG-4465-01.png | |
exon_skip_457139_STAD_TCGA-CG-4465-01.png | |
exon_skip_471970_STAD_TCGA-CG-4465-01.png | |
 | Sample: TCGA-HU-8602-01 |
| Cancer type: STAD | |
| ESID: exon_skip_110606 | |
| Skipped exon start: 105173590 | |
| Skipped exon end: 105174339 | |
| Mutation start: 105174185 | |
| Mutation end: 105174185 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S527fs | |
exon_skip_110606_STAD_TCGA-HU-8602-01.png | |
exon_skip_12723_STAD_TCGA-HU-8602-01.png | |
exon_skip_12741_STAD_TCGA-HU-8602-01.png | |
exon_skip_129202_STAD_TCGA-HU-8602-01.png | |
exon_skip_142361_STAD_TCGA-HU-8602-01.png | |
exon_skip_17013_STAD_TCGA-HU-8602-01.png | |
exon_skip_28391_STAD_TCGA-HU-8602-01.png | |
exon_skip_328529_STAD_TCGA-HU-8602-01.png | |
exon_skip_35193_STAD_TCGA-HU-8602-01.png | |
exon_skip_364609_STAD_TCGA-HU-8602-01.png | |
exon_skip_3733_STAD_TCGA-HU-8602-01.png | |
exon_skip_3734_STAD_TCGA-HU-8602-01.png | |
exon_skip_424540_STAD_TCGA-HU-8602-01.png | |
exon_skip_443675_STAD_TCGA-HU-8602-01.png | |
exon_skip_466134_STAD_TCGA-HU-8602-01.png | |
exon_skip_475115_STAD_TCGA-HU-8602-01.png | |
exon_skip_482067_STAD_TCGA-HU-8602-01.png | |
exon_skip_489785_STAD_TCGA-HU-8602-01.png | |
exon_skip_489794_STAD_TCGA-HU-8602-01.png | |
exon_skip_493826_STAD_TCGA-HU-8602-01.png | |
exon_skip_493827_STAD_TCGA-HU-8602-01.png | |
exon_skip_51385_STAD_TCGA-HU-8602-01.png | |
exon_skip_81726_STAD_TCGA-HU-8602-01.png | |
exon_skip_84502_STAD_TCGA-HU-8602-01.png | |
exon_skip_96034_STAD_TCGA-HU-8602-01.png | |
 | Sample: TCGA-BR-4361-01 |
| Cancer type: STAD | |
| ESID: exon_skip_110606 | |
| Skipped exon start: 105173590 | |
| Skipped exon end: 105174339 | |
| Mutation start: 105174185 | |
| Mutation end: 105174185 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S527fs | |
exon_skip_110606_STAD_TCGA-BR-4361-01.png | |
exon_skip_293444_STAD_TCGA-BR-4361-01.png | |
exon_skip_30776_STAD_TCGA-BR-4361-01.png | |
exon_skip_30782_STAD_TCGA-BR-4361-01.png | |
exon_skip_30792_STAD_TCGA-BR-4361-01.png | |
exon_skip_309972_STAD_TCGA-BR-4361-01.png | |
exon_skip_326683_STAD_TCGA-BR-4361-01.png | |
exon_skip_328488_STAD_TCGA-BR-4361-01.png | |
exon_skip_365627_STAD_TCGA-BR-4361-01.png | |
exon_skip_425876_STAD_TCGA-BR-4361-01.png | |
exon_skip_43854_STAD_TCGA-BR-4361-01.png | |
exon_skip_439047_STAD_TCGA-BR-4361-01.png | |
exon_skip_439048_STAD_TCGA-BR-4361-01.png | |
exon_skip_442657_STAD_TCGA-BR-4361-01.png | |
exon_skip_447822_STAD_TCGA-BR-4361-01.png | |
exon_skip_489149_STAD_TCGA-BR-4361-01.png | |
exon_skip_59757_STAD_TCGA-BR-4361-01.png | |
exon_skip_80320_STAD_TCGA-BR-4361-01.png | |
 | Sample: TCGA-D1-A163-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_110606 | |
| Skipped exon start: 105173590 | |
| Skipped exon end: 105174339 | |
| Mutation start: 105174184 | |
| Mutation end: 105174185 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.S527fs | |
exon_skip_110606_UCEC_TCGA-D1-A163-01.png | |
exon_skip_370065_UCEC_TCGA-D1-A163-01.png | |
exon_skip_442649_UCEC_TCGA-D1-A163-01.png | |
exon_skip_92984_UCEC_TCGA-D1-A163-01.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 |
| HEC59_ENDOMETRIUM | 105173590 | 105174339 | 105173737 | 105173737 | Frame_Shift_Del | C | - | p.T378fs |
| NB14_AUTONOMIC_GANGLIA | 105173590 | 105174339 | 105173807 | 105173810 | Frame_Shift_Del | GAGT | - | p.QS401fs |
| PACADD137_PANCREAS | 105173590 | 105174339 | 105173976 | 105173976 | Frame_Shift_Del | C | - | p.P462fs |
| MDAPCA2B_PROSTATE | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| AN3CA_ENDOMETRIUM | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| CW2_LARGE_INTESTINE | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| MFE319_ENDOMETRIUM | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105173590 | 105174339 | 105174185 | 105174185 | Frame_Shift_Del | C | - | p.S527fs |
| HEC59_ENDOMETRIUM | 105167694 | 105168093 | 105167776 | 105167776 | Missense_Mutation | C | A | p.P25H |
| NCIH196_LUNG | 105167694 | 105168093 | 105167867 | 105167867 | Missense_Mutation | G | T | p.K55N |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105167694 | 105168093 | 105167877 | 105167877 | Missense_Mutation | G | A | p.G59S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 105167694 | 105168093 | 105167877 | 105167877 | Missense_Mutation | G | A | p.G59S |
| HCC1428_BREAST | 105167694 | 105168093 | 105167937 | 105167937 | Missense_Mutation | G | A | p.E79K |
| RL952_ENDOMETRIUM | 105167694 | 105168093 | 105167956 | 105167956 | Missense_Mutation | C | T | p.S85L |
| JHUEM1_ENDOMETRIUM | 105167694 | 105168093 | 105168018 | 105168018 | Missense_Mutation | C | T | p.R106C |
| SNU1040_LARGE_INTESTINE | 105167694 | 105168093 | 105168018 | 105168018 | Missense_Mutation | C | T | p.R106C |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 105169442 | 105169557 | 105169475 | 105169475 | Missense_Mutation | A | G | p.Q142R |
| NCIH322_LUNG | 105169442 | 105169557 | 105169543 | 105169543 | Missense_Mutation | C | A | p.L165M |
| HCT15_LARGE_INTESTINE | 105173247 | 105173388 | 105173260 | 105173260 | Missense_Mutation | C | T | p.P286L |
| CW2_LARGE_INTESTINE | 105173247 | 105173388 | 105173260 | 105173260 | Missense_Mutation | C | G | p.P286R |
| HCT15_LARGE_INTESTINE | 105173247 | 105173388 | 105173310 | 105173310 | Missense_Mutation | C | T | p.P303S |
| CHSA0011_BONE | 105173590 | 105174339 | 105173722 | 105173722 | Missense_Mutation | C | T | p.P373L |
| YD8_UPPER_AERODIGESTIVE_TRACT | 105173590 | 105174339 | 105173752 | 105173752 | Missense_Mutation | T | G | p.V383G |
| SEKI_SKIN | 105173590 | 105174339 | 105173757 | 105173757 | Missense_Mutation | G | A | p.G385S |
| SCLC22H_LUNG | 105173590 | 105174339 | 105173830 | 105173830 | Missense_Mutation | C | T | p.S409L |
| SCLC21H_LUNG | 105173590 | 105174339 | 105173830 | 105173830 | Missense_Mutation | C | T | p.S409L |
| NCIH69_LUNG | 105173590 | 105174339 | 105173883 | 105173883 | Missense_Mutation | C | A | p.P427T |
| SW626_OVARY | 105173590 | 105174339 | 105173992 | 105173992 | Missense_Mutation | T | C | p.L463P |
| BFTC905_URINARY_TRACT | 105173590 | 105174339 | 105174108 | 105174108 | Missense_Mutation | C | T | p.P502S |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105173590 | 105174339 | 105174223 | 105174223 | Missense_Mutation | C | T | p.A540V |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105173590 | 105174339 | 105174325 | 105174325 | Missense_Mutation | C | T | p.S574F |
| GIMEN_AUTONOMIC_GANGLIA | 105173590 | 105174339 | 105174337 | 105174337 | Missense_Mutation | G | C | p.R578P |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105175008 | 105175069 | 105175035 | 105175035 | Missense_Mutation | C | A | p.L639M |
| NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105177416 | 105177523 | 105177420 | 105177420 | Missense_Mutation | G | A | p.S772N |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 105177416 | 105177523 | 105177492 | 105177492 | Missense_Mutation | A | G | p.N796S |
| SNUC2A_LARGE_INTESTINE | 105177416 | 105177523 | 105177495 | 105177495 | Missense_Mutation | G | A | p.R797H |
| SNU407_LARGE_INTESTINE | 105177416 | 105177523 | 105177501 | 105177501 | Missense_Mutation | C | T | p.T799M |
| HEC1A_ENDOMETRIUM | 105177416 | 105177523 | 105177515 | 105177515 | Missense_Mutation | G | A | p.V804M |
| HEC1B_ENDOMETRIUM | 105177416 | 105177523 | 105177515 | 105177515 | Missense_Mutation | G | A | p.V804M |
| KPL1_BREAST | 105181621 | 105181677 | 105181642 | 105181642 | Missense_Mutation | A | C | p.D1239A |
| SW48_LARGE_INTESTINE | 105170253 | 105170286 | 105170285 | 105170285 | Splice_Site | C | T | p.R234* |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105177274 | 105177344 | 105177343 | 105177343 | Splice_Site | A | G | p.Y770C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for INF2 |
| 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 INF2 |
 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for INF2 |
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RelatedDrugs for INF2 |
| 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 INF2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| INF2 | C2750475 | Focal Segmental Glomerulosclerosis 5 | 5 | CTD_human;UNIPROT |
| INF2 | C3280845 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | 5 | ORPHANET;UNIPROT |
| INF2 | C0017668 | Focal glomerulosclerosis | 1 | CTD_human |
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