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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 IFT88 |
 Gene summary |
| Gene information | Gene symbol | IFT88 | Gene ID | 8100 |
| Gene name | intraflagellar transport 88 | |
| Synonyms | D13S1056E|DAF19|TG737|TTC10|hTg737 | |
| Cytomap | 13q12.11 | |
| Type of gene | protein-coding | |
| Description | intraflagellar transport protein 88 homologTPR repeat protein 10intraflagellar transport 88 homologpolaris homologprobe hTg737 (polycystic kidney disease, autosomal recessive)recessive polycystic kidney disease protein Tg737 homologtesticular tissue | |
| Modification date | 20180523 | |
| UniProtAcc | Q13099 | |
| Context | PubMed: IFT88 [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 IFT88 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 IFT88 |
| 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 IFT88 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99292 | 13 | 21141304:21141395:21141808:21141924:21142023:21142136 | 21141808:21141924 | ENSG00000032742.13 | ENST00000319980.6 |
| exon_skip_99297 | 13 | 21141304:21141395:21141808:21142136:21148518:21148614 | 21141808:21142136 | ENSG00000032742.13 | ENST00000389373.3 |
| exon_skip_99308 | 13 | 21141304:21141395:21148518:21148614:21157095:21157155 | 21148518:21148614 | ENSG00000032742.13 | ENST00000351808.5,ENST00000537103.1 |
| exon_skip_99309 | 13 | 21141808:21141924:21142023:21142136:21148518:21148614 | 21142023:21142136 | ENSG00000032742.13 | ENST00000319980.6 |
| exon_skip_99314 | 13 | 21142023:21142136:21148518:21148614:21157095:21157155 | 21148518:21148614 | ENSG00000032742.13 | ENST00000389373.3,ENST00000319980.6,ENST00000382778.4 |
| exon_skip_99315 | 13 | 21157095:21157158:21163949:21164006:21165105:21165159 | 21163949:21164006 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000382778.4 |
| exon_skip_99316 | 13 | 21165756:21165820:21166473:21166543:21170288:21170379 | 21166473:21166543 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 |
| exon_skip_99317 | 13 | 21172789:21172892:21173589:21173704:21175843:21176072 | 21173589:21173704 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 |
| exon_skip_99320 | 13 | 21179194:21179244:21188495:21188574:21189931:21190018 | 21188495:21188574 | ENSG00000032742.13 | ENST00000461115.1 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 |
| exon_skip_99325 | 13 | 21189931:21190018:21199888:21199988:21205154:21205241 | 21199888:21199988 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000461115.1,ENST00000537103.1,ENST00000382778.4,ENST00000482172.1 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 |
| exon_skip_99338 | 13 | 21205155:21205241:21212470:21212657:21215428:21215537 | 21212470:21212657 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000460931.1,ENST00000537103.1,ENST00000382778.4 |
| exon_skip_99343 | 13 | 21217593:21217744:21218981:21219097:21228014:21228067 | 21218981:21219097 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 |
| exon_skip_99344 | 13 | 21228014:21228067:21230503:21230569:21237636:21237743 | 21230503:21230569 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENSG00000032742.13 | ENST00000382778.4,ENST00000482172.1 |
| exon_skip_99350 | 13 | 21230503:21230569:21237636:21237743:21245111:21245178 | 21237636:21237743 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1 |
| exon_skip_99354 | 13 | 21237636:21237743:21245111:21245178:21264843:21264954 | 21245111:21245178 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4,ENST00000482172.1 |
| exon_skip_99355 | 13 | 21245111:21245178:21264843:21264954:21265192:21265356 | 21264843:21264954 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4,ENST00000482172.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IFT88 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99292 | 13 | 21141304:21141395:21141808:21141924:21142023:21142136 | 21141808:21141924 | ENSG00000032742.13 | ENST00000319980.6 |
| exon_skip_99297 | 13 | 21141304:21141395:21141808:21142136:21148518:21148614 | 21141808:21142136 | ENSG00000032742.13 | ENST00000389373.3 |
| exon_skip_99308 | 13 | 21141304:21141395:21148518:21148614:21157095:21157155 | 21148518:21148614 | ENSG00000032742.13 | ENST00000351808.5,ENST00000537103.1 |
| exon_skip_99309 | 13 | 21141808:21141924:21142023:21142136:21148518:21148614 | 21142023:21142136 | ENSG00000032742.13 | ENST00000319980.6 |
| exon_skip_99314 | 13 | 21142023:21142136:21148518:21148614:21157095:21157155 | 21148518:21148614 | ENSG00000032742.13 | ENST00000382778.4,ENST00000319980.6,ENST00000389373.3 |
| exon_skip_99315 | 13 | 21157095:21157158:21163949:21164006:21165105:21165159 | 21163949:21164006 | ENSG00000032742.13 | ENST00000382778.4,ENST00000351808.5,ENST00000319980.6 |
| exon_skip_99316 | 13 | 21165756:21165820:21166473:21166543:21170288:21170379 | 21166473:21166543 | ENSG00000032742.13 | ENST00000382778.4,ENST00000351808.5,ENST00000319980.6,ENST00000537103.1 |
| exon_skip_99317 | 13 | 21172789:21172892:21173589:21173704:21175843:21176072 | 21173589:21173704 | ENSG00000032742.13 | ENST00000382778.4,ENST00000351808.5,ENST00000319980.6,ENST00000537103.1 |
| exon_skip_99320 | 13 | 21179194:21179244:21188495:21188574:21189931:21190018 | 21188495:21188574 | ENSG00000032742.13 | ENST00000461115.1 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENSG00000032742.13 | ENST00000382778.4,ENST00000351808.5,ENST00000319980.6,ENST00000537103.1 |
| exon_skip_99325 | 13 | 21189931:21190018:21199888:21199988:21205154:21205241 | 21199888:21199988 | ENSG00000032742.13 | ENST00000382778.4,ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000461115.1,ENST00000482172.1 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENSG00000032742.13 | ENST00000382778.4,ENST00000351808.5,ENST00000319980.6,ENST00000537103.1 |
| exon_skip_99338 | 13 | 21205155:21205241:21212470:21212657:21215428:21215537 | 21212470:21212657 | ENSG00000032742.13 | ENST00000382778.4,ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000460931.1 |
| exon_skip_99343 | 13 | 21217593:21217744:21218981:21219097:21228014:21228067 | 21218981:21219097 | ENSG00000032742.13 | ENST00000382778.4,ENST00000351808.5,ENST00000319980.6,ENST00000537103.1 |
| exon_skip_99344 | 13 | 21228014:21228067:21230503:21230569:21237636:21237743 | 21230503:21230569 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENSG00000032742.13 | ENST00000382778.4,ENST00000482172.1 |
| exon_skip_99350 | 13 | 21230503:21230569:21237636:21237743:21245111:21245178 | 21237636:21237743 | ENSG00000032742.13 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1 |
| exon_skip_99354 | 13 | 21237636:21237743:21245111:21245178:21264843:21264954 | 21245111:21245178 | ENSG00000032742.13 | ENST00000382778.4,ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000482172.1 |
| exon_skip_99355 | 13 | 21245111:21245178:21264843:21264954:21265192:21265356 | 21264843:21264954 | ENSG00000032742.13 | ENST00000382778.4,ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000482172.1 |
| 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 IFT88 |
| 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 |
| ENST00000319980 | 21142023 | 21142136 | 5CDS-5UTR |
| ENST00000319980 | 21141808 | 21141924 | 5UTR-5UTR |
| ENST00000319980 | 21166473 | 21166543 | Frame-shift |
| ENST00000319980 | 21173589 | 21173704 | Frame-shift |
| ENST00000319980 | 21199888 | 21199988 | Frame-shift |
| ENST00000319980 | 21212470 | 21212657 | Frame-shift |
| ENST00000319980 | 21218981 | 21219097 | Frame-shift |
| ENST00000319980 | 21237636 | 21237743 | Frame-shift |
| ENST00000319980 | 21245111 | 21245178 | Frame-shift |
| ENST00000319980 | 21148518 | 21148614 | In-frame |
| ENST00000319980 | 21163949 | 21164006 | In-frame |
| ENST00000319980 | 21189931 | 21190018 | In-frame |
| ENST00000319980 | 21205154 | 21205241 | In-frame |
| ENST00000319980 | 21230503 | 21230569 | In-frame |
| ENST00000319980 | 21264843 | 21264954 | 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 |
| ENST00000319980 | 21142023 | 21142136 | 5CDS-5UTR |
| ENST00000319980 | 21141808 | 21141924 | 5UTR-5UTR |
| ENST00000319980 | 21166473 | 21166543 | Frame-shift |
| ENST00000319980 | 21173589 | 21173704 | Frame-shift |
| ENST00000319980 | 21199888 | 21199988 | Frame-shift |
| ENST00000319980 | 21212470 | 21212657 | Frame-shift |
| ENST00000319980 | 21218981 | 21219097 | Frame-shift |
| ENST00000319980 | 21237636 | 21237743 | Frame-shift |
| ENST00000319980 | 21245111 | 21245178 | Frame-shift |
| ENST00000319980 | 21148518 | 21148614 | In-frame |
| ENST00000319980 | 21163949 | 21164006 | In-frame |
| ENST00000319980 | 21189931 | 21190018 | In-frame |
| ENST00000319980 | 21205154 | 21205241 | In-frame |
| ENST00000319980 | 21230503 | 21230569 | In-frame |
| ENST00000319980 | 21264843 | 21264954 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IFT88 |
| 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 |
| ENST00000319980 | 3035 | 833 | 21148518 | 21148614 | 349 | 444 | 7 | 39 |
| ENST00000319980 | 3035 | 833 | 21163949 | 21164006 | 508 | 564 | 60 | 79 |
| ENST00000319980 | 3035 | 833 | 21189931 | 21190018 | 1467 | 1553 | 380 | 408 |
| ENST00000319980 | 3035 | 833 | 21205154 | 21205241 | 1654 | 1740 | 442 | 471 |
| ENST00000319980 | 3035 | 833 | 21230503 | 21230569 | 2357 | 2422 | 676 | 698 |
| ENST00000319980 | 3035 | 833 | 21264843 | 21264954 | 2597 | 2707 | 756 | 793 |
| 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 |
| ENST00000319980 | 3035 | 833 | 21148518 | 21148614 | 349 | 444 | 7 | 39 |
| ENST00000319980 | 3035 | 833 | 21163949 | 21164006 | 508 | 564 | 60 | 79 |
| ENST00000319980 | 3035 | 833 | 21189931 | 21190018 | 1467 | 1553 | 380 | 408 |
| ENST00000319980 | 3035 | 833 | 21205154 | 21205241 | 1654 | 1740 | 442 | 471 |
| ENST00000319980 | 3035 | 833 | 21230503 | 21230569 | 2357 | 2422 | 676 | 698 |
| ENST00000319980 | 3035 | 833 | 21264843 | 21264954 | 2597 | 2707 | 756 | 793 |
| 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 |
| Q13099 | 7 | 39 | 1 | 9 | Alternative sequence | ID=VSP_035429;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7633404;Dbxref=PMID:7633404 |
| Q13099 | 7 | 39 | 1 | 833 | Chain | ID=PRO_0000106391;Note=Intraflagellar transport protein 88 homolog |
| Q13099 | 60 | 79 | 61 | 79 | Alternative sequence | ID=VSP_040620;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q13099 | 60 | 79 | 1 | 833 | Chain | ID=PRO_0000106391;Note=Intraflagellar transport protein 88 homolog |
| Q13099 | 380 | 408 | 1 | 833 | Chain | ID=PRO_0000106391;Note=Intraflagellar transport protein 88 homolog |
| Q13099 | 380 | 408 | 383 | 383 | Natural variant | ID=VAR_046464;Note=M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2442455,PMID:15489334 |
| Q13099 | 380 | 408 | 388 | 388 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13099 | 380 | 408 | 389 | 389 | Sequence conflict | Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13099 | 380 | 408 | 407 | 407 | Sequence conflict | Note=Y->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13099 | 442 | 471 | 1 | 833 | Chain | ID=PRO_0000106391;Note=Intraflagellar transport protein 88 homolog |
| Q13099 | 442 | 471 | 455 | 455 | Natural variant | ID=VAR_046465;Note=S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7633404;Dbxref=dbSNP:rs9509307,PMID:7633404 |
| Q13099 | 442 | 471 | 424 | 457 | Repeat | Note=TPR 5 |
| Q13099 | 442 | 471 | 459 | 492 | Repeat | Note=TPR 6 |
| Q13099 | 676 | 698 | 1 | 833 | Chain | ID=PRO_0000106391;Note=Intraflagellar transport protein 88 homolog |
| Q13099 | 676 | 698 | 663 | 696 | Repeat | Note=TPR 12 |
| Q13099 | 756 | 793 | 1 | 833 | Chain | ID=PRO_0000106391;Note=Intraflagellar transport protein 88 homolog |
| 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 |
| Q13099 | 7 | 39 | 1 | 9 | Alternative sequence | ID=VSP_035429;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7633404;Dbxref=PMID:7633404 |
| Q13099 | 7 | 39 | 1 | 833 | Chain | ID=PRO_0000106391;Note=Intraflagellar transport protein 88 homolog |
| Q13099 | 60 | 79 | 61 | 79 | Alternative sequence | ID=VSP_040620;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q13099 | 60 | 79 | 1 | 833 | Chain | ID=PRO_0000106391;Note=Intraflagellar transport protein 88 homolog |
| Q13099 | 380 | 408 | 1 | 833 | Chain | ID=PRO_0000106391;Note=Intraflagellar transport protein 88 homolog |
| Q13099 | 380 | 408 | 383 | 383 | Natural variant | ID=VAR_046464;Note=M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2442455,PMID:15489334 |
| Q13099 | 380 | 408 | 388 | 388 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13099 | 380 | 408 | 389 | 389 | Sequence conflict | Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13099 | 380 | 408 | 407 | 407 | Sequence conflict | Note=Y->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13099 | 442 | 471 | 1 | 833 | Chain | ID=PRO_0000106391;Note=Intraflagellar transport protein 88 homolog |
| Q13099 | 442 | 471 | 455 | 455 | Natural variant | ID=VAR_046465;Note=S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7633404;Dbxref=dbSNP:rs9509307,PMID:7633404 |
| Q13099 | 442 | 471 | 424 | 457 | Repeat | Note=TPR 5 |
| Q13099 | 442 | 471 | 459 | 492 | Repeat | Note=TPR 6 |
| Q13099 | 676 | 698 | 1 | 833 | Chain | ID=PRO_0000106391;Note=Intraflagellar transport protein 88 homolog |
| Q13099 | 676 | 698 | 663 | 696 | Repeat | Note=TPR 12 |
| Q13099 | 756 | 793 | 1 | 833 | Chain | ID=PRO_0000106391;Note=Intraflagellar transport protein 88 homolog |
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SNVs in the skipped exons for IFT88 |
| - 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. |
IFT88_COAD_exon_skip_99321_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-A39Y-01 | exon_skip_99314 exon_skip_99308 | 21148519 | 21148614 | 21148523 | 21148523 | Frame_Shift_Del | A | - | p.Q9fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_99314 exon_skip_99308 | 21148519 | 21148614 | 21148532 | 21148532 | Frame_Shift_Del | A | - | p.Q12fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_99314 exon_skip_99308 | 21148519 | 21148614 | 21148532 | 21148532 | Frame_Shift_Del | A | - | p.Q12fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_99317 | 21173590 | 21173704 | 21173660 | 21173660 | Frame_Shift_Del | C | - | p.Y265fs |
| COAD | TCGA-AA-3663-01 | exon_skip_99333 | 21205155 | 21205241 | 21205180 | 21205180 | Frame_Shift_Del | A | - | p.E442fs |
| HNSC | TCGA-QK-A6VB-01 | exon_skip_99333 | 21205155 | 21205241 | 21205180 | 21205180 | Frame_Shift_Del | A | - | p.E451fs |
| KIRC | TCGA-B0-5098-01 | exon_skip_99333 | 21205155 | 21205241 | 21205180 | 21205180 | Frame_Shift_Del | A | - | p.E451fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_99338 | 21212471 | 21212657 | 21212555 | 21212555 | Frame_Shift_Del | G | - | p.G500fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_99344 | 21230504 | 21230569 | 21230567 | 21230567 | Frame_Shift_Del | A | - | p.E698fs |
| LIHC | TCGA-BC-A110-01 | exon_skip_99343 | 21218982 | 21219097 | 21219024 | 21219025 | Frame_Shift_Ins | - | T | p.L635fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_99354 | 21245112 | 21245178 | 21245138 | 21245139 | Frame_Shift_Ins | - | G | p.S734fs |
| THYM | TCGA-XU-A930-01 | exon_skip_99325 | 21199889 | 21199988 | 21199923 | 21199923 | Nonsense_Mutation | G | T | p.E421X |
| UCEC | TCGA-AP-A051-01 | exon_skip_99350 | 21237637 | 21237743 | 21237729 | 21237729 | Nonsense_Mutation | G | T | p.E730* |
| COAD | TCGA-D5-6928-01 | exon_skip_99321 | 21189932 | 21190018 | 21190019 | 21190019 | 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-D5-6928-01 |
| Cancer type: COAD | |
| ESID: exon_skip_99321 | |
| Skipped exon start: 21189932 | |
| Skipped exon end: 21190018 | |
| Mutation start: 21190019 | |
| Mutation end: 21190019 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_303809_COAD_TCGA-D5-6928-01.png | |
exon_skip_345643_COAD_TCGA-D5-6928-01.png | |
exon_skip_376457_COAD_TCGA-D5-6928-01.png | |
exon_skip_458514_COAD_TCGA-D5-6928-01.png | |
exon_skip_49506_COAD_TCGA-D5-6928-01.png | |
exon_skip_55351_COAD_TCGA-D5-6928-01.png | |
exon_skip_99321_COAD_TCGA-D5-6928-01.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 |
| EN_ENDOMETRIUM | 21166474 | 21166543 | 21166532 | 21166533 | Frame_Shift_Ins | - | A | p.K139fs |
| RMUGS_OVARY | 21205155 | 21205241 | 21205179 | 21205180 | Frame_Shift_Ins | - | A | p.E451fs |
| CW2_LARGE_INTESTINE | 21205155 | 21205241 | 21205179 | 21205180 | Frame_Shift_Ins | - | A | p.E451fs |
| NCIH1734_LUNG | 21148519 | 21148614 | 21148534 | 21148534 | Missense_Mutation | A | T | p.N13Y |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21163950 | 21164006 | 21163972 | 21163972 | Missense_Mutation | C | T | p.T68M |
| MUGCHOR1_BONE | 21166474 | 21166543 | 21166487 | 21166487 | Missense_Mutation | C | A | p.D123E |
| EW22_BONE | 21166474 | 21166543 | 21166516 | 21166516 | Missense_Mutation | C | G | p.S133C |
| SNU1040_LARGE_INTESTINE | 21166474 | 21166543 | 21166534 | 21166534 | Missense_Mutation | A | T | p.K139I |
| PATU8902_PANCREAS | 21173590 | 21173704 | 21173607 | 21173607 | Missense_Mutation | A | G | p.M248V |
| HEC251_ENDOMETRIUM | 21189932 | 21190018 | 21190015 | 21190015 | Missense_Mutation | A | C | p.D408A |
| HEC59_ENDOMETRIUM | 21199889 | 21199988 | 21199893 | 21199893 | Missense_Mutation | G | A | p.V411M |
| MDAMB453_BREAST | 21205155 | 21205241 | 21205173 | 21205173 | Missense_Mutation | G | C | p.V449L |
| EGI1_BILIARY_TRACT | 21205155 | 21205241 | 21205195 | 21205195 | Missense_Mutation | G | C | p.R456T |
| HEC251_ENDOMETRIUM | 21212471 | 21212657 | 21212476 | 21212476 | Missense_Mutation | G | T | p.K473N |
| GP2D_LARGE_INTESTINE | 21212471 | 21212657 | 21212496 | 21212496 | Missense_Mutation | G | A | p.S480N |
| GP5D_LARGE_INTESTINE | 21212471 | 21212657 | 21212496 | 21212496 | Missense_Mutation | G | A | p.S480N |
| SNU5_STOMACH | 21212471 | 21212657 | 21212513 | 21212513 | Missense_Mutation | G | T | p.V486L |
| M14_SKIN | 21230504 | 21230569 | 21230554 | 21230554 | Missense_Mutation | C | T | p.P694S |
| OV90_OVARY | 21237637 | 21237743 | 21237654 | 21237654 | Missense_Mutation | C | T | p.R705C |
| NCIH1299_LUNG | 21245112 | 21245178 | 21245137 | 21245137 | Missense_Mutation | G | T | p.S743I |
| OVCAR4_OVARY | 21245112 | 21245178 | 21245160 | 21245160 | Missense_Mutation | G | C | p.E751Q |
| OVCAR4_OVARY | 21245112 | 21245178 | 21245173 | 21245173 | Missense_Mutation | G | C | p.S755T |
| CHLA266_SOFT_TISSUE | 21245112 | 21245178 | 21245176 | 21245176 | Missense_Mutation | G | A | p.G756D |
| A2780_OVARY | 21264844 | 21264954 | 21264876 | 21264876 | Missense_Mutation | G | T | p.G768C |
| NBSUSSR_AUTONOMIC_GANGLIA | 21264844 | 21264954 | 21264948 | 21264948 | Missense_Mutation | G | A | p.E792K |
| HUTU80_SMALL_INTESTINE | 21264844 | 21264954 | 21264882 | 21264882 | Nonsense_Mutation | C | T | p.R770* |
| TUHR10TKB_KIDNEY | 21212471 | 21212657 | 21212471 | 21212471 | Splice_Site | G | A | p.G472R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IFT88 |
| 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 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | BLCA | rs2442455 | chr13:21189941 | G/A | 7.29e-06 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | ESCA | rs2442455 | chr13:21189941 | G/A | 2.43e-04 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | BRCA | rs2442455 | chr13:21189941 | G/A | 5.05e-21 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | KIRP | rs2442455 | chr13:21189941 | G/A | 1.70e-09 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | LGG | rs2442455 | chr13:21189941 | G/A | 6.54e-31 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | KIRC | rs2442455 | chr13:21189941 | G/A | 1.76e-09 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | LUAD | rs2442455 | chr13:21189941 | G/A | 1.20e-06 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | LIHC | rs2442455 | chr13:21189941 | G/A | 6.88e-04 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | LUSC | rs2442455 | chr13:21189941 | G/A | 5.69e-06 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | PCPG | rs2442455 | chr13:21189941 | G/A | 5.96e-07 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | PRAD | rs2442455 | chr13:21189941 | G/A | 3.88e-13 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | SARC | rs2442455 | chr13:21189941 | G/A | 2.06e-06 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | THYM | rs2442455 | chr13:21189941 | G/A | 1.32e-07 |
| exon_skip_99321 | 13 | 21179194:21179244:21189931:21190018:21199888:21199988 | 21189931:21190018 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | THCA | rs2442455 | chr13:21189941 | G/A | 2.22e-27 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | GBM | rs17055251 | chr13:21237413 | G/A | 5.30e-06 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | CESC | rs17055251 | chr13:21237413 | G/A | 8.49e-04 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | BLCA | rs17055251 | chr13:21237413 | G/A | 4.90e-06 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | ESCA | rs17055251 | chr13:21237413 | G/A | 1.85e-07 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | KIRP | rs17055251 | chr13:21237413 | G/A | 4.49e-13 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | LGG | rs17055251 | chr13:21237413 | G/A | 1.36e-46 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | KIRC | rs17055251 | chr13:21237413 | G/A | 1.76e-17 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | LUAD | rs17055251 | chr13:21237413 | G/A | 2.95e-08 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | MESO | rs17055251 | chr13:21237413 | G/A | 1.15e-04 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | LIHC | rs17055251 | chr13:21237413 | G/A | 2.35e-05 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | LUSC | rs17055251 | chr13:21237413 | G/A | 1.07e-08 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | PCPG | rs17055251 | chr13:21237413 | G/A | 3.04e-09 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | PRAD | rs17055251 | chr13:21237413 | G/A | 5.33e-17 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | SARC | rs17055251 | chr13:21237413 | G/A | 3.52e-09 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | THYM | rs17055251 | chr13:21237413 | G/A | 4.91e-11 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | TGCT | rs17055251 | chr13:21237413 | G/A | 8.59e-04 |
| exon_skip_99347 | 13 | 21230503:21230569:21237401:21237525:21237636:21237743 | 21237401:21237525 | ENST00000382778.4,ENST00000482172.1 | THCA | rs17055251 | chr13:21237413 | G/A | 6.56e-40 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | GBM | rs9509307 | chr13:21205192 | G/A | 6.51e-04 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | ESCA | rs9509307 | chr13:21205192 | G/A | 2.04e-06 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | BRCA | rs9509307 | chr13:21205192 | G/A | 6.38e-18 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | KIRP | rs9509307 | chr13:21205192 | G/A | 4.71e-07 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | LGG | rs9509307 | chr13:21205192 | G/A | 2.60e-20 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | KIRC | rs9509307 | chr13:21205192 | G/A | 1.56e-07 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | LUAD | rs9509307 | chr13:21205192 | G/A | 1.65e-05 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | LUSC | rs9509307 | chr13:21205192 | G/A | 2.10e-03 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | PCPG | rs9509307 | chr13:21205192 | G/A | 1.80e-08 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | PRAD | rs9509307 | chr13:21205192 | G/A | 4.13e-10 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | SARC | rs9509307 | chr13:21205192 | G/A | 2.58e-06 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | THYM | rs9509307 | chr13:21205192 | G/A | 1.23e-08 |
| exon_skip_99333 | 13 | 21199888:21199988:21205154:21205241:21212470:21212657 | 21205154:21205241 | ENST00000351808.5,ENST00000319980.6,ENST00000537103.1,ENST00000382778.4 | THCA | rs9509307 | chr13:21205192 | G/A | 6.13e-22 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IFT88 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IFT88 |
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RelatedDrugs for IFT88 |
| 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 IFT88 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| IFT88 | C0085548 | Autosomal Recessive Polycystic Kidney Disease | 2 | CTD_human |
| IFT88 | C0023903 | Liver neoplasms | 1 | CTD_human |
| IFT88 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| IFT88 | C0152427 | Polydactyly | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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