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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 IFT122 |
 Gene summary |
| Gene information | Gene symbol | IFT122 | Gene ID | 55764 |
| Gene name | intraflagellar transport 122 | |
| Synonyms | CED|CED1|SPG|WDR10|WDR10p|WDR140 | |
| Cytomap | 3q21.3-q22.1 | |
| Type of gene | protein-coding | |
| Description | intraflagellar transport protein 122 homologWD repeat domain 10WD repeat-containing protein 10WD repeat-containing protein 140intraflagellar transport 122 homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q9HBG6 | |
| Context | PubMed: IFT122 [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 IFT122 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 IFT122 |
| 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 IFT122 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_377521 | 3 | 129168713:129168780:129170756:129170841:129177441:129177520 | 129170756:129170841 | ENSG00000163913.7 | ENST00000510524.1,ENST00000296266.3,ENST00000507564.1,ENST00000506507.1,ENST00000347300.2,ENST00000512157.1,ENST00000348417.2 |
| exon_skip_377522 | 3 | 129168713:129168780:129170756:129170841:129182402:129182465 | 129170756:129170841 | ENSG00000163913.7 | ENST00000515783.1,ENST00000349441.2 |
| exon_skip_377525 | 3 | 129170756:129170841:129174956:129175107:129177441:129177520 | 129174956:129175107 | ENSG00000163913.7 | ENST00000431818.2,ENST00000512220.1,ENST00000502456.1 |
| exon_skip_377526 | 3 | 129170756:129170841:129176764:129176858:129177441:129177520 | 129176764:129176858 | ENSG00000163913.7 | ENST00000502304.1 |
| exon_skip_377527 | 3 | 129170756:129170841:129177441:129177520:129180070:129180120 | 129177441:129177520 | ENSG00000163913.7 | ENST00000506507.1,ENST00000347300.2,ENST00000512157.1,ENST00000348417.2 |
| exon_skip_377529 | 3 | 129170756:129170841:129180070:129180147:129182402:129182465 | 129180070:129180147 | ENSG00000163913.7 | ENST00000440957.2,ENST00000514275.1 |
| exon_skip_377531 | 3 | 129170756:129170841:129182402:129182469:129188184:129188260 | 129182402:129182469 | ENSG00000163913.7 | ENST00000515783.1 |
| exon_skip_377534 | 3 | 129177441:129177520:129178157:129178294:129180070:129180120 | 129178157:129178294 | ENSG00000163913.7 | ENST00000510524.1 |
| exon_skip_377536 | 3 | 129177441:129177520:129179696:129179849:129180070:129180120 | 129179696:129179849 | ENSG00000163913.7 | ENST00000296266.3,ENST00000507564.1 |
| exon_skip_377538 | 3 | 129177441:129177520:129180070:129180147:129182402:129182465 | 129180070:129180147 | ENSG00000163913.7 | ENST00000431818.2,ENST00000512220.1,ENST00000502304.1,ENST00000506507.1,ENST00000509195.1,ENST00000347300.2,ENST00000512157.1,ENST00000348417.2 |
| exon_skip_377539 | 3 | 129182402:129182469:129183477:129183624:129188184:129188260 | 129183477:129183624 | ENSG00000163913.7 | ENST00000511498.1,ENST00000507564.1,ENST00000506507.1,ENST00000347300.2,ENST00000504021.1,ENST00000440957.2,ENST00000349441.2 |
| exon_skip_377540 | 3 | 129183477:129183624:129185732:129185909:129188184:129188260 | 129185732:129185909 | ENSG00000163913.7 | ENST00000431818.2,ENST00000512220.1,ENST00000296266.3,ENST00000348417.2 |
| exon_skip_377544 | 3 | 129195505:129195644:129196858:129197061:129198627:129198760 | 129196858:129197061 | ENSG00000163913.7 | ENST00000431818.2,ENST00000512220.1,ENST00000296266.3,ENST00000507564.1,ENST00000506507.1,ENST00000347300.2,ENST00000504021.1,ENST00000515783.1,ENST00000440957.2,ENST00000348417.2,ENST00000349441.2 |
| exon_skip_377545 | 3 | 129196858:129197061:129198627:129198765:129200372:129200537 | 129198627:129198765 | ENSG00000163913.7 | ENST00000431818.2,ENST00000512220.1,ENST00000296266.3,ENST00000507564.1,ENST00000506507.1,ENST00000347300.2,ENST00000504021.1,ENST00000440957.2,ENST00000348417.2,ENST00000349441.2 |
| exon_skip_377546 | 3 | 129202327:129202525:129207099:129207240:129214288:129214330 | 129207099:129207240 | ENSG00000163913.7 | ENST00000512814.1,ENST00000504021.1,ENST00000509522.1 |
| exon_skip_377547 | 3 | 129207099:129207240:129210983:129211037:129214288:129214330 | 129210983:129211037 | ENSG00000163913.7 | ENST00000431818.2,ENST00000512220.1,ENST00000296266.3,ENST00000507564.1,ENST00000506507.1,ENST00000347300.2,ENST00000440957.2,ENST00000348417.2,ENST00000349441.2 |
| exon_skip_377549 | 3 | 129207099:129207240:129210983:129211037:129218744:129218911 | 129210983:129211037 | ENSG00000163913.7 | ENST00000511425.1 |
| exon_skip_377550 | 3 | 129207099:129207240:129214288:129214450:129218744:129218911 | 129214288:129214450 | ENSG00000163913.7 | ENST00000504021.1,ENST00000509522.1,ENST00000507221.1 |
| exon_skip_377552 | 3 | 129210983:129211037:129214288:129214450:129218744:129218911 | 129214288:129214450 | ENSG00000163913.7 | ENST00000431818.2,ENST00000512220.1,ENST00000296266.3,ENST00000507564.1,ENST00000506507.1,ENST00000347300.2,ENST00000440957.2,ENST00000348417.2,ENST00000349441.2 |
| exon_skip_377556 | 3 | 129221553:129221725:129223161:129223264:129225251:129225392 | 129223161:129223264 | ENSG00000163913.7 | ENST00000431818.2,ENST00000511425.1,ENST00000512220.1,ENST00000296266.3,ENST00000507564.1,ENST00000506507.1,ENST00000347300.2,ENST00000504021.1,ENST00000440957.2,ENST00000348417.2,ENST00000349441.2 |
| exon_skip_377560 | 3 | 129225251:129225392:129226507:129226605:129231154:129231255 | 129226507:129226605 | ENSG00000163913.7 | ENST00000507564.1,ENST00000504021.1,ENST00000349441.2 |
| exon_skip_377561 | 3 | 129225251:129225392:129226510:129226605:129231154:129231255 | 129226510:129226605 | ENSG00000163913.7 | ENST00000431818.2,ENST00000511425.1,ENST00000512220.1,ENST00000296266.3,ENST00000506507.1,ENST00000347300.2,ENST00000440957.2,ENST00000348417.2 |
| exon_skip_377577 | 3 | 129233231:129233397:129234330:129234442:129236311:129236437 | 129234330:129234442 | ENSG00000163913.7 | ENST00000431818.2,ENST00000511425.1,ENST00000512220.1,ENST00000296266.3,ENST00000513190.1,ENST00000507564.1,ENST00000347300.2,ENST00000504021.1,ENST00000440957.2,ENST00000348417.2,ENST00000349441.2 |
| exon_skip_377580 | 3 | 129237949:129238029:129238410:129238575:129239018:129239108 | 129238410:129238575 | ENSG00000163913.7 | ENST00000431818.2,ENST00000511425.1,ENST00000512220.1,ENST00000296266.3,ENST00000513190.1,ENST00000507564.1,ENST00000506507.1,ENST00000347300.2,ENST00000504021.1,ENST00000440957.2,ENST00000348417.2,ENST00000349441.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IFT122 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_377521 | 3 | 129168713:129168780:129170756:129170841:129177441:129177520 | 129170756:129170841 | ENSG00000163913.7 | ENST00000347300.2,ENST00000296266.3,ENST00000507564.1,ENST00000348417.2,ENST00000506507.1,ENST00000510524.1,ENST00000512157.1 |
| exon_skip_377522 | 3 | 129168713:129168780:129170756:129170841:129182402:129182465 | 129170756:129170841 | ENSG00000163913.7 | ENST00000349441.2,ENST00000515783.1 |
| exon_skip_377525 | 3 | 129170756:129170841:129174956:129175107:129177441:129177520 | 129174956:129175107 | ENSG00000163913.7 | ENST00000512220.1,ENST00000431818.2,ENST00000502456.1 |
| exon_skip_377526 | 3 | 129170756:129170841:129176764:129176858:129177441:129177520 | 129176764:129176858 | ENSG00000163913.7 | ENST00000502304.1 |
| exon_skip_377527 | 3 | 129170756:129170841:129177441:129177520:129180070:129180120 | 129177441:129177520 | ENSG00000163913.7 | ENST00000347300.2,ENST00000348417.2,ENST00000506507.1,ENST00000512157.1 |
| exon_skip_377529 | 3 | 129170756:129170841:129180070:129180147:129182402:129182465 | 129180070:129180147 | ENSG00000163913.7 | ENST00000440957.2,ENST00000514275.1 |
| exon_skip_377531 | 3 | 129170756:129170841:129182402:129182469:129188184:129188260 | 129182402:129182469 | ENSG00000163913.7 | ENST00000515783.1 |
| exon_skip_377532 | 3 | 129170756:129170841:129188184:129188260:129195157:129195258 | 129188184:129188260 | ENSG00000163913.7 | ENST00000509815.1 |
| exon_skip_377534 | 3 | 129177441:129177520:129178157:129178294:129180070:129180120 | 129178157:129178294 | ENSG00000163913.7 | ENST00000510524.1 |
| exon_skip_377536 | 3 | 129177441:129177520:129179696:129179849:129180070:129180120 | 129179696:129179849 | ENSG00000163913.7 | ENST00000296266.3,ENST00000507564.1 |
| exon_skip_377538 | 3 | 129177441:129177520:129180070:129180147:129182402:129182465 | 129180070:129180147 | ENSG00000163913.7 | ENST00000347300.2,ENST00000512220.1,ENST00000431818.2,ENST00000348417.2,ENST00000506507.1,ENST00000502304.1,ENST00000509195.1,ENST00000512157.1 |
| exon_skip_377539 | 3 | 129182402:129182469:129183477:129183624:129188184:129188260 | 129183477:129183624 | ENSG00000163913.7 | ENST00000347300.2,ENST00000507564.1,ENST00000504021.1,ENST00000349441.2,ENST00000440957.2,ENST00000506507.1,ENST00000511498.1 |
| exon_skip_377540 | 3 | 129183477:129183624:129185732:129185909:129188184:129188260 | 129185732:129185909 | ENSG00000163913.7 | ENST00000296266.3,ENST00000512220.1,ENST00000431818.2,ENST00000348417.2 |
| exon_skip_377544 | 3 | 129195505:129195644:129196858:129197061:129198627:129198760 | 129196858:129197061 | ENSG00000163913.7 | ENST00000347300.2,ENST00000296266.3,ENST00000507564.1,ENST00000512220.1,ENST00000431818.2,ENST00000504021.1,ENST00000349441.2,ENST00000348417.2,ENST00000440957.2,ENST00000506507.1,ENST00000515783.1 |
| exon_skip_377545 | 3 | 129196858:129197061:129198627:129198765:129200372:129200537 | 129198627:129198765 | ENSG00000163913.7 | ENST00000347300.2,ENST00000296266.3,ENST00000507564.1,ENST00000512220.1,ENST00000431818.2,ENST00000504021.1,ENST00000349441.2,ENST00000348417.2,ENST00000440957.2,ENST00000506507.1 |
| exon_skip_377546 | 3 | 129202327:129202525:129207099:129207240:129214288:129214330 | 129207099:129207240 | ENSG00000163913.7 | ENST00000504021.1,ENST00000509522.1,ENST00000512814.1 |
| exon_skip_377547 | 3 | 129207099:129207240:129210983:129211037:129214288:129214330 | 129210983:129211037 | ENSG00000163913.7 | ENST00000347300.2,ENST00000296266.3,ENST00000507564.1,ENST00000512220.1,ENST00000431818.2,ENST00000349441.2,ENST00000348417.2,ENST00000440957.2,ENST00000506507.1 |
| exon_skip_377549 | 3 | 129207099:129207240:129210983:129211037:129218744:129218911 | 129210983:129211037 | ENSG00000163913.7 | ENST00000511425.1 |
| exon_skip_377550 | 3 | 129207099:129207240:129214288:129214450:129218744:129218911 | 129214288:129214450 | ENSG00000163913.7 | ENST00000504021.1,ENST00000509522.1,ENST00000507221.1 |
| exon_skip_377552 | 3 | 129210983:129211037:129214288:129214450:129218744:129218911 | 129214288:129214450 | ENSG00000163913.7 | ENST00000347300.2,ENST00000296266.3,ENST00000507564.1,ENST00000512220.1,ENST00000431818.2,ENST00000349441.2,ENST00000348417.2,ENST00000440957.2,ENST00000506507.1 |
| exon_skip_377556 | 3 | 129221553:129221725:129223161:129223264:129225251:129225392 | 129223161:129223264 | ENSG00000163913.7 | ENST00000347300.2,ENST00000296266.3,ENST00000507564.1,ENST00000512220.1,ENST00000431818.2,ENST00000504021.1,ENST00000349441.2,ENST00000348417.2,ENST00000440957.2,ENST00000506507.1,ENST00000511425.1 |
| exon_skip_377560 | 3 | 129225251:129225392:129226507:129226605:129231154:129231255 | 129226507:129226605 | ENSG00000163913.7 | ENST00000507564.1,ENST00000504021.1,ENST00000349441.2 |
| exon_skip_377561 | 3 | 129225251:129225392:129226510:129226605:129231154:129231255 | 129226510:129226605 | ENSG00000163913.7 | ENST00000347300.2,ENST00000296266.3,ENST00000512220.1,ENST00000431818.2,ENST00000348417.2,ENST00000440957.2,ENST00000506507.1,ENST00000511425.1 |
| exon_skip_377577 | 3 | 129233231:129233397:129234330:129234442:129236311:129236437 | 129234330:129234442 | ENSG00000163913.7 | ENST00000347300.2,ENST00000296266.3,ENST00000507564.1,ENST00000512220.1,ENST00000431818.2,ENST00000504021.1,ENST00000349441.2,ENST00000348417.2,ENST00000440957.2,ENST00000511425.1,ENST00000513190.1 |
| exon_skip_377580 | 3 | 129237949:129238029:129238410:129238575:129239018:129239108 | 129238410:129238575 | ENSG00000163913.7 | ENST00000347300.2,ENST00000296266.3,ENST00000507564.1,ENST00000512220.1,ENST00000431818.2,ENST00000504021.1,ENST00000349441.2,ENST00000348417.2,ENST00000440957.2,ENST00000506507.1,ENST00000511425.1,ENST00000513190.1 |
| 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 IFT122 |
| 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 |
| ENST00000348417 | 129170756 | 129170841 | Frame-shift |
| ENST00000348417 | 129177441 | 129177520 | Frame-shift |
| ENST00000348417 | 129180070 | 129180147 | Frame-shift |
| ENST00000348417 | 129196858 | 129197061 | Frame-shift |
| ENST00000348417 | 129223161 | 129223264 | Frame-shift |
| ENST00000348417 | 129226510 | 129226605 | Frame-shift |
| ENST00000348417 | 129234330 | 129234442 | Frame-shift |
| ENST00000348417 | 129185732 | 129185909 | In-frame |
| ENST00000348417 | 129198627 | 129198765 | In-frame |
| ENST00000348417 | 129210983 | 129211037 | In-frame |
| ENST00000348417 | 129214288 | 129214450 | In-frame |
| ENST00000348417 | 129238410 | 129238575 | 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 |
| ENST00000348417 | 129170756 | 129170841 | Frame-shift |
| ENST00000348417 | 129177441 | 129177520 | Frame-shift |
| ENST00000348417 | 129180070 | 129180147 | Frame-shift |
| ENST00000348417 | 129196858 | 129197061 | Frame-shift |
| ENST00000348417 | 129223161 | 129223264 | Frame-shift |
| ENST00000348417 | 129226510 | 129226605 | Frame-shift |
| ENST00000348417 | 129234330 | 129234442 | Frame-shift |
| ENST00000348417 | 129185732 | 129185909 | In-frame |
| ENST00000348417 | 129198627 | 129198765 | In-frame |
| ENST00000348417 | 129210983 | 129211037 | In-frame |
| ENST00000348417 | 129214288 | 129214450 | In-frame |
| ENST00000348417 | 129238410 | 129238575 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IFT122 |
| 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 |
| ENST00000348417 | 3894 | 1241 | 129185732 | 129185909 | 641 | 817 | 188 | 246 |
| ENST00000348417 | 3894 | 1241 | 129198627 | 129198765 | 1428 | 1565 | 450 | 496 |
| ENST00000348417 | 3894 | 1241 | 129210983 | 129211037 | 2070 | 2123 | 664 | 682 |
| ENST00000348417 | 3894 | 1241 | 129214288 | 129214450 | 2124 | 2285 | 682 | 736 |
| ENST00000348417 | 3894 | 1241 | 129238410 | 129238575 | 3549 | 3713 | 1157 | 1212 |
| 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 |
| ENST00000348417 | 3894 | 1241 | 129185732 | 129185909 | 641 | 817 | 188 | 246 |
| ENST00000348417 | 3894 | 1241 | 129198627 | 129198765 | 1428 | 1565 | 450 | 496 |
| ENST00000348417 | 3894 | 1241 | 129210983 | 129211037 | 2070 | 2123 | 664 | 682 |
| ENST00000348417 | 3894 | 1241 | 129214288 | 129214450 | 2124 | 2285 | 682 | 736 |
| ENST00000348417 | 3894 | 1241 | 129238410 | 129238575 | 3549 | 3713 | 1157 | 1212 |
| 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 IFT122 |
| - 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. |
IFT122_PRAD_exon_skip_377540_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-A3A0-01 | exon_skip_377536 | 129179697 | 129179849 | 129179752 | 129179752 | Frame_Shift_Del | A | - | p.K110fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_377536 | 129179697 | 129179849 | 129179752 | 129179752 | Frame_Shift_Del | A | - | p.K110fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_377539 | 129183478 | 129183624 | 129183577 | 129183577 | Frame_Shift_Del | G | - | p.P223fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_377545 | 129198628 | 129198765 | 129198747 | 129198747 | Frame_Shift_Del | G | - | p.V541fs |
| BRCA | TCGA-A2-A0SU-01 | 129207100 | 129207240 | 129207141 | 129207141 | Frame_Shift_Del | G | - | p.E683fs | |
| UCS | TCGA-N7-A4Y0-01 | 129207100 | 129207240 | 129207227 | 129207227 | Frame_Shift_Del | A | - | p.E711fs | |
| KIRP | TCGA-MH-A55W-01 | exon_skip_377550 exon_skip_377552 | 129214289 | 129214450 | 129214436 | 129214436 | Frame_Shift_Del | T | - | p.F783fs |
| KIRP | TCGA-MH-A55W-01 | exon_skip_377550 exon_skip_377552 | 129214289 | 129214450 | 129214436 | 129214436 | Frame_Shift_Del | T | - | p.M620fs |
| KIRP | TCGA-MH-A55W-01 | exon_skip_377550 exon_skip_377552 | 129214289 | 129214450 | 129214436 | 129214436 | Frame_Shift_Del | T | - | p.M782fs |
| UCEC | TCGA-AP-A059-01 | exon_skip_377561 exon_skip_377560 | 129226508 | 129226605 | 129226560 | 129226560 | Frame_Shift_Del | T | - | p.L999fs |
| UCEC | TCGA-AP-A059-01 | exon_skip_377561 exon_skip_377560 | 129226511 | 129226605 | 129226560 | 129226560 | Frame_Shift_Del | T | - | p.L999fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_377539 | 129183478 | 129183624 | 129183556 | 129183557 | Frame_Shift_Ins | - | A | p.S217fs |
| STAD | TCGA-FP-A4BE-01 | exon_skip_377539 | 129183478 | 129183624 | 129183576 | 129183577 | Frame_Shift_Ins | - | G | p.P223fs |
| STAD | TCGA-FP-A4BE-01 | exon_skip_377539 | 129183478 | 129183624 | 129183577 | 129183578 | Frame_Shift_Ins | - | G | p.P223fs |
| BRCA | TCGA-A8-A07E-01 | exon_skip_377529 exon_skip_377538 | 129180071 | 129180147 | 129180117 | 129180117 | Nonsense_Mutation | C | T | p.Q158* |
| HNSC | TCGA-CV-7438-01 | exon_skip_377529 exon_skip_377538 | 129180071 | 129180147 | 129180117 | 129180117 | Nonsense_Mutation | C | T | p.Q107* |
| HNSC | TCGA-CV-7438-01 | exon_skip_377529 exon_skip_377538 | 129180071 | 129180147 | 129180117 | 129180117 | Nonsense_Mutation | C | T | p.Q158* |
| HNSC | TCGA-CV-7261-01 | exon_skip_377531 | 129182403 | 129182469 | 129182445 | 129182445 | Nonsense_Mutation | C | G | p.S131* |
| HNSC | TCGA-CV-7261-01 | exon_skip_377531 | 129182403 | 129182469 | 129182445 | 129182445 | Nonsense_Mutation | C | G | p.S182* |
| PRAD | TCGA-HC-A76W-01 | exon_skip_377540 | 129185733 | 129185909 | 129185799 | 129185799 | Nonsense_Mutation | T | G | p.Y261* |
| BLCA | TCGA-GU-AATQ-01 | exon_skip_377544 | 129196859 | 129197061 | 129196909 | 129196909 | Nonsense_Mutation | C | T | p.R451* |
| LUAD | TCGA-44-8120-01 | exon_skip_377544 | 129196859 | 129197061 | 129196948 | 129196948 | Nonsense_Mutation | G | T | p.E464* |
| STAD | TCGA-CG-4305-01 | exon_skip_377549 exon_skip_377547 | 129210984 | 129211037 | 129211008 | 129211008 | Nonsense_Mutation | C | T | p.R673* |
| THYM | TCGA-ZB-A96H-01 | exon_skip_377550 exon_skip_377552 | 129214289 | 129214450 | 129214364 | 129214364 | Nonsense_Mutation | G | T | p.E759X |
| LUSC | TCGA-18-5595-01 | exon_skip_377561 exon_skip_377560 | 129226508 | 129226605 | 129226555 | 129226555 | Nonsense_Mutation | C | T | p.Q997* |
| LUSC | TCGA-18-5595-01 | exon_skip_377561 exon_skip_377560 | 129226511 | 129226605 | 129226555 | 129226555 | Nonsense_Mutation | C | T | p.Q997* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-HC-A76W-01 |
| Cancer type: PRAD | |
| ESID: exon_skip_377540 | |
| Skipped exon start: 129185733 | |
| Skipped exon end: 129185909 | |
| Mutation start: 129185799 | |
| Mutation end: 129185799 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: T | |
| Mutation seq: G | |
| AAchange: p.Y261* | |
exon_skip_377540_PRAD_TCGA-HC-A76W-01.png | |
 | Sample: TCGA-A8-A07E-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_377538 | |
| Skipped exon start: 129180071 | |
| Skipped exon end: 129180147 | |
| Mutation start: 129180117 | |
| Mutation end: 129180117 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q158* | |
exon_skip_377529_BRCA_TCGA-A8-A07E-01.png | |
 | Sample: TCGA-CV-7438-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_377538 | |
| Skipped exon start: 129180071 | |
| Skipped exon end: 129180147 | |
| Mutation start: 129180117 | |
| Mutation end: 129180117 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q158* | |
| Sample: TCGA-CV-7438-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_377538 | |
| Skipped exon start: 129180071 | |
| Skipped exon end: 129180147 | |
| Mutation start: 129180117 | |
| Mutation end: 129180117 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q107* | |
exon_skip_377529_HNSC_TCGA-CV-7438-01.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 |
| HEC151_ENDOMETRIUM | 129183478 | 129183624 | 129183577 | 129183577 | Frame_Shift_Del | G | - | p.P172fs |
| NCIH1648_LUNG | 129207100 | 129207240 | 129207158 | 129207164 | Frame_Shift_Del | CTTGCTT | - | p.ACL637fs |
| NCIH1648_LUNG | 129207100 | 129207240 | 129207163 | 129207166 | Frame_Shift_Del | TTGG | - | p.LG639fs |
| NCIH1648_LUNG | 129207100 | 129207240 | 129207170 | 129207177 | Frame_Shift_Del | TCACAGAC | - | p.VTD641fs |
| NCIH1648_LUNG | 129207100 | 129207240 | 129207158 | 129207160 | In_Frame_Del | CTT | - | p.637_638AC>G |
| SIHA_CERVIX | 129177442 | 129177520 | 129177447 | 129177447 | Missense_Mutation | C | A | p.R67S |
| SNU1040_LARGE_INTESTINE | 129177442 | 129177520 | 129177475 | 129177475 | Missense_Mutation | G | A | p.S76N |
| HEC59_ENDOMETRIUM | 129180071 | 129180147 | 129180088 | 129180088 | Missense_Mutation | A | G | p.Q97R |
| 639V_URINARY_TRACT | 129182403 | 129182469 | 129182420 | 129182420 | Missense_Mutation | C | G | p.Q123E |
| LS411N_LARGE_INTESTINE | 129182403 | 129182469 | 129182422 | 129182422 | Missense_Mutation | G | T | p.Q123H |
| SKHEP1_LIVER | 129182403 | 129182469 | 129182451 | 129182451 | Missense_Mutation | G | A | p.S133N |
| KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129183478 | 129183624 | 129183518 | 129183518 | Missense_Mutation | A | C | p.N153H |
| OVTOKO_OVARY | 129183478 | 129183624 | 129183518 | 129183518 | Missense_Mutation | A | C | p.N153H |
| BHY_UPPER_AERODIGESTIVE_TRACT | 129183478 | 129183624 | 129183518 | 129183518 | Missense_Mutation | A | C | p.N153H |
| JHH1_LIVER | 129183478 | 129183624 | 129183591 | 129183591 | Missense_Mutation | C | T | p.S177L |
| SNU738_CENTRAL_NERVOUS_SYSTEM | 129185733 | 129185909 | 129185735 | 129185735 | Missense_Mutation | G | A | p.R189Q |
| MDAMB175VII_BREAST | 129196859 | 129197061 | 129196862 | 129196862 | Missense_Mutation | G | A | p.R384Q |
| HCC366_LUNG | 129196859 | 129197061 | 129196918 | 129196918 | Missense_Mutation | A | G | p.I403V |
| SNU81_LARGE_INTESTINE | 129196859 | 129197061 | 129196934 | 129196934 | Missense_Mutation | A | C | p.K408T |
| NCIH1417_LUNG | 129196859 | 129197061 | 129196960 | 129196960 | Missense_Mutation | G | A | p.E417K |
| DV90_LUNG | 129196859 | 129197061 | 129196992 | 129196992 | Missense_Mutation | G | T | p.K427N |
| PACADD165_PANCREAS | 129196859 | 129197061 | 129196999 | 129196999 | Missense_Mutation | A | T | p.I430F |
| JHUEM1_ENDOMETRIUM | 129198628 | 129198765 | 129198756 | 129198756 | Missense_Mutation | G | T | p.K493N |
| JAR_PLACENTA | 129207100 | 129207240 | 129207112 | 129207112 | Missense_Mutation | T | G | p.Y622D |
| OVMANA_OVARY | 129207100 | 129207240 | 129207127 | 129207127 | Missense_Mutation | A | T | p.R627W |
| HSC1_SKIN | 129207100 | 129207240 | 129207132 | 129207132 | Missense_Mutation | A | T | p.K628N |
| KMH2_THYROID | 129207100 | 129207240 | 129207132 | 129207132 | Missense_Mutation | A | T | p.K628N |
| NCIH446_LUNG | 129207100 | 129207240 | 129207215 | 129207215 | Missense_Mutation | G | A | p.G656D |
| RKO_LARGE_INTESTINE | 129207100 | 129207240 | 129207224 | 129207224 | Missense_Mutation | T | C | p.F659S |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129214289 | 129214450 | 129214347 | 129214347 | Missense_Mutation | A | G | p.Y702C |
| TT_THYROID | 129214289 | 129214450 | 129214362 | 129214362 | Missense_Mutation | A | T | p.H707L |
| COLO679_SKIN | 129214289 | 129214450 | 129214364 | 129214364 | Missense_Mutation | G | A | p.E708K |
| NCIH1437_LUNG | 129214289 | 129214450 | 129214386 | 129214386 | Missense_Mutation | G | C | p.R715T |
| HEC1A_ENDOMETRIUM | 129214289 | 129214450 | 129214407 | 129214407 | Missense_Mutation | C | T | p.A722V |
| UMCHOR1_BONE | 129214289 | 129214450 | 129214441 | 129214441 | Missense_Mutation | G | C | p.E733D |
| NCIH2722_PLEURA | 129223162 | 129223264 | 129223214 | 129223214 | Missense_Mutation | C | T | p.P867L |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129226511 | 129226605 | 129226558 | 129226558 | Missense_Mutation | C | T | p.R947C |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129226508 | 129226605 | 129226558 | 129226558 | Missense_Mutation | C | T | p.R947C |
| OVTOKO_OVARY | 129234331 | 129234442 | 129234341 | 129234341 | Missense_Mutation | C | T | p.P1055L |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129234331 | 129234442 | 129234352 | 129234352 | Missense_Mutation | C | T | p.R1059C |
| SNU81_LARGE_INTESTINE | 129234331 | 129234442 | 129234353 | 129234353 | Missense_Mutation | G | A | p.R1059H |
| NCIH1975_LUNG | 129234331 | 129234442 | 129234394 | 129234394 | Missense_Mutation | G | C | p.V1073L |
| HCT15_LARGE_INTESTINE | 129234331 | 129234442 | 129234410 | 129234410 | Missense_Mutation | G | A | p.R1078H |
| HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129234331 | 129234442 | 129234425 | 129234425 | Missense_Mutation | T | C | p.F1083S |
| OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129234331 | 129234442 | 129234426 | 129234426 | Missense_Mutation | C | G | p.F1083L |
| T3M4_PANCREAS | 129238411 | 129238575 | 129238471 | 129238471 | Missense_Mutation | C | T | p.R1178C |
| SKUT1_SOFT_TISSUE | 129238411 | 129238575 | 129238493 | 129238493 | Missense_Mutation | G | A | p.R1185Q |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129238411 | 129238575 | 129238501 | 129238501 | Missense_Mutation | C | T | p.P1188S |
| NCIH2135_LUNG | 129238411 | 129238575 | 129238572 | 129238572 | Missense_Mutation | C | G | p.F1211L |
| SNUC4_LARGE_INTESTINE | 129238411 | 129238575 | 129238497 | 129238497 | Nonsense_Mutation | G | A | p.W1186* |
| SNUC4_LARGE_INTESTINE | 129198628 | 129198765 | 129198765 | 129198765 | Splice_Site | G | A | p.Q496Q |
| LC1F_LUNG | 129207100 | 129207240 | 129207239 | 129207239 | Splice_Site | A | G | p.K664R |
| LC1SQSF_LUNG | 129207100 | 129207240 | 129207239 | 129207239 | Splice_Site | A | G | p.K664R |
| LC1SQ_LUNG | 129207100 | 129207240 | 129207239 | 129207239 | Splice_Site | A | G | p.K664R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IFT122 |
| 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 IFT122 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IFT122 |
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RelatedDrugs for IFT122 |
| 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 IFT122 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| IFT122 | C0008780 | Ciliary Motility Disorders | 1 | CTD_human |
| IFT122 | C0010278 | Craniosynostosis | 1 | CTD_human |
| IFT122 | C0013608 | Edema, Cardiac | 1 | CTD_human |
| IFT122 | C0015393 | Eye Abnormalities | 1 | CTD_human |
| IFT122 | C0020255 | Hydrocephalus | 1 | CTD_human |
| IFT122 | C0022658 | Kidney Diseases | 1 | CTD_human |
| IFT122 | C0037932 | Curvature of spine | 1 | CTD_human |
| IFT122 | C0432235 | Cranioectodermal Dysplasia | 1 | CTD_human;ORPHANET;UNIPROT |
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