ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TG

Gene summary

Gene information	Gene symbol	TG
	Gene ID	7038
	Gene name	thyroglobulin
	Synonyms	AITD3\|TGN
	Cytomap	8q24.22
	Type of gene	protein-coding
	Description	thyroglobulin
	Modification date	20180520
	UniProtAcc	P01266
	Context	PubMed: TG [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 TG 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 TG

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for TG

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_486072	8	133880359:133880468:133881973:133882071:133883592:133883734	133881973:133882071	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4
exon_skip_486077	8	133880359:133880499:133881973:133882071:133883592:133883796	133881973:133882071	ENSG00000042832.7	ENST00000523901.1
exon_skip_486078	8	133894713:133894857:133895058:133895244:133898692:133899527	133895058:133895244	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4
exon_skip_486080	8	133895058:133895244:133898692:133899793:133900228:133900813	133898692:133899793	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4
exon_skip_486087	8	133912485:133912584:133913597:133913798:133918932:133919145	133913597:133913798	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4
exon_skip_486090	8	133912485:133912584:133913666:133913798:133918932:133919145	133913666:133913798	ENSG00000042832.7	ENST00000518505.1
exon_skip_486095	8	133913666:133913798:133918932:133919145:133920430:133920585	133918932:133919145	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4
exon_skip_486114	8	133920430:133920585:133923621:133923778:133925291:133925480	133923621:133923778	ENSG00000042832.7	ENST00000377869.1,ENST00000523756.1,ENST00000220616.4
exon_skip_486121	8	133923678:133923778:133925291:133925510:133931620:133931770	133925291:133925510	ENSG00000042832.7	ENST00000377869.1,ENST00000523756.1,ENST00000220616.4
exon_skip_486123	8	133925291:133925510:133931620:133931770:133935582:133935753	133931620:133931770	ENSG00000042832.7	ENST00000523756.1,ENST00000220616.4
exon_skip_486124	8	133925293:133925510:133931620:133931770:133941320:133941437	133931620:133931770	ENSG00000042832.7	ENST00000377869.1
exon_skip_486129	8	133931684:133931770:133935582:133935753:133941320:133941437	133935582:133935753	ENSG00000042832.7	ENST00000542445.1,ENST00000523756.1,ENST00000220616.4,ENST00000519178.1
exon_skip_486164	8	133948000:133948109:133953595:133953787:133961020:133961122	133953595:133953787	ENSG00000042832.7	ENST00000377869.1,ENST00000523756.1,ENST00000220616.4
exon_skip_486169	8	133948000:133948109:133961020:133961188:133973252:133973318	133961020:133961188	ENSG00000042832.7	ENST00000542445.1,ENST00000519178.1
exon_skip_486172	8	133953688:133953787:133961020:133961188:133973252:133973318	133961020:133961188	ENSG00000042832.7	ENST00000377869.1,ENST00000523756.1,ENST00000220616.4
exon_skip_486173	8	133961151:133961188:133973252:133973318:133975238:133975319	133973252:133973318	ENSG00000042832.7	ENST00000542445.1,ENST00000377869.1,ENST00000523756.1,ENST00000220616.4,ENST00000519178.1
exon_skip_486186	8	133973252:133973318:133975238:133975319:133978804:133978942	133975238:133975319	ENSG00000042832.7	ENST00000542445.1,ENST00000377869.1,ENST00000523756.1,ENST00000220616.4,ENST00000519178.1
exon_skip_486194	8	133975238:133975319:133978804:133978942:133980038:133980142	133978804:133978942	ENSG00000042832.7	ENST00000542445.1,ENST00000377869.1,ENST00000523756.1,ENST00000220616.4,ENST00000519178.1
exon_skip_486198	8	133980122:133980215:133981702:133981814:133984038:133984118	133981702:133981814	ENSG00000042832.7	ENST00000542445.1,ENST00000377869.1,ENST00000519543.1,ENST00000523756.1,ENST00000220616.4,ENST00000519178.1
exon_skip_486211	8	133984876:133984986:133995594:133995657:134006960:134007049	133995594:133995657	ENSG00000042832.7	ENST00000522797.1,ENST00000519294.1
exon_skip_486214	8	133984876:133984986:133995594:133995657:134014017:134014106	133995594:133995657	ENSG00000042832.7	ENST00000524151.1
exon_skip_486216	8	133984876:133984986:133995594:133995657:134015224:134015288	133995594:133995657	ENSG00000042832.7	ENST00000520197.1
exon_skip_486221	8	133984876:133984986:133995594:133995657:134024145:134024280	133995594:133995657	ENSG00000042832.7	ENST00000542445.1,ENST00000377869.1,ENST00000523756.1,ENST00000522523.1,ENST00000220616.4,ENST00000519178.1
exon_skip_486377	8	133995594:133995657:134006960:134007049:134015224:134015288	134006960:134007049	ENSG00000042832.7	ENST00000519294.1
exon_skip_486382	8	133995594:133995657:134006960:134007049:134024145:134024280	134006960:134007049	ENSG00000042832.7	ENST00000522797.1
exon_skip_486406	8	133995594:133995657:134024145:134024280:134025844:134025928	134024145:134024280	ENSG00000042832.7	ENST00000542445.1,ENST00000377869.1,ENST00000523756.1,ENST00000522523.1,ENST00000220616.4,ENST00000519178.1
exon_skip_486473	8	134031846:134031940:134034235:134034395:134042065:134042224	134034235:134034395	ENSG00000042832.7	ENST00000542445.1,ENST00000377869.1,ENST00000519543.1,ENST00000523756.1,ENST00000220616.4,ENST00000518108.1,ENST00000519178.1
exon_skip_486478	8	134034235:134034395:134042065:134042268:134107287:134107452	134042065:134042268	ENSG00000042832.7	ENST00000542445.1,ENST00000377869.1,ENST00000519543.1,ENST00000523756.1,ENST00000220616.4,ENST00000519178.1
exon_skip_486517	8	134042065:134042268:134107287:134107452:134108449:134108617	134107287:134107452	ENSG00000042832.7	ENST00000542445.1,ENST00000377869.1,ENST00000519543.1,ENST00000523756.1,ENST00000220616.4,ENST00000519178.1
exon_skip_486529	8	134107402:134107452:134108449:134108617:134125665:134125740	134108449:134108617	ENSG00000042832.7	ENST00000522996.1,ENST00000542445.1,ENST00000377869.1,ENST00000519543.1,ENST00000523756.1,ENST00000522809.1,ENST00000220616.4,ENST00000519178.1
exon_skip_486575	8	134125834:134125847:134128852:134128960:134144055:134144190	134128852:134128960	ENSG00000042832.7	ENST00000542445.1,ENST00000377869.1,ENST00000519543.1,ENST00000523756.1,ENST00000220616.4,ENST00000519178.1
exon_skip_486576	8	134125834:134125847:134128852:134128960:134145713:134145904	134128852:134128960	ENSG00000042832.7	ENST00000521107.1
exon_skip_486610	8	134128852:134128960:134144055:134144190:134145713:134145822	134144055:134144190	ENSG00000042832.7	ENST00000542445.1,ENST00000377869.1,ENST00000519543.1,ENST00000523756.1,ENST00000220616.4,ENST00000519178.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TG

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_486072	8	133880359:133880468:133881973:133882071:133883592:133883734	133881973:133882071	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4
exon_skip_486077	8	133880359:133880499:133881973:133882071:133883592:133883796	133881973:133882071	ENSG00000042832.7	ENST00000523901.1
exon_skip_486078	8	133894713:133894857:133895058:133895244:133898692:133899527	133895058:133895244	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4
exon_skip_486080	8	133895058:133895244:133898692:133899793:133900228:133900813	133898692:133899793	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4
exon_skip_486087	8	133912485:133912584:133913597:133913798:133918932:133919145	133913597:133913798	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4
exon_skip_486090	8	133912485:133912584:133913666:133913798:133918932:133919145	133913666:133913798	ENSG00000042832.7	ENST00000518505.1
exon_skip_486095	8	133913666:133913798:133918932:133919145:133920430:133920585	133918932:133919145	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4
exon_skip_486114	8	133920430:133920585:133923621:133923778:133925291:133925480	133923621:133923778	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1
exon_skip_486121	8	133923678:133923778:133925291:133925510:133931620:133931770	133925291:133925510	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1
exon_skip_486123	8	133925291:133925510:133931620:133931770:133935582:133935753	133931620:133931770	ENSG00000042832.7	ENST00000220616.4,ENST00000523756.1
exon_skip_486124	8	133925293:133925510:133931620:133931770:133941320:133941437	133931620:133931770	ENSG00000042832.7	ENST00000377869.1
exon_skip_486129	8	133931684:133931770:133935582:133935753:133941320:133941437	133935582:133935753	ENSG00000042832.7	ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1
exon_skip_486164	8	133948000:133948109:133953595:133953787:133961020:133961122	133953595:133953787	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1
exon_skip_486169	8	133948000:133948109:133961020:133961188:133973252:133973318	133961020:133961188	ENSG00000042832.7	ENST00000519178.1,ENST00000542445.1
exon_skip_486172	8	133953688:133953787:133961020:133961188:133973252:133973318	133961020:133961188	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1
exon_skip_486173	8	133961151:133961188:133973252:133973318:133975238:133975319	133973252:133973318	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1
exon_skip_486186	8	133973252:133973318:133975238:133975319:133978804:133978942	133975238:133975319	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1
exon_skip_486194	8	133975238:133975319:133978804:133978942:133980038:133980142	133978804:133978942	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1
exon_skip_486198	8	133980122:133980215:133981702:133981814:133984038:133984118	133981702:133981814	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1,ENST00000519543.1
exon_skip_486211	8	133984876:133984986:133995594:133995657:134006960:134007049	133995594:133995657	ENSG00000042832.7	ENST00000519294.1,ENST00000522797.1
exon_skip_486214	8	133984876:133984986:133995594:133995657:134014017:134014106	133995594:133995657	ENSG00000042832.7	ENST00000524151.1
exon_skip_486216	8	133984876:133984986:133995594:133995657:134015224:134015288	133995594:133995657	ENSG00000042832.7	ENST00000520197.1
exon_skip_486221	8	133984876:133984986:133995594:133995657:134024145:134024280	133995594:133995657	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1,ENST00000522523.1
exon_skip_486377	8	133995594:133995657:134006960:134007049:134015224:134015288	134006960:134007049	ENSG00000042832.7	ENST00000519294.1
exon_skip_486382	8	133995594:133995657:134006960:134007049:134024145:134024280	134006960:134007049	ENSG00000042832.7	ENST00000522797.1
exon_skip_486406	8	133995594:133995657:134024145:134024280:134025844:134025928	134024145:134024280	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1,ENST00000522523.1
exon_skip_486473	8	134031846:134031940:134034235:134034395:134042065:134042224	134034235:134034395	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1,ENST00000519543.1,ENST00000518108.1
exon_skip_486478	8	134034235:134034395:134042065:134042268:134107287:134107452	134042065:134042268	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1,ENST00000519543.1
exon_skip_486517	8	134042065:134042268:134107287:134107452:134108449:134108617	134107287:134107452	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1,ENST00000519543.1
exon_skip_486529	8	134107402:134107452:134108449:134108617:134125665:134125740	134108449:134108617	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1,ENST00000519543.1,ENST00000522996.1,ENST00000522809.1
exon_skip_486575	8	134125834:134125847:134128852:134128960:134144055:134144190	134128852:134128960	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1,ENST00000519543.1
exon_skip_486576	8	134125834:134125847:134128852:134128960:134145713:134145904	134128852:134128960	ENSG00000042832.7	ENST00000521107.1
exon_skip_486610	8	134128852:134128960:134144055:134144190:134145713:134145822	134144055:134144190	ENSG00000042832.7	ENST00000377869.1,ENST00000220616.4,ENST00000523756.1,ENST00000519178.1,ENST00000542445.1,ENST00000519543.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for TG

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
ENST00000220616	133881973	133882071	Frame-shift
ENST00000220616	133923621	133923778	Frame-shift
ENST00000220616	133981702	133981814	Frame-shift
ENST00000220616	134034235	134034395	Frame-shift
ENST00000220616	134042065	134042268	Frame-shift
ENST00000220616	133895058	133895244	In-frame
ENST00000220616	133898692	133899793	In-frame
ENST00000220616	133913597	133913798	In-frame
ENST00000220616	133918932	133919145	In-frame
ENST00000220616	133925291	133925510	In-frame
ENST00000220616	133931620	133931770	In-frame
ENST00000220616	133935582	133935753	In-frame
ENST00000220616	133953595	133953787	In-frame
ENST00000220616	133961020	133961188	In-frame
ENST00000220616	133973252	133973318	In-frame
ENST00000220616	133975238	133975319	In-frame
ENST00000220616	133978804	133978942	In-frame
ENST00000220616	133995594	133995657	In-frame
ENST00000220616	134024145	134024280	In-frame
ENST00000220616	134107287	134107452	In-frame
ENST00000220616	134108449	134108617	In-frame
ENST00000220616	134128852	134128960	In-frame
ENST00000220616	134144055	134144190	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
ENST00000220616	133881973	133882071	Frame-shift
ENST00000220616	133923621	133923778	Frame-shift
ENST00000220616	133981702	133981814	Frame-shift
ENST00000220616	134034235	134034395	Frame-shift
ENST00000220616	134042065	134042268	Frame-shift
ENST00000220616	133895058	133895244	In-frame
ENST00000220616	133898692	133899793	In-frame
ENST00000220616	133913597	133913798	In-frame
ENST00000220616	133918932	133919145	In-frame
ENST00000220616	133925291	133925510	In-frame
ENST00000220616	133931620	133931770	In-frame
ENST00000220616	133935582	133935753	In-frame
ENST00000220616	133953595	133953787	In-frame
ENST00000220616	133961020	133961188	In-frame
ENST00000220616	133973252	133973318	In-frame
ENST00000220616	133975238	133975319	In-frame
ENST00000220616	133978804	133978942	In-frame
ENST00000220616	133995594	133995657	In-frame
ENST00000220616	134024145	134024280	In-frame
ENST00000220616	134107287	134107452	In-frame
ENST00000220616	134108449	134108617	In-frame
ENST00000220616	134128852	134128960	In-frame
ENST00000220616	134144055	134144190	In-frame

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Infer the effects of exon skipping event on protein functional features for TG

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

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
ENST00000220616	8467	2768	133895058	133895244	930	1115	296	358
ENST00000220616	8467	2768	133898692	133899793	1116	2216	358	725
ENST00000220616	8467	2768	133913597	133913798	3474	3674	1144	1211
ENST00000220616	8467	2768	133918932	133919145	3675	3887	1211	1282
ENST00000220616	8467	2768	133925291	133925510	4200	4418	1386	1459
ENST00000220616	8467	2768	133931620	133931770	4419	4568	1459	1509
ENST00000220616	8467	2768	133935582	133935753	4569	4739	1509	1566
ENST00000220616	8467	2768	133953595	133953787	5082	5273	1680	1744
ENST00000220616	8467	2768	133961020	133961188	5274	5441	1744	1800
ENST00000220616	8467	2768	133973252	133973318	5442	5507	1800	1822
ENST00000220616	8467	2768	133975238	133975319	5508	5588	1822	1849
ENST00000220616	8467	2768	133978804	133978942	5589	5726	1849	1895
ENST00000220616	8467	2768	133995594	133995657	6240	6302	2066	2087
ENST00000220616	8467	2768	134024145	134024280	6303	6437	2087	2132
ENST00000220616	8467	2768	134107287	134107452	7280	7444	2413	2468
ENST00000220616	8467	2768	134108449	134108617	7445	7612	2468	2524
ENST00000220616	8467	2768	134128852	134128960	7795	7902	2585	2620
ENST00000220616	8467	2768	134144055	134144190	7903	8037	2621	2665

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
ENST00000220616	8467	2768	133895058	133895244	930	1115	296	358
ENST00000220616	8467	2768	133898692	133899793	1116	2216	358	725
ENST00000220616	8467	2768	133913597	133913798	3474	3674	1144	1211
ENST00000220616	8467	2768	133918932	133919145	3675	3887	1211	1282
ENST00000220616	8467	2768	133925291	133925510	4200	4418	1386	1459
ENST00000220616	8467	2768	133931620	133931770	4419	4568	1459	1509
ENST00000220616	8467	2768	133935582	133935753	4569	4739	1509	1566
ENST00000220616	8467	2768	133953595	133953787	5082	5273	1680	1744
ENST00000220616	8467	2768	133961020	133961188	5274	5441	1744	1800
ENST00000220616	8467	2768	133973252	133973318	5442	5507	1800	1822
ENST00000220616	8467	2768	133975238	133975319	5508	5588	1822	1849
ENST00000220616	8467	2768	133978804	133978942	5589	5726	1849	1895
ENST00000220616	8467	2768	133995594	133995657	6240	6302	2066	2087
ENST00000220616	8467	2768	134024145	134024280	6303	6437	2087	2132
ENST00000220616	8467	2768	134107287	134107452	7280	7444	2413	2468
ENST00000220616	8467	2768	134108449	134108617	7445	7612	2468	2524
ENST00000220616	8467	2768	134128852	134128960	7795	7902	2585	2620
ENST00000220616	8467	2768	134144055	134144190	7903	8037	2621	2665

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

Top

SNVs in the skipped exons for TG

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

TG_THCA_exon_skip_486080_psi_boxplot.png
boxplot

TG_THCA_exon_skip_486198_psi_boxplot.png
boxplot

- 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
LUAD	TCGA-86-8073-01	exon_skip_486080	133898693	133899793	133898781	133898781	Frame_Shift_Del	G	-	p.L388fs
LIHC	TCGA-DD-A1EG-01	exon_skip_486080	133898693	133899793	133898814	133898814	Frame_Shift_Del	A	-	p.P399fs
KIRP	TCGA-BQ-5877-01	exon_skip_486080	133898693	133899793	133898849	133898849	Frame_Shift_Del	C	-	p.T411fs
THCA	TCGA-DJ-A3UT-01	exon_skip_486080	133898693	133899793	133899011	133899012	Frame_Shift_Del	AG	-	p.K465fs
LIHC	TCGA-DD-A39Y-01	exon_skip_486080	133898693	133899793	133899043	133899043	Frame_Shift_Del	T	-	p.F476fs
LIHC	TCGA-DD-A3A0-01	exon_skip_486080	133898693	133899793	133899043	133899043	Frame_Shift_Del	T	-	p.F476fs
THCA	TCGA-EM-A3FR-01	exon_skip_486080	133898693	133899793	133899146	133899149	Frame_Shift_Del	TGAA	-	p.510_511del
THCA	TCGA-EM-A3FR-01	exon_skip_486080	133898693	133899793	133899146	133899149	Frame_Shift_Del	TGAA	-	p.LN510fs
HNSC	TCGA-CN-A63U-01	exon_skip_486080	133898693	133899793	133899343	133899343	Frame_Shift_Del	G	-	p.E576fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_486080	133898693	133899793	133899542	133899542	Frame_Shift_Del	G	-	p.W642fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_486087	133913598	133913798	133913690	133913690	Frame_Shift_Del	T	-	p.F1176fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_486090	133913667	133913798	133913690	133913690	Frame_Shift_Del	T	-	p.F1176fs
LIHC	TCGA-DD-A3A0-01	exon_skip_486095	133918933	133919145	133919056	133919056	Frame_Shift_Del	C	-	p.S1253fs
LIHC	TCGA-DD-A39Y-01	exon_skip_486114	133923622	133923778	133923630	133923630	Frame_Shift_Del	T	-	p.T1337fs
LIHC	TCGA-DD-A3A0-01	exon_skip_486114	133923622	133923778	133923681	133923681	Frame_Shift_Del	G	-	p.V1354fs
KIRC	TCGA-CJ-4923-01	exon_skip_486121	133925292	133925510	133925416	133925416	Frame_Shift_Del	C	-	p.D1428fs
THCA	TCGA-IM-A3U3-01	exon_skip_486129	133935583	133935753	133935742	133935743	Frame_Shift_Del	CA	-	p.1563_1563del
THCA	TCGA-IM-A3U3-01	exon_skip_486129	133935583	133935753	133935742	133935743	Frame_Shift_Del	CA	-	p.S1563fs
LIHC	TCGA-DD-A3A0-01	exon_skip_486129	133935583	133935753	133935749	133935749	Frame_Shift_Del	T	-	p.C1565fs
LIHC	TCGA-DD-A3A0-01	exon_skip_486164	133953596	133953787	133953628	133953628	Frame_Shift_Del	T	-	p.F1692fs
UCEC	TCGA-BG-A0VZ-01	exon_skip_486164	133953596	133953787	133953749	133953750	Frame_Shift_Del	TG	-	p.L1732fs
ESCA	TCGA-L5-A43J-01	exon_skip_486194	133978805	133978942	133978910	133978910	Frame_Shift_Del	C	-	p.S1885fs
LIHC	TCGA-DD-A1EG-01	exon_skip_486198	133981703	133981814	133981751	133981751	Frame_Shift_Del	A	-	p.Q1971fs
LIHC	TCGA-DD-A39Y-01	exon_skip_486198	133981703	133981814	133981796	133981796	Frame_Shift_Del	A	-	p.E1986fs
LIHC	TCGA-DD-A1EG-01	exon_skip_486211 exon_skip_486216 exon_skip_486214 exon_skip_486221	133995595	133995657	133995617	133995617	Frame_Shift_Del	T	-	p.S2074fs
STAD	TCGA-CG-4437-01	exon_skip_486406	134024146	134024280	134024148	134024175	Frame_Shift_Del	TCTCTGGACTCGTGGCAGTCCCTGGCCC	-	p.V2088fs
GBM	TCGA-06-2559-01	exon_skip_486478	134042066	134042268	134042090	134042090	Frame_Shift_Del	G	-	p.W2354fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_486478	134042066	134042268	134042112	134042112	Frame_Shift_Del	G	-	p.A2362fs
ESCA	TCGA-2H-A9GK-01	exon_skip_486478	134042066	134042268	134042123	134042123	Frame_Shift_Del	G	-	p.V2366fs
ESCA	TCGA-2H-A9GK-01	exon_skip_486478	134042066	134042268	134042123	134042123	Frame_Shift_Del	G	-	p.W2365fs
LIHC	TCGA-DD-A3A0-01	exon_skip_486478	134042066	134042268	134042246	134042246	Frame_Shift_Del	T	-	p.L2406fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_486529	134108450	134108617	134108570	134108570	Frame_Shift_Del	G	-	p.G2509fs
LUAD	TCGA-55-8092-01	exon_skip_486576 exon_skip_486575	134128853	134128960	134128909	134128909	Frame_Shift_Del	C	-	p.A2604fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_486576 exon_skip_486575	134128853	134128960	134128916	134128916	Frame_Shift_Del	A	-	p.G2606fs
LIHC	TCGA-DD-A1EG-01	exon_skip_486576 exon_skip_486575	134128853	134128960	134128942	134128942	Frame_Shift_Del	A	-	p.E2615fs
THCA	TCGA-EL-A3ZQ-01	exon_skip_486078	133895059	133895244	133895206	133895207	Frame_Shift_Ins	-	G	p.M346fs
THCA	TCGA-EL-A3ZQ-01	exon_skip_486078	133895059	133895244	133895206	133895207	Frame_Shift_Ins	-	G	p.T346fs
LIHC	TCGA-BC-A10U-01	exon_skip_486080	133898693	133899793	133899174	133899175	Frame_Shift_Ins	-	A	p.A520fs
LIHC	TCGA-BC-A112-01	exon_skip_486080	133898693	133899793	133899217	133899218	Frame_Shift_Ins	-	C	p.P534fs
KIRC	TCGA-AK-3426-01	exon_skip_486080	133898693	133899793	133899695	133899696	Frame_Shift_Ins	-	C	p.F693fs
KIRP	TCGA-HE-A5NF-01	exon_skip_486080	133898693	133899793	133899726	133899727	Frame_Shift_Ins	-	TA	p.C703fs
KICH	TCGA-KO-8404-01	exon_skip_486087	133913598	133913798	133913781	133913782	Frame_Shift_Ins	-	C	p.G1206fs
KICH	TCGA-KO-8404-01	exon_skip_486090	133913667	133913798	133913781	133913782	Frame_Shift_Ins	-	C	p.G1206fs
STAD	TCGA-B7-5816-01	exon_skip_486186	133975239	133975319	133975278	133975279	Frame_Shift_Ins	-	A	p.R1836fs
THCA	TCGA-EL-A3H1-01	exon_skip_486194	133978805	133978942	133978928	133978929	Frame_Shift_Ins	-	A	p.L1891fs
THCA	TCGA-ET-A3BO-01	exon_skip_486198	133981703	133981814	133981764	133981765	Frame_Shift_Ins	-	AT	p.G1975fs
THCA	TCGA-ET-A3BO-01	exon_skip_486198	133981703	133981814	133981764	133981765	Frame_Shift_Ins	-	AT	p.I1976fs
HNSC	TCGA-CV-A6JE-01	exon_skip_486406	134024146	134024280	134024224	134024225	Frame_Shift_Ins	-	T	p.R2114fs
HNSC	TCGA-CV-6951-01	exon_skip_486080	133898693	133899793	133898695	133898695	Nonsense_Mutation	G	T	p.E360*
LUAD	TCGA-55-8302-01	exon_skip_486080	133898693	133899793	133898950	133898950	Nonsense_Mutation	C	T	p.R445*
STAD	TCGA-BR-4184-01	exon_skip_486080	133898693	133899793	133898950	133898950	Nonsense_Mutation	C	T	p.R445*
LIHC	TCGA-G3-AAV5-01	exon_skip_486080	133898693	133899793	133899121	133899121	Nonsense_Mutation	C	T	p.Q502X
CESC	TCGA-EA-A3Y4-01	exon_skip_486095	133918933	133919145	133919127	133919127	Nonsense_Mutation	C	T	p.Q1277*
SKCM	TCGA-D3-A5GO-06	exon_skip_486114	133923622	133923778	133923722	133923722	Nonsense_Mutation	G	A	p.W1368*
SKCM	TCGA-D3-A5GO-06	exon_skip_486114	133923622	133923778	133923722	133923722	Nonsense_Mutation	G	A	p.W1368X
SKCM	TCGA-EE-A2M6-06	exon_skip_486164	133953596	133953787	133953646	133953646	Nonsense_Mutation	C	T	p.Q1698*
SKCM	TCGA-EE-A2M6-06	exon_skip_486164	133953596	133953787	133953646	133953646	Nonsense_Mutation	C	T	p.Q1698X
STAD	TCGA-CD-A4MG-01	exon_skip_486172 exon_skip_486169	133961021	133961188	133961176	133961176	Nonsense_Mutation	G	T	p.E1797*
UCEC	TCGA-B5-A11N-01	exon_skip_486194	133978805	133978942	133978816	133978816	Nonsense_Mutation	G	T	p.E1854*
ESCA	TCGA-2H-A9GR-01	exon_skip_486478	134042066	134042268	134042140	134042140	Nonsense_Mutation	C	T	p.R2371*
ESCA	TCGA-2H-A9GR-01	exon_skip_486478	134042066	134042268	134042140	134042140	Nonsense_Mutation	C	T	p.R2371X
OV	TCGA-23-1030-01	exon_skip_486478	134042066	134042268	134042140	134042140	Nonsense_Mutation	C	T	p.R2371*
UCEC	TCGA-AP-A056-01	exon_skip_486478	134042066	134042268	134042143	134042143	Nonsense_Mutation	G	T	p.G2372*
READ	TCGA-AG-A002-01	exon_skip_486517	134107288	134107452	134107393	134107393	Nonsense_Mutation	G	T	p.E2449X
SKCM	TCGA-EE-A2A5-06	exon_skip_486529	134108450	134108617	134108579	134108579	Nonsense_Mutation	C	T	p.Q2512*
SKCM	TCGA-EE-A2A5-06	exon_skip_486529	134108450	134108617	134108579	134108579	Nonsense_Mutation	C	T	p.Q2512X
LIHC	TCGA-DD-A1EF-01	exon_skip_486172 exon_skip_486169	133961021	133961188	133961019	133961019	Splice_Site	A	G	.
UCEC	TCGA-BS-A0UF-01	exon_skip_486194	133978805	133978942	133978943	133978943	Splice_Site	G	A	e30+1
LUAD	TCGA-44-2659-01	exon_skip_486478	134042066	134042268	134042065	134042065	Splice_Site	G	T	p.G2346_splice
SKCM	TCGA-FW-A3R5-06	exon_skip_486610	134144056	134144190	134144055	134144055	Splice_Site	G	A	.
STAD	TCGA-CG-4305-01	exon_skip_486610	134144056	134144190	134144191	134144191	Splice_Site	G	T	p.G2666_splice

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-ET-A3BO-01
	Cancer type: THCA
	ESID: exon_skip_486198
	Skipped exon start: 133981703
	Skipped exon end: 133981814
	Mutation start: 133981764
	Mutation end: 133981765
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: AT
	AAchange: p.G1975fs
	Sample: TCGA-ET-A3BO-01
	Cancer type: THCA
	ESID: exon_skip_486198
	Skipped exon start: 133981703
	Skipped exon end: 133981814
	Mutation start: 133981764
	Mutation end: 133981765
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: AT
	AAchange: p.I1976fs
exon_skip_486198_THCA_TCGA-ET-A3BO-01.png
	Sample: TCGA-EM-A3FR-01
	Cancer type: THCA
	ESID: exon_skip_486080
	Skipped exon start: 133898693
	Skipped exon end: 133899793
	Mutation start: 133899146
	Mutation end: 133899149
	Mutation type: Frame_Shift_Del
	Reference seq: TGAA
	Mutation seq: -
	AAchange: p.510_511del
	Sample: TCGA-EM-A3FR-01
	Cancer type: THCA
	ESID: exon_skip_486080
	Skipped exon start: 133898693
	Skipped exon end: 133899793
	Mutation start: 133899146
	Mutation end: 133899149
	Mutation type: Frame_Shift_Del
	Reference seq: TGAA
	Mutation seq: -
	AAchange: p.LN510fs
exon_skip_486080_THCA_TCGA-EM-A3FR-01.png
	Sample: TCGA-DJ-A3UT-01
	Cancer type: THCA
	ESID: exon_skip_486080
	Skipped exon start: 133898693
	Skipped exon end: 133899793
	Mutation start: 133899011
	Mutation end: 133899012
	Mutation type: Frame_Shift_Del
	Reference seq: AG
	Mutation seq: -
	AAchange: p.K465fs
exon_skip_486080_THCA_TCGA-DJ-A3UT-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
NCIH1793_LUNG	133913598	133913798	133913650	133913650	Frame_Shift_Del	C	-	p.S1162fs
SHP77_LUNG	133918933	133919145	133919070	133919070	Frame_Shift_Del	C	-	p.P1259fs
MS751_CERVIX	133961021	133961188	133961113	133961114	Frame_Shift_Del	AC	-	p.T1776fs
SNU175_LARGE_INTESTINE	133995595	133995657	133995617	133995617	Frame_Shift_Del	T	-	p.S2074fs
GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133881974	133882071	133882052	133882052	Missense_Mutation	G	T	p.Q85H
Y79_AUTONOMIC_GANGLIA	133895059	133895244	133895134	133895134	Missense_Mutation	A	T	p.N322I
NCIH1650_LUNG	133895059	133895244	133895164	133895164	Missense_Mutation	C	T	p.T332M
MEWO_SKIN	133895059	133895244	133895169	133895169	Missense_Mutation	G	A	p.G334R
OSC19_UPPER_AERODIGESTIVE_TRACT	133895059	133895244	133895180	133895180	Missense_Mutation	G	T	p.W337C
YD15_SALIVARY_GLAND	133898693	133899793	133898695	133898695	Missense_Mutation	G	C	p.E360Q
NCIH1339_LUNG	133898693	133899793	133898849	133898849	Missense_Mutation	C	T	p.T411M
NCIH2087_LUNG	133898693	133899793	133898890	133898890	Missense_Mutation	A	G	p.M425V
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133898693	133899793	133898905	133898905	Missense_Mutation	A	T	p.S430C
SNU324_PANCREAS	133898693	133899793	133898948	133898948	Missense_Mutation	T	C	p.I444T
HCC15_LUNG	133898693	133899793	133898969	133898969	Missense_Mutation	G	T	p.R451L
SKGT2_STOMACH	133898693	133899793	133899006	133899006	Missense_Mutation	C	A	p.N463K
AGS_STOMACH	133898693	133899793	133899088	133899088	Missense_Mutation	A	G	p.T491A
KYSE220_OESOPHAGUS	133898693	133899793	133899089	133899089	Missense_Mutation	C	T	p.T491I
SEKI_SKIN	133898693	133899793	133899110	133899110	Missense_Mutation	G	C	p.S498T
SNU81_LARGE_INTESTINE	133898693	133899793	133899116	133899116	Missense_Mutation	T	G	p.F500C
VMRCRCW_KIDNEY	133898693	133899793	133899136	133899136	Missense_Mutation	G	A	p.A507T
NCIH1770_LUNG	133898693	133899793	133899151	133899151	Missense_Mutation	G	A	p.G512R
NCIH2106_LUNG	133898693	133899793	133899151	133899151	Missense_Mutation	G	A	p.G512R
MCC13_SKIN	133898693	133899793	133899249	133899249	Missense_Mutation	G	A	p.M544I
SNU1040_LARGE_INTESTINE	133898693	133899793	133899323	133899323	Missense_Mutation	C	T	p.A569V
CORL24_LUNG	133898693	133899793	133899412	133899412	Missense_Mutation	A	G	p.M599V
SNU449_LIVER	133898693	133899793	133899440	133899440	Missense_Mutation	G	A	p.C608Y
SBC1_LUNG	133898693	133899793	133899452	133899452	Missense_Mutation	C	G	p.P612R
TGW_AUTONOMIC_GANGLIA	133898693	133899793	133899452	133899452	Missense_Mutation	C	G	p.P612R
IGROV1_OVARY	133898693	133899793	133899533	133899533	Missense_Mutation	T	C	p.V639A
NCIH1770_LUNG	133898693	133899793	133899550	133899550	Missense_Mutation	G	A	p.E645K
NCIH2106_LUNG	133898693	133899793	133899550	133899550	Missense_Mutation	G	A	p.E645K
SNU1040_LARGE_INTESTINE	133898693	133899793	133899605	133899605	Missense_Mutation	A	T	p.E663V
KGN_OVARY	133898693	133899793	133899614	133899614	Missense_Mutation	G	A	p.R666K
SNU81_LARGE_INTESTINE	133898693	133899793	133899619	133899619	Missense_Mutation	C	T	p.R668C
RERFLCMS_LUNG	133898693	133899793	133899673	133899673	Missense_Mutation	G	A	p.A686T
CCK81_LARGE_INTESTINE	133898693	133899793	133899674	133899674	Missense_Mutation	C	T	p.A686V
JHUEM7_ENDOMETRIUM	133898693	133899793	133899789	133899789	Missense_Mutation	G	T	p.K724N
BICR22_UPPER_AERODIGESTIVE_TRACT	133913598	133913798	133913641	133913641	Missense_Mutation	G	C	p.R1159S
EBC1_LUNG	133913598	133913798	133913682	133913682	Missense_Mutation	A	G	p.D1173G
EBC1_LUNG	133913667	133913798	133913682	133913682	Missense_Mutation	A	G	p.D1173G
TGBC11TKB_STOMACH	133913598	133913798	133913682	133913682	Missense_Mutation	A	G	p.D1173G
TGBC11TKB_STOMACH	133913667	133913798	133913682	133913682	Missense_Mutation	A	G	p.D1173G
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133913598	133913798	133913699	133913699	Missense_Mutation	G	A	p.V1179M
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133913667	133913798	133913699	133913699	Missense_Mutation	G	A	p.V1179M
MMACSF_SKIN	133913598	133913798	133913712	133913712	Missense_Mutation	A	C	p.Q1183P
MMACSF_SKIN	133913667	133913798	133913712	133913712	Missense_Mutation	A	C	p.Q1183P
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133913598	133913798	133913744	133913744	Missense_Mutation	A	G	p.S1194G
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133913667	133913798	133913744	133913744	Missense_Mutation	A	G	p.S1194G
OVK18_OVARY	133913598	133913798	133913755	133913755	Missense_Mutation	G	T	p.E1197D
OVK18_OVARY	133913667	133913798	133913755	133913755	Missense_Mutation	G	T	p.E1197D
SNUC2A_LARGE_INTESTINE	133913598	133913798	133913766	133913766	Missense_Mutation	C	T	p.T1201M
SNUC2A_LARGE_INTESTINE	133913667	133913798	133913766	133913766	Missense_Mutation	C	T	p.T1201M
SNUC2B_LARGE_INTESTINE	133913598	133913798	133913766	133913766	Missense_Mutation	C	T	p.T1201M
SNUC2B_LARGE_INTESTINE	133913667	133913798	133913766	133913766	Missense_Mutation	C	T	p.T1201M
MERO83_LUNG	133913598	133913798	133913771	133913771	Missense_Mutation	G	A	p.V1203M
MERO83_LUNG	133913667	133913798	133913771	133913771	Missense_Mutation	G	A	p.V1203M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133913598	133913798	133913793	133913793	Missense_Mutation	G	A	p.C1210Y
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133913667	133913798	133913793	133913793	Missense_Mutation	G	A	p.C1210Y
SCC9_UPPER_AERODIGESTIVE_TRACT	133918933	133919145	133918939	133918939	Missense_Mutation	G	A	p.R1214Q
MDAPCA2B_PROSTATE	133918933	133919145	133918966	133918966	Missense_Mutation	A	G	p.E1223G
NCIH1703_LUNG	133918933	133919145	133918966	133918966	Missense_Mutation	A	G	p.E1223G
HCE4_OESOPHAGUS	133918933	133919145	133919029	133919029	Missense_Mutation	A	G	p.Q1244R
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133918933	133919145	133919031	133919031	Missense_Mutation	T	A	p.C1245S
OCILY10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133918933	133919145	133919031	133919031	Missense_Mutation	T	A	p.C1245S
NCIH1355_LUNG	133918933	133919145	133919084	133919084	Missense_Mutation	G	T	p.L1262F
HEC108_ENDOMETRIUM	133923622	133923778	133923671	133923671	Missense_Mutation	C	T	p.S1351F
NCIH2227_LUNG	133923622	133923778	133923686	133923686	Missense_Mutation	G	T	p.C1356F
TE10_OESOPHAGUS	133923622	133923778	133923686	133923686	Missense_Mutation	G	A	p.C1356Y
SNU520_STOMACH	133923622	133923778	133923706	133923706	Missense_Mutation	G	A	p.G1363R
DOV13_OVARY	133923622	133923778	133923731	133923731	Missense_Mutation	G	A	p.R1371Q
HS294T_SKIN	133923622	133923778	133923731	133923731	Missense_Mutation	G	A	p.R1371Q
NCIH650_LUNG	133923622	133923778	133923769	133923769	Missense_Mutation	C	T	p.H1384Y
DJM1_SKIN	133923622	133923778	133923769	133923769	Missense_Mutation	C	T	p.H1384Y
SW579_THYROID	133923622	133923778	133923770	133923770	Missense_Mutation	A	G	p.H1384R
CGTHW1_THYROID	133923622	133923778	133923770	133923770	Missense_Mutation	A	G	p.H1384R
JHUEM7_ENDOMETRIUM	133925292	133925510	133925379	133925379	Missense_Mutation	C	T	p.T1416M
R262_CENTRAL_NERVOUS_SYSTEM	133925292	133925510	133925400	133925400	Missense_Mutation	G	A	p.R1423H
GB1_CENTRAL_NERVOUS_SYSTEM	133925292	133925510	133925400	133925400	Missense_Mutation	G	T	p.R1423L
U251MG_CENTRAL_NERVOUS_SYSTEM	133925292	133925510	133925400	133925400	Missense_Mutation	G	A	p.R1423H
CAL72_BONE	133925292	133925510	133925400	133925400	Missense_Mutation	G	A	p.R1423H
CW2_LARGE_INTESTINE	133925292	133925510	133925420	133925420	Missense_Mutation	T	C	p.F1430L
COLO775_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133925292	133925510	133925452	133925452	Missense_Mutation	C	G	p.C1440W
NCCSTCK140_STOMACH	133925292	133925510	133925480	133925480	Missense_Mutation	A	C	p.S1450R
NUGC2_STOMACH	133925292	133925510	133925498	133925498	Missense_Mutation	G	A	p.G1456R
OVMANA_OVARY	133925292	133925510	133925498	133925498	Missense_Mutation	G	A	p.G1456R
MET2B	133925292	133925510	133925499	133925499	Missense_Mutation	G	A	p.G1456E
SBC5_LUNG	133931621	133931770	133931719	133931719	Missense_Mutation	T	C	p.C1493R
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133935583	133935753	133935601	133935601	Missense_Mutation	G	A	p.R1516K
NCIH513_PLEURA	133935583	133935753	133935699	133935699	Missense_Mutation	C	T	p.R1549W
COLO680N_OESOPHAGUS	133935583	133935753	133935700	133935700	Missense_Mutation	G	A	p.R1549Q
SW1990_PANCREAS	133935583	133935753	133935721	133935721	Missense_Mutation	C	G	p.T1556R
SNU1040_LARGE_INTESTINE	133953596	133953787	133953734	133953734	Missense_Mutation	C	T	p.A1727V
NCIH660_PROSTATE	133953596	133953787	133953737	133953737	Missense_Mutation	G	A	p.C1728Y
ONS76_CENTRAL_NERVOUS_SYSTEM	133953596	133953787	133953766	133953766	Missense_Mutation	G	C	p.V1738L
HCC1395_BREAST	133961021	133961188	133961051	133961051	Missense_Mutation	C	G	p.P1755R
NCIH1563_LUNG	133961021	133961188	133961093	133961093	Missense_Mutation	C	G	p.S1769C
UMUC5_URINARY_TRACT	133973253	133973318	133973292	133973292	Missense_Mutation	A	G	p.N1814S
SNU685_ENDOMETRIUM	133973253	133973318	133973298	133973298	Missense_Mutation	A	G	p.Q1816R
KMRC1_KIDNEY	133973253	133973318	133973298	133973298	Missense_Mutation	A	G	p.Q1816R
KON_UPPER_AERODIGESTIVE_TRACT	133973253	133973318	133973309	133973309	Missense_Mutation	C	T	p.L1820F
NCIH2347_LUNG	133975239	133975319	133975249	133975249	Missense_Mutation	G	T	p.M1826I
NCIH187_LUNG	133975239	133975319	133975299	133975299	Missense_Mutation	C	G	p.P1843R
KYSE30_OESOPHAGUS	133978805	133978942	133978816	133978816	Missense_Mutation	G	A	p.E1854K
NCIH650_LUNG	133978805	133978942	133978845	133978845	Missense_Mutation	G	T	p.Q1863H
NCIH1573_LUNG	133978805	133978942	133978865	133978865	Missense_Mutation	A	T	p.Q1870L
MCC13_SKIN	133978805	133978942	133978936	133978936	Missense_Mutation	C	T	p.L1894F
CW2_LARGE_INTESTINE	133981703	133981814	133981720	133981720	Missense_Mutation	G	A	p.V1961M
HEC59_ENDOMETRIUM	133981703	133981814	133981723	133981723	Missense_Mutation	A	G	p.K1962E
HEC251_ENDOMETRIUM	133981703	133981814	133981725	133981725	Missense_Mutation	G	T	p.K1962N
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133981703	133981814	133981783	133981783	Missense_Mutation	G	A	p.V1982M
HCT15_LARGE_INTESTINE	133981703	133981814	133981811	133981811	Missense_Mutation	A	T	p.N1991I
HCC1419_BREAST	134024146	134024280	134024154	134024154	Missense_Mutation	G	T	p.D2091Y
BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	134024146	134024280	134024184	134024184	Missense_Mutation	G	A	p.V2101M
MELJUSO_SKIN	134024146	134024280	134024197	134024197	Missense_Mutation	C	T	p.P2105L
NCIH1770_LUNG	134024146	134024280	134024242	134024242	Missense_Mutation	C	T	p.T2120I
NCIH2106_LUNG	134024146	134024280	134024242	134024242	Missense_Mutation	C	T	p.T2120I
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	134034236	134034395	134034246	134034246	Missense_Mutation	C	T	p.A2296V
HCC2998_LARGE_INTESTINE	134034236	134034395	134034279	134034279	Missense_Mutation	A	G	p.D2307G
A431_SKIN	134034236	134034395	134034293	134034293	Missense_Mutation	G	A	p.E2312K
CHLA258_BONE	134034236	134034395	134034310	134034310	Missense_Mutation	C	G	p.I2317M
MIAPACA2_PANCREAS	134034236	134034395	134034312	134034312	Missense_Mutation	A	C	p.D2318A
HCC1359_LUNG	134034236	134034395	134034313	134034313	Missense_Mutation	C	G	p.D2318E
KYSE520_OESOPHAGUS	134034236	134034395	134034318	134034318	Missense_Mutation	C	T	p.S2320F
SW684_SOFT_TISSUE	134034236	134034395	134034338	134034338	Missense_Mutation	A	T	p.N2327Y
NCIH510_LUNG	134034236	134034395	134034361	134034361	Missense_Mutation	C	G	p.S2334R
NCIH2887_LUNG	134042066	134042268	134042111	134042111	Missense_Mutation	C	T	p.A2361V
DV90_LUNG	134042066	134042268	134042111	134042111	Missense_Mutation	C	T	p.A2361V
HEC59_ENDOMETRIUM	134042066	134042268	134042161	134042161	Missense_Mutation	C	T	p.R2378W
SEKI_SKIN	134042066	134042268	134042164	134042164	Missense_Mutation	C	A	p.R2379S
NCIH1734_LUNG	134042066	134042268	134042186	134042186	Missense_Mutation	G	T	p.R2386L
OVKATE_OVARY	134042066	134042268	134042197	134042197	Missense_Mutation	G	A	p.D2390N
HEC59_ENDOMETRIUM	134042066	134042268	134042213	134042213	Missense_Mutation	A	G	p.H2395R
EBC1_LUNG	134042066	134042268	134042222	134042222	Missense_Mutation	C	T	p.T2398M
NCIH510_LUNG	134107288	134107452	134107316	134107316	Missense_Mutation	T	A	p.V2423D
SNU1_STOMACH	134107288	134107452	134107318	134107318	Missense_Mutation	A	G	p.I2424V
HEC1B_ENDOMETRIUM	134107288	134107452	134107349	134107349	Missense_Mutation	T	A	p.I2434N
CW2_LARGE_INTESTINE	134107288	134107452	134107380	134107380	Missense_Mutation	G	A	p.M2444I
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	134107288	134107452	134107380	134107380	Missense_Mutation	G	A	p.M2444I
YD10B_UPPER_AERODIGESTIVE_TRACT	134107288	134107452	134107385	134107385	Missense_Mutation	C	T	p.S2446F
WM278_SKIN	134107288	134107452	134107389	134107389	Missense_Mutation	C	G	p.S2447R
LS411N_LARGE_INTESTINE	134107288	134107452	134107424	134107424	Missense_Mutation	C	T	p.A2459V
NCIBL1395_MATCHED_NORMAL_TISSUE	134108450	134108617	134108489	134108489	Missense_Mutation	G	A	p.V2482M
NCIH1395_LUNG	134108450	134108617	134108489	134108489	Missense_Mutation	G	A	p.V2482M
HCC1569_BREAST	134108450	134108617	134108502	134108502	Missense_Mutation	A	G	p.H2486R
CP66EBV_MATCHED_NORMAL_TISSUE	134108450	134108617	134108507	134108507	Missense_Mutation	C	T	p.L2488F
CP66MEL_SKIN	134108450	134108617	134108507	134108507	Missense_Mutation	C	T	p.L2488F
HT115_LARGE_INTESTINE	134108450	134108617	134108541	134108541	Missense_Mutation	C	A	p.S2499Y
KON_UPPER_AERODIGESTIVE_TRACT	134108450	134108617	134108555	134108555	Missense_Mutation	G	A	p.V2504I
GCIY_STOMACH	134128853	134128960	134128881	134128881	Missense_Mutation	G	T	p.D2595Y
KE39_STOMACH	134128853	134128960	134128950	134128950	Missense_Mutation	G	A	p.G2618S
MFE319_ENDOMETRIUM	134144056	134144190	134144105	134144105	Missense_Mutation	C	T	p.P2638S
CW2_LARGE_INTESTINE	134144056	134144190	134144117	134144117	Missense_Mutation	G	T	p.G2642W
SNU1214_UPPER_AERODIGESTIVE_TRACT	134144056	134144190	134144118	134144118	Missense_Mutation	G	T	p.G2642V
OCUBM_BREAST	134144056	134144190	134144162	134144162	Missense_Mutation	C	G	p.Q2657E
SNU119_OVARY	133895059	133895244	133895072	133895072	Nonsense_Mutation	T	A	p.C301*
TCCSUP_URINARY_TRACT	133898693	133899793	133898950	133898950	Nonsense_Mutation	C	T	p.R445*
SEKI_SKIN	133898693	133899793	133899112	133899112	Nonsense_Mutation	C	T	p.Q499*
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133898693	133899793	133899706	133899706	Nonsense_Mutation	C	T	p.Q697*
MCF7_BREAST	133923622	133923778	133923706	133923706	Nonsense_Mutation	G	T	p.G1363*
TT_OESOPHAGUS	134024146	134024280	134024262	134024262	Nonsense_Mutation	C	T	p.R2127*
HOP62_LUNG	134144056	134144190	134144114	134144114	Nonsense_Mutation	G	T	p.E2641*
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	134144056	134144190	134144120	134144120	Nonsense_Mutation	C	T	p.Q2643*
NCIH2110_LUNG	133913598	133913798	133913797	133913797	Splice_Site	G	T	p.E1211D
NCIH2110_LUNG	133913667	133913798	133913797	133913797	Splice_Site	G	T	p.E1211D
HT55_LARGE_INTESTINE	133913598	133913798	133913798	133913798	Splice_Site	A	T	p.S1212C
HT55_LARGE_INTESTINE	133913667	133913798	133913798	133913798	Splice_Site	A	T	p.S1212C
NCIH358_LUNG	133925292	133925510	133925293	133925293	Splice_Site	G	C	p.E1387D
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	133925292	133925510	133925509	133925509	Splice_Site	C	T	p.C1459C
TTC549_SOFT_TISSUE	133981703	133981814	133981704	133981704	Splice_Site	T	C	p.V1955V
NCIH650_LUNG	133995595	133995657	133995657	133995657	Splice_Site	G	T	p.V2088L
MEWO_SKIN	134107288	134107452	134107289	134107289	Splice_Site	G	A	p.G2414E

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TG

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_486186	8	133973252:133973318:133975238:133975319:133978804:133978942	133975238:133975319	ENST00000542445.1,ENST00000377869.1,ENST00000523756.1,ENST00000220616.4,ENST00000519178.1	THCA	rs2069561	chr8:133975283	G/A	1.61e-97
exon_skip_486186	8	133973252:133973318:133975238:133975319:133978804:133978942	133975238:133975319	ENST00000542445.1,ENST00000377869.1,ENST00000523756.1,ENST00000220616.4,ENST00000519178.1	THCA	rs2069561	chr8:133975283	G/A	2.32e-10
exon_skip_486124	8	133925293:133925510:133931620:133931770:133941320:133941437	133931620:133931770	ENST00000377869.1	THCA	rs853304	chr8:133931748	A/G	9.06e-49
exon_skip_486124	8	133925293:133925510:133931620:133931770:133941320:133941437	133931620:133931770	ENST00000377869.1	THCA	rs853304	chr8:133931748	A/G	1.06e-17
exon_skip_486123	8	133925291:133925510:133931620:133931770:133935582:133935753	133931620:133931770	ENST00000523756.1,ENST00000220616.4	THCA	rs853304	chr8:133931748	A/G	9.06e-49
exon_skip_486123	8	133925291:133925510:133931620:133931770:133935582:133935753	133931620:133931770	ENST00000523756.1,ENST00000220616.4	THCA	rs853304	chr8:133931748	A/G	1.06e-17

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TG

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TG

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RelatedDrugs for TG

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 TG

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
TG	C0342194	Thyroid Dyshormonogenesis 3	5	CTD_human;UNIPROT
TG	C0018021	Goiter	2	CTD_human;HPO
TG	C0013336	Dwarfism	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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