ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PAX8

Gene summary

Gene information	Gene symbol	PAX8
	Gene ID	7849
	Gene name	paired box 8
	Synonyms	-
	Cytomap	2q14.1
	Type of gene	protein-coding
	Description	paired box protein Pax-8paired domain gene 8
	Modification date	20180519
	UniProtAcc	Q06710
	Context	PubMed: PAX8 [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
PAX8	GO:0006351	transcription, DNA-templated	9590296
PAX8	GO:0045893	positive regulation of transcription, DNA-templated	9388203\|15356023\|15961562
PAX8	GO:0045944	positive regulation of transcription by RNA polymerase II	9388203
PAX8	GO:0071371	cellular response to gonadotropin stimulus	15961562

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Exon skipping events across known transcript of Ensembl for PAX8 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 PAX8

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 PAX8

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_342634	2	113976104:113976186:113977668:113977755:113984731:113984833	113977668:113977755	ENSG00000125618.12	ENST00000497038.2,ENST00000348715.5,ENST00000468980.2,ENST00000263335.7,ENST00000429538.3
exon_skip_342708	2	113977668:113977755:113984675:113984833:113992970:113993020	113984675:113984833	ENSG00000125618.12	ENST00000465084.1
exon_skip_342711	2	113977668:113977755:113984731:113984833:113992970:113993020	113984731:113984833	ENSG00000125618.12	ENST00000497038.2,ENST00000348715.5,ENST00000263334.5,ENST00000429538.3
exon_skip_342712	2	113977668:113977755:113984731:113984833:113994177:113994298	113984731:113984833	ENSG00000125618.12	ENST00000468980.2
exon_skip_342713	2	113977668:113977755:113984731:113984833:113999127:113999260	113984731:113984833	ENSG00000125618.12	ENST00000263335.7
exon_skip_342787	2	113984731:113984833:113992970:113993080:113994177:113994269	113992970:113993080	ENSG00000125618.12	ENST00000348715.5,ENST00000263334.5
exon_skip_342790	2	113984731:113984833:113992970:113993159:113994177:113994269	113992970:113993159	ENSG00000125618.12	ENST00000497038.2,ENST00000485840.1,ENST00000429538.3
exon_skip_342795	2	113984731:113984833:113994177:113994298:113999127:113999260	113994177:113994298	ENSG00000125618.12	ENST00000468980.2
exon_skip_342805	2	113992970:113993080:113994177:113994298:113999127:113999260	113994177:113994298	ENSG00000125618.12	ENST00000348715.5,ENST00000263334.5
exon_skip_342814	2	114000266:114000355:114002003:114002201:114004330:114004496	114002003:114002201	ENSG00000125618.12	ENST00000348715.5,ENST00000397647.3,ENST00000263334.5,ENST00000467778.1,ENST00000263335.7,ENST00000429538.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PAX8

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_342634	2	113976104:113976186:113977668:113977755:113984731:113984833	113977668:113977755	ENSG00000125618.12	ENST00000263335.7,ENST00000348715.5,ENST00000429538.3,ENST00000497038.2,ENST00000468980.2
exon_skip_342708	2	113977668:113977755:113984675:113984833:113992970:113993020	113984675:113984833	ENSG00000125618.12	ENST00000465084.1
exon_skip_342711	2	113977668:113977755:113984731:113984833:113992970:113993020	113984731:113984833	ENSG00000125618.12	ENST00000348715.5,ENST00000429538.3,ENST00000497038.2,ENST00000263334.5
exon_skip_342712	2	113977668:113977755:113984731:113984833:113994177:113994298	113984731:113984833	ENSG00000125618.12	ENST00000468980.2
exon_skip_342713	2	113977668:113977755:113984731:113984833:113999127:113999260	113984731:113984833	ENSG00000125618.12	ENST00000263335.7
exon_skip_342787	2	113984731:113984833:113992970:113993080:113994177:113994269	113992970:113993080	ENSG00000125618.12	ENST00000348715.5,ENST00000263334.5
exon_skip_342790	2	113984731:113984833:113992970:113993159:113994177:113994269	113992970:113993159	ENSG00000125618.12	ENST00000429538.3,ENST00000497038.2,ENST00000485840.1
exon_skip_342795	2	113984731:113984833:113994177:113994298:113999127:113999260	113994177:113994298	ENSG00000125618.12	ENST00000468980.2
exon_skip_342805	2	113992970:113993080:113994177:113994298:113999127:113999260	113994177:113994298	ENSG00000125618.12	ENST00000348715.5,ENST00000263334.5
exon_skip_342814	2	114000266:114000355:114002003:114002201:114004330:114004496	114002003:114002201	ENSG00000125618.12	ENST00000263335.7,ENST00000397647.3,ENST00000348715.5,ENST00000429538.3,ENST00000263334.5,ENST00000467778.1

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 PAX8

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
ENST00000263334	113992970	113993080	Frame-shift
ENST00000263334	113994177	113994298	Frame-shift
ENST00000429538	113977668	113977755	In-frame
ENST00000263334	113984731	113984833	In-frame
ENST00000429538	113984731	113984833	In-frame
ENST00000429538	113992970	113993159	In-frame
ENST00000263334	114002003	114002201	In-frame
ENST00000429538	114002003	114002201	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
ENST00000263334	113992970	113993080	Frame-shift
ENST00000263334	113994177	113994298	Frame-shift
ENST00000429538	113977668	113977755	In-frame
ENST00000263334	113984731	113984833	In-frame
ENST00000429538	113984731	113984833	In-frame
ENST00000429538	113992970	113993159	In-frame
ENST00000263334	114002003	114002201	In-frame
ENST00000429538	114002003	114002201	In-frame

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Infer the effects of exon skipping event on protein functional features for PAX8

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
ENST00000263334	1214	450	114002003	114002201	192	389	64	129
ENST00000429538	4101	450	114002003	114002201	387	584	64	129
ENST00000429538	4101	450	113992970	113993159	1094	1282	299	362
ENST00000263334	1214	450	113984731	113984833	1009	1110	336	370
ENST00000429538	4101	450	113984731	113984833	1283	1384	362	396
ENST00000429538	4101	450	113977668	113977755	1385	1471	396	425

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
ENST00000263334	1214	450	114002003	114002201	192	389	64	129
ENST00000429538	4101	450	114002003	114002201	387	584	64	129
ENST00000429538	4101	450	113992970	113993159	1094	1282	299	362
ENST00000263334	1214	450	113984731	113984833	1009	1110	336	370
ENST00000429538	4101	450	113984731	113984833	1283	1384	362	396
ENST00000429538	4101	450	113977668	113977755	1385	1471	396	425

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
Q06710	64	129	100	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	100	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	1	450	Chain	ID=PRO_0000050197;Note=Paired box protein Pax-8
Q06710	64	129	1	450	Chain	ID=PRO_0000050197;Note=Paired box protein Pax-8
Q06710	64	129	9	135	Domain	Note=Paired;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00381
Q06710	64	129	9	135	Domain	Note=Paired;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00381
Q06710	64	129	88	98	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	88	98	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	104	114	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	104	114	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	125	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	125	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	119	121	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	119	121	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	299	362	260	450	Alternative sequence	ID=VSP_002374;Note=In isoform 4. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->GERWWGPRCPDTHPTSPPADRAAMPPLPS
Q06710	299	362	260	450	Alternative sequence	ID=VSP_002375;Note=In isoform 5. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->EVNTLAMPMATPPTPPTARPGASPTPAC;
Q06710	299	362	300	450	Alternative sequence	ID=VSP_002373;Note=In isoform 3. DPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->APPFWICSKSAPGSRPSMPFPMLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAW
Q06710	299	362	300	362	Alternative sequence	ID=VSP_002372;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1337742;Dbxref=PMID:1337742
Q06710	299	362	1	450	Chain	ID=PRO_0000050197;Note=Paired box protein Pax-8
Q06710	299	362	315	327	Compositional bias	Note=Ser-rich
Q06710	299	362	303	303	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q00288
Q06710	299	362	329	329	Natural variant	ID=VAR_012773;Note=F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1337742;Dbxref=dbSNP:rs3188996,PMID:1337742
Q06710	299	362	305	305	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q06710	299	362	322	322	Sequence conflict	Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q06710	336	370	260	450	Alternative sequence	ID=VSP_002374;Note=In isoform 4. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->GERWWGPRCPDTHPTSPPADRAAMPPLPS
Q06710	336	370	260	450	Alternative sequence	ID=VSP_002375;Note=In isoform 5. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->EVNTLAMPMATPPTPPTARPGASPTPAC;
Q06710	336	370	300	450	Alternative sequence	ID=VSP_002373;Note=In isoform 3. DPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->APPFWICSKSAPGSRPSMPFPMLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAW
Q06710	336	370	300	362	Alternative sequence	ID=VSP_002372;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1337742;Dbxref=PMID:1337742
Q06710	336	370	1	450	Chain	ID=PRO_0000050197;Note=Paired box protein Pax-8
Q06710	362	396	260	450	Alternative sequence	ID=VSP_002374;Note=In isoform 4. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->GERWWGPRCPDTHPTSPPADRAAMPPLPS
Q06710	362	396	260	450	Alternative sequence	ID=VSP_002375;Note=In isoform 5. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->EVNTLAMPMATPPTPPTARPGASPTPAC;
Q06710	362	396	300	450	Alternative sequence	ID=VSP_002373;Note=In isoform 3. DPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->APPFWICSKSAPGSRPSMPFPMLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAW
Q06710	362	396	300	362	Alternative sequence	ID=VSP_002372;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1337742;Dbxref=PMID:1337742
Q06710	362	396	1	450	Chain	ID=PRO_0000050197;Note=Paired box protein Pax-8
Q06710	396	425	260	450	Alternative sequence	ID=VSP_002374;Note=In isoform 4. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->GERWWGPRCPDTHPTSPPADRAAMPPLPS
Q06710	396	425	260	450	Alternative sequence	ID=VSP_002375;Note=In isoform 5. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->EVNTLAMPMATPPTPPTARPGASPTPAC;
Q06710	396	425	300	450	Alternative sequence	ID=VSP_002373;Note=In isoform 3. DPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->APPFWICSKSAPGSRPSMPFPMLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAW
Q06710	396	425	1	450	Chain	ID=PRO_0000050197;Note=Paired box protein Pax-8
Q06710	396	425	418	418	Sequence conflict	Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q06710	64	129	100	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	100	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	1	450	Chain	ID=PRO_0000050197;Note=Paired box protein Pax-8
Q06710	64	129	1	450	Chain	ID=PRO_0000050197;Note=Paired box protein Pax-8
Q06710	64	129	9	135	Domain	Note=Paired;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00381
Q06710	64	129	9	135	Domain	Note=Paired;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00381
Q06710	64	129	88	98	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	88	98	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	104	114	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	104	114	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	125	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	125	135	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	119	121	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	64	129	119	121	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2K27
Q06710	299	362	260	450	Alternative sequence	ID=VSP_002374;Note=In isoform 4. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->GERWWGPRCPDTHPTSPPADRAAMPPLPS
Q06710	299	362	260	450	Alternative sequence	ID=VSP_002375;Note=In isoform 5. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->EVNTLAMPMATPPTPPTARPGASPTPAC;
Q06710	299	362	300	450	Alternative sequence	ID=VSP_002373;Note=In isoform 3. DPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->APPFWICSKSAPGSRPSMPFPMLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAW
Q06710	299	362	300	362	Alternative sequence	ID=VSP_002372;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1337742;Dbxref=PMID:1337742
Q06710	299	362	1	450	Chain	ID=PRO_0000050197;Note=Paired box protein Pax-8
Q06710	299	362	315	327	Compositional bias	Note=Ser-rich
Q06710	299	362	303	303	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q00288
Q06710	299	362	329	329	Natural variant	ID=VAR_012773;Note=F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:1337742;Dbxref=dbSNP:rs3188996,PMID:1337742
Q06710	299	362	305	305	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q06710	299	362	322	322	Sequence conflict	Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q06710	336	370	260	450	Alternative sequence	ID=VSP_002374;Note=In isoform 4. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->GERWWGPRCPDTHPTSPPADRAAMPPLPS
Q06710	336	370	260	450	Alternative sequence	ID=VSP_002375;Note=In isoform 5. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->EVNTLAMPMATPPTPPTARPGASPTPAC;
Q06710	336	370	300	450	Alternative sequence	ID=VSP_002373;Note=In isoform 3. DPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->APPFWICSKSAPGSRPSMPFPMLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAW
Q06710	336	370	300	362	Alternative sequence	ID=VSP_002372;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1337742;Dbxref=PMID:1337742
Q06710	336	370	1	450	Chain	ID=PRO_0000050197;Note=Paired box protein Pax-8
Q06710	362	396	260	450	Alternative sequence	ID=VSP_002374;Note=In isoform 4. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->GERWWGPRCPDTHPTSPPADRAAMPPLPS
Q06710	362	396	260	450	Alternative sequence	ID=VSP_002375;Note=In isoform 5. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->EVNTLAMPMATPPTPPTARPGASPTPAC;
Q06710	362	396	300	450	Alternative sequence	ID=VSP_002373;Note=In isoform 3. DPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->APPFWICSKSAPGSRPSMPFPMLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAW
Q06710	362	396	300	362	Alternative sequence	ID=VSP_002372;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1337742;Dbxref=PMID:1337742
Q06710	362	396	1	450	Chain	ID=PRO_0000050197;Note=Paired box protein Pax-8
Q06710	396	425	260	450	Alternative sequence	ID=VSP_002374;Note=In isoform 4. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->GERWWGPRCPDTHPTSPPADRAAMPPLPS
Q06710	396	425	260	450	Alternative sequence	ID=VSP_002375;Note=In isoform 5. GLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->EVNTLAMPMATPPTPPTARPGASPTPAC;
Q06710	396	425	300	450	Alternative sequence	ID=VSP_002373;Note=In isoform 3. DPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL->APPFWICSKSAPGSRPSMPFPMLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAW
Q06710	396	425	1	450	Chain	ID=PRO_0000050197;Note=Paired box protein Pax-8
Q06710	396	425	418	418	Sequence conflict	Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for PAX8

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

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
COAD	TCGA-CK-5913-01	exon_skip_342787	113992971	113993080	113993069	113993069	Frame_Shift_Del	A	-	p.L330fs
COAD	TCGA-CK-5913-01	exon_skip_342790	113992971	113993159	113993069	113993069	Frame_Shift_Del	A	-	p.L330fs
LIHC	TCGA-DD-A39Y-01	exon_skip_342790	113992971	113993159	113993122	113993122	Frame_Shift_Del	G	-	p.P312fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_342790	113992971	113993159	113993122	113993122	Frame_Shift_Del	G	-	p.P312fs
STAD	TCGA-BR-8487-01	exon_skip_342790	113992971	113993159	113993122	113993122	Frame_Shift_Del	G	-	p.E313fs
STAD	TCGA-BR-8487-01	exon_skip_342790	113992971	113993159	113993122	113993122	Frame_Shift_Del	G	-	p.P312fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_342805 exon_skip_342795	113994178	113994298	113994231	113994231	Frame_Shift_Del	T	-	p.N282fs
COAD	TCGA-AZ-6601-01	exon_skip_342708	113984676	113984833	113984831	113984831	Nonsense_Mutation	G	A	p.R364X
COAD	TCGA-AZ-6601-01	exon_skip_342712 exon_skip_342713 exon_skip_342711	113984732	113984833	113984831	113984831	Nonsense_Mutation	G	A	p.R364X
CESC	TCGA-EK-A2RA-01	exon_skip_342787	113992971	113993080	113992973	113992973	Nonsense_Mutation	G	C	p.S362*
CESC	TCGA-EK-A2RA-01	exon_skip_342790	113992971	113993159	113992973	113992973	Nonsense_Mutation	G	C	p.S362*
BRCA	TCGA-AN-A0FK-01	exon_skip_342787	113992971	113993080	113993061	113993061	Nonsense_Mutation	G	A	p.Q333*
BRCA	TCGA-AN-A0FK-01	exon_skip_342790	113992971	113993159	113993061	113993061	Nonsense_Mutation	G	A	p.Q333*

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

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
2313287_STOMACH	113977669	113977755	113977718	113977718	Frame_Shift_Del	G	-	p.P409fs
OVTOKO_OVARY	113984676	113984833	113984792	113984792	Missense_Mutation	G	A	p.H377Y
OVTOKO_OVARY	113984732	113984833	113984792	113984792	Missense_Mutation	G	A	p.H377Y
MDAMB175VII_BREAST	113984676	113984833	113984823	113984823	Missense_Mutation	C	T	p.M366I
MDAMB175VII_BREAST	113984732	113984833	113984823	113984823	Missense_Mutation	C	T	p.M366I
EW8_BONE	113992971	113993080	113993009	113993009	Missense_Mutation	G	A	p.S350F
EW8_BONE	113992971	113993159	113993009	113993009	Missense_Mutation	G	A	p.S350F
RH1_SOFT_TISSUE	113992971	113993080	113993009	113993009	Missense_Mutation	G	A	p.S350F
RH1_SOFT_TISSUE	113992971	113993159	113993009	113993009	Missense_Mutation	G	A	p.S350F
VMRCLCD_LUNG	113992971	113993080	113993021	113993021	Missense_Mutation	G	A	p.P346L
VMRCLCD_LUNG	113992971	113993159	113993021	113993021	Missense_Mutation	G	A	p.P346L
MM383_SKIN	113992971	113993080	113993027	113993027	Missense_Mutation	G	A	p.A344V
MM383_SKIN	113992971	113993159	113993027	113993027	Missense_Mutation	G	A	p.A344V
SW837_LARGE_INTESTINE	113992971	113993080	113993046	113993046	Missense_Mutation	C	T	p.G338R
SW837_LARGE_INTESTINE	113992971	113993159	113993046	113993046	Missense_Mutation	C	T	p.G338R
SNU520_STOMACH	113992971	113993080	113993052	113993052	Missense_Mutation	C	A	p.G336C
SNU520_STOMACH	113992971	113993159	113993052	113993052	Missense_Mutation	C	A	p.G336C
SARC9371_BONE	113992971	113993159	113993096	113993096	Missense_Mutation	G	A	p.P321L
SARC9371_BONE	113992971	113993159	113993097	113993097	Missense_Mutation	G	A	p.P321S
HEC108_ENDOMETRIUM	113994178	113994298	113994181	113994181	Missense_Mutation	C	T	p.A299T
SUIT2_PANCREAS	113994178	113994298	113994207	113994207	Missense_Mutation	G	C	p.S290W
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	113994178	113994298	113994217	113994217	Missense_Mutation	G	A	p.R287C
OVMIU_OVARY	113994178	113994298	113994229	113994229	Missense_Mutation	T	A	p.T283S
ISTSL2_LUNG	113994178	113994298	113994259	113994259	Missense_Mutation	C	T	p.D273N
UACC893_BREAST	113994178	113994298	113994259	113994259	Missense_Mutation	C	T	p.D273N
SN12C_KIDNEY	114002004	114002201	114002013	114002013	Missense_Mutation	G	A	p.S127F
NCIH650_LUNG	114002004	114002201	114002022	114002022	Missense_Mutation	C	A	p.S124I
NCIH1155_LUNG	114002004	114002201	114002029	114002029	Missense_Mutation	C	T	p.V122M
HCC1569_BREAST	114002004	114002201	114002110	114002110	Missense_Mutation	A	G	p.Y95H
SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114002004	114002201	114002178	114002178	Missense_Mutation	C	T	p.R72Q

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAX8

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 PAX8

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAX8

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RelatedDrugs for PAX8

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 PAX8

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PAX8	C1869118	HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS	3	CTD_human;ORPHANET;UNIPROT
PAX8	C0009404	Colorectal Neoplasms	1	CTD_human
PAX8	C2931367	Thyroid cancer, follicular	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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