ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ATXN2

Gene summary

Gene information	Gene symbol	ATXN2
	Gene ID	6311
	Gene name	ataxin 2
	Synonyms	ATX2\|SCA2\|TNRC13
	Cytomap	12q24.12
	Type of gene	protein-coding
	Description	ataxin-2spinocerebellar ataxia type 2 proteintrinucleotide repeat-containing gene 13 protein
	Modification date	20180523
	UniProtAcc	Q99700
	Context	PubMed: ATXN2 [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 ATXN2 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 ATXN2

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 ATXN2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_96453	12	111890557:111890644:111891480:111891649:111893832:111893916	111891480:111891649	ENSG00000204842.10	ENST00000389153.4,ENST00000483311.1,ENST00000377617.3,ENST00000608853.1,ENST00000550104.1,ENST00000535949.1
exon_skip_96457	12	111890557:111890644:111893832:111894060:111895017:111895163	111893832:111894060	ENSG00000204842.10	ENST00000389154.3
exon_skip_96458	12	111891480:111891649:111892848:111892923:111893832:111893916	111892848:111892923	ENSG00000204842.10	ENST00000542287.2
exon_skip_96460	12	111891480:111891649:111893832:111894060:111895017:111895163	111893832:111894060	ENSG00000204842.10	ENST00000389153.4,ENST00000483311.1,ENST00000377617.3,ENST00000608853.1,ENST00000550104.1,ENST00000535949.1
exon_skip_96461	12	111894024:111894060:111895017:111895163:111907911:111908044	111895017:111895163	ENSG00000204842.10	ENST00000550889.1,ENST00000482777.1,ENST00000535949.1
exon_skip_96466	12	111895017:111895163:111902465:111902519:111907911:111908044	111902465:111902519	ENSG00000204842.10	ENST00000389153.4,ENST00000483311.1,ENST00000377617.3,ENST00000542287.2,ENST00000389154.3,ENST00000608853.1,ENST00000550844.1,ENST00000550104.1
exon_skip_96467	12	111895017:111895163:111907911:111908044:111908361:111908364	111907911:111908044	ENSG00000204842.10	ENST00000550889.1,ENST00000482777.1,ENST00000535949.1
exon_skip_96476	12	111908361:111908546:111920590:111920635:111923074:111923135	111920590:111920635	ENSG00000204842.10	ENST00000551755.2
exon_skip_96477	12	111908361:111908546:111923068:111923135:111923516:111923654	111923068:111923135	ENSG00000204842.10	ENST00000389153.4,ENST00000495342.1,ENST00000389154.3
exon_skip_96478	12	111908361:111908546:111923074:111923135:111923516:111923654	111923074:111923135	ENSG00000204842.10	ENST00000377617.3,ENST00000542287.2,ENST00000608853.1,ENST00000535949.1
exon_skip_96484	12	111923516:111923669:111924564:111924628:111926279:111926416	111924564:111924628	ENSG00000204842.10	ENST00000389153.4,ENST00000483311.1,ENST00000377617.3,ENST00000542287.2,ENST00000608853.1,ENST00000550104.1,ENST00000535949.1
exon_skip_96485	12	111924564:111924628:111926279:111926584:111947352:111947423	111926279:111926584	ENSG00000204842.10	ENST00000389153.4,ENST00000483311.1,ENST00000377617.3,ENST00000542287.2,ENST00000608853.1,ENST00000550104.1,ENST00000535949.1
exon_skip_96489	12	111947722:111947802:111948188:111948386:111951160:111951343	111948188:111948386	ENSG00000204842.10	ENST00000389153.4,ENST00000483311.1,ENST00000377617.3,ENST00000542287.2,ENST00000608853.1,ENST00000550104.1,ENST00000535949.1
exon_skip_96491	12	111951277:111951343:111953957:111954167:111956052:111956231	111953957:111954167	ENSG00000204842.10	ENST00000389153.4,ENST00000483311.1,ENST00000377617.3,ENST00000542287.2,ENST00000392645.2,ENST00000608853.1,ENST00000550104.1,ENST00000535949.1
exon_skip_96494	12	111951277:111951343:111956052:111956231:111957682:111957880	111956052:111956231	ENSG00000204842.10	ENST00000550236.1
exon_skip_96498	12	111953957:111954167:111956052:111956231:111957682:111957880	111956052:111956231	ENSG00000204842.10	ENST00000389153.4,ENST00000483311.1,ENST00000377617.3,ENST00000542287.2,ENST00000392645.2,ENST00000608853.1,ENST00000550104.1,ENST00000535949.1
exon_skip_96499	12	111956052:111956231:111957682:111957880:111958685:111958749	111957682:111957880	ENSG00000204842.10	ENST00000389153.4,ENST00000550236.1,ENST00000483311.1,ENST00000377617.3,ENST00000542287.2,ENST00000392645.2,ENST00000608853.1,ENST00000550104.1,ENST00000535949.1
exon_skip_96500	12	111962995:111963120:111990083:111990234:111991961:111992021	111990083:111990234	ENSG00000204842.10	ENST00000535949.1
exon_skip_96502	12	111990083:111990234:111990709:111990781:111991961:111992021	111990709:111990781	ENSG00000204842.10	ENST00000389153.4,ENST00000483311.1,ENST00000377617.3,ENST00000542287.2,ENST00000392645.2,ENST00000608853.1,ENST00000550104.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ATXN2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_96453	12	111890557:111890644:111891480:111891649:111893832:111893916	111891480:111891649	ENSG00000204842.10	ENST00000389153.4,ENST00000608853.1,ENST00000377617.3,ENST00000550104.1,ENST00000483311.1,ENST00000535949.1
exon_skip_96457	12	111890557:111890644:111893832:111894060:111895017:111895163	111893832:111894060	ENSG00000204842.10	ENST00000389154.3
exon_skip_96458	12	111891480:111891649:111892848:111892923:111893832:111893916	111892848:111892923	ENSG00000204842.10	ENST00000542287.2
exon_skip_96460	12	111891480:111891649:111893832:111894060:111895017:111895163	111893832:111894060	ENSG00000204842.10	ENST00000389153.4,ENST00000608853.1,ENST00000377617.3,ENST00000550104.1,ENST00000483311.1,ENST00000535949.1
exon_skip_96461	12	111894024:111894060:111895017:111895163:111907911:111908044	111895017:111895163	ENSG00000204842.10	ENST00000482777.1,ENST00000535949.1,ENST00000550889.1
exon_skip_96466	12	111895017:111895163:111902465:111902519:111907911:111908044	111902465:111902519	ENSG00000204842.10	ENST00000389154.3,ENST00000389153.4,ENST00000608853.1,ENST00000377617.3,ENST00000550104.1,ENST00000483311.1,ENST00000542287.2,ENST00000550844.1
exon_skip_96467	12	111895017:111895163:111907911:111908044:111908361:111908364	111907911:111908044	ENSG00000204842.10	ENST00000482777.1,ENST00000535949.1,ENST00000550889.1
exon_skip_96476	12	111908361:111908546:111920590:111920635:111923074:111923135	111920590:111920635	ENSG00000204842.10	ENST00000551755.2
exon_skip_96477	12	111908361:111908546:111923068:111923135:111923516:111923654	111923068:111923135	ENSG00000204842.10	ENST00000389154.3,ENST00000389153.4,ENST00000495342.1
exon_skip_96478	12	111908361:111908546:111923074:111923135:111923516:111923654	111923074:111923135	ENSG00000204842.10	ENST00000608853.1,ENST00000377617.3,ENST00000535949.1,ENST00000542287.2
exon_skip_96484	12	111923516:111923669:111924564:111924628:111926279:111926416	111924564:111924628	ENSG00000204842.10	ENST00000389153.4,ENST00000608853.1,ENST00000377617.3,ENST00000550104.1,ENST00000483311.1,ENST00000535949.1,ENST00000542287.2
exon_skip_96485	12	111924564:111924628:111926279:111926584:111947352:111947423	111926279:111926584	ENSG00000204842.10	ENST00000389153.4,ENST00000608853.1,ENST00000377617.3,ENST00000550104.1,ENST00000483311.1,ENST00000535949.1,ENST00000542287.2
exon_skip_96489	12	111947722:111947802:111948188:111948386:111951160:111951343	111948188:111948386	ENSG00000204842.10	ENST00000389153.4,ENST00000608853.1,ENST00000377617.3,ENST00000550104.1,ENST00000483311.1,ENST00000535949.1,ENST00000542287.2
exon_skip_96491	12	111951277:111951343:111953957:111954167:111956052:111956231	111953957:111954167	ENSG00000204842.10	ENST00000389153.4,ENST00000608853.1,ENST00000377617.3,ENST00000550104.1,ENST00000483311.1,ENST00000535949.1,ENST00000542287.2,ENST00000392645.2
exon_skip_96494	12	111951277:111951343:111956052:111956231:111957682:111957880	111956052:111956231	ENSG00000204842.10	ENST00000550236.1
exon_skip_96498	12	111953957:111954167:111956052:111956231:111957682:111957880	111956052:111956231	ENSG00000204842.10	ENST00000389153.4,ENST00000608853.1,ENST00000377617.3,ENST00000550104.1,ENST00000483311.1,ENST00000535949.1,ENST00000542287.2,ENST00000392645.2
exon_skip_96499	12	111956052:111956231:111957682:111957880:111958685:111958749	111957682:111957880	ENSG00000204842.10	ENST00000389153.4,ENST00000608853.1,ENST00000377617.3,ENST00000550104.1,ENST00000483311.1,ENST00000535949.1,ENST00000542287.2,ENST00000550236.1,ENST00000392645.2
exon_skip_96500	12	111962995:111963120:111990083:111990234:111991961:111992021	111990083:111990234	ENSG00000204842.10	ENST00000535949.1
exon_skip_96502	12	111990083:111990234:111990709:111990781:111991961:111992021	111990709:111990781	ENSG00000204842.10	ENST00000389153.4,ENST00000608853.1,ENST00000377617.3,ENST00000550104.1,ENST00000483311.1,ENST00000542287.2,ENST00000392645.2

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 ATXN2

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
ENST00000550104	111891480	111891649	5UTR-5UTR
ENST00000550104	111893832	111894060	5UTR-5UTR
ENST00000550104	111902465	111902519	5UTR-5UTR
ENST00000377617	111891480	111891649	Frame-shift
ENST00000377617	111923074	111923135	Frame-shift
ENST00000377617	111924564	111924628	Frame-shift
ENST00000550104	111924564	111924628	Frame-shift
ENST00000377617	111926279	111926584	Frame-shift
ENST00000550104	111926279	111926584	Frame-shift
ENST00000377617	111956052	111956231	Frame-shift
ENST00000550104	111956052	111956231	Frame-shift
ENST00000377617	111893832	111894060	In-frame
ENST00000377617	111902465	111902519	In-frame
ENST00000377617	111948188	111948386	In-frame
ENST00000550104	111948188	111948386	In-frame
ENST00000377617	111953957	111954167	In-frame
ENST00000550104	111953957	111954167	In-frame
ENST00000377617	111957682	111957880	In-frame
ENST00000550104	111957682	111957880	In-frame
ENST00000377617	111990709	111990781	In-frame
ENST00000550104	111990709	111990781	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
ENST00000550104	111891480	111891649	5UTR-5UTR
ENST00000550104	111893832	111894060	5UTR-5UTR
ENST00000550104	111902465	111902519	5UTR-5UTR
ENST00000377617	111891480	111891649	Frame-shift
ENST00000377617	111923074	111923135	Frame-shift
ENST00000377617	111924564	111924628	Frame-shift
ENST00000550104	111924564	111924628	Frame-shift
ENST00000377617	111926279	111926584	Frame-shift
ENST00000550104	111926279	111926584	Frame-shift
ENST00000377617	111956052	111956231	Frame-shift
ENST00000550104	111956052	111956231	Frame-shift
ENST00000377617	111893832	111894060	In-frame
ENST00000377617	111902465	111902519	In-frame
ENST00000377617	111948188	111948386	In-frame
ENST00000550104	111948188	111948386	In-frame
ENST00000377617	111953957	111954167	In-frame
ENST00000550104	111953957	111954167	In-frame
ENST00000377617	111957682	111957880	In-frame
ENST00000550104	111957682	111957880	In-frame
ENST00000377617	111990709	111990781	In-frame
ENST00000550104	111990709	111990781	In-frame

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Infer the effects of exon skipping event on protein functional features for ATXN2

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
ENST00000377617	4719	1313	111990709	111990781	991	1062	276	300
ENST00000550104	4604	1313	111990709	111990781	991	1062	276	300
ENST00000377617	4719	1313	111957682	111957880	1431	1628	423	488
ENST00000550104	4604	1313	111957682	111957880	1431	1628	423	488
ENST00000377617	4719	1313	111953957	111954167	1808	2017	548	618
ENST00000550104	4604	1313	111953957	111954167	1808	2017	548	618
ENST00000377617	4719	1313	111948188	111948386	2201	2398	679	745
ENST00000550104	4604	1313	111948188	111948386	2201	2398	679	745
ENST00000377617	4719	1313	111902465	111902519	3479	3532	1105	1123
ENST00000377617	4719	1313	111893832	111894060	3679	3906	1172	1248

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
ENST00000377617	4719	1313	111990709	111990781	991	1062	276	300
ENST00000550104	4604	1313	111990709	111990781	991	1062	276	300
ENST00000377617	4719	1313	111957682	111957880	1431	1628	423	488
ENST00000550104	4604	1313	111957682	111957880	1431	1628	423	488
ENST00000377617	4719	1313	111953957	111954167	1808	2017	548	618
ENST00000550104	4604	1313	111953957	111954167	1808	2017	548	618
ENST00000377617	4719	1313	111948188	111948386	2201	2398	679	745
ENST00000550104	4604	1313	111948188	111948386	2201	2398	679	745
ENST00000377617	4719	1313	111902465	111902519	3479	3532	1105	1123
ENST00000377617	4719	1313	111893832	111894060	3679	3906	1172	1248

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
Q99700	276	300	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	276	300	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	276	300	277	300	Alternative sequence	ID=VSP_057286;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q99700	276	300	277	300	Alternative sequence	ID=VSP_057286;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q99700	276	300	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	276	300	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	423	488	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	423	488	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	423	488	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	423	488	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	423	488	466	466	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q99700	423	488	466	466	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q99700	423	488	478	478	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q99700	423	488	478	478	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q99700	548	618	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	548	618	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	548	618	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	548	618	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	548	618	551	734	Compositional bias	Note=Pro-rich
Q99700	548	618	551	734	Compositional bias	Note=Pro-rich
Q99700	548	618	554	554	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q99700	548	618	554	554	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q99700	679	745	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	679	745	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	679	745	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	679	745	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	679	745	551	734	Compositional bias	Note=Pro-rich
Q99700	679	745	551	734	Compositional bias	Note=Pro-rich
Q99700	679	745	684	684	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID
Q99700	679	745	684	684	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID
Q99700	679	745	728	728	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q99700	679	745	728	728	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q99700	679	745	741	741	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q99700	679	745	741	741	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q99700	1105	1123	996	1313	Alternative sequence	ID=VSP_011577;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8896557;Dbxref=PMID:8896557
Q99700	1105	1123	1106	1124	Alternative sequence	ID=VSP_057287;Note=In isoform 5. ACPKLPYNKETSPSFYFAI->V;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q99700	1105	1123	1106	1123	Alternative sequence	ID=VSP_011578;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	1105	1123	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	1172	1248	996	1313	Alternative sequence	ID=VSP_011577;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8896557;Dbxref=PMID:8896557
Q99700	1172	1248	1244	1313	Alternative sequence	ID=VSP_011582;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99700	1172	1248	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2

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
Q99700	276	300	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	276	300	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	276	300	277	300	Alternative sequence	ID=VSP_057286;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q99700	276	300	277	300	Alternative sequence	ID=VSP_057286;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q99700	276	300	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	276	300	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	423	488	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	423	488	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	423	488	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	423	488	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	423	488	466	466	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q99700	423	488	466	466	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q99700	423	488	478	478	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q99700	423	488	478	478	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q99700	548	618	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	548	618	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	548	618	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	548	618	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	548	618	551	734	Compositional bias	Note=Pro-rich
Q99700	548	618	551	734	Compositional bias	Note=Pro-rich
Q99700	548	618	554	554	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q99700	548	618	554	554	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q99700	679	745	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	679	745	1	981	Alternative sequence	ID=VSP_011574;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	679	745	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	679	745	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	679	745	551	734	Compositional bias	Note=Pro-rich
Q99700	679	745	551	734	Compositional bias	Note=Pro-rich
Q99700	679	745	684	684	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID
Q99700	679	745	684	684	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID
Q99700	679	745	728	728	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q99700	679	745	728	728	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
Q99700	679	745	741	741	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q99700	679	745	741	741	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q99700	1105	1123	996	1313	Alternative sequence	ID=VSP_011577;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8896557;Dbxref=PMID:8896557
Q99700	1105	1123	1106	1124	Alternative sequence	ID=VSP_057287;Note=In isoform 5. ACPKLPYNKETSPSFYFAI->V;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q99700	1105	1123	1106	1123	Alternative sequence	ID=VSP_011578;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q99700	1105	1123	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2
Q99700	1172	1248	996	1313	Alternative sequence	ID=VSP_011577;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8896557;Dbxref=PMID:8896557
Q99700	1172	1248	1244	1313	Alternative sequence	ID=VSP_011582;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99700	1172	1248	1	1313	Chain	ID=PRO_0000064756;Note=Ataxin-2

Top

SNVs in the skipped exons for ATXN2

- 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.

ATXN2_LIHC_exon_skip_96453_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
LIHC	TCGA-DD-A3A0-01	exon_skip_96453	111891481	111891649	111891500	111891500	Frame_Shift_Del	G	-	p.P1298fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_96453	111891481	111891649	111891500	111891500	Frame_Shift_Del	G	-	p.P1298fs
STAD	TCGA-HU-A4GX-01	exon_skip_96467	111907912	111908044	111907939	111907939	Frame_Shift_Del	C	-	p.A1097fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_96485	111926280	111926584	111926535	111926535	Frame_Shift_Del	T	-	p.N822fs
LIHC	TCGA-DD-A39Y-01	exon_skip_96489	111948189	111948386	111948366	111948366	Frame_Shift_Del	T	-	p.T687fs
STAD	TCGA-BR-8078-01	exon_skip_96491	111953958	111954167	111954046	111954046	Frame_Shift_Del	G	-	p.P589fs
STAD	TCGA-BR-8078-01	exon_skip_96491	111953958	111954167	111954046	111954046	Frame_Shift_Del	G	-	p.S590fs
UCEC	TCGA-BS-A0U7-01	exon_skip_96499	111957683	111957880	111957739	111957739	Frame_Shift_Del	T	-	p.K470fs
STAD	TCGA-FP-A4BE-01	exon_skip_96500	111990084	111990234	111990087	111990087	Frame_Shift_Del	T	-	p.R350fs
BLCA	TCGA-UY-A9PE-01	exon_skip_96460 exon_skip_96457	111893833	111894060	111893835	111893835	Nonsense_Mutation	G	A	p.Q1248*
GBM	TCGA-19-2624-01	exon_skip_96461	111895018	111895163	111895056	111895056	Nonsense_Mutation	G	A	p.Q1160*
DLBC	TCGA-GR-7353-01	exon_skip_96467	111907912	111908044	111907956	111907956	Nonsense_Mutation	G	C	p.S1091X
THYM	TCGA-5U-AB0D-01	exon_skip_96491	111953958	111954167	111954145	111954145	Nonsense_Mutation	G	T	p.C556X
BLCA	TCGA-DK-A2I4-01	exon_skip_96499	111957683	111957880	111957800	111957800	Nonsense_Mutation	G	C	p.S450*
KIRP	TCGA-B9-5155-01	exon_skip_96461	111895018	111895163	111895017	111895017	Splice_Site	C	G	.
BLCA	TCGA-FD-A3SL-01	exon_skip_96491	111953958	111954167	111953957	111953957	Splice_Site	C	T	p.G619_splice
LUSC	TCGA-60-2721-01	exon_skip_96499	111957683	111957880	111957681	111957681	Splice_Site	A	T	p.R489_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_96485
	Skipped exon start: 111926280
	Skipped exon end: 111926584
	Mutation start: 111926535
	Mutation end: 111926535
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.N822fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_96453
	Skipped exon start: 111891481
	Skipped exon end: 111891649
	Mutation start: 111891500
	Mutation end: 111891500
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P1298fs
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106524_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109529_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109778_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11289_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11349_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113898_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11611_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11615_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11638_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11641_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11926_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11937_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11939_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124065_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124066_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126833_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126836_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1268_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1270_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_127101_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1274_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_128729_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_129795_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_129799_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_131401_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_131474_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_135545_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_135553_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_13626_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_138373_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_138676_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_141657_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_143515_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_143728_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_14564_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_149490_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_153354_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1873_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1874_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_24442_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_284510_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_289275_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_289905_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_291218_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_293221_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_293223_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_300058_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_300676_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_302253_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_302693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_305815_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_30789_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_30792_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309404_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309486_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309505_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309539_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_311823_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_313290_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_315285_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_315286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_316122_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_325693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327441_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327550_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329666_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_331517_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354387_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354396_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_356468_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365023_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_371589_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_375393_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_380574_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382000_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382738_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_385031_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_387684_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421130_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421131_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421134_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_426528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_426530_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_427391_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_430528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433436_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433655_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_434375_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_43567_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436327_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_444593_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_445559_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_447600_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_452739_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_4535_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_457245_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_45824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464169_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464999_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_466343_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_467017_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_468347_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_470485_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_478117_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483502_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483622_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_492152_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_499409_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_502144_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504288_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504556_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506095_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506097_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507316_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507513_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_55516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57597_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57603_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5818_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5861_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_58894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_59476_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_60476_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_67293_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_67402_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_69019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_71100_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_73796_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_84528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86050_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86051_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86135_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_87721_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_93891_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_94866_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_96453_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_98550_LIHC_TCGA-G3-A3CJ-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
IGROV1_OVARY	111948189	111948386	111948294	111948294	Frame_Shift_Del	G	-	p.Q711fs
NBSUSSR_AUTONOMIC_GANGLIA	111907912	111908044	111907956	111907958	In_Frame_Del	GAA	-	p.1090_1091SS>S
IGROV1_OVARY	111891481	111891649	111891492	111891492	Missense_Mutation	G	A	p.T1301M
NCIH513_PLEURA	111893833	111894060	111893880	111893880	Missense_Mutation	C	G	p.V1233L
NCIH508_LARGE_INTESTINE	111893833	111894060	111893984	111893984	Missense_Mutation	A	G	p.L1198P
RKO_LARGE_INTESTINE	111893833	111894060	111894033	111894033	Missense_Mutation	G	C	p.L1182V
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	111895018	111895163	111895040	111895040	Missense_Mutation	T	C	p.H1165R
SNU1040_LARGE_INTESTINE	111895018	111895163	111895133	111895133	Missense_Mutation	G	A	p.A1134V
GP2D_LARGE_INTESTINE	111895018	111895163	111895157	111895157	Missense_Mutation	G	A	p.T1126M
GP5D_LARGE_INTESTINE	111895018	111895163	111895157	111895157	Missense_Mutation	G	A	p.T1126M
HEC59_ENDOMETRIUM	111907912	111908044	111907981	111907981	Missense_Mutation	C	T	p.A1083T
WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111923069	111923135	111923119	111923119	Missense_Mutation	G	A	p.P985L
WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111923075	111923135	111923119	111923119	Missense_Mutation	G	A	p.P985L
PANC1005_PANCREAS	111926280	111926584	111926409	111926409	Missense_Mutation	A	G	p.I864T
CW2_LARGE_INTESTINE	111926280	111926584	111926409	111926409	Missense_Mutation	A	G	p.I864T
SNU1040_LARGE_INTESTINE	111926280	111926584	111926427	111926427	Missense_Mutation	T	G	p.K858T
COLO679_SKIN	111926280	111926584	111926517	111926517	Missense_Mutation	G	A	p.S828L
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111926280	111926584	111926528	111926528	Missense_Mutation	C	A	p.E824D
LAMA84_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111926280	111926584	111926530	111926530	Missense_Mutation	C	T	p.E824K
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111948189	111948386	111948207	111948207	Missense_Mutation	C	A	p.V740F
EN_ENDOMETRIUM	111948189	111948386	111948285	111948285	Missense_Mutation	T	C	p.I714V
SKLU1_LUNG	111948189	111948386	111948329	111948329	Missense_Mutation	C	A	p.G699V
HCC2218_BREAST	111948189	111948386	111948363	111948363	Missense_Mutation	G	T	p.H688N
RKO_LARGE_INTESTINE	111953958	111954167	111954029	111954029	Missense_Mutation	G	T	p.P595H
MZ7MEL_SKIN	111953958	111954167	111954101	111954101	Missense_Mutation	G	A	p.P571L
UBLC1_URINARY_TRACT	111956053	111956231	111956074	111956074	Missense_Mutation	C	G	p.D542H
BICR18_UPPER_AERODIGESTIVE_TRACT	111956053	111956231	111956083	111956083	Missense_Mutation	A	C	p.S539A
SKMEL30_SKIN	111956053	111956231	111956136	111956136	Missense_Mutation	G	A	p.S521L
SKN_ENDOMETRIUM	111956053	111956231	111956144	111956144	Missense_Mutation	C	A	p.Q518H
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111957683	111957880	111957708	111957708	Missense_Mutation	G	A	p.R481C
CL34_LARGE_INTESTINE	111957683	111957880	111957863	111957863	Missense_Mutation	T	C	p.D429G
NCIH1563_LUNG	111893833	111894060	111894060	111894060	Splice_Site	G	A	p.H1173Y
HCC1569_BREAST	111923069	111923135	111923134	111923134	Splice_Site	G	T	p.P980H
HCC1569_BREAST	111923075	111923135	111923134	111923134	Splice_Site	G	T	p.P980H
YD8_UPPER_AERODIGESTIVE_TRACT	111926280	111926584	111926281	111926281	Splice_Site	C	A	p.E907*
HT115_LARGE_INTESTINE	111957683	111957880	111957879	111957879	Splice_Site	C	A	p.V424L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATXN2

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 ATXN2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATXN2

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RelatedDrugs for ATXN2

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 ATXN2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ATXN2	C0087012	Ataxia, Spinocerebellar	2	CTD_human
ATXN2	C0036341	Schizophrenia	1	PSYGENET
ATXN2	C0339573	Glaucoma, Primary Open Angle	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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