ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for TSC2

Gene summary

Gene information	Gene symbol	TSC2
	Gene ID	7249
	Gene name	TSC complex subunit 2
	Synonyms	LAM\|PPP1R160\|TSC4
	Cytomap	16p13.3
	Type of gene	protein-coding
	Description	tuberinprotein phosphatase 1, regulatory subunit 160tuberous sclerosis 2 protein
	Modification date	20200313
	UniProtAcc	A0A1V1FFQ4, A0A1V1FGH9, A0A1V1FI06, A0A1V1FK96, A0A1V1FNX1, A0A1V1FNX9, A0A1V1FR23, A0A1V1FTF4, A0A1V1FWL6, A0A1V1FWM5, A0A1V1G0D9, A0A1V1G0E9, A0A2R8Y5B2, A0A2R8Y5F1, A0A2R8Y670, A0A2R8Y692, A0A2R8Y6C9, A0A2R8Y7C8, A0A2R8Y7X5, A0A2R8YCR8, A0A2R8YDR3, A0A2R8YDZ2, A0A2R8YEJ8, A0A2R8YGD6, A0A2R8YGE6, A0A2R8YGU4, A0A2R8YHA2, A0A2Z3J2W5, A0A386NCL5, C9JX95, H3BMQ0, H3BQK4, H3BQY7, I3L134, I3L3B1, P49815, Q5HYF7, X5D2U8, X5D2X0, X5D7Q2, X5D7S4, X5D7T9, X5D7Z6, X5D9D6, X5D9F9, X5D9K3, X5D9P6, X5DP08, X5DP61, X5DRA7, X5DRC8,
	Context

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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Gene structures and expression levels for TSC2

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000103197

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
CB	UP	ENST00000642365.1	TSC2-228:protein_coding:TSC2	1.270941e+02	1.149419e+00	6.430255e-06	7.250464e-05
CB	DOWN	ENST00000642791.1	TSC2-231:retained_intron:TSC2	4.140372e+03	-8.491181e-01	1.115233e-05	1.155142e-04
CB	DOWN	ENST00000642728.1	TSC2-230:lncRNA:TSC2	2.247953e+00	-2.120197e+00	1.342177e-02	4.409887e-02
TC	DOWN	ENST00000568238.1	TSC2-220:retained_intron:TSC2	1.572189e+00	-1.375464e+00	1.611712e-04	2.355761e-03

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for TSC2

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_118138	chr16	2079276:2079428:2079557:2079669:2080165:2080377	2079557:2079669
exon_skip_132407	chr16	2083798:2083816:2084228:2084702:2084951:2085026	2084228:2084702
exon_skip_138869	chr16	2048043:2048065:2048587:2048753:2050400:2050486	2048587:2048753
exon_skip_178983	chr16	2050400:2050486:2053342:2053452:2054296:2054440	2053342:2053452
exon_skip_185812	chr16	2047980:2048065:2048587:2048753:2050400:2050486	2048587:2048753
exon_skip_194932	chr16	2050437:2050486:2053342:2053452:2054296:2054440	2053342:2053452
exon_skip_205363	chr16	2062583:2062600:2062972:2063053:2064272:2064427	2062972:2063053
exon_skip_208172	chr16	2057105:2057178:2058747:2058873:2060670:2060813	2058747:2058873
exon_skip_232897	chr16	2058747:2058873:2060670:2062008:2062497:2062524	2060670:2062008
exon_skip_238755	chr16	2087863:2087941:2088048:2088139:2088227:2088325	2088048:2088139
exon_skip_24893	chr16	2060726:2060813:2060953:2061039:2061871:2062008	2060953:2061039
exon_skip_252027	chr16	2081738:2081798:2082436:2082504:2083695:2083816	2082436:2082504
exon_skip_255967	chr16	2062518:2062600:2062972:2063053:2064272:2064427	2062972:2063053
exon_skip_264547	chr16	2058747:2058873:2060670:2062008:2062497:2062600	2060670:2062008
exon_skip_268423	chr16	2060670:2060813:2060953:2061039:2061871:2062008	2060953:2061039
exon_skip_283271	chr16	2084951:2085026:2085230:2085322:2086193:2086379	2085230:2085322
exon_skip_28434	chr16	2081595:2081798:2082436:2082504:2083695:2083816	2082436:2082504
exon_skip_32497	chr16	2083798:2083816:2084228:2084715:2084951:2085026	2084228:2084715
exon_skip_51188	chr16	2058747:2058873:2060670:2060813:2061871:2062008	2060670:2060813
exon_skip_59876	chr16	2084951:2085026:2085236:2085322:2086193:2086379	2085236:2085322
exon_skip_61745	chr16	2076491:2076585:2077598:2077726:2079035:2079196	2077598:2077726
exon_skip_77718	chr16	2065519:2065635:2068558:2068776:2070456:2070578	2068558:2068776
exon_skip_97173	chr16	2054296:2054440:2055402:2055519:2055980:2056244	2055402:2055519
exon_skip_97406	chr16	2081672:2081798:2082436:2082504:2083695:2083816	2082436:2082504
exon_skip_98599	chr16	2076491:2076585:2077598:2077726:2079032:2079196	2077598:2077726

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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Open reading frame (ORF) annotation in the exon skipping event for TSC2

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000219476	2048587	2048753	5CDS-5UTR
ENST00000219476	2062972	2063053	Frame-shift
ENST00000219476	2079557	2079669	Frame-shift
ENST00000219476	2084228	2084715	Frame-shift
ENST00000219476	2088048	2088139	Frame-shift
ENST00000219476	2053342	2053452	In-frame
ENST00000219476	2060670	2060813	In-frame
ENST00000219476	2077598	2077726	In-frame
ENST00000219476	2082436	2082504	In-frame
ENST00000219476	2085230	2085322	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000219476	2048587	2048753	5CDS-5UTR
ENST00000219476	2058747	2058873	Frame-shift
ENST00000219476	2053342	2053452	In-frame
ENST00000219476	2060670	2060813	In-frame
ENST00000219476	2077598	2077726	In-frame
ENST00000219476	2082436	2082504	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000219476	2048587	2048753	5CDS-5UTR
ENST00000219476	2062972	2063053	Frame-shift
ENST00000219476	2084228	2084715	Frame-shift
ENST00000219476	2088048	2088139	Frame-shift
ENST00000219476	2053342	2053452	In-frame
ENST00000219476	2060670	2060813	In-frame
ENST00000219476	2077598	2077726	In-frame
ENST00000219476	2082436	2082504	In-frame
ENST00000219476	2085230	2085322	In-frame

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Infer the effects of exon skipping event on protein functional features for TSC2

p-ENSG00000103197_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000219476	6181	1807	2053342	2053452	857	966	75	112
ENST00000219476	6181	1807	2060670	2060813	1607	1749	325	373
ENST00000219476	6181	1807	2077598	2077726	3469	3596	946	988
ENST00000219476	6181	1807	2082436	2082504	4446	4513	1272	1294
ENST00000219476	6181	1807	2085230	2085322	5201	5292	1523	1554

Loci of skipped exons in MSBB 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
ENST00000219476	6181	1807	2053342	2053452	857	966	75	112
ENST00000219476	6181	1807	2060670	2060813	1607	1749	325	373
ENST00000219476	6181	1807	2077598	2077726	3469	3596	946	988
ENST00000219476	6181	1807	2082436	2082504	4446	4513	1272	1294

Loci of skipped exons in Mayo 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
ENST00000219476	6181	1807	2053342	2053452	857	966	75	112
ENST00000219476	6181	1807	2060670	2060813	1607	1749	325	373
ENST00000219476	6181	1807	2077598	2077726	3469	3596	946	988
ENST00000219476	6181	1807	2082436	2082504	4446	4513	1272	1294
ENST00000219476	6181	1807	2085230	2085322	5201	5292	1523	1554

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

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
P49815	75	112	76	112	Alternative sequence	ID=VSP_038355;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P49815	75	112	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	75	112	94	94	Natural variant	ID=VAR_008019;Note=P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8789450;Dbxref=dbSNP:rs1051616,PMID:8789450
P49815	75	112	1	400	Region	Note=Required for interaction with TSC1
P49815	325	373	240	1807	Alternative sequence	ID=VSP_055897;Note=In isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:24722188;Dbxref=PMID:14702039,PMID:24722188
P49815	325	373	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	325	373	331	331	Natural variant	ID=VAR_008021;Note=In TSC2. N->K;Dbxref=dbSNP:rs45517153
P49815	325	373	361	361	Natural variant	ID=VAR_009426;Note=In TSC2. L->P;Dbxref=dbSNP:rs45517147
P49815	325	373	365	365	Natural variant	ID=VAR_009427;Note=In TSC2. Missing
P49815	325	373	367	367	Natural variant	ID=VAR_009428;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15595939;Dbxref=dbSNP:rs1800725,PMID:15595939
P49815	325	373	1	400	Region	Note=Required for interaction with TSC1
P49815	325	373	335	335	Sequence conflict	Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P49815	946	988	240	1807	Alternative sequence	ID=VSP_055897;Note=In isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:24722188;Dbxref=PMID:14702039,PMID:24722188
P49815	946	988	946	989	Alternative sequence	ID=VSP_004471;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.7;Dbxref=PMID:14702039
P49815	946	988	946	988	Alternative sequence	ID=VSP_004470;Note=In isoform 2%2C isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P49815	946	988	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	946	988	981	981	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
P49815	946	988	963	963	Natural variant	ID=VAR_009443;Note=In TSC2%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10570911;Dbxref=dbSNP:rs45517275,PMID:10570911
P49815	1272	1294	240	1807	Alternative sequence	ID=VSP_055897;Note=In isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:24722188;Dbxref=PMID:14702039,PMID:24722188
P49815	1272	1294	1272	1294	Alternative sequence	ID=VSP_004472;Note=In isoform 4%2C isoform 5%2C isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.7;Dbxref=PMID:14702039,PMID:15489334
P49815	1272	1294	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	1272	1294	1282	1282	Natural variant	ID=VAR_009444;Note=S->G;Dbxref=dbSNP:rs45446700
P49815	1523	1554	240	1807	Alternative sequence	ID=VSP_055897;Note=In isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:24722188;Dbxref=PMID:14702039,PMID:24722188
P49815	1523	1554	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	1523	1554	1531	1758	Domain	Note=Rap-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00165
P49815	1523	1554	1547	1547	Natural variant	ID=VAR_078847;Note=In FCORD2%3B somatic mutation%3B decreased function in negative regulation of TOR signaling%3B does not affect interaction with TSC1. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28215400;Dbxref=dbSNP:rs745895675,PMID:2821
P49815	1523	1554	1549	1549	Natural variant	ID=VAR_005661;Note=In TSC2. Y->C;Dbxref=dbSNP:rs45517355

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

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
P49815	75	112	76	112	Alternative sequence	ID=VSP_038355;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P49815	75	112	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	75	112	94	94	Natural variant	ID=VAR_008019;Note=P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8789450;Dbxref=dbSNP:rs1051616,PMID:8789450
P49815	75	112	1	400	Region	Note=Required for interaction with TSC1
P49815	325	373	240	1807	Alternative sequence	ID=VSP_055897;Note=In isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:24722188;Dbxref=PMID:14702039,PMID:24722188
P49815	325	373	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	325	373	331	331	Natural variant	ID=VAR_008021;Note=In TSC2. N->K;Dbxref=dbSNP:rs45517153
P49815	325	373	361	361	Natural variant	ID=VAR_009426;Note=In TSC2. L->P;Dbxref=dbSNP:rs45517147
P49815	325	373	365	365	Natural variant	ID=VAR_009427;Note=In TSC2. Missing
P49815	325	373	367	367	Natural variant	ID=VAR_009428;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15595939;Dbxref=dbSNP:rs1800725,PMID:15595939
P49815	325	373	1	400	Region	Note=Required for interaction with TSC1
P49815	325	373	335	335	Sequence conflict	Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P49815	946	988	240	1807	Alternative sequence	ID=VSP_055897;Note=In isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:24722188;Dbxref=PMID:14702039,PMID:24722188
P49815	946	988	946	989	Alternative sequence	ID=VSP_004471;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.7;Dbxref=PMID:14702039
P49815	946	988	946	988	Alternative sequence	ID=VSP_004470;Note=In isoform 2%2C isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P49815	946	988	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	946	988	981	981	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
P49815	946	988	963	963	Natural variant	ID=VAR_009443;Note=In TSC2%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10570911;Dbxref=dbSNP:rs45517275,PMID:10570911
P49815	1272	1294	240	1807	Alternative sequence	ID=VSP_055897;Note=In isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:24722188;Dbxref=PMID:14702039,PMID:24722188
P49815	1272	1294	1272	1294	Alternative sequence	ID=VSP_004472;Note=In isoform 4%2C isoform 5%2C isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.7;Dbxref=PMID:14702039,PMID:15489334
P49815	1272	1294	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	1272	1294	1282	1282	Natural variant	ID=VAR_009444;Note=S->G;Dbxref=dbSNP:rs45446700

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

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
P49815	75	112	76	112	Alternative sequence	ID=VSP_038355;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P49815	75	112	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	75	112	94	94	Natural variant	ID=VAR_008019;Note=P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8789450;Dbxref=dbSNP:rs1051616,PMID:8789450
P49815	75	112	1	400	Region	Note=Required for interaction with TSC1
P49815	325	373	240	1807	Alternative sequence	ID=VSP_055897;Note=In isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:24722188;Dbxref=PMID:14702039,PMID:24722188
P49815	325	373	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	325	373	331	331	Natural variant	ID=VAR_008021;Note=In TSC2. N->K;Dbxref=dbSNP:rs45517153
P49815	325	373	361	361	Natural variant	ID=VAR_009426;Note=In TSC2. L->P;Dbxref=dbSNP:rs45517147
P49815	325	373	365	365	Natural variant	ID=VAR_009427;Note=In TSC2. Missing
P49815	325	373	367	367	Natural variant	ID=VAR_009428;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15595939;Dbxref=dbSNP:rs1800725,PMID:15595939
P49815	325	373	1	400	Region	Note=Required for interaction with TSC1
P49815	325	373	335	335	Sequence conflict	Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P49815	946	988	240	1807	Alternative sequence	ID=VSP_055897;Note=In isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:24722188;Dbxref=PMID:14702039,PMID:24722188
P49815	946	988	946	989	Alternative sequence	ID=VSP_004471;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|Ref.7;Dbxref=PMID:14702039
P49815	946	988	946	988	Alternative sequence	ID=VSP_004470;Note=In isoform 2%2C isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P49815	946	988	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	946	988	981	981	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
P49815	946	988	963	963	Natural variant	ID=VAR_009443;Note=In TSC2%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10570911;Dbxref=dbSNP:rs45517275,PMID:10570911
P49815	1272	1294	240	1807	Alternative sequence	ID=VSP_055897;Note=In isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:24722188;Dbxref=PMID:14702039,PMID:24722188
P49815	1272	1294	1272	1294	Alternative sequence	ID=VSP_004472;Note=In isoform 4%2C isoform 5%2C isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.7;Dbxref=PMID:14702039,PMID:15489334
P49815	1272	1294	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	1272	1294	1282	1282	Natural variant	ID=VAR_009444;Note=S->G;Dbxref=dbSNP:rs45446700
P49815	1523	1554	240	1807	Alternative sequence	ID=VSP_055897;Note=In isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:24722188;Dbxref=PMID:14702039,PMID:24722188
P49815	1523	1554	1	1807	Chain	ID=PRO_0000065654;Note=Tuberin
P49815	1523	1554	1531	1758	Domain	Note=Rap-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00165
P49815	1523	1554	1547	1547	Natural variant	ID=VAR_078847;Note=In FCORD2%3B somatic mutation%3B decreased function in negative regulation of TOR signaling%3B does not affect interaction with TSC1. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28215400;Dbxref=dbSNP:rs745895675,PMID:2821
P49815	1523	1554	1549	1549	Natural variant	ID=VAR_005661;Note=In TSC2. Y->C;Dbxref=dbSNP:rs45517355

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3'-UTR located exon skipping events that lost miRNA binding sites in TSC2

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for TSC2

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for TSC2

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TSC2

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for TSC2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
IFG	TARDBP	exon_skip_98599	6.131864e-01	2.408985e-03
IFG	RBM5	exon_skip_98599	4.717710e-01	2.664688e-02
IFG	PCBP2	exon_skip_98599	6.021746e-01	3.022704e-03
IFG	SNRPA	exon_skip_98599	4.403922e-01	4.024360e-02
IFG	SNRNP70	exon_skip_98599	5.048066e-01	1.657093e-02
IFG	RBM23	exon_skip_98599	5.181367e-01	1.350306e-02
IFG	PCBP2	exon_skip_61745	4.649293e-01	1.919482e-02
TC	RBM6	exon_skip_98599	4.098423e-01	1.185620e-07
TC	RALYL	exon_skip_97406	6.105424e-01	1.020728e-17

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RelatedDrugs for TSC2

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for TSC2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for TSC2

Gene structures and expression levels for TSC2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for TSC2

Open reading frame (ORF) annotation in the exon skipping event for TSC2

Infer the effects of exon skipping event on protein functional features for TSC2

3'-UTR located exon skipping events that lost miRNA binding sites in TSC2

SNVs in the skipped exons for TSC2

AD stage-associated exon skippint events for TSC2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TSC2

Correlation with RNA binding proteins (RBPs) for TSC2

RelatedDrugs for TSC2

RelatedDiseases for TSC2