ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TOM1L2

Gene summary

Gene information	Gene symbol	TOM1L2
	Gene ID	146691
	Gene name	target of myb1 like 2 membrane trafficking protein
	Synonyms	-
	Cytomap	17p11.2
	Type of gene	protein-coding
	Description	TOM1-like protein 2target of Myb-like protein 2target of myb1-like 2
	Modification date	20180519
	UniProtAcc	Q6ZVM7
	Context	PubMed: TOM1L2 [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
TOM1L2	GO:0007165	signal transduction	16479011
TOM1L2	GO:0045839	negative regulation of mitotic nuclear division	16479011

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Exon skipping events across known transcript of Ensembl for TOM1L2 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 TOM1L2

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 TOM1L2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_287073	17	17750882:17751097:17752136:17752173:17754206:17754266	17752136:17752173	ENSG00000175662.13	ENST00000395739.4,ENST00000581396.1,ENST00000535933.1,ENST00000318094.10,ENST00000486413.1,ENST00000542206.1,ENST00000379504.3,ENST00000478943.1
exon_skip_287074	17	17750882:17751097:17752136:17752173:17764789:17764865	17752136:17752173	ENSG00000175662.13	ENST00000540946.1
exon_skip_287081	17	17752136:17752173:17754206:17754266:17764789:17764865	17754206:17754266	ENSG00000175662.13	ENST00000395739.4,ENST00000581396.1,ENST00000318094.10,ENST00000379504.3,ENST00000478943.1
exon_skip_287086	17	17752136:17752173:17764789:17764865:17766044:17766094	17764789:17764865	ENSG00000175662.13	ENST00000540946.1
exon_skip_287090	17	17754206:17754266:17761082:17761169:17764789:17764865	17761082:17761169	ENSG00000175662.13	ENST00000535933.1,ENST00000542206.1
exon_skip_287092	17	17754206:17754266:17764789:17764865:17766044:17766094	17764789:17764865	ENSG00000175662.13	ENST00000395739.4,ENST00000581396.1,ENST00000318094.10,ENST00000379504.3,ENST00000478943.1
exon_skip_287098	17	17769609:17769733:17770189:17770238:17772653:17772787	17770189:17770238	ENSG00000175662.13	ENST00000395739.4,ENST00000581396.1,ENST00000540946.1,ENST00000535933.1,ENST00000318094.10,ENST00000577517.1,ENST00000542206.1,ENST00000379504.3,ENST00000478943.1
exon_skip_287100	17	17782940:17783057:17786018:17786177:17787947:17788082	17786018:17786177	ENSG00000175662.13	ENST00000581396.1,ENST00000537091.2,ENST00000379504.3
exon_skip_287101	17	17782940:17783057:17786018:17786177:17796974:17797124	17786018:17786177	ENSG00000175662.13	ENST00000395739.4,ENST00000318094.10
exon_skip_287104	17	17782940:17783057:17787947:17788082:17796974:17797124	17787947:17788082	ENSG00000175662.13	ENST00000535933.1
exon_skip_287107	17	17782940:17783057:17796974:17797124:17801909:17801988	17796974:17797124	ENSG00000175662.13	ENST00000540946.1
exon_skip_287109	17	17786018:17786177:17787947:17788082:17796974:17797124	17787947:17788082	ENSG00000175662.13	ENST00000379504.3
exon_skip_287110	17	17786018:17786177:17787947:17788082:17801909:17801988	17787947:17788082	ENSG00000175662.13	ENST00000581396.1,ENST00000537091.2
exon_skip_287112	17	17786018:17786177:17796974:17797124:17801909:17801988	17796974:17797124	ENSG00000175662.13	ENST00000395739.4,ENST00000318094.10
exon_skip_287114	17	17787947:17788082:17796974:17797124:17801909:17801988	17796974:17797124	ENSG00000175662.13	ENST00000535933.1,ENST00000379504.3
exon_skip_287116	17	17801927:17801988:17810760:17810840:17875575:17875736	17810760:17810840	ENSG00000175662.13	ENST00000579586.1
exon_skip_287117	17	17801927:17801988:17810760:17810845:17875575:17875711	17810760:17810845	ENSG00000175662.13	ENST00000395739.4,ENST00000537091.2,ENST00000540946.1,ENST00000535933.1,ENST00000318094.10,ENST00000542206.1,ENST00000379504.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TOM1L2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_287073	17	17750882:17751097:17752136:17752173:17754206:17754266	17752136:17752173	ENSG00000175662.13	ENST00000581396.1,ENST00000478943.1,ENST00000379504.3,ENST00000318094.10,ENST00000395739.4,ENST00000535933.1,ENST00000486413.1,ENST00000542206.1
exon_skip_287074	17	17750882:17751097:17752136:17752173:17764789:17764865	17752136:17752173	ENSG00000175662.13	ENST00000540946.1
exon_skip_287081	17	17752136:17752173:17754206:17754266:17764789:17764865	17754206:17754266	ENSG00000175662.13	ENST00000581396.1,ENST00000478943.1,ENST00000379504.3,ENST00000318094.10,ENST00000395739.4
exon_skip_287086	17	17752136:17752173:17764789:17764865:17766044:17766094	17764789:17764865	ENSG00000175662.13	ENST00000540946.1
exon_skip_287090	17	17754206:17754266:17761082:17761169:17764789:17764865	17761082:17761169	ENSG00000175662.13	ENST00000535933.1,ENST00000542206.1
exon_skip_287092	17	17754206:17754266:17764789:17764865:17766044:17766094	17764789:17764865	ENSG00000175662.13	ENST00000581396.1,ENST00000478943.1,ENST00000379504.3,ENST00000318094.10,ENST00000395739.4
exon_skip_287098	17	17769609:17769733:17770189:17770238:17772653:17772787	17770189:17770238	ENSG00000175662.13	ENST00000581396.1,ENST00000478943.1,ENST00000379504.3,ENST00000318094.10,ENST00000395739.4,ENST00000535933.1,ENST00000540946.1,ENST00000542206.1,ENST00000577517.1
exon_skip_287100	17	17782940:17783057:17786018:17786177:17787947:17788082	17786018:17786177	ENSG00000175662.13	ENST00000581396.1,ENST00000379504.3,ENST00000537091.2
exon_skip_287101	17	17782940:17783057:17786018:17786177:17796974:17797124	17786018:17786177	ENSG00000175662.13	ENST00000318094.10,ENST00000395739.4
exon_skip_287104	17	17782940:17783057:17787947:17788082:17796974:17797124	17787947:17788082	ENSG00000175662.13	ENST00000535933.1
exon_skip_287107	17	17782940:17783057:17796974:17797124:17801909:17801988	17796974:17797124	ENSG00000175662.13	ENST00000540946.1
exon_skip_287109	17	17786018:17786177:17787947:17788082:17796974:17797124	17787947:17788082	ENSG00000175662.13	ENST00000379504.3
exon_skip_287110	17	17786018:17786177:17787947:17788082:17801909:17801988	17787947:17788082	ENSG00000175662.13	ENST00000581396.1,ENST00000537091.2
exon_skip_287112	17	17786018:17786177:17796974:17797124:17801909:17801988	17796974:17797124	ENSG00000175662.13	ENST00000318094.10,ENST00000395739.4
exon_skip_287114	17	17787947:17788082:17796974:17797124:17801909:17801988	17796974:17797124	ENSG00000175662.13	ENST00000379504.3,ENST00000535933.1
exon_skip_287116	17	17801927:17801988:17810760:17810840:17875575:17875736	17810760:17810840	ENSG00000175662.13	ENST00000579586.1
exon_skip_287117	17	17801927:17801988:17810760:17810845:17875575:17875711	17810760:17810845	ENSG00000175662.13	ENST00000379504.3,ENST00000318094.10,ENST00000395739.4,ENST00000535933.1,ENST00000540946.1,ENST00000542206.1,ENST00000537091.2

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 TOM1L2

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
ENST00000379504	17752136	17752173	Frame-shift
ENST00000379504	17764789	17764865	Frame-shift
ENST00000379504	17770189	17770238	Frame-shift
ENST00000379504	17810760	17810845	Frame-shift
ENST00000379504	17754206	17754266	In-frame
ENST00000379504	17786018	17786177	In-frame
ENST00000379504	17787947	17788082	In-frame
ENST00000379504	17796974	17797124	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
ENST00000379504	17752136	17752173	Frame-shift
ENST00000379504	17764789	17764865	Frame-shift
ENST00000379504	17770189	17770238	Frame-shift
ENST00000379504	17810760	17810845	Frame-shift
ENST00000379504	17754206	17754266	In-frame
ENST00000379504	17786018	17786177	In-frame
ENST00000379504	17787947	17788082	In-frame
ENST00000379504	17796974	17797124	In-frame

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Infer the effects of exon skipping event on protein functional features for TOM1L2

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
ENST00000379504	2435	507	17796974	17797124	301	450	72	122
ENST00000379504	2435	507	17787947	17788082	451	585	122	167
ENST00000379504	2435	507	17786018	17786177	586	744	167	220
ENST00000379504	2435	507	17754206	17754266	1363	1422	426	446

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
ENST00000379504	2435	507	17796974	17797124	301	450	72	122
ENST00000379504	2435	507	17787947	17788082	451	585	122	167
ENST00000379504	2435	507	17786018	17786177	586	744	167	220
ENST00000379504	2435	507	17754206	17754266	1363	1422	426	446

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
Q6ZVM7	72	122	1	267	Alternative sequence	ID=VSP_023390;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6ZVM7	72	122	73	122	Alternative sequence	ID=VSP_023391;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6ZVM7	72	122	1	507	Chain	ID=PRO_0000278790;Note=TOM1-like protein 2
Q6ZVM7	72	122	20	152	Domain	Note=VHS;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00218
Q6ZVM7	122	167	1	267	Alternative sequence	ID=VSP_023390;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6ZVM7	122	167	73	122	Alternative sequence	ID=VSP_023391;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6ZVM7	122	167	123	167	Alternative sequence	ID=VSP_023392;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11997338,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11997338,PMID:14702039
Q6ZVM7	122	167	1	507	Chain	ID=PRO_0000278790;Note=TOM1-like protein 2
Q6ZVM7	122	167	20	152	Domain	Note=VHS;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00218
Q6ZVM7	122	167	160	160	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q6ZVM7	122	167	164	164	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q6ZVM7	167	220	1	267	Alternative sequence	ID=VSP_023390;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6ZVM7	167	220	123	167	Alternative sequence	ID=VSP_023392;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11997338,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11997338,PMID:14702039
Q6ZVM7	167	220	168	220	Alternative sequence	ID=VSP_057214;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6ZVM7	167	220	1	507	Chain	ID=PRO_0000278790;Note=TOM1-like protein 2
Q6ZVM7	167	220	219	307	Domain	Note=GAT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00373
Q6ZVM7	167	220	177	177	Sequence conflict	Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6ZVM7	426	446	426	426	Alternative sequence	ID=VSP_057215;Note=In isoform 5. G->GTFLSSAQKRGRGGESDLEPIDSWLITQGM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6ZVM7	426	446	1	507	Chain	ID=PRO_0000278790;Note=TOM1-like protein 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
Q6ZVM7	72	122	1	267	Alternative sequence	ID=VSP_023390;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6ZVM7	72	122	73	122	Alternative sequence	ID=VSP_023391;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6ZVM7	72	122	1	507	Chain	ID=PRO_0000278790;Note=TOM1-like protein 2
Q6ZVM7	72	122	20	152	Domain	Note=VHS;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00218
Q6ZVM7	122	167	1	267	Alternative sequence	ID=VSP_023390;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6ZVM7	122	167	73	122	Alternative sequence	ID=VSP_023391;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6ZVM7	122	167	123	167	Alternative sequence	ID=VSP_023392;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11997338,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11997338,PMID:14702039
Q6ZVM7	122	167	1	507	Chain	ID=PRO_0000278790;Note=TOM1-like protein 2
Q6ZVM7	122	167	20	152	Domain	Note=VHS;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00218
Q6ZVM7	122	167	160	160	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q6ZVM7	122	167	164	164	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q6ZVM7	167	220	1	267	Alternative sequence	ID=VSP_023390;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6ZVM7	167	220	123	167	Alternative sequence	ID=VSP_023392;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11997338,ECO:0000303\|PubMed:14702039;Dbxref=PMID:11997338,PMID:14702039
Q6ZVM7	167	220	168	220	Alternative sequence	ID=VSP_057214;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6ZVM7	167	220	1	507	Chain	ID=PRO_0000278790;Note=TOM1-like protein 2
Q6ZVM7	167	220	219	307	Domain	Note=GAT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00373
Q6ZVM7	167	220	177	177	Sequence conflict	Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6ZVM7	426	446	426	426	Alternative sequence	ID=VSP_057215;Note=In isoform 5. G->GTFLSSAQKRGRGGESDLEPIDSWLITQGM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q6ZVM7	426	446	1	507	Chain	ID=PRO_0000278790;Note=TOM1-like protein 2

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SNVs in the skipped exons for TOM1L2

- 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
LIHC	TCGA-G3-A3CJ-01	exon_skip_287101 exon_skip_287100	17786019	17786177	17786170	17786170	Frame_Shift_Del	G	-	p.P120fs
LIHC	TCGA-DD-A39Y-01	exon_skip_287104 exon_skip_287109 exon_skip_287110	17787948	17788082	17788004	17788004	Frame_Shift_Del	C	-	p.V99fs
KIRC	TCGA-B8-A54I-01	exon_skip_287104 exon_skip_287109 exon_skip_287110	17787948	17788082	17788031	17788031	Frame_Shift_Del	T	-	p.I140fs
LIHC	TCGA-DD-A3A0-01	exon_skip_287114 exon_skip_287112 exon_skip_287107	17796975	17797124	17797037	17797037	Frame_Shift_Del	T	-	p.I103fs
STAD	TCGA-BR-8081-01	exon_skip_287104 exon_skip_287109 exon_skip_287110	17787948	17788082	17788064	17788064	Nonsense_Mutation	G	A	p.R129*
UCEC	TCGA-B5-A11E-01	exon_skip_287104 exon_skip_287109 exon_skip_287110	17787948	17788082	17788064	17788064	Nonsense_Mutation	G	A	p.R129*
STAD	TCGA-CG-5721-01	exon_skip_287092 exon_skip_287086	17764790	17764865	17764788	17764788	Splice_Site	A	G	p.G426_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CG-5721-01
	Cancer type: STAD
	ESID: exon_skip_287086
	Skipped exon start: 17764790
	Skipped exon end: 17764865
	Mutation start: 17764788
	Mutation end: 17764788
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: p.G426_splice
exon_skip_107493_STAD_TCGA-CG-5721-01.png
exon_skip_107867_STAD_TCGA-CG-5721-01.png
exon_skip_123973_STAD_TCGA-CG-5721-01.png
exon_skip_124728_STAD_TCGA-CG-5721-01.png
exon_skip_20583_STAD_TCGA-CG-5721-01.png
exon_skip_284550_STAD_TCGA-CG-5721-01.png
exon_skip_287086_STAD_TCGA-CG-5721-01.png
exon_skip_287092_STAD_TCGA-CG-5721-01.png
exon_skip_328008_STAD_TCGA-CG-5721-01.png
exon_skip_347989_STAD_TCGA-CG-5721-01.png
exon_skip_360357_STAD_TCGA-CG-5721-01.png
exon_skip_360359_STAD_TCGA-CG-5721-01.png
exon_skip_361242_STAD_TCGA-CG-5721-01.png
exon_skip_363554_STAD_TCGA-CG-5721-01.png
exon_skip_370065_STAD_TCGA-CG-5721-01.png
exon_skip_377240_STAD_TCGA-CG-5721-01.png
exon_skip_378735_STAD_TCGA-CG-5721-01.png
exon_skip_41850_STAD_TCGA-CG-5721-01.png
exon_skip_425098_STAD_TCGA-CG-5721-01.png
exon_skip_443908_STAD_TCGA-CG-5721-01.png
exon_skip_449553_STAD_TCGA-CG-5721-01.png
exon_skip_452918_STAD_TCGA-CG-5721-01.png
exon_skip_454809_STAD_TCGA-CG-5721-01.png
exon_skip_462689_STAD_TCGA-CG-5721-01.png
exon_skip_482821_STAD_TCGA-CG-5721-01.png
exon_skip_482822_STAD_TCGA-CG-5721-01.png
exon_skip_487878_STAD_TCGA-CG-5721-01.png
exon_skip_502793_STAD_TCGA-CG-5721-01.png
exon_skip_508189_STAD_TCGA-CG-5721-01.png
exon_skip_516607_STAD_TCGA-CG-5721-01.png
exon_skip_54935_STAD_TCGA-CG-5721-01.png
exon_skip_96977_STAD_TCGA-CG-5721-01.png
	Sample: TCGA-CG-5721-01
	Cancer type: STAD
	ESID: exon_skip_287086
	Skipped exon start: 17764790
	Skipped exon end: 17764865
	Mutation start: 17764788
	Mutation end: 17764788
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: p.G426_splice
exon_skip_107493_STAD_TCGA-CG-5721-01.png
exon_skip_107867_STAD_TCGA-CG-5721-01.png
exon_skip_123973_STAD_TCGA-CG-5721-01.png
exon_skip_124728_STAD_TCGA-CG-5721-01.png
exon_skip_20583_STAD_TCGA-CG-5721-01.png
exon_skip_284550_STAD_TCGA-CG-5721-01.png
exon_skip_287086_STAD_TCGA-CG-5721-01.png
exon_skip_287092_STAD_TCGA-CG-5721-01.png
exon_skip_328008_STAD_TCGA-CG-5721-01.png
exon_skip_347989_STAD_TCGA-CG-5721-01.png
exon_skip_360357_STAD_TCGA-CG-5721-01.png
exon_skip_360359_STAD_TCGA-CG-5721-01.png
exon_skip_361242_STAD_TCGA-CG-5721-01.png
exon_skip_363554_STAD_TCGA-CG-5721-01.png
exon_skip_370065_STAD_TCGA-CG-5721-01.png
exon_skip_377240_STAD_TCGA-CG-5721-01.png
exon_skip_378735_STAD_TCGA-CG-5721-01.png
exon_skip_41850_STAD_TCGA-CG-5721-01.png
exon_skip_425098_STAD_TCGA-CG-5721-01.png
exon_skip_443908_STAD_TCGA-CG-5721-01.png
exon_skip_449553_STAD_TCGA-CG-5721-01.png
exon_skip_452918_STAD_TCGA-CG-5721-01.png
exon_skip_454809_STAD_TCGA-CG-5721-01.png
exon_skip_462689_STAD_TCGA-CG-5721-01.png
exon_skip_482821_STAD_TCGA-CG-5721-01.png
exon_skip_482822_STAD_TCGA-CG-5721-01.png
exon_skip_487878_STAD_TCGA-CG-5721-01.png
exon_skip_502793_STAD_TCGA-CG-5721-01.png
exon_skip_508189_STAD_TCGA-CG-5721-01.png
exon_skip_516607_STAD_TCGA-CG-5721-01.png
exon_skip_54935_STAD_TCGA-CG-5721-01.png
exon_skip_96977_STAD_TCGA-CG-5721-01.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
SCC90_UPPER_AERODIGESTIVE_TRACT	17786019	17786177	17786107	17786108	Frame_Shift_Ins	-	A	p.S191fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17754207	17754266	17754217	17754217	Missense_Mutation	C	T	p.R443K
MFE319_ENDOMETRIUM	17754207	17754266	17754220	17754220	Missense_Mutation	A	G	p.L442P
HCT15_LARGE_INTESTINE	17764790	17764865	17764851	17764851	Missense_Mutation	T	C	p.D406G
EN_ENDOMETRIUM	17764790	17764865	17764857	17764857	Missense_Mutation	T	C	p.Y404C
HCT15_LARGE_INTESTINE	17770190	17770238	17770215	17770215	Missense_Mutation	C	T	p.R312Q
C33A_CERVIX	17786019	17786177	17786075	17786075	Missense_Mutation	C	T	p.A202T
TE1_OESOPHAGUS	17786019	17786177	17786152	17786152	Missense_Mutation	G	A	p.A176V
NCIH513_PLEURA	17787948	17788082	17788025	17788025	Missense_Mutation	C	G	p.E142Q
SLR24_KIDNEY	17787948	17788082	17788043	17788043	Missense_Mutation	C	T	p.G136S
LC1F_LUNG	17787948	17788082	17788069	17788069	Missense_Mutation	G	C	p.A127G
LC1SQSF_LUNG	17787948	17788082	17788069	17788069	Missense_Mutation	G	C	p.A127G
LC1SQ_LUNG	17787948	17788082	17788069	17788069	Missense_Mutation	G	C	p.A127G
MET2B	17796975	17797124	17797027	17797027	Missense_Mutation	G	T	p.P105H
NCIH28_PLEURA	17796975	17797124	17797094	17797094	Missense_Mutation	G	A	p.H83Y
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17796975	17797124	17797101	17797101	Missense_Mutation	G	T	p.N80K
DOV13_OVARY	17810761	17810840	17810793	17810793	Missense_Mutation	C	A	p.E35D
DOV13_OVARY	17810761	17810845	17810793	17810793	Missense_Mutation	C	A	p.E35D
HS294T_SKIN	17810761	17810840	17810793	17810793	Missense_Mutation	C	A	p.E35D
HS294T_SKIN	17810761	17810845	17810793	17810793	Missense_Mutation	C	A	p.E35D
MZ1PC_PANCREAS	17787948	17788082	17788081	17788081	Splice_Site	G	T	p.A123E

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TOM1L2

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 TOM1L2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TOM1L2

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RelatedDrugs for TOM1L2

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 TOM1L2

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 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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