ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TOM1L1

Gene summary

Gene information	Gene symbol	TOM1L1
	Gene ID	10040
	Gene name	target of myb1 like 1 membrane trafficking protein
	Synonyms	SRCASM
	Cytomap	17q22
	Type of gene	protein-coding
	Description	TOM1-like protein 1src-activating and signaling molecule proteintarget of Myb-like protein 1
	Modification date	20180519
	UniProtAcc	O75674
	Context	PubMed: TOM1L1 [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
TOM1L1	GO:0007165	signal transduction	16479011
TOM1L1	GO:0031954	positive regulation of protein autophosphorylation	16479011
TOM1L1	GO:0032147	activation of protein kinase activity	16479011
TOM1L1	GO:0045839	negative regulation of mitotic nuclear division	16479011
TOM1L1	GO:2000278	regulation of DNA biosynthetic process	16479011

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Exon skipping events across known transcript of Ensembl for TOM1L1 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 TOM1L1

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 TOM1L1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_154469	17	52978237:52978284:52981040:52981153:52982849:52982928	52981040:52981153	ENSG00000141198.9	ENST00000570965.1
exon_skip_154478	17	52978237:52978284:52981068:52981153:52982849:52982928	52981068:52981153	ENSG00000141198.9	ENST00000572158.1,ENST00000575882.1,ENST00000575333.1,ENST00000570371.1,ENST00000570499.1,ENST00000572576.1,ENST00000572360.1,ENST00000445275.2
exon_skip_154480	17	52978237:52978284:52981068:52981153:52990026:52990176	52981068:52981153	ENSG00000141198.9	ENST00000540336.1,ENST00000571319.1
exon_skip_154483	17	52978237:52978284:52981073:52981153:52982849:52982928	52981073:52981153	ENSG00000141198.9	ENST00000572405.1,ENST00000572298.1
exon_skip_154494	17	52978237:52978284:52982849:52982928:52990026:52990176	52982849:52982928	ENSG00000141198.9	ENST00000348161.4
exon_skip_154501	17	52978237:52978284:52990026:52990176:52991108:52991207	52990026:52990176	ENSG00000141198.9	ENST00000536554.1,ENST00000576932.1
exon_skip_154507	17	52981073:52981153:52982849:52982928:52990026:52990176	52982849:52982928	ENSG00000141198.9	ENST00000572405.1,ENST00000575882.1,ENST00000575333.1,ENST00000570371.1,ENST00000570499.1,ENST00000575909.1,ENST00000573607.1,ENST00000570965.1,ENST00000445275.2
exon_skip_154508	17	52981073:52981153:52982849:52982928:52991108:52991207	52982849:52982928	ENSG00000141198.9	ENST00000572576.1
exon_skip_154511	17	52981073:52981153:52990026:52990176:52991108:52991207	52990026:52990176	ENSG00000141198.9	ENST00000540336.1,ENST00000571319.1
exon_skip_154518	17	52982857:52982928:52984139:52984147:52990026:52990176	52984139:52984147	ENSG00000141198.9	ENST00000572298.1,ENST00000572360.1
exon_skip_154521	17	52982849:52982928:52990026:52990176:52991108:52991207	52990026:52990176	ENSG00000141198.9	ENST00000572405.1,ENST00000575882.1,ENST00000575333.1,ENST00000570371.1,ENST00000570499.1,ENST00000575909.1,ENST00000573607.1,ENST00000348161.4,ENST00000570965.1,ENST00000445275.2
exon_skip_154523	17	52982849:52982928:52990047:52990176:52991108:52991207	52990047:52990176	ENSG00000141198.9	ENST00000572158.1
exon_skip_154528	17	52991179:52991234:52991999:52992104:52993106:52993208	52991999:52992104	ENSG00000141198.9	ENST00000572158.1,ENST00000572405.1,ENST00000570977.1,ENST00000575882.1,ENST00000575333.1,ENST00000570371.1,ENST00000536554.1,ENST00000575909.1,ENST00000572576.1,ENST00000576932.1,ENST00000348161.4,ENST00000570965.1,ENST00000445275.2
exon_skip_154531	17	52993106:52993223:53007433:53007567:53014009:53014070	53007433:53007567	ENSG00000141198.9	ENST00000572158.1,ENST00000575882.1,ENST00000575333.1,ENST00000570371.1,ENST00000536554.1,ENST00000572576.1,ENST00000576932.1,ENST00000348161.4,ENST00000540336.1,ENST00000445275.2,ENST00000571319.1
exon_skip_154534	17	53014469:53014587:53016284:53016381:53019649:53019852	53016284:53016381	ENSG00000141198.9	ENST00000576932.1
exon_skip_154535	17	53014469:53014587:53016284:53016381:53024621:53024672	53016284:53016381	ENSG00000141198.9	ENST00000572158.1,ENST00000575882.1,ENST00000536554.1,ENST00000348161.4,ENST00000540336.1,ENST00000445275.2,ENST00000571319.1
exon_skip_154547	17	53016284:53016381:53019649:53019852:53024621:53024672	53019649:53019852	ENSG00000141198.9	ENST00000576932.1
exon_skip_154548	17	53016284:53016381:53024621:53024673:53026878:53026984	53024621:53024673	ENSG00000141198.9	ENST00000572158.1,ENST00000575882.1,ENST00000536554.1,ENST00000348161.4,ENST00000574318.1,ENST00000540336.1,ENST00000574653.1,ENST00000571319.1
exon_skip_154554	17	53026911:53026984:53027405:53027487:53037926:53037988	53027405:53027487	ENSG00000141198.9	ENST00000572158.1,ENST00000575882.1,ENST00000536554.1,ENST00000348161.4,ENST00000540336.1,ENST00000574653.1,ENST00000445275.2,ENST00000571319.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TOM1L1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_154469	17	52978237:52978284:52981040:52981153:52982849:52982928	52981040:52981153	ENSG00000141198.9	ENST00000570965.1
exon_skip_154478	17	52978237:52978284:52981068:52981153:52982849:52982928	52981068:52981153	ENSG00000141198.9	ENST00000570371.1,ENST00000575882.1,ENST00000445275.2,ENST00000572158.1,ENST00000575333.1,ENST00000572360.1,ENST00000570499.1,ENST00000572576.1
exon_skip_154480	17	52978237:52978284:52981068:52981153:52990026:52990176	52981068:52981153	ENSG00000141198.9	ENST00000540336.1,ENST00000571319.1
exon_skip_154483	17	52978237:52978284:52981073:52981153:52982849:52982928	52981073:52981153	ENSG00000141198.9	ENST00000572405.1,ENST00000572298.1
exon_skip_154494	17	52978237:52978284:52982849:52982928:52990026:52990176	52982849:52982928	ENSG00000141198.9	ENST00000348161.4
exon_skip_154501	17	52978237:52978284:52990026:52990176:52991108:52991207	52990026:52990176	ENSG00000141198.9	ENST00000576932.1,ENST00000536554.1
exon_skip_154507	17	52981073:52981153:52982849:52982928:52990026:52990176	52982849:52982928	ENSG00000141198.9	ENST00000570371.1,ENST00000575882.1,ENST00000570965.1,ENST00000445275.2,ENST00000572405.1,ENST00000575333.1,ENST00000570499.1,ENST00000573607.1,ENST00000575909.1
exon_skip_154518	17	52982857:52982928:52984139:52984147:52990026:52990176	52984139:52984147	ENSG00000141198.9	ENST00000572298.1,ENST00000572360.1
exon_skip_154521	17	52982849:52982928:52990026:52990176:52991108:52991207	52990026:52990176	ENSG00000141198.9	ENST00000570371.1,ENST00000575882.1,ENST00000570965.1,ENST00000445275.2,ENST00000348161.4,ENST00000572405.1,ENST00000575333.1,ENST00000570499.1,ENST00000573607.1,ENST00000575909.1
exon_skip_154523	17	52982849:52982928:52990047:52990176:52991108:52991207	52990047:52990176	ENSG00000141198.9	ENST00000572158.1
exon_skip_154528	17	52991179:52991234:52991999:52992104:52993106:52993208	52991999:52992104	ENSG00000141198.9	ENST00000570371.1,ENST00000575882.1,ENST00000570965.1,ENST00000445275.2,ENST00000348161.4,ENST00000572405.1,ENST00000576932.1,ENST00000572158.1,ENST00000536554.1,ENST00000575333.1,ENST00000572576.1,ENST00000575909.1,ENST00000570977.1
exon_skip_154531	17	52993106:52993223:53007433:53007567:53014009:53014070	53007433:53007567	ENSG00000141198.9	ENST00000570371.1,ENST00000575882.1,ENST00000445275.2,ENST00000348161.4,ENST00000576932.1,ENST00000572158.1,ENST00000540336.1,ENST00000536554.1,ENST00000571319.1,ENST00000575333.1,ENST00000572576.1
exon_skip_154534	17	53014469:53014587:53016284:53016381:53019649:53019852	53016284:53016381	ENSG00000141198.9	ENST00000576932.1
exon_skip_154535	17	53014469:53014587:53016284:53016381:53024621:53024672	53016284:53016381	ENSG00000141198.9	ENST00000575882.1,ENST00000445275.2,ENST00000348161.4,ENST00000572158.1,ENST00000540336.1,ENST00000536554.1,ENST00000571319.1
exon_skip_154547	17	53016284:53016381:53019649:53019852:53024621:53024672	53019649:53019852	ENSG00000141198.9	ENST00000576932.1
exon_skip_154548	17	53016284:53016381:53024621:53024673:53026878:53026984	53024621:53024673	ENSG00000141198.9	ENST00000575882.1,ENST00000348161.4,ENST00000572158.1,ENST00000540336.1,ENST00000536554.1,ENST00000571319.1,ENST00000574653.1,ENST00000574318.1

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 TOM1L1

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
ENST00000575882	52981068	52981153	Frame-shift
ENST00000575882	52982849	52982928	Frame-shift
ENST00000575882	53007433	53007567	Frame-shift
ENST00000575882	53016284	53016381	Frame-shift
ENST00000575882	53024621	53024673	Frame-shift
ENST00000575882	53027405	53027487	Frame-shift
ENST00000575882	52990026	52990176	In-frame
ENST00000575882	52991999	52992104	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
ENST00000575882	52981068	52981153	Frame-shift
ENST00000575882	52982849	52982928	Frame-shift
ENST00000575882	53007433	53007567	Frame-shift
ENST00000575882	53016284	53016381	Frame-shift
ENST00000575882	53024621	53024673	Frame-shift
ENST00000575882	52990026	52990176	In-frame
ENST00000575882	52991999	52992104	In-frame

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Infer the effects of exon skipping event on protein functional features for TOM1L1

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
ENST00000575882	2517	476	52990026	52990176	576	725	74	124
ENST00000575882	2517	476	52991999	52992104	852	956	166	201

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
ENST00000575882	2517	476	52990026	52990176	576	725	74	124
ENST00000575882	2517	476	52991999	52992104	852	956	166	201

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
O75674	74	124	1	77	Alternative sequence	ID=VSP_057424;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O75674	74	124	1	476	Chain	ID=PRO_0000072566;Note=TOM1-like protein 1
O75674	74	124	22	154	Domain	Note=VHS;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00218
O75674	74	124	66	82	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	74	124	85	91	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	74	124	94	97	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	74	124	102	105	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	74	124	107	109	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	74	124	113	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	74	124	108	108	Natural variant	ID=VAR_047469;Note=R->S;Dbxref=dbSNP:rs16955377
O75674	74	124	98	101	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	166	201	1	476	Chain	ID=PRO_0000072566;Note=TOM1-like protein 1
O75674	166	201	200	288	Domain	Note=GAT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00373
O75674	166	201	171	171	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q923U0

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
O75674	74	124	1	77	Alternative sequence	ID=VSP_057424;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O75674	74	124	1	476	Chain	ID=PRO_0000072566;Note=TOM1-like protein 1
O75674	74	124	22	154	Domain	Note=VHS;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00218
O75674	74	124	66	82	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	74	124	85	91	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	74	124	94	97	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	74	124	102	105	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	74	124	107	109	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	74	124	113	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	74	124	108	108	Natural variant	ID=VAR_047469;Note=R->S;Dbxref=dbSNP:rs16955377
O75674	74	124	98	101	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RRU
O75674	166	201	1	476	Chain	ID=PRO_0000072566;Note=TOM1-like protein 1
O75674	166	201	200	288	Domain	Note=GAT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00373
O75674	166	201	171	171	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q923U0

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SNVs in the skipped exons for TOM1L1

- 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-DD-A39Y-01	exon_skip_154508 exon_skip_154507 exon_skip_154494	52982850	52982928	52982878	52982878	Frame_Shift_Del	A	-	p.K58fs
LUAD	TCGA-05-4424-01	exon_skip_154501 exon_skip_154521 exon_skip_154523 exon_skip_154511	52990027	52990176	52990037	52990038	Frame_Shift_Del	TG	-	p.M78fs
STAD	TCGA-BR-8372-01	exon_skip_154501 exon_skip_154521 exon_skip_154523 exon_skip_154511	52990027	52990176	52990096	52990097	Frame_Shift_Del	AA	-	p.97_98del
STAD	TCGA-BR-8372-01	exon_skip_154501 exon_skip_154521 exon_skip_154523 exon_skip_154511	52990027	52990176	52990096	52990097	Frame_Shift_Del	AA	-	p.V97fs
STAD	TCGA-BR-8372-01	exon_skip_154501 exon_skip_154521 exon_skip_154523 exon_skip_154511	52990048	52990176	52990096	52990097	Frame_Shift_Del	AA	-	p.97_98del
STAD	TCGA-BR-8372-01	exon_skip_154501 exon_skip_154521 exon_skip_154523 exon_skip_154511	52990048	52990176	52990096	52990097	Frame_Shift_Del	AA	-	p.V97fs
LIHC	TCGA-DD-A39Y-01		52992000	52992104	52992071	52992071	Frame_Shift_Del	A	-	p.P190fs
LIHC	TCGA-DD-A3A0-01		52992000	52992104	52992095	52992095	Frame_Shift_Del	C	-	p.V198fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_154554	53027406	53027487	53027413	53027413	Frame_Shift_Del	A	-	p.T432fs
COAD	TCGA-CM-6171-01	exon_skip_154501 exon_skip_154521 exon_skip_154523 exon_skip_154511	52990027	52990176	52990045	52990045	Nonsense_Mutation	C	T	p.Q81X
LGG	TCGA-DU-6392-01		52992000	52992104	52992099	52992099	Nonsense_Mutation	G	T	p.E200*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CM-6171-01
	Cancer type: COAD
	ESID: exon_skip_154511
	Skipped exon start: 52990027
	Skipped exon end: 52990176
	Mutation start: 52990045
	Mutation end: 52990045
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q81X
exon_skip_104657_COAD_TCGA-CM-6171-01.png
exon_skip_154501_COAD_TCGA-CM-6171-01.png
exon_skip_154511_COAD_TCGA-CM-6171-01.png
exon_skip_154521_COAD_TCGA-CM-6171-01.png
exon_skip_1757_COAD_TCGA-CM-6171-01.png
exon_skip_306804_COAD_TCGA-CM-6171-01.png
exon_skip_316878_COAD_TCGA-CM-6171-01.png
exon_skip_316879_COAD_TCGA-CM-6171-01.png
exon_skip_366970_COAD_TCGA-CM-6171-01.png
exon_skip_366972_COAD_TCGA-CM-6171-01.png
exon_skip_454979_COAD_TCGA-CM-6171-01.png
exon_skip_49506_COAD_TCGA-CM-6171-01.png
exon_skip_98040_COAD_TCGA-CM-6171-01.png
	Sample: TCGA-CM-6171-01
	Cancer type: COAD
	ESID: exon_skip_154511
	Skipped exon start: 52990027
	Skipped exon end: 52990176
	Mutation start: 52990045
	Mutation end: 52990045
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q81X
exon_skip_104657_COAD_TCGA-CM-6171-01.png
exon_skip_154501_COAD_TCGA-CM-6171-01.png
exon_skip_154511_COAD_TCGA-CM-6171-01.png
exon_skip_154521_COAD_TCGA-CM-6171-01.png
exon_skip_1757_COAD_TCGA-CM-6171-01.png
exon_skip_306804_COAD_TCGA-CM-6171-01.png
exon_skip_316878_COAD_TCGA-CM-6171-01.png
exon_skip_316879_COAD_TCGA-CM-6171-01.png
exon_skip_366970_COAD_TCGA-CM-6171-01.png
exon_skip_366972_COAD_TCGA-CM-6171-01.png
exon_skip_454979_COAD_TCGA-CM-6171-01.png
exon_skip_49506_COAD_TCGA-CM-6171-01.png
exon_skip_98040_COAD_TCGA-CM-6171-01.png
	Sample: TCGA-CM-6171-01
	Cancer type: COAD
	ESID: exon_skip_154511
	Skipped exon start: 52990027
	Skipped exon end: 52990176
	Mutation start: 52990045
	Mutation end: 52990045
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q81X
exon_skip_104657_COAD_TCGA-CM-6171-01.png
exon_skip_154501_COAD_TCGA-CM-6171-01.png
exon_skip_154511_COAD_TCGA-CM-6171-01.png
exon_skip_154521_COAD_TCGA-CM-6171-01.png
exon_skip_1757_COAD_TCGA-CM-6171-01.png
exon_skip_306804_COAD_TCGA-CM-6171-01.png
exon_skip_316878_COAD_TCGA-CM-6171-01.png
exon_skip_316879_COAD_TCGA-CM-6171-01.png
exon_skip_366970_COAD_TCGA-CM-6171-01.png
exon_skip_366972_COAD_TCGA-CM-6171-01.png
exon_skip_454979_COAD_TCGA-CM-6171-01.png
exon_skip_49506_COAD_TCGA-CM-6171-01.png
exon_skip_98040_COAD_TCGA-CM-6171-01.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
HCT116_LARGE_INTESTINE	53016285	53016381	53016377	53016377	Frame_Shift_Del	C	-	p.P377fs
M00921_SKIN	52990027	52990176	52990038	52990038	Missense_Mutation	G	C	p.M78I
WM1552C_SKIN	52990027	52990176	52990101	52990101	Missense_Mutation	G	T	p.E99D
WM1552C_SKIN	52990048	52990176	52990101	52990101	Missense_Mutation	G	T	p.E99D
CJM_SKIN	53007434	53007567	53007494	53007494	Missense_Mutation	G	A	p.E261K
OVK18_OVARY	53007434	53007567	53007549	53007549	Missense_Mutation	C	T	p.A279V
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	53007434	53007567	53007549	53007549	Missense_Mutation	C	T	p.A279V
MET2B	53007434	53007567	53007554	53007554	Missense_Mutation	C	T	p.L281F
HEC108_ENDOMETRIUM	53016285	53016381	53016306	53016306	Missense_Mutation	A	G	p.D352G
EFO27_OVARY	53016285	53016381	53016315	53016315	Missense_Mutation	A	G	p.N355S
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	53016285	53016381	53016378	53016378	Missense_Mutation	C	T	p.P376L
LS411N_LARGE_INTESTINE	53027406	53027487	53027475	53027475	Missense_Mutation	C	T	p.A453V
KM12_LARGE_INTESTINE	53027406	53027487	53027477	53027477	Missense_Mutation	G	A	p.V454I
RKN_SOFT_TISSUE	53024622	53024673	53024672	53024672	Splice_Site	A	G	p.N394S
SNU520_STOMACH	53027406	53027487	53027407	53027407	Splice_Site	G	A	p.A430A

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TOM1L1

sQTL information located at the skipped exons.

Exon skip ID	Chromosome	Three exons	Skippped exon	ENST	Cancer type	SNP id	Location	DNA change (ref/var)	P-value
exon_skip_154547	17	53016284:53016381:53019649:53019852:53024621:53024672	53019649:53019852	ENST00000576932.1	LIHC	rs7503269	chr17:53019712	T/C	1.76e-03
exon_skip_154547	17	53016284:53016381:53019649:53019852:53024621:53024672	53019649:53019852	ENST00000576932.1	THCA	rs7503269	chr17:53019712	T/C	1.77e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TOM1L1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TOM1L1

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RelatedDrugs for TOM1L1

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 TOM1L1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
TOM1L1	C0033578	Prostatic Neoplasms	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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