ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TLE3

Gene summary

Gene information	Gene symbol	TLE3
	Gene ID	7090
	Gene name	transducin like enhancer of split 3
	Synonyms	ESG\|ESG3\|GRG3\|HsT18976
	Cytomap	15q23
	Type of gene	protein-coding
	Description	transducin-like enhancer protein 3enhancer of split groucho 3enhancer of split groucho-like protein 3transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)transducin-like enhancer of split 3 short isoformtransducin-like enhancer of split 3,
	Modification date	20180523
	UniProtAcc	Q04726
	Context	PubMed: TLE3 [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 TLE3 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 TLE3

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 TLE3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_128800	15	70342435:70342543:70343729:70343806:70344712:70344863	70343729:70343806	ENSG00000140332.11	ENST00000558201.1,ENST00000558379.1,ENST00000442299.2,ENST00000558939.1,ENST00000557919.1,ENST00000560525.1,ENST00000560589.1,ENST00000539550.1,ENST00000559191.1,ENST00000559048.1,ENST00000559929.1,ENST00000560939.1,ENST00000557907.1,ENST00000451782.2,ENS
exon_skip_128802	15	70343729:70343806:70344712:70344863:70345565:70345713	70344712:70344863	ENSG00000140332.11	ENST00000558201.1,ENST00000558379.1,ENST00000442299.2,ENST00000558939.1,ENST00000557919.1,ENST00000560525.1,ENST00000560589.1,ENST00000539550.1,ENST00000559191.1,ENST00000559048.1,ENST00000559929.1,ENST00000560939.1,ENST00000557907.1,ENST00000451782.2,ENS
exon_skip_128804	15	70345565:70345713:70346776:70347019:70347387:70347602	70346776:70347019	ENSG00000140332.11	ENST00000560525.1
exon_skip_128805	15	70345565:70345713:70346776:70347024:70347387:70347602	70346776:70347024	ENSG00000140332.11	ENST00000558201.1,ENST00000558379.1,ENST00000442299.2,ENST00000558939.1,ENST00000557919.1,ENST00000560589.1,ENST00000542329.2,ENST00000539550.1,ENST00000559191.1,ENST00000559048.1,ENST00000559929.1,ENST00000560939.1,ENST00000557907.1,ENST00000451782.2,ENS
exon_skip_128808	15	70347387:70347637:70348636:70348713:70349797:70349997	70348636:70348713	ENSG00000140332.11	ENST00000558201.1,ENST00000558939.1,ENST00000560525.1,ENST00000560589.1,ENST00000559929.1,ENST00000560939.1,ENST00000451782.2,ENST00000440567.3,ENST00000317509.8
exon_skip_128809	15	70347387:70347637:70348636:70348713:70349812:70349858	70348636:70348713	ENSG00000140332.11	ENST00000558379.1,ENST00000442299.2,ENST00000539550.1,ENST00000559191.1,ENST00000559048.1,ENST00000557907.1,ENST00000557997.1
exon_skip_128811	15	70349812:70349997:70350488:70350630:70351001:70351154	70350488:70350630	ENSG00000140332.11	ENST00000558201.1,ENST00000558379.1,ENST00000558939.1,ENST00000560589.1,ENST00000559048.1,ENST00000559929.1,ENST00000561453.1
exon_skip_128812	15	70349812:70349997:70350497:70350630:70351001:70351154	70350497:70350630	ENSG00000140332.11	ENST00000442299.2,ENST00000557919.1,ENST00000560525.1,ENST00000560939.1,ENST00000557907.1,ENST00000451782.2,ENST00000557997.1,ENST00000440567.3
exon_skip_128813	15	70349812:70349997:70350524:70350630:70351001:70351154	70350524:70350630	ENSG00000140332.11	ENST00000539550.1,ENST00000317509.8
exon_skip_128814	15	70350524:70350630:70351001:70351154:70351748:70351799	70351001:70351154	ENSG00000140332.11	ENST00000558201.1,ENST00000558379.1,ENST00000442299.2,ENST00000558939.1,ENST00000557919.1,ENST00000560525.1,ENST00000560589.1,ENST00000539550.1,ENST00000559048.1,ENST00000559929.1,ENST00000560939.1,ENST00000557907.1,ENST00000451782.2,ENST00000561453.1,ENS
exon_skip_128817	15	70352868:70352988:70356792:70356809:70358352:70358554	70356792:70356809	ENSG00000140332.11	ENST00000558201.1,ENST00000558379.1,ENST00000558939.1,ENST00000557919.1,ENST00000560525.1,ENST00000560589.1,ENST00000539550.1,ENST00000559048.1,ENST00000559929.1,ENST00000560939.1,ENST00000557907.1,ENST00000451782.2,ENST00000561453.1,ENST00000557997.1,ENS
exon_skip_128825	15	70356792:70356809:70358352:70358554:70366871:70366934	70358352:70358554	ENSG00000140332.11	ENST00000559048.1,ENST00000560939.1
exon_skip_128826	15	70356792:70356809:70358352:70358557:70366871:70366934	70358352:70358557	ENSG00000140332.11	ENST00000558201.1,ENST00000558379.1,ENST00000558939.1,ENST00000557919.1,ENST00000560525.1,ENST00000560589.1,ENST00000557907.1,ENST00000451782.2,ENST00000561453.1,ENST00000557997.1,ENST00000440567.3,ENST00000317509.8
exon_skip_128827	15	70358482:70358554:70358956:70359278:70366871:70366934	70358956:70359278	ENSG00000140332.11	ENST00000537387.2
exon_skip_128831	15	70386870:70386915:70387916:70387980:70388499:70388600	70387916:70387980	ENSG00000140332.11	ENST00000558201.1,ENST00000558379.1,ENST00000442299.2,ENST00000558939.1,ENST00000557919.1,ENST00000560525.1,ENST00000559048.1,ENST00000559929.1,ENST00000560939.1,ENST00000557907.1,ENST00000451782.2,ENST00000561453.1,ENST00000557997.1,ENST00000560996.1,ENS
exon_skip_128832	15	70387916:70387980:70388499:70388600:70389113:70389137	70388499:70388600	ENSG00000140332.11	ENST00000558379.1,ENST00000442299.2,ENST00000557919.1,ENST00000560525.1,ENST00000559929.1,ENST00000557907.1,ENST00000451782.2,ENST00000561453.1,ENST00000557997.1,ENST00000317509.8

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TLE3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_128800	15	70342435:70342543:70343729:70343806:70344712:70344863	70343729:70343806	ENSG00000140332.11	ENST00000558939.1,ENST00000442299.2,ENST00000317509.8,ENST00000557919.1,ENST00000560525.1,ENST00000560589.1,ENST00000559929.1,ENST00000559048.1,ENST00000560939.1,ENST00000557997.1,ENST00000561453.1,ENST00000539550.1,ENST00000558201.1,ENST00000440567.3,ENS
exon_skip_128802	15	70343729:70343806:70344712:70344863:70345565:70345713	70344712:70344863	ENSG00000140332.11	ENST00000558939.1,ENST00000442299.2,ENST00000317509.8,ENST00000557919.1,ENST00000560525.1,ENST00000560589.1,ENST00000559929.1,ENST00000559048.1,ENST00000560939.1,ENST00000557997.1,ENST00000561453.1,ENST00000539550.1,ENST00000558201.1,ENST00000440567.3,ENS
exon_skip_128804	15	70345565:70345713:70346776:70347019:70347387:70347602	70346776:70347019	ENSG00000140332.11	ENST00000560525.1
exon_skip_128805	15	70345565:70345713:70346776:70347024:70347387:70347602	70346776:70347024	ENSG00000140332.11	ENST00000558939.1,ENST00000442299.2,ENST00000317509.8,ENST00000557919.1,ENST00000560589.1,ENST00000559929.1,ENST00000559048.1,ENST00000560939.1,ENST00000557997.1,ENST00000561453.1,ENST00000539550.1,ENST00000558201.1,ENST00000440567.3,ENST00000559191.1,ENS
exon_skip_128808	15	70347387:70347637:70348636:70348713:70349797:70349997	70348636:70348713	ENSG00000140332.11	ENST00000558939.1,ENST00000317509.8,ENST00000560525.1,ENST00000560589.1,ENST00000559929.1,ENST00000560939.1,ENST00000558201.1,ENST00000440567.3,ENST00000451782.2
exon_skip_128809	15	70347387:70347637:70348636:70348713:70349812:70349858	70348636:70348713	ENSG00000140332.11	ENST00000442299.2,ENST00000559048.1,ENST00000557997.1,ENST00000539550.1,ENST00000559191.1,ENST00000557907.1,ENST00000558379.1
exon_skip_128811	15	70349812:70349997:70350488:70350630:70351001:70351154	70350488:70350630	ENSG00000140332.11	ENST00000558939.1,ENST00000560589.1,ENST00000559929.1,ENST00000559048.1,ENST00000561453.1,ENST00000558201.1,ENST00000558379.1
exon_skip_128812	15	70349812:70349997:70350497:70350630:70351001:70351154	70350497:70350630	ENSG00000140332.11	ENST00000442299.2,ENST00000557919.1,ENST00000560525.1,ENST00000560939.1,ENST00000557997.1,ENST00000440567.3,ENST00000557907.1,ENST00000451782.2
exon_skip_128813	15	70349812:70349997:70350524:70350630:70351001:70351154	70350524:70350630	ENSG00000140332.11	ENST00000317509.8,ENST00000539550.1
exon_skip_128814	15	70350524:70350630:70351001:70351154:70351748:70351799	70351001:70351154	ENSG00000140332.11	ENST00000558939.1,ENST00000442299.2,ENST00000317509.8,ENST00000557919.1,ENST00000560525.1,ENST00000560589.1,ENST00000559929.1,ENST00000559048.1,ENST00000560939.1,ENST00000557997.1,ENST00000561453.1,ENST00000539550.1,ENST00000558201.1,ENST00000440567.3,ENS
exon_skip_128817	15	70352868:70352988:70356792:70356809:70358352:70358554	70356792:70356809	ENSG00000140332.11	ENST00000558939.1,ENST00000317509.8,ENST00000557919.1,ENST00000560525.1,ENST00000560589.1,ENST00000559929.1,ENST00000559048.1,ENST00000560939.1,ENST00000557997.1,ENST00000561453.1,ENST00000539550.1,ENST00000558201.1,ENST00000440567.3,ENST00000557907.1,ENS
exon_skip_128825	15	70356792:70356809:70358352:70358554:70366871:70366934	70358352:70358554	ENSG00000140332.11	ENST00000559048.1,ENST00000560939.1
exon_skip_128826	15	70356792:70356809:70358352:70358557:70366871:70366934	70358352:70358557	ENSG00000140332.11	ENST00000558939.1,ENST00000317509.8,ENST00000557919.1,ENST00000560525.1,ENST00000560589.1,ENST00000557997.1,ENST00000561453.1,ENST00000558201.1,ENST00000440567.3,ENST00000557907.1,ENST00000558379.1,ENST00000451782.2
exon_skip_128831	15	70386870:70386915:70387916:70387980:70388499:70388600	70387916:70387980	ENSG00000140332.11	ENST00000558939.1,ENST00000442299.2,ENST00000317509.8,ENST00000557919.1,ENST00000560525.1,ENST00000559929.1,ENST00000559048.1,ENST00000560939.1,ENST00000557997.1,ENST00000561453.1,ENST00000558201.1,ENST00000440567.3,ENST00000557907.1,ENST00000558379.1,ENS
exon_skip_128832	15	70387916:70387980:70388499:70388600:70389113:70389137	70388499:70388600	ENSG00000140332.11	ENST00000442299.2,ENST00000317509.8,ENST00000557919.1,ENST00000560525.1,ENST00000559929.1,ENST00000557997.1,ENST00000561453.1,ENST00000557907.1,ENST00000558379.1,ENST00000451782.2

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 TLE3

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
ENST00000558939	70343729	70343806	Frame-shift
ENST00000558939	70344712	70344863	Frame-shift
ENST00000558939	70346776	70347024	Frame-shift
ENST00000558939	70348636	70348713	Frame-shift
ENST00000558939	70350488	70350630	Frame-shift
ENST00000558939	70356792	70356809	Frame-shift
ENST00000558939	70358352	70358557	Frame-shift
ENST00000558939	70387916	70387980	Frame-shift
ENST00000558939	70351001	70351154	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
ENST00000558939	70343729	70343806	Frame-shift
ENST00000558939	70344712	70344863	Frame-shift
ENST00000558939	70346776	70347024	Frame-shift
ENST00000558939	70348636	70348713	Frame-shift
ENST00000558939	70350488	70350630	Frame-shift
ENST00000558939	70356792	70356809	Frame-shift
ENST00000558939	70358352	70358557	Frame-shift
ENST00000558939	70387916	70387980	Frame-shift
ENST00000558939	70351001	70351154	In-frame

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Infer the effects of exon skipping event on protein functional features for TLE3

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
ENST00000558939	6021	772	70351001	70351154	2144	2296	255	306

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
ENST00000558939	6021	772	70351001	70351154	2144	2296	255	306

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
Q04726	255	306	1	772	Chain	ID=PRO_0000051280;Note=Transducin-like enhancer protein 3
Q04726	255	306	259	259	Modified residue	Note=Phosphothreonine;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:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,P
Q04726	255	306	263	263	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID
Q04726	255	306	267	267	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID
Q04726	255	306	275	275	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q04727
Q04726	255	306	286	286	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:1
Q04726	255	306	200	268	Region	Note=CcN domain;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q04724
Q04726	255	306	269	452	Region	Note=SP domain;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q04724

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
Q04726	255	306	1	772	Chain	ID=PRO_0000051280;Note=Transducin-like enhancer protein 3
Q04726	255	306	259	259	Modified residue	Note=Phosphothreonine;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:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,P
Q04726	255	306	263	263	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID
Q04726	255	306	267	267	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID
Q04726	255	306	275	275	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q04727
Q04726	255	306	286	286	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:1
Q04726	255	306	200	268	Region	Note=CcN domain;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q04724
Q04726	255	306	269	452	Region	Note=SP domain;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q04724

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SNVs in the skipped exons for TLE3

- 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-A1EG-01	exon_skip_128825	70358353	70358554	70358457	70358457	Frame_Shift_Del	G	-	p.P158fs
LIHC	TCGA-DD-A1EG-01	exon_skip_128826	70358353	70358557	70358457	70358457	Frame_Shift_Del	G	-	p.P158fs
LIHC	TCGA-DD-A3A0-01	exon_skip_128825	70358353	70358554	70358457	70358457	Frame_Shift_Del	G	-	p.P158fs
LIHC	TCGA-DD-A3A0-01	exon_skip_128826	70358353	70358557	70358457	70358457	Frame_Shift_Del	G	-	p.P158fs
LIHC	TCGA-DD-A3A0-01	exon_skip_128825	70358353	70358554	70358508	70358508	Frame_Shift_Del	G	-	p.P141fs
LIHC	TCGA-DD-A3A0-01	exon_skip_128826	70358353	70358557	70358508	70358508	Frame_Shift_Del	G	-	p.P141fs
KIRC	TCGA-A3-3331-01	exon_skip_128808 exon_skip_128809	70348637	70348713	70348690	70348691	Frame_Shift_Ins	-	G	p.H428fs
PAAD	TCGA-HZ-7289-01	exon_skip_128814	70351002	70351154	70351067	70351068	Frame_Shift_Ins	-	G	p.Q285fs
COAD	TCGA-G4-6320-01	exon_skip_128814	70351002	70351154	70351076	70351077	Frame_Shift_Ins	-	T	p.D282fs
ESCA	TCGA-R6-A6Y2-01	exon_skip_128800	70343730	70343806	70343732	70343732	Nonsense_Mutation	G	A	p.Q737*
ESCA	TCGA-R6-A6Y2-01	exon_skip_128800	70343730	70343806	70343732	70343732	Nonsense_Mutation	G	A	p.Q737X

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

Depth of coverage in three exons

Mutation description

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

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
2313287_STOMACH	70346777	70347019	70346913	70346913	Frame_Shift_Del	G	-	p.R567fs
2313287_STOMACH	70346777	70347024	70346913	70346913	Frame_Shift_Del	G	-	p.R567fs
HCT15_LARGE_INTESTINE	70343730	70343806	70343743	70343743	Missense_Mutation	G	A	p.A733V
GP2D_LARGE_INTESTINE	70343730	70343806	70343756	70343756	Missense_Mutation	T	C	p.T729A
GP5D_LARGE_INTESTINE	70343730	70343806	70343756	70343756	Missense_Mutation	T	C	p.T729A
SKNFI_AUTONOMIC_GANGLIA	70344713	70344863	70344722	70344722	Missense_Mutation	C	A	p.A709S
NCIH1563_LUNG	70346777	70347019	70346792	70346792	Missense_Mutation	T	G	p.N607T
NCIH1563_LUNG	70346777	70347024	70346792	70346792	Missense_Mutation	T	G	p.N607T
JHOC5_OVARY	70346777	70347019	70346814	70346814	Missense_Mutation	T	C	p.I600V
JHOC5_OVARY	70346777	70347024	70346814	70346814	Missense_Mutation	T	C	p.I600V
CCK81_LARGE_INTESTINE	70346777	70347019	70346814	70346814	Missense_Mutation	T	C	p.I600V
CCK81_LARGE_INTESTINE	70346777	70347024	70346814	70346814	Missense_Mutation	T	C	p.I600V
SNU1040_LARGE_INTESTINE	70346777	70347019	70346850	70346850	Missense_Mutation	C	T	p.A588T
SNU1040_LARGE_INTESTINE	70346777	70347024	70346850	70346850	Missense_Mutation	C	T	p.A588T
MCC142_SKIN	70346777	70347019	70346888	70346888	Missense_Mutation	G	A	p.S575L
MCC142_SKIN	70346777	70347024	70346888	70346888	Missense_Mutation	G	A	p.S575L
NUGC3_STOMACH	70346777	70347019	70346905	70346905	Missense_Mutation	C	A	p.K569N
NUGC3_STOMACH	70346777	70347024	70346905	70346905	Missense_Mutation	C	A	p.K569N
HCT15_LARGE_INTESTINE	70346777	70347019	70346928	70346928	Missense_Mutation	C	A	p.A562S
HCT15_LARGE_INTESTINE	70346777	70347024	70346928	70346928	Missense_Mutation	C	A	p.A562S
HT115_LARGE_INTESTINE	70346777	70347019	70347011	70347011	Missense_Mutation	T	C	p.Y534C
HT115_LARGE_INTESTINE	70346777	70347024	70347011	70347011	Missense_Mutation	T	C	p.Y534C
CHP134_AUTONOMIC_GANGLIA	70350498	70350630	70350498	70350498	Missense_Mutation	C	T	p.G351S
CHP134_AUTONOMIC_GANGLIA	70350489	70350630	70350498	70350498	Missense_Mutation	C	T	p.G351S
MFE296_ENDOMETRIUM	70350498	70350630	70350501	70350501	Missense_Mutation	T	G	p.I350L
MFE296_ENDOMETRIUM	70350489	70350630	70350501	70350501	Missense_Mutation	T	G	p.I350L
KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70350498	70350630	70350504	70350504	Missense_Mutation	G	T	p.P349T
KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70350489	70350630	70350504	70350504	Missense_Mutation	G	T	p.P349T
YAPC_PANCREAS	70350525	70350630	70350527	70350527	Missense_Mutation	G	T	p.P341Q
YAPC_PANCREAS	70350498	70350630	70350527	70350527	Missense_Mutation	G	T	p.P341Q
YAPC_PANCREAS	70350489	70350630	70350527	70350527	Missense_Mutation	G	T	p.P341Q
MM370_SKIN	70350525	70350630	70350563	70350563	Missense_Mutation	G	A	p.P329L
MM370_SKIN	70350498	70350630	70350563	70350563	Missense_Mutation	G	A	p.P329L
MM370_SKIN	70350489	70350630	70350563	70350563	Missense_Mutation	G	A	p.P329L
RKO_LARGE_INTESTINE	70350525	70350630	70350575	70350575	Missense_Mutation	T	C	p.D325G
RKO_LARGE_INTESTINE	70350498	70350630	70350575	70350575	Missense_Mutation	T	C	p.D325G
RKO_LARGE_INTESTINE	70350489	70350630	70350575	70350575	Missense_Mutation	T	C	p.D325G
HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70351002	70351154	70351024	70351024	Missense_Mutation	G	A	p.S299F
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70351002	70351154	70351148	70351148	Missense_Mutation	C	T	p.A258T
SNU1040_LARGE_INTESTINE	70351002	70351154	70351148	70351148	Missense_Mutation	C	T	p.A258T
MFE319_ENDOMETRIUM	70358353	70358557	70358358	70358358	Missense_Mutation	T	C	p.H191R
MFE319_ENDOMETRIUM	70358353	70358554	70358358	70358358	Missense_Mutation	T	C	p.H191R
A253_SALIVARY_GLAND	70358353	70358557	70358381	70358381	Missense_Mutation	C	G	p.E183D
A253_SALIVARY_GLAND	70358353	70358554	70358381	70358381	Missense_Mutation	C	G	p.E183D
DU145_PROSTATE	70358353	70358557	70358392	70358392	Missense_Mutation	C	T	p.V180M
DU145_PROSTATE	70358353	70358554	70358392	70358392	Missense_Mutation	C	T	p.V180M
LS411N_LARGE_INTESTINE	70358353	70358557	70358458	70358458	Missense_Mutation	G	T	p.P158T
LS411N_LARGE_INTESTINE	70358353	70358554	70358458	70358458	Missense_Mutation	G	T	p.P158T
SNU81_LARGE_INTESTINE	70358353	70358557	70358500	70358500	Missense_Mutation	A	C	p.L144V
SNU81_LARGE_INTESTINE	70358353	70358554	70358500	70358500	Missense_Mutation	A	C	p.L144V
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70358353	70358557	70358541	70358541	Missense_Mutation	G	A	p.A130V
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70358353	70358554	70358541	70358541	Missense_Mutation	G	A	p.A130V
SNU1040_LARGE_INTESTINE	70344713	70344863	70344714	70344714	Splice_Site	G	A	p.C711C
LOXIMVI_SKIN	70348637	70348713	70348638	70348638	Splice_Site	G	A	p.P446S
GOTO_AUTONOMIC_GANGLIA	70348637	70348713	70348712	70348712	Splice_Site	A	G	p.V421A
OSRC2_KIDNEY	70356793	70356809	70356794	70356794	Splice_Site	G	A	p.A198V
NBSUSSR_AUTONOMIC_GANGLIA	70356793	70356809	70356794	70356794	Splice_Site	G	A	p.A198V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TLE3

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 TLE3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TLE3

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RelatedDrugs for TLE3

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 TLE3

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
TLE3	C0003873	Rheumatoid Arthritis	1	CTD_human
TLE3	C1458155	Mammary Neoplasms	1	CTD_human
TLE3	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	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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