ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TCF7L2

Gene summary

Gene information	Gene symbol	TCF7L2
	Gene ID	6934
	Gene name	transcription factor 7 like 2
	Synonyms	TCF-4\|TCF4
	Cytomap	10q25.2-q25.3
	Type of gene	protein-coding
	Description	transcription factor 7-like 2HMG box transcription factor 4T-cell factor 4T-cell-specific transcription factor 4hTCF-4transcription factor 7-like 2 (T-cell specific, HMG-box)
	Modification date	20180527
	UniProtAcc	Q9NQB0
	Context	PubMed: TCF7L2 [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
TCF7L2	GO:0000122	negative regulation of transcription by RNA polymerase II	12799378
TCF7L2	GO:0006357	regulation of transcription by RNA polymerase II	9727977
TCF7L2	GO:0032092	positive regulation of protein binding	12799378
TCF7L2	GO:0032350	regulation of hormone metabolic process	15525634
TCF7L2	GO:0042593	glucose homeostasis	15525634
TCF7L2	GO:0043433	negative regulation of DNA binding transcription factor activity	12799378
TCF7L2	GO:0045444	fat cell differentiation	10937998
TCF7L2	GO:0045892	negative regulation of transcription, DNA-templated	12799378\|15525634
TCF7L2	GO:0045944	positive regulation of transcription by RNA polymerase II	9065401\|19168596
TCF7L2	GO:0048625	myoblast fate commitment	10937998

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Exon skipping events across known transcript of Ensembl for TCF7L2 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 TCF7L2

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 TCF7L2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_45120	10	114710965:114711032:114711241:114711366:114724314:114724383	114711241:114711366	ENSG00000148737.11	ENST00000346198.4,ENST00000543371.1,ENST00000545257.1,ENST00000538897.1,ENST00000536810.1,ENST00000349937.2,ENST00000355995.4,ENST00000534894.1
exon_skip_45121	10	114710965:114711032:114711241:114711366:114799783:114799885	114711241:114711366	ENSG00000148737.11	ENST00000369395.1,ENST00000355717.4,ENST00000542695.1,ENST00000369397.4,ENST00000352065.5
exon_skip_45125	10	114711249:114711366:114724314:114724383:114799783:114799885	114724314:114724383	ENSG00000148737.11	ENST00000346198.4,ENST00000543371.1,ENST00000545257.1,ENST00000538897.1,ENST00000536810.1,ENST00000349937.2,ENST00000355995.4,ENST00000534894.1
exon_skip_45128	10	114711241:114711366:114799783:114799885:114900942:114901075	114799783:114799885	ENSG00000148737.11	ENST00000369397.4,ENST00000352065.5
exon_skip_45130	10	114724314:114724383:114799783:114799885:114900942:114901075	114799783:114799885	ENSG00000148737.11	ENST00000543371.1,ENST00000545257.1,ENST00000538897.1,ENST00000536810.1,ENST00000349937.2,ENST00000355995.4,ENST00000534894.1
exon_skip_45131	10	114799783:114799885:114849155:114849299:114900942:114901075	114849155:114849299	ENSG00000148737.11	ENST00000369395.1
exon_skip_45132	10	114799783:114799885:114849158:114849299:114900942:114901075	114849158:114849299	ENSG00000148737.11	ENST00000346198.4,ENST00000355717.4
exon_skip_45133	10	114799783:114799885:114893835:114893949:114900942:114901075	114893835:114893949	ENSG00000148737.11	ENST00000542695.1
exon_skip_45134	10	114799783:114799885:114900942:114901075:114903681:114903772	114900942:114901075	ENSG00000148737.11	ENST00000543371.1,ENST00000545257.1,ENST00000538897.1,ENST00000536810.1,ENST00000349937.2,ENST00000355995.4,ENST00000369397.4,ENST00000534894.1,ENST00000352065.5
exon_skip_45139	10	114917795:114917828:114918425:114918476:114919678:114919751	114918425:114918476	ENSG00000148737.11	ENST00000542695.1,ENST00000476887.1,ENST00000355995.4,ENST00000369397.4,ENST00000534894.1,ENST00000352065.5
exon_skip_45140	10	114917795:114917828:114918425:114918476:114920377:114920420	114918425:114918476	ENSG00000148737.11	ENST00000545257.1
exon_skip_45141	10	114917795:114917828:114918425:114918476:114925313:114925346	114918425:114918476	ENSG00000148737.11	ENST00000538897.1
exon_skip_45145	10	114917795:114917828:114919678:114919751:114920377:114920420	114919678:114919751	ENSG00000148737.11	ENST00000470254.1,ENST00000369386.1
exon_skip_45146	10	114917795:114917828:114919678:114919751:114925313:114925346	114919678:114919751	ENSG00000148737.11	ENST00000277945.7,ENST00000536810.1
exon_skip_45148	10	114917795:114917828:114920377:114920450:114925313:114925346	114920377:114920450	ENSG00000148737.11	ENST00000543371.1
exon_skip_45150	10	114918425:114918476:114919678:114919751:114920377:114920420	114919678:114919751	ENSG00000148737.11	ENST00000476887.1,ENST00000534894.1
exon_skip_45151	10	114918425:114918476:114919678:114919751:114925313:114925346	114919678:114919751	ENSG00000148737.11	ENST00000542695.1,ENST00000355995.4,ENST00000369397.4
exon_skip_45153	10	114918425:114918476:114920377:114920450:114925313:114925346	114920377:114920450	ENSG00000148737.11	ENST00000545257.1
exon_skip_45155	10	114919678:114919751:114920377:114920450:114921337:114921362	114920377:114920450	ENSG00000148737.11	ENST00000470254.1
exon_skip_45157	10	114919678:114919751:114920377:114920450:114925313:114925346	114920377:114920450	ENSG00000148737.11	ENST00000476887.1,ENST00000369386.1
exon_skip_45159	10	114919678:114919751:114921337:114921362:114925313:114925346	114921337:114921362	ENSG00000148737.11	ENST00000352065.5
exon_skip_45161	10	114920377:114920450:114921337:114921362:114925313:114925346	114921337:114921362	ENSG00000148737.11	ENST00000470254.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TCF7L2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_45120	10	114710965:114711032:114711241:114711366:114724314:114724383	114711241:114711366	ENSG00000148737.11	ENST00000355995.4,ENST00000545257.1,ENST00000543371.1,ENST00000536810.1,ENST00000538897.1,ENST00000534894.1,ENST00000349937.2,ENST00000346198.4
exon_skip_45121	10	114710965:114711032:114711241:114711366:114799783:114799885	114711241:114711366	ENSG00000148737.11	ENST00000355717.4,ENST00000369397.4,ENST00000352065.5,ENST00000369395.1,ENST00000542695.1
exon_skip_45125	10	114711249:114711366:114724314:114724383:114799783:114799885	114724314:114724383	ENSG00000148737.11	ENST00000355995.4,ENST00000545257.1,ENST00000543371.1,ENST00000536810.1,ENST00000538897.1,ENST00000534894.1,ENST00000349937.2,ENST00000346198.4
exon_skip_45128	10	114711241:114711366:114799783:114799885:114900942:114901075	114799783:114799885	ENSG00000148737.11	ENST00000369397.4,ENST00000352065.5
exon_skip_45130	10	114724314:114724383:114799783:114799885:114900942:114901075	114799783:114799885	ENSG00000148737.11	ENST00000355995.4,ENST00000545257.1,ENST00000543371.1,ENST00000536810.1,ENST00000538897.1,ENST00000534894.1,ENST00000349937.2
exon_skip_45131	10	114799783:114799885:114849155:114849299:114900942:114901075	114849155:114849299	ENSG00000148737.11	ENST00000369395.1
exon_skip_45132	10	114799783:114799885:114849158:114849299:114900942:114901075	114849158:114849299	ENSG00000148737.11	ENST00000355717.4,ENST00000346198.4
exon_skip_45133	10	114799783:114799885:114893835:114893949:114900942:114901075	114893835:114893949	ENSG00000148737.11	ENST00000542695.1
exon_skip_45134	10	114799783:114799885:114900942:114901075:114903681:114903772	114900942:114901075	ENSG00000148737.11	ENST00000355995.4,ENST00000545257.1,ENST00000543371.1,ENST00000536810.1,ENST00000538897.1,ENST00000534894.1,ENST00000349937.2,ENST00000369397.4,ENST00000352065.5
exon_skip_45139	10	114917795:114917828:114918425:114918476:114919678:114919751	114918425:114918476	ENSG00000148737.11	ENST00000355995.4,ENST00000534894.1,ENST00000369397.4,ENST00000352065.5,ENST00000542695.1,ENST00000476887.1
exon_skip_45140	10	114917795:114917828:114918425:114918476:114920377:114920420	114918425:114918476	ENSG00000148737.11	ENST00000545257.1
exon_skip_45141	10	114917795:114917828:114918425:114918476:114925313:114925346	114918425:114918476	ENSG00000148737.11	ENST00000538897.1
exon_skip_45145	10	114917795:114917828:114919678:114919751:114920377:114920420	114919678:114919751	ENSG00000148737.11	ENST00000369386.1,ENST00000470254.1
exon_skip_45146	10	114917795:114917828:114919678:114919751:114925313:114925346	114919678:114919751	ENSG00000148737.11	ENST00000536810.1,ENST00000277945.7
exon_skip_45148	10	114917795:114917828:114920377:114920450:114925313:114925346	114920377:114920450	ENSG00000148737.11	ENST00000543371.1
exon_skip_45150	10	114918425:114918476:114919678:114919751:114920377:114920420	114919678:114919751	ENSG00000148737.11	ENST00000534894.1,ENST00000476887.1
exon_skip_45151	10	114918425:114918476:114919678:114919751:114925313:114925346	114919678:114919751	ENSG00000148737.11	ENST00000355995.4,ENST00000369397.4,ENST00000542695.1
exon_skip_45153	10	114918425:114918476:114920377:114920450:114925313:114925346	114920377:114920450	ENSG00000148737.11	ENST00000545257.1
exon_skip_45155	10	114919678:114919751:114920377:114920450:114921337:114921362	114920377:114920450	ENSG00000148737.11	ENST00000470254.1
exon_skip_45157	10	114919678:114919751:114920377:114920450:114925313:114925346	114920377:114920450	ENSG00000148737.11	ENST00000369386.1,ENST00000476887.1
exon_skip_45159	10	114919678:114919751:114921337:114921362:114925313:114925346	114921337:114921362	ENSG00000148737.11	ENST00000352065.5
exon_skip_45161	10	114920377:114920450:114921337:114921362:114925313:114925346	114921337:114921362	ENSG00000148737.11	ENST00000470254.1

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 TCF7L2

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
ENST00000355995	114711241	114711366	Frame-shift
ENST00000355995	114900942	114901075	Frame-shift
ENST00000355995	114919678	114919751	Frame-shift
ENST00000355995	114724314	114724383	In-frame
ENST00000355995	114799783	114799885	In-frame
ENST00000355995	114918425	114918476	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
ENST00000355995	114711241	114711366	Frame-shift
ENST00000355995	114900942	114901075	Frame-shift
ENST00000355995	114919678	114919751	Frame-shift
ENST00000355995	114724314	114724383	In-frame
ENST00000355995	114799783	114799885	In-frame
ENST00000355995	114918425	114918476	In-frame

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Infer the effects of exon skipping event on protein functional features for TCF7L2

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
ENST00000355995	4090	619	114724314	114724383	889	957	127	150
ENST00000355995	4090	619	114799783	114799885	958	1059	150	184
ENST00000355995	4090	619	114918425	114918476	1826	1876	439	456

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
ENST00000355995	4090	619	114724314	114724383	889	957	127	150
ENST00000355995	4090	619	114799783	114799885	958	1059	150	184
ENST00000355995	4090	619	114918425	114918476	1826	1876	439	456

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

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

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SNVs in the skipped exons for TCF7L2

- 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.

TCF7L2_STAD_exon_skip_45131_psi_boxplot.png
boxplot

TCF7L2_STAD_exon_skip_45132_psi_boxplot.png
boxplot

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-G3-A3CJ-01	exon_skip_45120 exon_skip_45121	114711242	114711366	114711262	114711262	Frame_Shift_Del	G	-	p.G93fs
LIHC	TCGA-DD-A39Y-01	exon_skip_45120 exon_skip_45121	114711242	114711366	114711294	114711294	Frame_Shift_Del	C	-	p.Y103fs
STAD	TCGA-CG-4305-01	exon_skip_45132 exon_skip_45131	114849156	114849299	114849206	114849206	Frame_Shift_Del	C	-	p.Y177fs
STAD	TCGA-CG-4305-01	exon_skip_45132 exon_skip_45131	114849159	114849299	114849206	114849206	Frame_Shift_Del	C	-	p.Y177fs
STAD	TCGA-HU-A4GT-01	exon_skip_45132 exon_skip_45131	114849156	114849299	114849206	114849206	Frame_Shift_Del	C	-	p.Y177fs
STAD	TCGA-HU-A4GT-01	exon_skip_45132 exon_skip_45131	114849159	114849299	114849206	114849206	Frame_Shift_Del	C	-	p.Y177fs
LIHC	TCGA-DD-A39Y-01	exon_skip_45132 exon_skip_45131	114849156	114849299	114849271	114849271	Frame_Shift_Del	A	-	p.Q199fs
LIHC	TCGA-DD-A39Y-01	exon_skip_45132 exon_skip_45131	114849159	114849299	114849271	114849271	Frame_Shift_Del	A	-	p.Q199fs
COAD	TCGA-AU-6004-01	exon_skip_45134	114900943	114901075	114900984	114900984	Frame_Shift_Del	C	-	p.H198fs
COAD	TCGA-AY-6197-01	exon_skip_45134	114900943	114901075	114900984	114900984	Frame_Shift_Del	C	-	p.H198fs
COAD	TCGA-G4-6320-01	exon_skip_45134	114900943	114901075	114900984	114900984	Frame_Shift_Del	C	-	p.H175fs
LIHC	TCGA-4R-AA8I-01	exon_skip_45134	114900943	114901075	114900984	114900984	Frame_Shift_Del	C	-	p.H222fs
UCS	TCGA-N7-A4Y0-01	exon_skip_45134	114900943	114901075	114900983	114900984	Frame_Shift_Ins	-	C	p.H222fs
UCS	TCGA-N7-A4Y0-01	exon_skip_45134	114900943	114901075	114900983	114900984	Frame_Shift_Ins	-	C	p.P198fs
READ	TCGA-AF-2692-01	exon_skip_45134	114900943	114901075	114901049	114901050	Frame_Shift_Ins	-	A	p.L197fs
ACC	TCGA-OR-A5L2-01	exon_skip_45120 exon_skip_45121	114711242	114711366	114711350	114711350	Nonsense_Mutation	C	A	p.S122*
ACC	TCGA-OR-A5L2-01	exon_skip_45120 exon_skip_45121	114711242	114711366	114711350	114711350	Nonsense_Mutation	C	A	p.S122X
COAD	TCGA-CM-6678-01	exon_skip_45148 exon_skip_45153 exon_skip_45157 exon_skip_45155	114920378	114920450	114920422	114920422	Nonsense_Mutation	C	T	p.R432X
COAD	TCGA-G4-6293-01	exon_skip_45120 exon_skip_45121	114711242	114711366	114711367	114711368	Splice_Site	-	T	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CM-6678-01
	Cancer type: COAD
	ESID: exon_skip_45155
	Skipped exon start: 114920378
	Skipped exon end: 114920450
	Mutation start: 114920422
	Mutation end: 114920422
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R432X
exon_skip_45148_COAD_TCGA-CM-6678-01.png
	Sample: TCGA-CG-4305-01
	Cancer type: STAD
	ESID: exon_skip_45131
	Skipped exon start: 114849159
	Skipped exon end: 114849299
	Mutation start: 114849206
	Mutation end: 114849206
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.Y177fs
	Sample: TCGA-CG-4305-01
	Cancer type: STAD
	ESID: exon_skip_45131
	Skipped exon start: 114849156
	Skipped exon end: 114849299
	Mutation start: 114849206
	Mutation end: 114849206
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.Y177fs
exon_skip_111824_STAD_TCGA-CG-4305-01.png
exon_skip_111829_STAD_TCGA-CG-4305-01.png
exon_skip_146150_STAD_TCGA-CG-4305-01.png
exon_skip_290798_STAD_TCGA-CG-4305-01.png
exon_skip_301298_STAD_TCGA-CG-4305-01.png
exon_skip_306904_STAD_TCGA-CG-4305-01.png
exon_skip_331098_STAD_TCGA-CG-4305-01.png
exon_skip_340412_STAD_TCGA-CG-4305-01.png
exon_skip_340419_STAD_TCGA-CG-4305-01.png
exon_skip_361126_STAD_TCGA-CG-4305-01.png
exon_skip_382354_STAD_TCGA-CG-4305-01.png
exon_skip_423582_STAD_TCGA-CG-4305-01.png
exon_skip_45131_STAD_TCGA-CG-4305-01.png
exon_skip_45132_STAD_TCGA-CG-4305-01.png
exon_skip_6108_STAD_TCGA-CG-4305-01.png
exon_skip_64984_STAD_TCGA-CG-4305-01.png
	Sample: TCGA-HU-A4GT-01
	Cancer type: STAD
	ESID: exon_skip_45131
	Skipped exon start: 114849159
	Skipped exon end: 114849299
	Mutation start: 114849206
	Mutation end: 114849206
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.Y177fs
	Sample: TCGA-HU-A4GT-01
	Cancer type: STAD
	ESID: exon_skip_45131
	Skipped exon start: 114849156
	Skipped exon end: 114849299
	Mutation start: 114849206
	Mutation end: 114849206
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.Y177fs
exon_skip_121685_STAD_TCGA-HU-A4GT-01.png
exon_skip_135112_STAD_TCGA-HU-A4GT-01.png
exon_skip_135114_STAD_TCGA-HU-A4GT-01.png
exon_skip_295812_STAD_TCGA-HU-A4GT-01.png
exon_skip_310114_STAD_TCGA-HU-A4GT-01.png
exon_skip_314971_STAD_TCGA-HU-A4GT-01.png
exon_skip_328008_STAD_TCGA-HU-A4GT-01.png
exon_skip_347979_STAD_TCGA-HU-A4GT-01.png
exon_skip_347981_STAD_TCGA-HU-A4GT-01.png
exon_skip_45131_STAD_TCGA-HU-A4GT-01.png
exon_skip_45132_STAD_TCGA-HU-A4GT-01.png
exon_skip_65658_STAD_TCGA-HU-A4GT-01.png
exon_skip_86427_STAD_TCGA-HU-A4GT-01.png
	Sample: TCGA-CG-4305-01
	Cancer type: STAD
	ESID: exon_skip_45131
	Skipped exon start: 114849159
	Skipped exon end: 114849299
	Mutation start: 114849206
	Mutation end: 114849206
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.Y177fs
	Sample: TCGA-CG-4305-01
	Cancer type: STAD
	ESID: exon_skip_45131
	Skipped exon start: 114849156
	Skipped exon end: 114849299
	Mutation start: 114849206
	Mutation end: 114849206
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.Y177fs
exon_skip_111824_STAD_TCGA-CG-4305-01.png
exon_skip_111829_STAD_TCGA-CG-4305-01.png
exon_skip_146150_STAD_TCGA-CG-4305-01.png
exon_skip_290798_STAD_TCGA-CG-4305-01.png
exon_skip_301298_STAD_TCGA-CG-4305-01.png
exon_skip_306904_STAD_TCGA-CG-4305-01.png
exon_skip_331098_STAD_TCGA-CG-4305-01.png
exon_skip_340412_STAD_TCGA-CG-4305-01.png
exon_skip_340419_STAD_TCGA-CG-4305-01.png
exon_skip_361126_STAD_TCGA-CG-4305-01.png
exon_skip_382354_STAD_TCGA-CG-4305-01.png
exon_skip_423582_STAD_TCGA-CG-4305-01.png
exon_skip_45131_STAD_TCGA-CG-4305-01.png
exon_skip_45132_STAD_TCGA-CG-4305-01.png
exon_skip_6108_STAD_TCGA-CG-4305-01.png
exon_skip_64984_STAD_TCGA-CG-4305-01.png
	Sample: TCGA-HU-A4GT-01
	Cancer type: STAD
	ESID: exon_skip_45131
	Skipped exon start: 114849159
	Skipped exon end: 114849299
	Mutation start: 114849206
	Mutation end: 114849206
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.Y177fs
	Sample: TCGA-HU-A4GT-01
	Cancer type: STAD
	ESID: exon_skip_45131
	Skipped exon start: 114849156
	Skipped exon end: 114849299
	Mutation start: 114849206
	Mutation end: 114849206
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.Y177fs
exon_skip_121685_STAD_TCGA-HU-A4GT-01.png
exon_skip_135112_STAD_TCGA-HU-A4GT-01.png
exon_skip_135114_STAD_TCGA-HU-A4GT-01.png
exon_skip_295812_STAD_TCGA-HU-A4GT-01.png
exon_skip_310114_STAD_TCGA-HU-A4GT-01.png
exon_skip_314971_STAD_TCGA-HU-A4GT-01.png
exon_skip_328008_STAD_TCGA-HU-A4GT-01.png
exon_skip_347979_STAD_TCGA-HU-A4GT-01.png
exon_skip_347981_STAD_TCGA-HU-A4GT-01.png
exon_skip_45131_STAD_TCGA-HU-A4GT-01.png
exon_skip_45132_STAD_TCGA-HU-A4GT-01.png
exon_skip_65658_STAD_TCGA-HU-A4GT-01.png
exon_skip_86427_STAD_TCGA-HU-A4GT-01.png
	Sample: TCGA-G4-6293-01
	Cancer type: COAD
	ESID: exon_skip_45121
	Skipped exon start: 114711242
	Skipped exon end: 114711366
	Mutation start: 114711367
	Mutation end: 114711368
	Mutation type: Splice_Site
	Reference seq: -
	Mutation seq: T
	AAchange: .
exon_skip_45120_COAD_TCGA-G4-6293-01.png
exon_skip_45121_COAD_TCGA-G4-6293-01.png
	Sample: TCGA-G4-6293-01
	Cancer type: COAD
	ESID: exon_skip_45121
	Skipped exon start: 114711242
	Skipped exon end: 114711366
	Mutation start: 114711367
	Mutation end: 114711368
	Mutation type: Splice_Site
	Reference seq: -
	Mutation seq: T
	AAchange: .
exon_skip_45120_COAD_TCGA-G4-6293-01.png
exon_skip_45121_COAD_TCGA-G4-6293-01.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
MFE319_ENDOMETRIUM	114900943	114901075	114900984	114900984	Frame_Shift_Del	C	-	p.H198fs
JHUEM2_ENDOMETRIUM	114711242	114711366	114711244	114711244	Missense_Mutation	G	A	p.A87T
PCI15A_UPPER_AERODIGESTIVE_TRACT	114711242	114711366	114711293	114711293	Missense_Mutation	A	C	p.Y103S
NCIH2106_LUNG	114711242	114711366	114711353	114711353	Missense_Mutation	C	T	p.P123L
SW48_LARGE_INTESTINE	114724315	114724383	114724349	114724349	Missense_Mutation	C	T	p.A139V
NUGC3_STOMACH	114724315	114724383	114724358	114724358	Missense_Mutation	C	T	p.T142M
NUGC3_STOMACH	114724315	114724383	114724366	114724366	Missense_Mutation	C	T	p.H145Y
BICR18_UPPER_AERODIGESTIVE_TRACT	114724315	114724383	114724378	114724378	Missense_Mutation	G	A	p.V149I
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114799784	114799885	114799802	114799802	Missense_Mutation	C	T	p.P157S
CL34_LARGE_INTESTINE	114900943	114901075	114900988	114900988	Missense_Mutation	C	A	p.L200I
DOTC24510_CERVIX	114900943	114901075	114901009	114901009	Missense_Mutation	A	T	p.S207C
SKMM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114900943	114901075	114901054	114901054	Missense_Mutation	G	T	p.A222S
L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	114918426	114918476	114918441	114918441	Missense_Mutation	T	A	p.F445Y
SKOV3_OVARY	114919679	114919751	114919733	114919733	Missense_Mutation	A	G	p.N475S
SNU1040_LARGE_INTESTINE	114919679	114919751	114919748	114919748	Missense_Mutation	G	A	p.C480Y
GP2D_LARGE_INTESTINE	114799784	114799885	114799800	114799800	Nonsense_Mutation	G	A	p.W156*
GP5D_LARGE_INTESTINE	114799784	114799885	114799800	114799800	Nonsense_Mutation	G	A	p.W156*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TCF7L2

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_45133	10	114799783:114799885:114893835:114893949:114900942:114901075	114893835:114893949	ENST00000542695.1	ESCA	rs10885418	chr10:114893953	A/C	1.27e-05
exon_skip_45133	10	114799783:114799885:114893835:114893949:114900942:114901075	114893835:114893949	ENST00000542695.1	OV	rs10885418	chr10:114893953	A/C	5.47e-04
exon_skip_45133	10	114799783:114799885:114893835:114893949:114900942:114901075	114893835:114893949	ENST00000542695.1	STAD	rs10885418	chr10:114893953	A/C	2.18e-09

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TCF7L2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TCF7L2

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RelatedDrugs for TCF7L2

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 TCF7L2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
TCF7L2	C0036341	Schizophrenia	4	PSYGENET
TCF7L2	C0009404	Colorectal Neoplasms	2	CTD_human
TCF7L2	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	2	CTD_human
TCF7L2	C0001418	Adenocarcinoma	1	CTD_human
TCF7L2	C0005586	Bipolar Disorder	1	PSYGENET
TCF7L2	C0009375	Colonic Neoplasms	1	CTD_human
TCF7L2	C0020507	Hyperplasia	1	CTD_human
TCF7L2	C0036337	Schizoaffective Disorder	1	PSYGENET
TCF7L2	C3495559	Juvenile arthritis	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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