ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TJP2

Gene summary

Gene information	Gene symbol	TJP2
	Gene ID	9414
	Gene name	tight junction protein 2
	Synonyms	C9DUPq21.11\|DFNA51\|DUP9q21.11\|PFIC4\|X104\|ZO2
	Cytomap	9q21.11
	Type of gene	protein-coding
	Description	tight junction protein ZO-2Friedreich ataxia region gene X104 (tight junction protein ZO-2)zona occludens 2zonula occludens protein 2
	Modification date	20180522
	UniProtAcc	Q9UDY2
	Context	PubMed: TJP2 [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 TJP2 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 TJP2

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 TJP2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_496315	9	71827463:71827517:71831254:71831379:71833172:71833275	71831254:71831379	ENSG00000119139.12	ENST00000348208.4,ENST00000606364.1,ENST00000265384.7,ENST00000539225.1,ENST00000535702.1,ENST00000423935.1,ENST00000453658.2,ENST00000377259.1,ENST00000377245.4
exon_skip_496317	9	71833172:71833275:71835802:71836412:71840219:71840323	71835802:71836412	ENSG00000119139.12	ENST00000348208.4,ENST00000265384.7,ENST00000539225.1,ENST00000535702.1,ENST00000453658.2,ENST00000377245.4
exon_skip_496318	9	71840219:71840323:71840937:71841091:71842680:71842789	71840937:71841091	ENSG00000119139.12	ENST00000348208.4,ENST00000265384.7,ENST00000539225.1,ENST00000535702.1,ENST00000453658.2,ENST00000377245.4
exon_skip_496320	9	71844997:71845148:71849354:71849463:71850943:71851154	71849354:71849463	ENSG00000119139.12	ENST00000348208.4,ENST00000265384.7,ENST00000539225.1,ENST00000535702.1,ENST00000453658.2,ENST00000377245.4
exon_skip_496322	9	71851864:71852052:71852793:71852889:71853625:71853705	71852793:71852889	ENSG00000119139.12	ENST00000348208.4,ENST00000265384.7,ENST00000539225.1,ENST00000535702.1,ENST00000453658.2,ENST00000377245.4
exon_skip_496324	9	71861605:71861706:71862927:71863140:71864290:71864401	71862927:71863140	ENSG00000119139.12	ENST00000539225.1,ENST00000377245.4
exon_skip_496325	9	71861605:71861706:71862927:71863140:71865950:71866280	71862927:71863140	ENSG00000119139.12	ENST00000535702.1
exon_skip_496326	9	71861605:71861706:71862927:71863140:71867730:71867816	71862927:71863140	ENSG00000119139.12	ENST00000348208.4,ENST00000453658.2
exon_skip_496332	9	71862927:71863140:71864290:71864401:71865950:71866029	71864290:71864401	ENSG00000119139.12	ENST00000539225.1,ENST00000377245.4
exon_skip_496342	9	71862927:71863140:71865950:71866280:71867730:71867816	71865950:71866280	ENSG00000119139.12	ENST00000535702.1
exon_skip_496349	9	71864290:71864401:71865950:71866280:71867730:71867816	71865950:71866280	ENSG00000119139.12	ENST00000539225.1,ENST00000377245.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TJP2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_496315	9	71827463:71827517:71831254:71831379:71833172:71833275	71831254:71831379	ENSG00000119139.12	ENST00000606364.1,ENST00000453658.2,ENST00000377259.1,ENST00000423935.1,ENST00000377245.4,ENST00000348208.4,ENST00000265384.7,ENST00000535702.1,ENST00000539225.1
exon_skip_496317	9	71833172:71833275:71835802:71836412:71840219:71840323	71835802:71836412	ENSG00000119139.12	ENST00000453658.2,ENST00000377245.4,ENST00000348208.4,ENST00000265384.7,ENST00000535702.1,ENST00000539225.1
exon_skip_496318	9	71840219:71840323:71840937:71841091:71842680:71842789	71840937:71841091	ENSG00000119139.12	ENST00000453658.2,ENST00000377245.4,ENST00000348208.4,ENST00000265384.7,ENST00000535702.1,ENST00000539225.1
exon_skip_496320	9	71844997:71845148:71849354:71849463:71850943:71851154	71849354:71849463	ENSG00000119139.12	ENST00000453658.2,ENST00000377245.4,ENST00000348208.4,ENST00000265384.7,ENST00000535702.1,ENST00000539225.1
exon_skip_496322	9	71851864:71852052:71852793:71852889:71853625:71853705	71852793:71852889	ENSG00000119139.12	ENST00000453658.2,ENST00000377245.4,ENST00000348208.4,ENST00000265384.7,ENST00000535702.1,ENST00000539225.1
exon_skip_496324	9	71861605:71861706:71862927:71863140:71864290:71864401	71862927:71863140	ENSG00000119139.12	ENST00000377245.4,ENST00000539225.1
exon_skip_496325	9	71861605:71861706:71862927:71863140:71865950:71866280	71862927:71863140	ENSG00000119139.12	ENST00000535702.1
exon_skip_496326	9	71861605:71861706:71862927:71863140:71867730:71867816	71862927:71863140	ENSG00000119139.12	ENST00000453658.2,ENST00000348208.4
exon_skip_496332	9	71862927:71863140:71864290:71864401:71865950:71866029	71864290:71864401	ENSG00000119139.12	ENST00000377245.4,ENST00000539225.1
exon_skip_496342	9	71862927:71863140:71865950:71866280:71867730:71867816	71865950:71866280	ENSG00000119139.12	ENST00000535702.1
exon_skip_496349	9	71864290:71864401:71865950:71866280:71867730:71867816	71865950:71866280	ENSG00000119139.12	ENST00000377245.4,ENST00000539225.1

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 TJP2

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
ENST00000377245	71831254	71831379	Frame-shift
ENST00000377245	71835802	71836412	Frame-shift
ENST00000377245	71840937	71841091	Frame-shift
ENST00000377245	71849354	71849463	Frame-shift
ENST00000377245	71852793	71852889	In-frame
ENST00000377245	71862927	71863140	In-frame
ENST00000377245	71864290	71864401	In-frame
ENST00000377245	71865950	71866280	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
ENST00000377245	71831254	71831379	Frame-shift
ENST00000377245	71835802	71836412	Frame-shift
ENST00000377245	71840937	71841091	Frame-shift
ENST00000377245	71849354	71849463	Frame-shift
ENST00000377245	71852793	71852889	In-frame
ENST00000377245	71862927	71863140	In-frame
ENST00000377245	71864290	71864401	In-frame
ENST00000377245	71865950	71866280	In-frame

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Infer the effects of exon skipping event on protein functional features for TJP2

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
ENST00000377245	4628	1190	71852793	71852889	2388	2483	726	758
ENST00000377245	4628	1190	71862927	71863140	2876	3088	889	960
ENST00000377245	4628	1190	71864290	71864401	3089	3199	960	997
ENST00000377245	4628	1190	71865950	71866280	3200	3529	997	1107

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
ENST00000377245	4628	1190	71852793	71852889	2388	2483	726	758
ENST00000377245	4628	1190	71862927	71863140	2876	3088	889	960
ENST00000377245	4628	1190	71864290	71864401	3089	3199	960	997
ENST00000377245	4628	1190	71865950	71866280	3200	3529	997	1107

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 TJP2

- 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.

TJP2_STAD_exon_skip_496317_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-DD-A3A0-01	exon_skip_496315	71831255	71831379	71831302	71831302	Frame_Shift_Del	C	-	p.N54fs
LIHC	TCGA-DD-A3A0-01	exon_skip_496317	71835803	71836412	71835877	71835877	Frame_Shift_Del	T	-	p.A139fs
STAD	TCGA-HU-A4H8-01	exon_skip_496317	71835803	71836412	71835953	71835953	Frame_Shift_Del	G	-	p.G165fs
STAD	TCGA-HU-A4H8-01	exon_skip_496317	71835803	71836412	71835953	71835953	Frame_Shift_Del	G	-	p.H195fs
PCPG	TCGA-QT-A5XP-01	exon_skip_496317	71835803	71836412	71836075	71836075	Frame_Shift_Del	G	-	p.L205fs
LUAD	TCGA-17-Z009-01	exon_skip_496317	71835803	71836412	71835952	71835953	Frame_Shift_Ins	-	G	p.QG164fs
STAD	TCGA-BR-6452-01	exon_skip_496317	71835803	71836412	71836211	71836211	Nonsense_Mutation	C	T	p.R251*
HNSC	TCGA-CV-7254-01	exon_skip_496349 exon_skip_496342	71865951	71866280	71866155	71866155	Nonsense_Mutation	G	T	p.E1066*
UCEC	TCGA-AX-A0J1-01	exon_skip_496315	71831255	71831379	71831254	71831254	Splice_Site	G	T	e3-1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BR-6452-01
	Cancer type: STAD
	ESID: exon_skip_496317
	Skipped exon start: 71835803
	Skipped exon end: 71836412
	Mutation start: 71836211
	Mutation end: 71836211
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R251*
exon_skip_106795_STAD_TCGA-BR-6452-01.png
exon_skip_108765_STAD_TCGA-BR-6452-01.png
exon_skip_108766_STAD_TCGA-BR-6452-01.png
exon_skip_121160_STAD_TCGA-BR-6452-01.png
exon_skip_23930_STAD_TCGA-BR-6452-01.png
exon_skip_285856_STAD_TCGA-BR-6452-01.png
exon_skip_287166_STAD_TCGA-BR-6452-01.png
exon_skip_289814_STAD_TCGA-BR-6452-01.png
exon_skip_294522_STAD_TCGA-BR-6452-01.png
exon_skip_306852_STAD_TCGA-BR-6452-01.png
exon_skip_32096_STAD_TCGA-BR-6452-01.png
exon_skip_323984_STAD_TCGA-BR-6452-01.png
exon_skip_328488_STAD_TCGA-BR-6452-01.png
exon_skip_346425_STAD_TCGA-BR-6452-01.png
exon_skip_346426_STAD_TCGA-BR-6452-01.png
exon_skip_346508_STAD_TCGA-BR-6452-01.png
exon_skip_363933_STAD_TCGA-BR-6452-01.png
exon_skip_36702_STAD_TCGA-BR-6452-01.png
exon_skip_374468_STAD_TCGA-BR-6452-01.png
exon_skip_374469_STAD_TCGA-BR-6452-01.png
exon_skip_3814_STAD_TCGA-BR-6452-01.png
exon_skip_3815_STAD_TCGA-BR-6452-01.png
exon_skip_38648_STAD_TCGA-BR-6452-01.png
exon_skip_42656_STAD_TCGA-BR-6452-01.png
exon_skip_434406_STAD_TCGA-BR-6452-01.png
exon_skip_450406_STAD_TCGA-BR-6452-01.png
exon_skip_489149_STAD_TCGA-BR-6452-01.png
exon_skip_495200_STAD_TCGA-BR-6452-01.png
exon_skip_496317_STAD_TCGA-BR-6452-01.png
exon_skip_503611_STAD_TCGA-BR-6452-01.png
exon_skip_515792_STAD_TCGA-BR-6452-01.png
exon_skip_516330_STAD_TCGA-BR-6452-01.png
exon_skip_98550_STAD_TCGA-BR-6452-01.png
	Sample: TCGA-HU-A4H8-01
	Cancer type: STAD
	ESID: exon_skip_496317
	Skipped exon start: 71835803
	Skipped exon end: 71836412
	Mutation start: 71835953
	Mutation end: 71835953
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.H195fs
	Sample: TCGA-HU-A4H8-01
	Cancer type: STAD
	ESID: exon_skip_496317
	Skipped exon start: 71835803
	Skipped exon end: 71836412
	Mutation start: 71835953
	Mutation end: 71835953
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.G165fs
exon_skip_300502_STAD_TCGA-HU-A4H8-01.png
exon_skip_343108_STAD_TCGA-HU-A4H8-01.png
exon_skip_450280_STAD_TCGA-HU-A4H8-01.png
exon_skip_452918_STAD_TCGA-HU-A4H8-01.png
exon_skip_472769_STAD_TCGA-HU-A4H8-01.png
exon_skip_472770_STAD_TCGA-HU-A4H8-01.png
exon_skip_496317_STAD_TCGA-HU-A4H8-01.png
exon_skip_66251_STAD_TCGA-HU-A4H8-01.png
exon_skip_66260_STAD_TCGA-HU-A4H8-01.png
exon_skip_66262_STAD_TCGA-HU-A4H8-01.png
exon_skip_98460_STAD_TCGA-HU-A4H8-01.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
LNCAPCLONEFGC_PROSTATE	71835803	71836412	71835953	71835953	Frame_Shift_Del	G	-	p.G166fs
LS411N_LARGE_INTESTINE	71864291	71864401	71864371	71864372	Frame_Shift_Ins	-	C	p.P988fs
SKN_ENDOMETRIUM	71831255	71831379	71831274	71831274	Missense_Mutation	G	T	p.G45V
CL11_LARGE_INTESTINE	71831255	71831379	71831330	71831330	Missense_Mutation	A	G	p.I64V
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	71835803	71836412	71835948	71835948	Missense_Mutation	G	C	p.S163T
HEC1A_ENDOMETRIUM	71835803	71836412	71836002	71836002	Missense_Mutation	A	G	p.H181R
HEC1_ENDOMETRIUM	71835803	71836412	71836002	71836002	Missense_Mutation	A	G	p.H181R
HEC1B_ENDOMETRIUM	71835803	71836412	71836002	71836002	Missense_Mutation	A	G	p.H181R
IGROV1_OVARY	71835803	71836412	71836007	71836007	Missense_Mutation	C	T	p.R183W
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	71835803	71836412	71836020	71836020	Missense_Mutation	G	A	p.R187Q
MDAMB435S_SKIN	71835803	71836412	71836031	71836031	Missense_Mutation	C	T	p.L191F
MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	71835803	71836412	71836115	71836115	Missense_Mutation	C	T	p.R219W
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	71835803	71836412	71836182	71836182	Missense_Mutation	G	A	p.R241H
TE159T_FIBROBLAST	71835803	71836412	71836223	71836223	Missense_Mutation	C	T	p.R255W
639V_URINARY_TRACT	71835803	71836412	71836224	71836224	Missense_Mutation	G	T	p.R255L
TGBC11TKB_STOMACH	71835803	71836412	71836232	71836232	Missense_Mutation	G	A	p.D258N
SKOV3_OVARY	71835803	71836412	71836233	71836233	Missense_Mutation	A	G	p.D258G
HEC108_ENDOMETRIUM	71835803	71836412	71836233	71836233	Missense_Mutation	A	G	p.D258G
HEC1_ENDOMETRIUM	71835803	71836412	71836242	71836242	Missense_Mutation	A	G	p.Y261C
HEC108_ENDOMETRIUM	71835803	71836412	71836247	71836247	Missense_Mutation	C	T	p.R263W
CW2_LARGE_INTESTINE	71835803	71836412	71836281	71836281	Missense_Mutation	G	A	p.R274H
SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	71835803	71836412	71836286	71836286	Missense_Mutation	G	A	p.D276N
SNU1_STOMACH	71835803	71836412	71836341	71836341	Missense_Mutation	G	A	p.S294N
SW480_LARGE_INTESTINE	71840938	71841091	71841068	71841068	Missense_Mutation	A	T	p.N396I
GP2D_LARGE_INTESTINE	71849355	71849463	71849404	71849404	Missense_Mutation	A	G	p.Y574C
GP5D_LARGE_INTESTINE	71849355	71849463	71849404	71849404	Missense_Mutation	A	G	p.Y574C
NCIH2804_PLEURA	71849355	71849463	71849412	71849412	Missense_Mutation	G	A	p.E577K
HCC70_BREAST	71849355	71849463	71849418	71849418	Missense_Mutation	C	T	p.P579S
MFE319_ENDOMETRIUM	71852794	71852889	71852833	71852833	Missense_Mutation	C	T	p.A740V
HCT15_LARGE_INTESTINE	71862928	71863140	71862976	71862976	Missense_Mutation	G	A	p.A906T
NCIH630_LARGE_INTESTINE	71862928	71863140	71862976	71862976	Missense_Mutation	G	A	p.A906T
KYSE150_OESOPHAGUS	71862928	71863140	71863003	71863003	Missense_Mutation	G	A	p.D915N
SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	71862928	71863140	71863013	71863013	Missense_Mutation	T	C	p.L918P
NCIH187_LUNG	71862928	71863140	71863027	71863027	Missense_Mutation	G	A	p.E923K
SW962_VULVA	71862928	71863140	71863060	71863060	Missense_Mutation	G	C	p.D934H
SKMEL1_SKIN	71862928	71863140	71863100	71863100	Missense_Mutation	C	T	p.S947L
BICR18_UPPER_AERODIGESTIVE_TRACT	71864291	71864401	71864303	71864303	Missense_Mutation	C	T	p.P965S
UW228_CENTRAL_NERVOUS_SYSTEM	71864291	71864401	71864309	71864309	Missense_Mutation	C	G	p.P967A
KYSE30_OESOPHAGUS	71864291	71864401	71864309	71864309	Missense_Mutation	C	T	p.P967S
SARC9371_BONE	71864291	71864401	71864348	71864348	Missense_Mutation	G	A	p.D980N
NCIH1341_LUNG	71864291	71864401	71864359	71864359	Missense_Mutation	G	T	p.R983S
UBLC1_URINARY_TRACT	71865951	71866280	71865958	71865958	Missense_Mutation	C	A	p.T1000N
CHP212_AUTONOMIC_GANGLIA	71865951	71866280	71866026	71866027	Missense_Mutation	GC	TT	p.A1023F
KNS42_CENTRAL_NERVOUS_SYSTEM	71865951	71866280	71866078	71866078	Missense_Mutation	C	T	p.A1040V
JHUEM1_ENDOMETRIUM	71865951	71866280	71866098	71866098	Missense_Mutation	C	T	p.R1047W
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	71865951	71866280	71866099	71866099	Missense_Mutation	G	A	p.R1047Q
WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	71865951	71866280	71866239	71866239	Missense_Mutation	T	A	p.L1094I
SCLC22H_LUNG	71862928	71863140	71863120	71863120	Nonsense_Mutation	G	T	p.E954*
SCLC21H_LUNG	71862928	71863140	71863120	71863120	Nonsense_Mutation	G	T	p.E954*
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	71862928	71863140	71863138	71863138	Nonsense_Mutation	G	T	p.E960*
QGP1_PANCREAS	71865951	71866280	71866260	71866260	Nonsense_Mutation	C	T	p.Q1101*
TMK1_STOMACH	71831255	71831379	71831255	71831255	Splice_Site	G	A	p.D39N
HT115_LARGE_INTESTINE	71840938	71841091	71841090	71841090	Splice_Site	A	C	p.E403D
BICR18_UPPER_AERODIGESTIVE_TRACT	71864291	71864401	71864292	71864292	Splice_Site	G	A	p.S961N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TJP2

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_496318	9	71840219:71840323:71840937:71841091:71842680:71842789	71840937:71841091	ENST00000348208.4,ENST00000265384.7,ENST00000539225.1,ENST00000535702.1,ENST00000453658.2,ENST00000377245.4	ESCA	rs17062695	chr9:71841018	A/G	5.01e-04
exon_skip_496326	9	71861605:71861706:71862927:71863140:71867730:71867816	71862927:71863140	ENST00000348208.4,ENST00000453658.2	ESCA	rs2282336	chr9:71862975	C/T	2.30e-04
exon_skip_496326	9	71861605:71861706:71862927:71863140:71867730:71867816	71862927:71863140	ENST00000348208.4,ENST00000453658.2	ESCA	rs2282336	chr9:71862975	C/T	5.68e-04
exon_skip_496324	9	71861605:71861706:71862927:71863140:71864290:71864401	71862927:71863140	ENST00000539225.1,ENST00000377245.4	ESCA	rs2282336	chr9:71862975	C/T	2.30e-04
exon_skip_496324	9	71861605:71861706:71862927:71863140:71864290:71864401	71862927:71863140	ENST00000539225.1,ENST00000377245.4	ESCA	rs2282336	chr9:71862975	C/T	5.68e-04
exon_skip_496325	9	71861605:71861706:71862927:71863140:71865950:71866280	71862927:71863140	ENST00000535702.1	ESCA	rs2282336	chr9:71862975	C/T	2.30e-04
exon_skip_496325	9	71861605:71861706:71862927:71863140:71865950:71866280	71862927:71863140	ENST00000535702.1	ESCA	rs2282336	chr9:71862975	C/T	5.68e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TJP2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TJP2

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RelatedDrugs for TJP2

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 TJP2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
TJP2	C0008372	Intrahepatic Cholestasis	1	CTD_human;HPO
TJP2	C1384666	hearing impairment	1	CTD_human
TJP2	C1843139	Hypercholanemia, Familial	1	CTD_human;ORPHANET;UNIPROT

	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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