ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for GON4L

Gene summary

Gene information	Gene symbol	GON4L
	Gene ID	54856
	Gene name	gon-4 like
	Synonyms	GON-4\|GON4\|YARP
	Cytomap	1q22
	Type of gene	protein-coding
	Description	GON-4-like protein2610100B20RikYY1AP related proteinYY1AP-related protein1gon-4 homolog
	Modification date	20180523
	UniProtAcc	Q3T8J9
	Context	PubMed: GON4L [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 GON4L 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 GON4L

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 GON4L

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_32634	1	155722229:155722378:155722994:155723205:155724165:155724279	155722994:155723205	ENSG00000116580.14	ENST00000437809.1,ENST00000271883.5
exon_skip_32641	1	155722994:155723205:155724165:155724279:155726748:155726868	155724165:155724279	ENSG00000116580.14	ENST00000368331.1,ENST00000437809.1,ENST00000271883.5
exon_skip_32642	1	155724165:155724279:155726748:155726868:155726970:155727114	155726748:155726868	ENSG00000116580.14	ENST00000460075.1,ENST00000368331.1,ENST00000437809.1,ENST00000271883.5
exon_skip_32643	1	155727681:155727825:155730234:155730432:155731980:155732165	155730234:155730432	ENSG00000116580.14	ENST00000368331.1,ENST00000437809.1,ENST00000271883.5
exon_skip_32646	1	155730234:155730432:155731980:155732165:155733102:155733355	155731980:155732165	ENSG00000116580.14	ENST00000368331.1,ENST00000437809.1,ENST00000271883.5
exon_skip_32652	1	155733102:155733355:155734790:155736500:155737215:155737332	155734790:155736500	ENSG00000116580.14	ENST00000368331.1,ENST00000437809.1,ENST00000271883.5
exon_skip_32655	1	155736326:155736500:155737215:155737332:155740857:155740992	155737215:155737332	ENSG00000116580.14	ENST00000471341.1,ENST00000368331.1,ENST00000437809.1,ENST00000361040.5,ENST00000497369.1,ENST00000271883.5,ENST00000490801.1
exon_skip_32657	1	155737215:155737332:155740857:155741008:155742856:155743001	155740857:155741008	ENSG00000116580.14	ENST00000471341.1,ENST00000368331.1,ENST00000437809.1,ENST00000361040.5,ENST00000497369.1,ENST00000271883.5,ENST00000490801.1
exon_skip_32659	1	155740857:155741008:155742856:155743001:155744753:155744964	155742856:155743001	ENSG00000116580.14	ENST00000490801.1
exon_skip_32661	1	155744835:155744964:155746185:155746272:155747412:155747611	155746185:155746272	ENSG00000116580.14	ENST00000471341.1,ENST00000368331.1,ENST00000437809.1,ENST00000361040.5,ENST00000271883.5
exon_skip_32662	1	155746185:155746272:155747412:155747611:155753776:155753880	155747412:155747611	ENSG00000116580.14	ENST00000471341.1,ENST00000368331.1,ENST00000437809.1,ENST00000466224.1,ENST00000361040.5,ENST00000271883.5
exon_skip_32666	1	155747412:155747611:155753776:155753880:155755124:155755165	155753776:155753880	ENSG00000116580.14	ENST00000471341.1,ENST00000368331.1,ENST00000437809.1,ENST00000482386.1,ENST00000361040.5,ENST00000271883.5
exon_skip_32667	1	155753776:155753880:155755124:155755165:155764840:155764942	155755124:155755165	ENSG00000116580.14	ENST00000471341.1,ENST00000368331.1,ENST00000437809.1,ENST00000482386.1,ENST00000361040.5,ENST00000271883.5
exon_skip_32670	1	155774739:155774932:155783424:155783595:155784120:155784240	155783424:155783595	ENSG00000116580.14	ENST00000471341.1,ENST00000368331.1,ENST00000467009.1,ENST00000437809.1,ENST00000361040.5,ENST00000271883.5
exon_skip_32673	1	155785595:155785691:155786002:155786053:155790396:155790447	155786002:155786053	ENSG00000116580.14	ENST00000368331.1,ENST00000467009.1,ENST00000437809.1,ENST00000361040.5,ENST00000271883.5
exon_skip_32675	1	155786002:155786053:155790396:155790447:155791264:155791311	155790396:155790447	ENSG00000116580.14	ENST00000471341.1,ENST00000368331.1,ENST00000467009.1,ENST00000437809.1,ENST00000361040.5,ENST00000271883.5
exon_skip_32676	1	155792237:155792267:155796627:155796819:155823066:155823196	155796627:155796819	ENSG00000116580.14	ENST00000471341.1,ENST00000368331.1,ENST00000437809.1,ENST00000361040.5,ENST00000271883.5
exon_skip_32679	1	155796660:155796819:155801325:155801411:155823066:155823196	155801325:155801411	ENSG00000116580.14	ENST00000488251.1
exon_skip_32682	1	155796660:155796819:155802622:155802741:155823066:155823196	155802622:155802741	ENSG00000116580.14	ENST00000468867.1
exon_skip_32684	1	155796660:155796819:155823066:155823597:155826937:155827008	155823066:155823597	ENSG00000116580.14	ENST00000471341.1
exon_skip_32686	1	155796660:155796819:155823066:155823597:155826949:155826972	155823066:155823597	ENSG00000116580.14	ENST00000368331.1,ENST00000361040.5,ENST00000271883.5

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for GON4L

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_32634	1	155722229:155722378:155722994:155723205:155724165:155724279	155722994:155723205	ENSG00000116580.14	ENST00000437809.1,ENST00000271883.5
exon_skip_32641	1	155722994:155723205:155724165:155724279:155726748:155726868	155724165:155724279	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5
exon_skip_32642	1	155724165:155724279:155726748:155726868:155726970:155727114	155726748:155726868	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5,ENST00000460075.1
exon_skip_32643	1	155727681:155727825:155730234:155730432:155731980:155732165	155730234:155730432	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5
exon_skip_32646	1	155730234:155730432:155731980:155732165:155733102:155733355	155731980:155732165	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5
exon_skip_32652	1	155733102:155733355:155734790:155736500:155737215:155737332	155734790:155736500	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5
exon_skip_32655	1	155736326:155736500:155737215:155737332:155740857:155740992	155737215:155737332	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5,ENST00000361040.5,ENST00000471341.1,ENST00000497369.1,ENST00000490801.1
exon_skip_32657	1	155737215:155737332:155740857:155741008:155742856:155743001	155740857:155741008	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5,ENST00000361040.5,ENST00000471341.1,ENST00000497369.1,ENST00000490801.1
exon_skip_32659	1	155740857:155741008:155742856:155743001:155744753:155744964	155742856:155743001	ENSG00000116580.14	ENST00000490801.1
exon_skip_32661	1	155744835:155744964:155746185:155746272:155747412:155747611	155746185:155746272	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5,ENST00000361040.5,ENST00000471341.1
exon_skip_32662	1	155746185:155746272:155747412:155747611:155753776:155753880	155747412:155747611	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5,ENST00000361040.5,ENST00000471341.1,ENST00000466224.1
exon_skip_32666	1	155747412:155747611:155753776:155753880:155755124:155755165	155753776:155753880	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5,ENST00000361040.5,ENST00000471341.1,ENST00000482386.1
exon_skip_32667	1	155753776:155753880:155755124:155755165:155764840:155764942	155755124:155755165	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5,ENST00000361040.5,ENST00000471341.1,ENST00000482386.1
exon_skip_32670	1	155774739:155774932:155783424:155783595:155784120:155784240	155783424:155783595	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5,ENST00000361040.5,ENST00000471341.1,ENST00000467009.1
exon_skip_32673	1	155785595:155785691:155786002:155786053:155790396:155790447	155786002:155786053	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5,ENST00000361040.5,ENST00000467009.1
exon_skip_32675	1	155786002:155786053:155790396:155790447:155791264:155791311	155790396:155790447	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5,ENST00000361040.5,ENST00000471341.1,ENST00000467009.1
exon_skip_32676	1	155792237:155792267:155796627:155796819:155823066:155823196	155796627:155796819	ENSG00000116580.14	ENST00000437809.1,ENST00000368331.1,ENST00000271883.5,ENST00000361040.5,ENST00000471341.1
exon_skip_32679	1	155796660:155796819:155801325:155801411:155823066:155823196	155801325:155801411	ENSG00000116580.14	ENST00000488251.1
exon_skip_32682	1	155796660:155796819:155802622:155802741:155823066:155823196	155802622:155802741	ENSG00000116580.14	ENST00000468867.1
exon_skip_32684	1	155796660:155796819:155823066:155823597:155826937:155827008	155823066:155823597	ENSG00000116580.14	ENST00000471341.1
exon_skip_32686	1	155796660:155796819:155823066:155823597:155826949:155826972	155823066:155823597	ENSG00000116580.14	ENST00000368331.1,ENST00000271883.5,ENST00000361040.5

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 GON4L

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
ENST00000368331	155823066	155823597	3UTR-3CDS
ENST00000368331	155731980	155732165	Frame-shift
ENST00000368331	155740857	155741008	Frame-shift
ENST00000368331	155747412	155747611	Frame-shift
ENST00000368331	155753776	155753880	Frame-shift
ENST00000368331	155755124	155755165	Frame-shift
ENST00000368331	155724165	155724279	In-frame
ENST00000368331	155726748	155726868	In-frame
ENST00000368331	155730234	155730432	In-frame
ENST00000368331	155734790	155736500	In-frame
ENST00000368331	155737215	155737332	In-frame
ENST00000368331	155746185	155746272	In-frame
ENST00000368331	155783424	155783595	In-frame
ENST00000368331	155786002	155786053	In-frame
ENST00000368331	155790396	155790447	In-frame
ENST00000368331	155796627	155796819	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
ENST00000368331	155823066	155823597	3UTR-3CDS
ENST00000368331	155731980	155732165	Frame-shift
ENST00000368331	155740857	155741008	Frame-shift
ENST00000368331	155747412	155747611	Frame-shift
ENST00000368331	155753776	155753880	Frame-shift
ENST00000368331	155755124	155755165	Frame-shift
ENST00000368331	155724165	155724279	In-frame
ENST00000368331	155726748	155726868	In-frame
ENST00000368331	155730234	155730432	In-frame
ENST00000368331	155734790	155736500	In-frame
ENST00000368331	155737215	155737332	In-frame
ENST00000368331	155746185	155746272	In-frame
ENST00000368331	155783424	155783595	In-frame
ENST00000368331	155786002	155786053	In-frame
ENST00000368331	155790396	155790447	In-frame
ENST00000368331	155796627	155796819	In-frame

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Infer the effects of exon skipping event on protein functional features for GON4L

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
ENST00000368331	7657	2241	155796627	155796819	555	746	168	232
ENST00000368331	7657	2241	155790396	155790447	1013	1063	321	338
ENST00000368331	7657	2241	155786002	155786053	1064	1114	338	355
ENST00000368331	7657	2241	155783424	155783595	1331	1501	427	484
ENST00000368331	7657	2241	155746185	155746272	2141	2227	697	726
ENST00000368331	7657	2241	155737215	155737332	2696	2812	882	921
ENST00000368331	7657	2241	155734790	155736500	2813	4522	921	1491
ENST00000368331	7657	2241	155730234	155730432	4961	5158	1637	1703
ENST00000368331	7657	2241	155726748	155726868	5447	5566	1799	1839
ENST00000368331	7657	2241	155724165	155724279	5567	5680	1839	1877

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
ENST00000368331	7657	2241	155796627	155796819	555	746	168	232
ENST00000368331	7657	2241	155790396	155790447	1013	1063	321	338
ENST00000368331	7657	2241	155786002	155786053	1064	1114	338	355
ENST00000368331	7657	2241	155783424	155783595	1331	1501	427	484
ENST00000368331	7657	2241	155746185	155746272	2141	2227	697	726
ENST00000368331	7657	2241	155737215	155737332	2696	2812	882	921
ENST00000368331	7657	2241	155734790	155736500	2813	4522	921	1491
ENST00000368331	7657	2241	155730234	155730432	4961	5158	1637	1703
ENST00000368331	7657	2241	155726748	155726868	5447	5566	1799	1839
ENST00000368331	7657	2241	155724165	155724279	5567	5680	1839	1877

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 GON4L

- 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_32641	155724166	155724279	155724195	155724195	Frame_Shift_Del	T	-	p.R1869fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_32641	155724166	155724279	155724258	155724258	Frame_Shift_Del	C	-	p.A1847fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_32642	155726749	155726868	155726776	155726776	Frame_Shift_Del	T	-	p.K1830fs
ESCA	TCGA-L5-A43J-01	exon_skip_32652	155734791	155736500	155734981	155734981	Frame_Shift_Del	G	-	p.P1428fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_32652	155734791	155736500	155735602	155735602	Frame_Shift_Del	G	-	p.P1221fs
HNSC	TCGA-D6-A4Z9-01	exon_skip_32652	155734791	155736500	155735634	155735637	Frame_Shift_Del	GCCA	-	p.SG1209fs
LIHC	TCGA-DD-A3A0-01	exon_skip_32652	155734791	155736500	155735992	155735992	Frame_Shift_Del	A	-	p.L1092fs
COAD	TCGA-G4-6586-01	exon_skip_32652	155734791	155736500	155736034	155736034	Frame_Shift_Del	G	-	p.P1077fs
STAD	TCGA-B7-5816-01	exon_skip_32652	155734791	155736500	155736390	155736390	Frame_Shift_Del	T	-	p.D959fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_32659	155742857	155743001	155742941	155742941	Frame_Shift_Del	A	-	p.F804fs
COAD	TCGA-G4-6628-01	exon_skip_32662	155747413	155747611	155747486	155747487	Frame_Shift_Del	TG	-	p.673_673del
LIHC	TCGA-DD-A39Y-01	exon_skip_32670	155783425	155783595	155783531	155783531	Frame_Shift_Del	G	-	p.P452fs
LIHC	TCGA-DD-A3A0-01	exon_skip_32670	155783425	155783595	155783531	155783531	Frame_Shift_Del	G	-	p.P452fs
STAD	TCGA-CD-A4MI-01	exon_skip_32686 exon_skip_32684	155823067	155823597	155823103	155823103	Frame_Shift_Del	A	-	p.S157fs
STAD	TCGA-CD-A4MI-01	exon_skip_32686 exon_skip_32684	155823067	155823597	155823103	155823103	Frame_Shift_Del	A	-	p.S157X
ACC	TCGA-OR-A5LJ-01	exon_skip_32686 exon_skip_32684	155823067	155823597	155823172	155823172	Frame_Shift_Del	T	-	p.M134fs
COAD	TCGA-A6-6780-01	exon_skip_32686 exon_skip_32684	155823067	155823597	155823172	155823172	Frame_Shift_Del	T	-	p.M134fs
STAD	TCGA-BR-8372-01	exon_skip_32686 exon_skip_32684	155823067	155823597	155823172	155823172	Frame_Shift_Del	T	-	p.M134fs
STAD	TCGA-CD-A4MJ-01	exon_skip_32686 exon_skip_32684	155823067	155823597	155823172	155823172	Frame_Shift_Del	T	-	p.M134fs
STAD	TCGA-CG-5733-01	exon_skip_32686 exon_skip_32684	155823067	155823597	155823172	155823172	Frame_Shift_Del	T	-	p.M134fs
LIHC	TCGA-DD-A39Y-01	exon_skip_32686 exon_skip_32684	155823067	155823597	155823239	155823239	Frame_Shift_Del	A	-	p.F111fs
LIHC	TCGA-DD-A3A1-01	exon_skip_32686 exon_skip_32684	155823067	155823597	155823267	155823267	Frame_Shift_Del	C	-	p.G102fs
COAD	TCGA-D5-6928-01	exon_skip_32642	155726749	155726868	155726775	155726776	Frame_Shift_Ins	-	T	p.E1831fs
LUAD	TCGA-64-1677-01	exon_skip_32652	155734791	155736500	155734980	155734981	Frame_Shift_Ins	-	G	p.P1428fs
PRAD	TCGA-V1-A9OQ-01	exon_skip_32652	155734791	155736500	155735616	155735617	Frame_Shift_Ins	-	G	p.H1216fs
LUAD	TCGA-44-2668-01	exon_skip_32670	155783425	155783595	155783535	155783536	Frame_Shift_Ins	-	C	p.GP447fs
STAD	TCGA-BR-8078-01	exon_skip_32634	155722995	155723205	155722995	155722995	Nonsense_Mutation	C	A	p.G1948X
PCPG	TCGA-W2-A7H7-01	exon_skip_32634	155722995	155723205	155723052	155723052	Nonsense_Mutation	C	A	p.E1929*
LUSC	TCGA-22-5491-01	exon_skip_32643	155730235	155730432	155730294	155730294	Nonsense_Mutation	G	A	p.Q1684*
BLCA	TCGA-ZF-AA4X-01	exon_skip_32652	155734791	155736500	155735084	155735084	Nonsense_Mutation	G	A	p.Q1394*
STAD	TCGA-F1-6177-01	exon_skip_32652	155734791	155736500	155735156	155735156	Nonsense_Mutation	C	A	p.E1370*
STAD	TCGA-F1-6177-01	exon_skip_32652	155734791	155736500	155735156	155735156	Nonsense_Mutation	C	A	p.E1370X
CESC	TCGA-EX-A1H6-01	exon_skip_32652	155734791	155736500	155735537	155735537	Nonsense_Mutation	G	A	p.Q1243*
BLCA	TCGA-ZF-AA4X-01	exon_skip_32652	155734791	155736500	155735905	155735905	Nonsense_Mutation	G	C	p.S1120*
STAD	TCGA-CD-A4MI-01	exon_skip_32652	155734791	155736500	155736194	155736194	Nonsense_Mutation	G	A	p.R1024*
STAD	TCGA-CD-A4MI-01	exon_skip_32652	155734791	155736500	155736194	155736194	Nonsense_Mutation	G	A	p.R1024X
COAD	TCGA-AA-3510-01	exon_skip_32652	155734791	155736500	155736404	155736404	Nonsense_Mutation	G	A	p.R954X
HNSC	TCGA-BA-5555-01	exon_skip_32662	155747413	155747611	155747430	155747430	Nonsense_Mutation	G	A	p.Q692*
CESC	TCGA-C5-A1ML-01	exon_skip_32666	155753777	155753880	155753850	155753850	Nonsense_Mutation	C	A	p.E607*
SKCM	TCGA-D3-A51G-06	exon_skip_32676	155796628	155796819	155796745	155796745	Nonsense_Mutation	G	A	p.Q194*
SKCM	TCGA-D3-A51G-06	exon_skip_32676	155796628	155796819	155796745	155796745	Nonsense_Mutation	G	A	p.Q194X
BLCA	TCGA-DK-A1AC-01	exon_skip_32686 exon_skip_32684	155823067	155823597	155823271	155823271	Nonsense_Mutation	G	A	p.Q101*
THYM	TCGA-YT-A95G-01	exon_skip_32686 exon_skip_32684	155823067	155823597	155823379	155823379	Nonsense_Mutation	G	A	p.Q65X
BRCA	TCGA-AN-A0AT-01	exon_skip_32666	155753777	155753880	155753882	155753882	Splice_Site	T	G	e13-2
KIRC	TCGA-A3-3346-01	exon_skip_32666	155753777	155753880	155753882	155753882	Splice_Site	T	G	.
STAD	TCGA-D7-A6EY-01	exon_skip_32675	155790397	155790447	155790395	155790395	Splice_Site	A	C	.

- 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
SW48_LARGE_INTESTINE	155734791	155736500	155734981	155734981	Frame_Shift_Del	G	-	p.P1428fs
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155734791	155736500	155736086	155736086	Frame_Shift_Del	C	-	p.V1060fs
OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155734791	155736500	155736086	155736086	Frame_Shift_Del	C	-	p.V1060fs
SNGM_ENDOMETRIUM	155823067	155823597	155823103	155823103	Frame_Shift_Del	A	-	p.S157fs
RKO_LARGE_INTESTINE	155823067	155823597	155823103	155823103	Frame_Shift_Del	A	-	p.S157fs
SNGM_ENDOMETRIUM	155823067	155823597	155823172	155823172	Frame_Shift_Del	T	-	p.M134fs
SKUT1_SOFT_TISSUE	155823067	155823597	155823172	155823172	Frame_Shift_Del	T	-	p.M134fs
SNUC5_LARGE_INTESTINE	155823067	155823597	155823172	155823172	Frame_Shift_Del	T	-	p.M134fs
EN_ENDOMETRIUM	155790397	155790447	155790402	155790403	Frame_Shift_Ins	-	T	p.G337fs
PEDS005TPFAD_KIDNEY	155737216	155737332	155737320	155737322	In_Frame_Del	TCT	-	p.K886del
HS944T_SKIN	155722995	155723205	155723048	155723048	Missense_Mutation	G	A	p.A1930V
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155722995	155723205	155723195	155723195	Missense_Mutation	C	A	p.S1881I
22RV1_PROSTATE	155724166	155724279	155724170	155724170	Missense_Mutation	C	T	p.S1876N
DJM1_SKIN	155724166	155724279	155724180	155724180	Missense_Mutation	G	A	p.H1873Y
CPCN_LUNG	155724166	155724279	155724206	155724206	Missense_Mutation	T	A	p.K1864M
GP2D_LARGE_INTESTINE	155724166	155724279	155724257	155724257	Missense_Mutation	G	A	p.A1847V
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155724166	155724279	155724258	155724258	Missense_Mutation	C	T	p.A1847T
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM	155724166	155724279	155724269	155724269	Missense_Mutation	C	A	p.W1843L
EFM19_BREAST	155726749	155726868	155726766	155726766	Missense_Mutation	C	T	p.V1834I
G361_SKIN	155730235	155730432	155730364	155730364	Missense_Mutation	C	A	p.E1660D
HEC6_ENDOMETRIUM	155731981	155732165	155732070	155732070	Missense_Mutation	G	T	p.L1608M
SKPNDW_BONE	155731981	155732165	155732082	155732082	Missense_Mutation	C	T	p.D1604N
NY_BONE	155731981	155732165	155732083	155732083	Missense_Mutation	C	G	p.K1603N
JHUEM1_ENDOMETRIUM	155731981	155732165	155732093	155732093	Missense_Mutation	C	T	p.R1600Q
NCIH2172_LUNG	155731981	155732165	155732096	155732096	Missense_Mutation	G	A	p.A1599V
SW780_URINARY_TRACT	155731981	155732165	155732136	155732136	Missense_Mutation	G	A	p.R1586W
HEC6_ENDOMETRIUM	155731981	155732165	155732151	155732151	Missense_Mutation	C	A	p.A1581S
ESS1_ENDOMETRIUM	155734791	155736500	155734895	155734895	Missense_Mutation	G	A	p.P1457S
MCC13_SKIN	155734791	155736500	155734972	155734972	Missense_Mutation	G	A	p.P1431L
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155734791	155736500	155735029	155735029	Missense_Mutation	T	A	p.K1412M
OC316_OVARY	155734791	155736500	155735206	155735206	Missense_Mutation	G	A	p.A1353V
OC314_OVARY	155734791	155736500	155735206	155735206	Missense_Mutation	G	A	p.A1353V
SARC9371_BONE	155734791	155736500	155735524	155735524	Missense_Mutation	G	A	p.P1247L
CCK81_LARGE_INTESTINE	155734791	155736500	155735545	155735545	Missense_Mutation	T	G	p.N1240T
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155734791	155736500	155735575	155735575	Missense_Mutation	T	C	p.D1230G
CW2_LARGE_INTESTINE	155734791	155736500	155735671	155735671	Missense_Mutation	A	G	p.L1198P
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155734791	155736500	155735722	155735722	Missense_Mutation	G	T	p.T1181N
HEC265_ENDOMETRIUM	155734791	155736500	155735740	155735740	Missense_Mutation	G	A	p.P1175L
COLO678_LARGE_INTESTINE	155734791	155736500	155735773	155735773	Missense_Mutation	A	G	p.I1164T
KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155734791	155736500	155735832	155735832	Missense_Mutation	G	C	p.I1144M
EN_ENDOMETRIUM	155734791	155736500	155735832	155735832	Missense_Mutation	G	C	p.I1144M
C2BBE1_LARGE_INTESTINE	155734791	155736500	155735986	155735986	Missense_Mutation	G	C	p.S1093C
CACO2_LARGE_INTESTINE	155734791	155736500	155735986	155735986	Missense_Mutation	G	C	p.S1093C
RKO_LARGE_INTESTINE	155734791	155736500	155736017	155736017	Missense_Mutation	A	G	p.F1083L
SW1573_LUNG	155734791	155736500	155736079	155736079	Missense_Mutation	C	T	p.G1062E
FTC238_THYROID	155734791	155736500	155736131	155736131	Missense_Mutation	G	C	p.P1045A
NCIH1373_LUNG	155734791	155736500	155736221	155736221	Missense_Mutation	T	C	p.S1015G
KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155734791	155736500	155736235	155736235	Missense_Mutation	G	A	p.P1010L
HSC3_UPPER_AERODIGESTIVE_TRACT	155734791	155736500	155736235	155736235	Missense_Mutation	G	A	p.P1010L
BHY_UPPER_AERODIGESTIVE_TRACT	155734791	155736500	155736235	155736235	Missense_Mutation	G	A	p.P1010L
OVISE_OVARY	155734791	155736500	155736235	155736235	Missense_Mutation	G	A	p.P1010L
SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155734791	155736500	155736235	155736235	Missense_Mutation	G	A	p.P1010L
SNU1040_LARGE_INTESTINE	155734791	155736500	155736266	155736266	Missense_Mutation	C	T	p.V1000I
NCIH1155_LUNG	155734791	155736500	155736295	155736295	Missense_Mutation	C	T	p.R990K
MCC13_SKIN	155734791	155736500	155736343	155736343	Missense_Mutation	G	A	p.P974L
NCIH2110_LUNG	155734791	155736500	155736419	155736419	Missense_Mutation	C	G	p.E949Q
NCIH2023_LUNG	155737216	155737332	155737239	155737239	Missense_Mutation	G	A	p.H914Y
HEC6_ENDOMETRIUM	155740858	155741008	155740886	155740886	Missense_Mutation	A	G	p.M873T
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155740858	155741008	155740904	155740904	Missense_Mutation	C	A	p.R867I
SISO_CERVIX	155740858	155741008	155740923	155740923	Missense_Mutation	C	T	p.A861T
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155740858	155741008	155740923	155740923	Missense_Mutation	C	T	p.A861T
HCC1359_LUNG	155742857	155743001	155742879	155742879	Missense_Mutation	C	A	p.V825F
NCIH596_LUNG	155742857	155743001	155742902	155742902	Missense_Mutation	G	A	p.A817V
RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155742857	155743001	155742902	155742902	Missense_Mutation	G	A	p.A817V
MCC13_SKIN	155742857	155743001	155742980	155742980	Missense_Mutation	G	A	p.P791L
WM983B_SKIN	155753777	155753880	155753855	155753855	Missense_Mutation	T	C	p.N605S
SHP77_LUNG	155753777	155753880	155753855	155753855	Missense_Mutation	T	A	p.N605I
BB49EBV_MATCHED_NORMAL_TISSUE	155753777	155753880	155753872	155753872	Missense_Mutation	A	T	p.D599E
BB49HNC_UPPER_AERODIGESTIVE_TRACT	155753777	155753880	155753872	155753872	Missense_Mutation	A	T	p.D599E
JHUEM7_ENDOMETRIUM	155783425	155783595	155783438	155783438	Missense_Mutation	A	G	p.M480T
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155783425	155783595	155783526	155783526	Missense_Mutation	G	T	p.P451T
CAL27_UPPER_AERODIGESTIVE_TRACT	155783425	155783595	155783553	155783553	Missense_Mutation	C	G	p.E442Q
CAL148_BREAST	155783425	155783595	155783569	155783569	Missense_Mutation	G	C	p.I436M
OVK18_OVARY	155823067	155823597	155823132	155823132	Missense_Mutation	C	T	p.C147Y
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	155823067	155823597	155823279	155823279	Missense_Mutation	G	A	p.A98V
HEC59_ENDOMETRIUM	155823067	155823597	155823283	155823283	Missense_Mutation	C	T	p.V97M
HEC1_ENDOMETRIUM	155823067	155823597	155823292	155823292	Missense_Mutation	C	A	p.G94C
LS180_LARGE_INTESTINE	155823067	155823597	155823403	155823403	Missense_Mutation	C	T	p.A57T
KM12_LARGE_INTESTINE	155823067	155823597	155823435	155823435	Missense_Mutation	G	A	p.S46L
SKMEL24_SKIN	155823067	155823597	155823535	155823535	Missense_Mutation	C	T	p.E13K
HSC1_SKIN	155734791	155736500	155735900	155735901	Nonsense_Mutation	TC	AA	p.1121_1122KR>N*
2313287_STOMACH	155734791	155736500	155735933	155735933	Nonsense_Mutation	G	A	p.R1111*
MEWO_SKIN	155734791	155736500	155736227	155736227	Nonsense_Mutation	G	A	p.Q1013*
HEC251_ENDOMETRIUM	155755125	155755165	155755130	155755130	Nonsense_Mutation	C	A	p.E595*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GON4L

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 GON4L

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GON4L

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RelatedDrugs for GON4L

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 GON4L

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
GON4L	C3714756	Intellectual Disability	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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