ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RGL3

Gene summary

Gene information	Gene symbol	RGL3
	Gene ID	57139
	Gene name	ral guanine nucleotide dissociation stimulator like 3
	Synonyms	-
	Cytomap	19p13.2
	Type of gene	protein-coding
	Description	ral guanine nucleotide dissociation stimulator-like 3RalGEF-like protein 3, mouse homologralGDS-like 3
	Modification date	20180329
	UniProtAcc	Q3MIN7
	Context	PubMed: RGL3 [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 RGL3 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 RGL3

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 RGL3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_315154	19	11505039:11505196:11505281:11505354:11507919:11508026	11505281:11505354	ENSG00000205517.8	ENST00000568628.1
exon_skip_315168	19	11507958:11508034:11508120:11508273:11510530:11510627	11508120:11508273	ENSG00000205517.8	ENST00000563726.1,ENST00000380456.3,ENST00000566153.1,ENST00000562663.1,ENST00000393423.3
exon_skip_315175	19	11508120:11508273:11510530:11510627:11510715:11510780	11510530:11510627	ENSG00000205517.8	ENST00000563726.1,ENST00000380456.3,ENST00000566153.1,ENST00000562663.1
exon_skip_315178	19	11508120:11508273:11510530:11510645:11510715:11510780	11510530:11510645	ENSG00000205517.8	ENST00000393423.3
exon_skip_315192	19	11510530:11510627:11510715:11510784:11510877:11510973	11510715:11510784	ENSG00000205517.8	ENST00000563726.1,ENST00000380456.3,ENST00000566153.1,ENST00000562663.1
exon_skip_315198	19	11510881:11510973:11512686:11512808:11512890:11512923	11512686:11512808	ENSG00000205517.8	ENST00000563726.1,ENST00000380456.3,ENST00000562663.1,ENST00000393423.3
exon_skip_315200	19	11510881:11510973:11512686:11513217:11513325:11513382	11512686:11513217	ENSG00000205517.8	ENST00000566153.1
exon_skip_315205	19	11512753:11512808:11512890:11512923:11513130:11513217	11512890:11512923	ENSG00000205517.8	ENST00000563726.1,ENST00000380456.3,ENST00000589032.1,ENST00000562663.1,ENST00000393423.3
exon_skip_315206	19	11512890:11512923:11513130:11513217:11513325:11513382	11513130:11513217	ENSG00000205517.8	ENST00000563726.1,ENST00000380456.3,ENST00000589032.1,ENST00000562663.1,ENST00000393423.3
exon_skip_315210	19	11513325:11513382:11515822:11515907:11517094:11517256	11515822:11515907	ENSG00000205517.8	ENST00000589032.1
exon_skip_315212	19	11515887:11515907:11515998:11516102:11517094:11517256	11515998:11516102	ENSG00000205517.8	ENST00000563726.1,ENST00000380456.3,ENST00000566153.1,ENST00000562663.1,ENST00000565895.1,ENST00000453604.2,ENST00000393423.3
exon_skip_315228	19	11517499:11517540:11521928:11522120:11526612:11526824	11521928:11522120	ENSG00000205517.8	ENST00000563726.1
exon_skip_315229	19	11517499:11517540:11521928:11522120:11526622:11526824	11521928:11522120	ENSG00000205517.8	ENST00000561687.1
exon_skip_315232	19	11517499:11517540:11526612:11526824:11527287:11527336	11526612:11526824	ENSG00000205517.8	ENST00000569439.1,ENST00000380456.3,ENST00000393423.3
exon_skip_315238	19	11517499:11517540:11526622:11526824:11527287:11527336	11526622:11526824	ENSG00000205517.8	ENST00000562663.1
exon_skip_315252	19	11521928:11522120:11526612:11526824:11527287:11527336	11526612:11526824	ENSG00000205517.8	ENST00000563726.1
exon_skip_315256	19	11526714:11526790:11527287:11527341:11527509:11527733	11527287:11527341	ENSG00000205517.8	ENST00000567080.1
exon_skip_315258	19	11526682:11526824:11527287:11527336:11527509:11527733	11527287:11527336	ENSG00000205517.8	ENST00000563726.1
exon_skip_315259	19	11526682:11526824:11527287:11527341:11527509:11527733	11527287:11527341	ENSG00000205517.8	ENST00000380456.3,ENST00000567431.1,ENST00000562663.1,ENST00000393423.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RGL3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_315154	19	11505039:11505196:11505281:11505354:11507919:11508026	11505281:11505354	ENSG00000205517.8	ENST00000568628.1
exon_skip_315168	19	11507958:11508034:11508120:11508273:11510530:11510627	11508120:11508273	ENSG00000205517.8	ENST00000562663.1,ENST00000563726.1,ENST00000566153.1,ENST00000380456.3,ENST00000393423.3
exon_skip_315175	19	11508120:11508273:11510530:11510627:11510715:11510780	11510530:11510627	ENSG00000205517.8	ENST00000562663.1,ENST00000563726.1,ENST00000566153.1,ENST00000380456.3
exon_skip_315178	19	11508120:11508273:11510530:11510645:11510715:11510780	11510530:11510645	ENSG00000205517.8	ENST00000393423.3
exon_skip_315192	19	11510530:11510627:11510715:11510784:11510877:11510973	11510715:11510784	ENSG00000205517.8	ENST00000562663.1,ENST00000563726.1,ENST00000566153.1,ENST00000380456.3
exon_skip_315198	19	11510881:11510973:11512686:11512808:11512890:11512923	11512686:11512808	ENSG00000205517.8	ENST00000562663.1,ENST00000563726.1,ENST00000380456.3,ENST00000393423.3
exon_skip_315200	19	11510881:11510973:11512686:11513217:11513325:11513382	11512686:11513217	ENSG00000205517.8	ENST00000566153.1
exon_skip_315205	19	11512753:11512808:11512890:11512923:11513130:11513217	11512890:11512923	ENSG00000205517.8	ENST00000562663.1,ENST00000563726.1,ENST00000380456.3,ENST00000393423.3,ENST00000589032.1
exon_skip_315206	19	11512890:11512923:11513130:11513217:11513325:11513382	11513130:11513217	ENSG00000205517.8	ENST00000562663.1,ENST00000563726.1,ENST00000380456.3,ENST00000393423.3,ENST00000589032.1
exon_skip_315210	19	11513325:11513382:11515822:11515907:11517094:11517256	11515822:11515907	ENSG00000205517.8	ENST00000589032.1
exon_skip_315212	19	11515887:11515907:11515998:11516102:11517094:11517256	11515998:11516102	ENSG00000205517.8	ENST00000562663.1,ENST00000563726.1,ENST00000566153.1,ENST00000380456.3,ENST00000393423.3,ENST00000453604.2,ENST00000565895.1
exon_skip_315228	19	11517499:11517540:11521928:11522120:11526612:11526824	11521928:11522120	ENSG00000205517.8	ENST00000563726.1
exon_skip_315229	19	11517499:11517540:11521928:11522120:11526622:11526824	11521928:11522120	ENSG00000205517.8	ENST00000561687.1
exon_skip_315232	19	11517499:11517540:11526612:11526824:11527287:11527336	11526612:11526824	ENSG00000205517.8	ENST00000380456.3,ENST00000393423.3,ENST00000569439.1
exon_skip_315238	19	11517499:11517540:11526622:11526824:11527287:11527336	11526622:11526824	ENSG00000205517.8	ENST00000562663.1
exon_skip_315252	19	11521928:11522120:11526612:11526824:11527287:11527336	11526612:11526824	ENSG00000205517.8	ENST00000563726.1
exon_skip_315256	19	11526714:11526790:11527287:11527341:11527509:11527733	11527287:11527341	ENSG00000205517.8	ENST00000567080.1
exon_skip_315258	19	11526682:11526824:11527287:11527336:11527509:11527733	11527287:11527336	ENSG00000205517.8	ENST00000563726.1
exon_skip_315259	19	11526682:11526824:11527287:11527341:11527509:11527733	11527287:11527341	ENSG00000205517.8	ENST00000562663.1,ENST00000380456.3,ENST00000393423.3,ENST00000567431.1

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 RGL3

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
ENST00000393423	11510530	11510645	Frame-shift
ENST00000393423	11512686	11512808	Frame-shift
ENST00000393423	11515998	11516102	Frame-shift
ENST00000393423	11526612	11526824	Frame-shift
ENST00000393423	11508120	11508273	In-frame
ENST00000393423	11512890	11512923	In-frame
ENST00000393423	11513130	11513217	In-frame
ENST00000393423	11527287	11527341	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
ENST00000393423	11510530	11510645	Frame-shift
ENST00000393423	11512686	11512808	Frame-shift
ENST00000393423	11515998	11516102	Frame-shift
ENST00000393423	11526612	11526824	Frame-shift
ENST00000393423	11508120	11508273	In-frame
ENST00000393423	11512890	11512923	In-frame
ENST00000393423	11513130	11513217	In-frame
ENST00000393423	11527287	11527341	In-frame

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Infer the effects of exon skipping event on protein functional features for RGL3

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
ENST00000393423	2295	710	11527287	11527341	422	475	124	141
ENST00000393423	2295	710	11513130	11513217	1293	1379	414	443
ENST00000393423	2295	710	11512890	11512923	1380	1412	443	454
ENST00000393423	2295	710	11508120	11508273	1815	1967	588	639

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
ENST00000393423	2295	710	11527287	11527341	422	475	124	141
ENST00000393423	2295	710	11513130	11513217	1293	1379	414	443
ENST00000393423	2295	710	11512890	11512923	1380	1412	443	454
ENST00000393423	2295	710	11508120	11508273	1815	1967	588	639

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
Q3MIN7	124	141	1	710	Chain	ID=PRO_0000306799;Note=Ral guanine nucleotide dissociation stimulator-like 3
Q3MIN7	124	141	65	200	Domain	Note=N-terminal Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00135
Q3MIN7	414	443	1	710	Chain	ID=PRO_0000306799;Note=Ral guanine nucleotide dissociation stimulator-like 3
Q3MIN7	414	443	247	505	Domain	Note=Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00168
Q3MIN7	443	454	1	710	Chain	ID=PRO_0000306799;Note=Ral guanine nucleotide dissociation stimulator-like 3
Q3MIN7	443	454	247	505	Domain	Note=Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00168
Q3MIN7	588	639	1	710	Chain	ID=PRO_0000306799;Note=Ral guanine nucleotide dissociation stimulator-like 3
Q3MIN7	588	639	537	607	Compositional bias	Note=Pro-rich
Q3MIN7	588	639	613	700	Domain	Note=Ras-associating;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00166
Q3MIN7	588	639	591	591	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q3MIN7	588	639	601	601	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q3MIN7	588	639	615	615	Natural variant	ID=VAR_035300;Note=R->C;Dbxref=dbSNP:rs2291516
Q3MIN7	588	639	612	707	Region	Note=Interaction with HRAS%2C MRAS and RIT1;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q3MIN7	124	141	1	710	Chain	ID=PRO_0000306799;Note=Ral guanine nucleotide dissociation stimulator-like 3
Q3MIN7	124	141	65	200	Domain	Note=N-terminal Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00135
Q3MIN7	414	443	1	710	Chain	ID=PRO_0000306799;Note=Ral guanine nucleotide dissociation stimulator-like 3
Q3MIN7	414	443	247	505	Domain	Note=Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00168
Q3MIN7	443	454	1	710	Chain	ID=PRO_0000306799;Note=Ral guanine nucleotide dissociation stimulator-like 3
Q3MIN7	443	454	247	505	Domain	Note=Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00168
Q3MIN7	588	639	1	710	Chain	ID=PRO_0000306799;Note=Ral guanine nucleotide dissociation stimulator-like 3
Q3MIN7	588	639	537	607	Compositional bias	Note=Pro-rich
Q3MIN7	588	639	613	700	Domain	Note=Ras-associating;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00166
Q3MIN7	588	639	591	591	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q3MIN7	588	639	601	601	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
Q3MIN7	588	639	615	615	Natural variant	ID=VAR_035300;Note=R->C;Dbxref=dbSNP:rs2291516
Q3MIN7	588	639	612	707	Region	Note=Interaction with HRAS%2C MRAS and RIT1;Ontology_term=ECO:0000250;evidence=ECO:0000250

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SNVs in the skipped exons for RGL3

- 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.

RGL3_OV_exon_skip_315238_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-A1EG-01	exon_skip_315168	11508121	11508273	11508267	11508267	Frame_Shift_Del	G	-	p.L585fs
LIHC	TCGA-DD-A3A0-01	exon_skip_315175	11510531	11510627	11510548	11510548	Frame_Shift_Del	G	-	p.Q577fs
LIHC	TCGA-DD-A3A0-01	exon_skip_315178	11510531	11510645	11510548	11510548	Frame_Shift_Del	G	-	p.Q577fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_315175	11510531	11510627	11510548	11510548	Frame_Shift_Del	G	-	p.Q577fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_315178	11510531	11510645	11510548	11510548	Frame_Shift_Del	G	-	p.Q577fs
LIHC	TCGA-DD-A3A0-01	exon_skip_315198	11512687	11512808	11512734	11512734	Frame_Shift_Del	G	-	p.P479fs
LIHC	TCGA-DD-A3A0-01	exon_skip_315200	11512687	11513217	11512734	11512734	Frame_Shift_Del	G	-	p.P479fs
COAD	TCGA-A6-6781-01	exon_skip_315200	11512687	11513217	11512920	11512920	Frame_Shift_Del	C	-	p.D445fs
COAD	TCGA-A6-6781-01	exon_skip_315205	11512891	11512923	11512920	11512920	Frame_Shift_Del	C	-	p.D445fs
LIHC	TCGA-DD-A3A0-01	exon_skip_315210	11515823	11515907	11515827	11515827	Frame_Shift_Del	A	-	p.F394fs
LIHC	TCGA-DD-A39Y-01	exon_skip_315232 exon_skip_315238 exon_skip_315252	11526613	11526824	11526663	11526663	Frame_Shift_Del	A	-	p.L196fs
LIHC	TCGA-DD-A39Y-01	exon_skip_315232 exon_skip_315238 exon_skip_315252	11526623	11526824	11526663	11526663	Frame_Shift_Del	A	-	p.L196fs
LIHC	TCGA-DD-A3A0-01	exon_skip_315232 exon_skip_315238 exon_skip_315252	11526613	11526824	11526663	11526663	Frame_Shift_Del	A	-	p.L196fs
LIHC	TCGA-DD-A3A0-01	exon_skip_315232 exon_skip_315238 exon_skip_315252	11526623	11526824	11526663	11526663	Frame_Shift_Del	A	-	p.L196fs
BLCA	TCGA-HQ-A2OE-01	exon_skip_315232 exon_skip_315238 exon_skip_315252	11526613	11526824	11526625	11526625	Nonsense_Mutation	G	A	p.Q209*
BLCA	TCGA-HQ-A2OE-01	exon_skip_315232 exon_skip_315238 exon_skip_315252	11526623	11526824	11526625	11526625	Nonsense_Mutation	G	A	p.Q209*
BRCA	TCGA-A2-A0CX-01	exon_skip_315232 exon_skip_315238 exon_skip_315252	11526613	11526824	11526649	11526649	Nonsense_Mutation	G	A	p.R201*
BRCA	TCGA-A2-A0CX-01	exon_skip_315232 exon_skip_315238 exon_skip_315252	11526623	11526824	11526649	11526649	Nonsense_Mutation	G	A	p.R201*
OV	TCGA-13-0887-01	exon_skip_315232 exon_skip_315238 exon_skip_315252	11526613	11526824	11526798	11526798	Nonsense_Mutation	C	T	p.W151*
OV	TCGA-13-0887-01	exon_skip_315232 exon_skip_315238 exon_skip_315252	11526623	11526824	11526798	11526798	Nonsense_Mutation	C	T	p.W151*
UCEC	TCGA-D1-A176-01	exon_skip_315212	11515999	11516102	11515998	11515998	Splice_Site	C	A	e8+1
UCEC	TCGA-D1-A176-01	exon_skip_315212	11515999	11516102	11515998	11515998	Splice_Site	C	A	p.R367_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-13-0887-01
	Cancer type: OV
	ESID: exon_skip_315252
	Skipped exon start: 11526613
	Skipped exon end: 11526824
	Mutation start: 11526798
	Mutation end: 11526798
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W151*
	Sample: TCGA-13-0887-01
	Cancer type: OV
	ESID: exon_skip_315252
	Skipped exon start: 11526623
	Skipped exon end: 11526824
	Mutation start: 11526798
	Mutation end: 11526798
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W151*
exon_skip_315232_OV_TCGA-13-0887-01.png
exon_skip_315238_OV_TCGA-13-0887-01.png
	Sample: TCGA-13-0887-01
	Cancer type: OV
	ESID: exon_skip_315252
	Skipped exon start: 11526613
	Skipped exon end: 11526824
	Mutation start: 11526798
	Mutation end: 11526798
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W151*
	Sample: TCGA-13-0887-01
	Cancer type: OV
	ESID: exon_skip_315252
	Skipped exon start: 11526623
	Skipped exon end: 11526824
	Mutation start: 11526798
	Mutation end: 11526798
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W151*
exon_skip_315232_OV_TCGA-13-0887-01.png
exon_skip_315238_OV_TCGA-13-0887-01.png
	Sample: TCGA-D1-A176-01
	Cancer type: UCEC
	ESID: exon_skip_315212
	Skipped exon start: 11515999
	Skipped exon end: 11516102
	Mutation start: 11515998
	Mutation end: 11515998
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: A
	AAchange: p.R367_splice
	Sample: TCGA-D1-A176-01
	Cancer type: UCEC
	ESID: exon_skip_315212
	Skipped exon start: 11515999
	Skipped exon end: 11516102
	Mutation start: 11515998
	Mutation end: 11515998
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: A
	AAchange: e8+1
exon_skip_11926_UCEC_TCGA-D1-A176-01.png
exon_skip_11933_UCEC_TCGA-D1-A176-01.png
exon_skip_11939_UCEC_TCGA-D1-A176-01.png
exon_skip_29512_UCEC_TCGA-D1-A176-01.png
exon_skip_315212_UCEC_TCGA-D1-A176-01.png
exon_skip_335800_UCEC_TCGA-D1-A176-01.png
exon_skip_446979_UCEC_TCGA-D1-A176-01.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
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11526613	11526824	11526761	11526762	Frame_Shift_Ins	-	G	p.P163fs
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11526623	11526824	11526761	11526762	Frame_Shift_Ins	-	G	p.P163fs
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11508121	11508273	11508242	11508242	Missense_Mutation	C	T	p.R593Q
JHH1_LIVER	11510531	11510645	11510569	11510569	Missense_Mutation	G	A	p.P570S
JHH1_LIVER	11510531	11510627	11510569	11510569	Missense_Mutation	G	A	p.P570S
JHH1_LIVER	11510531	11510645	11510571	11510571	Missense_Mutation	C	A	p.S569I
JHH1_LIVER	11510531	11510627	11510571	11510571	Missense_Mutation	C	A	p.S569I
SKGT2_STOMACH	11510531	11510645	11510620	11510620	Missense_Mutation	G	C	p.P553A
SKGT2_STOMACH	11510531	11510627	11510620	11510620	Missense_Mutation	G	C	p.P553A
HMCB_SKIN	11512687	11513217	11512724	11512724	Missense_Mutation	C	A	p.A483S
HMCB_SKIN	11512687	11512808	11512724	11512724	Missense_Mutation	C	A	p.A483S
MET2B	11512687	11513217	11512739	11512739	Missense_Mutation	G	A	p.P478S
MET2B	11512687	11512808	11512739	11512739	Missense_Mutation	G	A	p.P478S
HCC1833_LUNG	11512687	11513217	11512754	11512754	Missense_Mutation	T	C	p.T473A
HCC1833_LUNG	11512687	11512808	11512754	11512754	Missense_Mutation	T	C	p.T473A
NB7_AUTONOMIC_GANGLIA	11512687	11513217	11512768	11512768	Missense_Mutation	C	T	p.R468H
NB7_AUTONOMIC_GANGLIA	11512687	11512808	11512768	11512768	Missense_Mutation	C	T	p.R468H
BICR56_UPPER_AERODIGESTIVE_TRACT	11515823	11515907	11515835	11515835	Missense_Mutation	C	G	p.E391D
KP1N_PANCREAS	11515823	11515907	11515882	11515882	Missense_Mutation	G	A	p.L376F
KP1NL_PANCREAS	11515823	11515907	11515882	11515882	Missense_Mutation	G	A	p.L376F
RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11515999	11516102	11516092	11516092	Missense_Mutation	T	G	p.E336A
ES6_BONE	11526613	11526824	11526688	11526688	Missense_Mutation	C	T	p.A188T
ES6_BONE	11526623	11526824	11526688	11526688	Missense_Mutation	C	T	p.A188T
KYSE70_OESOPHAGUS	11515999	11516102	11516014	11516014	Nonsense_Mutation	C	T	p.W362*
SNU1040_LARGE_INTESTINE	11526613	11526824	11526643	11526643	Nonsense_Mutation	G	A	p.Q203*
SNU1040_LARGE_INTESTINE	11526623	11526824	11526643	11526643	Nonsense_Mutation	G	A	p.Q203*
SKN3_UPPER_AERODIGESTIVE_TRACT	11526613	11526824	11526652	11526652	Nonsense_Mutation	C	A	p.E200*
SKN3_UPPER_AERODIGESTIVE_TRACT	11526623	11526824	11526652	11526652	Nonsense_Mutation	C	A	p.E200*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RGL3

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 RGL3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RGL3

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RelatedDrugs for RGL3

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 RGL3

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	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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Gene summary for RGL3

Exon skipping events across known transcript of Ensembl for RGL3 from UCSC genome browser

Gene isoform structures and expression levels for RGL3

Exon skipping events with PSIs in TCGA for RGL3

Exon skipping events with PSIs in GTEx for RGL3

Open reading frame (ORF) annotation in the exon skipping event for RGL3

Infer the effects of exon skipping event on protein functional features for RGL3

SNVs in the skipped exons for RGL3

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RGL3

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RGL3

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RGL3

RelatedDrugs for RGL3

RelatedDiseases for RGL3