ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for LGR5

Gene summary

Gene information	Gene symbol	LGR5
	Gene ID	8549
	Gene name	leucine rich repeat containing G protein-coupled receptor 5
	Synonyms	FEX\|GPR49\|GPR67\|GRP49\|HG38
	Cytomap	12q21.1
	Type of gene	protein-coding
	Description	leucine-rich repeat-containing G-protein coupled receptor 5G-protein coupled receptor 49G-protein coupled receptor 67G-protein coupled receptor HG38orphan G protein-coupled receptor HG38
	Modification date	20180527
	UniProtAcc	O75473
	Context	PubMed: LGR5 [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
LGR5	GO:0090263	positive regulation of canonical Wnt signaling pathway	21693646\|22815884

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Exon skipping events across known transcript of Ensembl for LGR5 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 LGR5

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 LGR5

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_85494	12	71833814:71834072:71898393:71898465:71918185:71918257	71898393:71898465	ENSG00000139292.8	ENST00000540815.2,ENST00000536515.1,ENST00000550851.1
exon_skip_85495	12	71898393:71898465:71918185:71918257:71928894:71928966	71918185:71918257	ENSG00000139292.8	ENST00000540815.2,ENST00000536515.1,ENST00000266674.5,ENST00000550851.1
exon_skip_85497	12	71928894:71928966:71946852:71947068:71950398:71950470	71946852:71947068	ENSG00000139292.8	ENST00000540815.2,ENST00000266674.5,ENST00000550851.1
exon_skip_85500	12	71946852:71947068:71950398:71950470:71953365:71953434	71950398:71950470	ENSG00000139292.8	ENST00000540815.2,ENST00000266674.5,ENST00000550851.1
exon_skip_85503	12	71950398:71950470:71953365:71953434:71955560:71955632	71953365:71953434	ENSG00000139292.8	ENST00000536515.1,ENST00000266674.5,ENST00000550851.1
exon_skip_85504	12	71950398:71950470:71953365:71953434:71960183:71960255	71953365:71953434	ENSG00000139292.8	ENST00000540815.2
exon_skip_85506	12	71953365:71953434:71955560:71955632:71960183:71960255	71955560:71955632	ENSG00000139292.8	ENST00000536515.1,ENST00000266674.5,ENST00000550851.1
exon_skip_85510	12	71965293:71965359:71966629:71966701:71971704:71971776	71966629:71966701	ENSG00000139292.8	ENST00000540815.2,ENST00000536515.1,ENST00000547310.1,ENST00000266674.5,ENST00000550851.1
exon_skip_85512	12	71974057:71974203:71976235:71976319:71977426:71977692	71976235:71976319	ENSG00000139292.8	ENST00000540815.2,ENST00000536515.1,ENST00000266674.5,ENST00000550851.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for LGR5

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_85494	12	71833814:71834072:71898393:71898465:71918185:71918257	71898393:71898465	ENSG00000139292.8	ENST00000550851.1,ENST00000536515.1,ENST00000540815.2
exon_skip_85495	12	71898393:71898465:71918185:71918257:71928894:71928966	71918185:71918257	ENSG00000139292.8	ENST00000266674.5,ENST00000550851.1,ENST00000536515.1,ENST00000540815.2
exon_skip_85497	12	71928894:71928966:71946852:71947068:71950398:71950470	71946852:71947068	ENSG00000139292.8	ENST00000266674.5,ENST00000550851.1,ENST00000540815.2
exon_skip_85500	12	71946852:71947068:71950398:71950470:71953365:71953434	71950398:71950470	ENSG00000139292.8	ENST00000266674.5,ENST00000550851.1,ENST00000540815.2
exon_skip_85503	12	71950398:71950470:71953365:71953434:71955560:71955632	71953365:71953434	ENSG00000139292.8	ENST00000266674.5,ENST00000550851.1,ENST00000536515.1
exon_skip_85504	12	71950398:71950470:71953365:71953434:71960183:71960255	71953365:71953434	ENSG00000139292.8	ENST00000540815.2
exon_skip_85506	12	71953365:71953434:71955560:71955632:71960183:71960255	71955560:71955632	ENSG00000139292.8	ENST00000266674.5,ENST00000550851.1,ENST00000536515.1
exon_skip_85510	12	71965293:71965359:71966629:71966701:71971704:71971776	71966629:71966701	ENSG00000139292.8	ENST00000266674.5,ENST00000550851.1,ENST00000536515.1,ENST00000540815.2,ENST00000547310.1
exon_skip_85512	12	71974057:71974203:71976235:71976319:71977426:71977692	71976235:71976319	ENSG00000139292.8	ENST00000266674.5,ENST00000550851.1,ENST00000536515.1,ENST00000540815.2

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for LGR5

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
ENST00000266674	71918185	71918257	In-frame
ENST00000266674	71946852	71947068	In-frame
ENST00000266674	71950398	71950470	In-frame
ENST00000266674	71953365	71953434	In-frame
ENST00000266674	71955560	71955632	In-frame
ENST00000266674	71966629	71966701	In-frame
ENST00000266674	71976235	71976319	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
ENST00000266674	71918185	71918257	In-frame
ENST00000266674	71946852	71947068	In-frame
ENST00000266674	71950398	71950470	In-frame
ENST00000266674	71953365	71953434	In-frame
ENST00000266674	71955560	71955632	In-frame
ENST00000266674	71966629	71966701	In-frame
ENST00000266674	71976235	71976319	In-frame

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Infer the effects of exon skipping event on protein functional features for LGR5

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
ENST00000266674	4628	907	71918185	71918257	596	667	95	118
ENST00000266674	4628	907	71946852	71947068	740	955	143	214
ENST00000266674	4628	907	71950398	71950470	956	1027	215	238
ENST00000266674	4628	907	71953365	71953434	1028	1096	239	261
ENST00000266674	4628	907	71955560	71955632	1097	1168	262	285
ENST00000266674	4628	907	71966629	71966701	1448	1519	379	402
ENST00000266674	4628	907	71976235	71976319	1864	1947	517	545

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
ENST00000266674	4628	907	71918185	71918257	596	667	95	118
ENST00000266674	4628	907	71946852	71947068	740	955	143	214
ENST00000266674	4628	907	71950398	71950470	956	1027	215	238
ENST00000266674	4628	907	71953365	71953434	1028	1096	239	261
ENST00000266674	4628	907	71955560	71955632	1097	1168	262	285
ENST00000266674	4628	907	71966629	71966701	1448	1519	379	402
ENST00000266674	4628	907	71976235	71976319	1864	1947	517	545

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
O75473	95	118	94	96	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KNG
O75473	95	118	118	120	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KNG
O75473	95	118	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	95	118	91	112	Repeat	Note=LRR 2
O75473	95	118	115	136	Repeat	Note=LRR 3
O75473	95	118	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	95	118	107	112	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KNG
O75473	143	214	143	214	Alternative sequence	ID=VSP_054782;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
O75473	143	214	141	144	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	143	214	166	168	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	143	214	190	192	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	143	214	214	216	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	143	214	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	143	214	208	208	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23756651;Dbxref=PMID:23756651
O75473	143	214	158	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	143	214	146	146	Mutagenesis	Note=Abolishes activation of Wnt signaling. D->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23809763;Dbxref=PMID:23809763
O75473	143	214	170	170	Mutagenesis	Note=Abolishes activation of Wnt signaling. D->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23809763;Dbxref=PMID:23809763
O75473	143	214	190	190	Mutagenesis	Note=Abolishes activation of Wnt signaling. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23809763;Dbxref=PMID:23809763
O75473	143	214	139	160	Repeat	Note=LRR 4
O75473	143	214	163	184	Repeat	Note=LRR 5
O75473	143	214	187	208	Repeat	Note=LRR 6
O75473	143	214	211	232	Repeat	Note=LRR 7
O75473	143	214	212	212	Sequence conflict	Note=L->W;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75473	143	214	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	143	214	179	184	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	143	214	205	208	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	215	238	214	216	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	215	238	238	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	215	238	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	215	238	211	232	Repeat	Note=LRR 7
O75473	215	238	235	256	Repeat	Note=LRR 8
O75473	215	238	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	215	238	227	232	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	239	261	238	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	239	261	261	263	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	239	261	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	239	261	252	254	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	239	261	235	256	Repeat	Note=LRR 8
O75473	239	261	258	279	Repeat	Note=LRR 9
O75473	239	261	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	262	285	263	286	Alternative sequence	ID=VSP_037746;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O75473	262	285	261	263	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	262	285	285	287	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	262	285	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	262	285	258	279	Repeat	Note=LRR 9
O75473	262	285	282	303	Repeat	Note=LRR 10
O75473	262	285	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	262	285	274	279	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	379	402	380	385	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	379	402	401	408	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	379	402	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	379	402	383	383	Natural variant	ID=VAR_049411;Note=H->R;Dbxref=dbSNP:rs12303775
O75473	379	402	375	396	Repeat	Note=LRR 14
O75473	379	402	399	420	Repeat	Note=LRR 15
O75473	379	402	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	379	402	393	396	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KNG
O75473	517	545	535	537	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	517	545	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	517	545	479	541	Disulfide bond	.
O75473	517	545	538	543	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	517	545	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	517	545	522	524	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR

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
O75473	95	118	94	96	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KNG
O75473	95	118	118	120	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KNG
O75473	95	118	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	95	118	91	112	Repeat	Note=LRR 2
O75473	95	118	115	136	Repeat	Note=LRR 3
O75473	95	118	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	95	118	107	112	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KNG
O75473	143	214	143	214	Alternative sequence	ID=VSP_054782;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
O75473	143	214	141	144	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	143	214	166	168	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	143	214	190	192	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	143	214	214	216	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	143	214	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	143	214	208	208	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23756651;Dbxref=PMID:23756651
O75473	143	214	158	160	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	143	214	146	146	Mutagenesis	Note=Abolishes activation of Wnt signaling. D->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23809763;Dbxref=PMID:23809763
O75473	143	214	170	170	Mutagenesis	Note=Abolishes activation of Wnt signaling. D->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23809763;Dbxref=PMID:23809763
O75473	143	214	190	190	Mutagenesis	Note=Abolishes activation of Wnt signaling. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23809763;Dbxref=PMID:23809763
O75473	143	214	139	160	Repeat	Note=LRR 4
O75473	143	214	163	184	Repeat	Note=LRR 5
O75473	143	214	187	208	Repeat	Note=LRR 6
O75473	143	214	211	232	Repeat	Note=LRR 7
O75473	143	214	212	212	Sequence conflict	Note=L->W;Ontology_term=ECO:0000305;evidence=ECO:0000305
O75473	143	214	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	143	214	179	184	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	143	214	205	208	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	215	238	214	216	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	215	238	238	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	215	238	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	215	238	211	232	Repeat	Note=LRR 7
O75473	215	238	235	256	Repeat	Note=LRR 8
O75473	215	238	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	215	238	227	232	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	239	261	238	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	239	261	261	263	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	239	261	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	239	261	252	254	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	239	261	235	256	Repeat	Note=LRR 8
O75473	239	261	258	279	Repeat	Note=LRR 9
O75473	239	261	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	262	285	263	286	Alternative sequence	ID=VSP_037746;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O75473	262	285	261	263	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	262	285	285	287	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	262	285	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	262	285	258	279	Repeat	Note=LRR 9
O75473	262	285	282	303	Repeat	Note=LRR 10
O75473	262	285	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	262	285	274	279	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	379	402	380	385	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	379	402	401	408	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	379	402	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	379	402	383	383	Natural variant	ID=VAR_049411;Note=H->R;Dbxref=dbSNP:rs12303775
O75473	379	402	375	396	Repeat	Note=LRR 14
O75473	379	402	399	420	Repeat	Note=LRR 15
O75473	379	402	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	379	402	393	396	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4KNG
O75473	517	545	535	537	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	517	545	22	907	Chain	ID=PRO_0000012794;Note=Leucine-rich repeat-containing G-protein coupled receptor 5
O75473	517	545	479	541	Disulfide bond	.
O75473	517	545	538	543	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR
O75473	517	545	22	561	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
O75473	517	545	522	524	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4UFR

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SNVs in the skipped exons for LGR5

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A1EG-01	exon_skip_85495	71918186	71918257	71918195	71918195	Frame_Shift_Del	G	-	p.A98fs
LUAD	TCGA-17-Z023-01	exon_skip_85495	71918186	71918257	71918213	71918226	Frame_Shift_Del	CATTCCCAAGGGAG	-	p.YIPKGA104fs
UCS	TCGA-N6-A4V9-01	exon_skip_85495	71918186	71918257	71918250	71918250	Frame_Shift_Del	A	-	p.K117fs
LIHC	TCGA-DD-A1EG-01	exon_skip_85497	71946853	71947068	71946912	71946912	Frame_Shift_Del	C	-	p.S163fs
LIHC	TCGA-DD-A1EG-01	exon_skip_85497	71946853	71947068	71947005	71947005	Frame_Shift_Del	C	-	p.A194fs
SARC	TCGA-3B-A9HL-01	exon_skip_85506	71955561	71955632	71955560	71955560	Splice_Site	G	C	e8-1

- 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
LNCAPCLONEFGC_PROSTATE	71950399	71950470	71950441	71950442	Frame_Shift_Ins	-	T	p.F230fs
SNUC1_LARGE_INTESTINE	71898394	71898465	71898417	71898417	Missense_Mutation	G	T	p.S79I
SNUC2A_LARGE_INTESTINE	71898394	71898465	71898450	71898450	Missense_Mutation	G	A	p.R90H
SNU407_LARGE_INTESTINE	71898394	71898465	71898450	71898450	Missense_Mutation	G	A	p.R90H
HN_UPPER_AERODIGESTIVE_TRACT	71898394	71898465	71898450	71898450	Missense_Mutation	G	A	p.R90H
SNUC2B_LARGE_INTESTINE	71898394	71898465	71898450	71898450	Missense_Mutation	G	A	p.R90H
TE8_OESOPHAGUS	71898394	71898465	71898450	71898450	Missense_Mutation	G	A	p.R90H
SNU520_STOMACH	71898394	71898465	71898463	71898463	Missense_Mutation	G	T	p.E94D
TT_THYROID	71946853	71947068	71946855	71946855	Missense_Mutation	G	C	p.R144P
RH4_SOFT_TISSUE	71946853	71947068	71946884	71946884	Missense_Mutation	C	G	p.P154A
MKN74_STOMACH	71946853	71947068	71946906	71946906	Missense_Mutation	T	C	p.L161P
RCCFG2_KIDNEY	71946853	71947068	71946915	71946915	Missense_Mutation	T	C	p.L164P
HLFA_FIBROBLAST	71946853	71947068	71946981	71946981	Missense_Mutation	C	T	p.S186L
MERO14_LUNG	71946853	71947068	71947004	71947004	Missense_Mutation	G	T	p.A194S
LNCAPCLONEFGC_PROSTATE	71946853	71947068	71947031	71947031	Missense_Mutation	G	T	p.D203Y
SQ1_LUNG	71953366	71953434	71953377	71953377	Missense_Mutation	A	G	p.Y243C
CW2_LARGE_INTESTINE	71953366	71953434	71953418	71953418	Missense_Mutation	T	A	p.S257T
HT115_LARGE_INTESTINE	71955561	71955632	71955587	71955587	Missense_Mutation	C	T	p.S271L
ML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	71955561	71955632	71955599	71955599	Missense_Mutation	A	G	p.K275R
TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	71966630	71966701	71966655	71966655	Missense_Mutation	G	A	p.E388K

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LGR5

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 LGR5

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LGR5

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RelatedDrugs for LGR5

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 LGR5

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
LGR5	C0009375	Colonic Neoplasms	1	CTD_human
LGR5	C0009404	Colorectal Neoplasms	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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