ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for GLG1

Gene summary

Gene information	Gene symbol	GLG1
	Gene ID	2734
	Gene name	golgi glycoprotein 1
	Synonyms	CFR-1\|ESL-1\|MG-160\|MG160
	Cytomap	16q23.1
	Type of gene	protein-coding
	Description	Golgi apparatus protein 1E-selectin ligand 1cysteine-rich fibroblast growth factor receptorgolgi sialoglycoprotein MG-160
	Modification date	20180523
	UniProtAcc	Q92896
	Context	PubMed: GLG1 [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 GLG1 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 GLG1

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 GLG1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_146035	16	74485924:74486029:74487068:74487232:74490546:74490653	74487068:74487232	ENSG00000090863.7	ENST00000205061.5,ENST00000447066.2
exon_skip_146039	16	74487086:74487232:74490546:74490653:74491771:74491892	74490546:74490653	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000567951.1,ENST00000562090.1,ENST00000447066.2,ENST00000561942.1
exon_skip_146043	16	74490546:74490653:74491771:74491892:74493579:74493687	74491771:74491892	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000567951.1,ENST00000562090.1,ENST00000447066.2
exon_skip_146046	16	74491771:74491892:74493579:74493687:74495991:74496093	74493579:74493687	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000567951.1,ENST00000562090.1,ENST00000447066.2
exon_skip_146048	16	74497253:74497377:74499573:74499711:74501653:74501746	74499573:74499711	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000567951.1,ENST00000562090.1,ENST00000561481.1,ENST00000447066.2
exon_skip_146049	16	74501656:74501746:74502843:74502961:74503882:74503971	74502843:74502961	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000567951.1,ENST00000562090.1,ENST00000447066.2,ENST00000563432.1
exon_skip_146050	16	74505070:74505184:74506246:74506309:74508443:74508530	74506246:74506309	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000567951.1,ENST00000447066.2
exon_skip_146054	16	74506246:74506309:74506423:74506532:74508443:74508530	74506423:74506532	ENSG00000090863.7	ENST00000562090.1
exon_skip_146055	16	74506246:74506309:74508443:74508530:74511293:74511431	74508443:74508530	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000567951.1,ENST00000447066.2
exon_skip_146056	16	74511293:74511431:74514138:74514292:74516920:74517022	74514138:74514292	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000562090.1,ENST00000447066.2
exon_skip_146057	16	74514138:74514292:74516920:74517022:74519693:74519815	74516920:74517022	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000562090.1,ENST00000447066.2
exon_skip_146058	16	74524898:74525113:74526854:74527038:74528657:74528729	74526854:74527038	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000562090.1,ENST00000447066.2
exon_skip_146059	16	74526854:74527038:74528657:74528729:74530338:74530542	74528657:74528729	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000562090.1,ENST00000447066.2
exon_skip_146060	16	74528657:74528729:74530338:74530542:74537428:74537644	74530338:74530542	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000562090.1,ENST00000447066.2
exon_skip_146061	16	74530526:74530542:74537428:74537644:74542736:74542823	74537428:74537644	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000567951.1,ENST00000562090.1,ENST00000565474.1,ENST00000447066.2
exon_skip_146065	16	74542736:74542823:74566018:74566051:74640554:74640725	74566018:74566051	ENSG00000090863.7	ENST00000422840.2,ENST00000567951.1,ENST00000562090.1,ENST00000565260.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for GLG1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_146035	16	74485924:74486029:74487068:74487232:74490546:74490653	74487068:74487232	ENSG00000090863.7	ENST00000205061.5,ENST00000447066.2
exon_skip_146039	16	74487086:74487232:74490546:74490653:74491771:74491892	74490546:74490653	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000567951.1,ENST00000562090.1,ENST00000561942.1
exon_skip_146043	16	74490546:74490653:74491771:74491892:74493579:74493687	74491771:74491892	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000567951.1,ENST00000562090.1
exon_skip_146046	16	74491771:74491892:74493579:74493687:74495991:74496093	74493579:74493687	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000567951.1,ENST00000562090.1
exon_skip_146048	16	74497253:74497377:74499573:74499711:74501653:74501746	74499573:74499711	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000567951.1,ENST00000562090.1,ENST00000561481.1
exon_skip_146049	16	74501656:74501746:74502843:74502961:74503882:74503971	74502843:74502961	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000567951.1,ENST00000562090.1,ENST00000563432.1
exon_skip_146050	16	74505070:74505184:74506246:74506309:74508443:74508530	74506246:74506309	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000567951.1
exon_skip_146054	16	74506246:74506309:74506423:74506532:74508443:74508530	74506423:74506532	ENSG00000090863.7	ENST00000562090.1
exon_skip_146055	16	74506246:74506309:74508443:74508530:74511293:74511431	74508443:74508530	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000567951.1
exon_skip_146056	16	74511293:74511431:74514138:74514292:74516920:74517022	74514138:74514292	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000562090.1
exon_skip_146057	16	74514138:74514292:74516920:74517022:74519693:74519815	74516920:74517022	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000562090.1
exon_skip_146058	16	74524898:74525113:74526854:74527038:74528657:74528729	74526854:74527038	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000562090.1
exon_skip_146059	16	74526854:74527038:74528657:74528729:74530338:74530542	74528657:74528729	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000562090.1
exon_skip_146060	16	74528657:74528729:74530338:74530542:74537428:74537644	74530338:74530542	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000562090.1
exon_skip_146061	16	74530526:74530542:74537428:74537644:74542736:74542823	74537428:74537644	ENSG00000090863.7	ENST00000205061.5,ENST00000422840.2,ENST00000447066.2,ENST00000567951.1,ENST00000562090.1,ENST00000565474.1
exon_skip_146065	16	74542736:74542823:74566018:74566051:74640554:74640725	74566018:74566051	ENSG00000090863.7	ENST00000422840.2,ENST00000567951.1,ENST00000562090.1,ENST00000565260.1

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 GLG1

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
ENST00000422840	74490546	74490653	Frame-shift
ENST00000422840	74491771	74491892	Frame-shift
ENST00000422840	74502843	74502961	Frame-shift
ENST00000422840	74514138	74514292	Frame-shift
ENST00000422840	74526854	74527038	Frame-shift
ENST00000422840	74493579	74493687	In-frame
ENST00000422840	74499573	74499711	In-frame
ENST00000422840	74506246	74506309	In-frame
ENST00000422840	74508443	74508530	In-frame
ENST00000422840	74516920	74517022	In-frame
ENST00000422840	74528657	74528729	In-frame
ENST00000422840	74530338	74530542	In-frame
ENST00000422840	74537428	74537644	In-frame
ENST00000422840	74566018	74566051	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
ENST00000422840	74490546	74490653	Frame-shift
ENST00000422840	74491771	74491892	Frame-shift
ENST00000422840	74502843	74502961	Frame-shift
ENST00000422840	74514138	74514292	Frame-shift
ENST00000422840	74526854	74527038	Frame-shift
ENST00000422840	74493579	74493687	In-frame
ENST00000422840	74499573	74499711	In-frame
ENST00000422840	74506246	74506309	In-frame
ENST00000422840	74508443	74508530	In-frame
ENST00000422840	74516920	74517022	In-frame
ENST00000422840	74528657	74528729	In-frame
ENST00000422840	74530338	74530542	In-frame
ENST00000422840	74537428	74537644	In-frame
ENST00000422840	74566018	74566051	In-frame

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Infer the effects of exon skipping event on protein functional features for GLG1

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
ENST00000422840	4765	1179	74566018	74566051	439	471	146	157
ENST00000422840	4765	1179	74537428	74537644	559	774	186	258
ENST00000422840	4765	1179	74530338	74530542	775	978	258	326
ENST00000422840	4765	1179	74528657	74528729	979	1050	326	350
ENST00000422840	4765	1179	74516920	74517022	1572	1673	524	557
ENST00000422840	4765	1179	74508443	74508530	1966	2052	655	684
ENST00000422840	4765	1179	74506246	74506309	2053	2115	684	705
ENST00000422840	4765	1179	74499573	74499711	2530	2667	843	889
ENST00000422840	4765	1179	74493579	74493687	3037	3144	1012	1048

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
ENST00000422840	4765	1179	74566018	74566051	439	471	146	157
ENST00000422840	4765	1179	74537428	74537644	559	774	186	258
ENST00000422840	4765	1179	74530338	74530542	775	978	258	326
ENST00000422840	4765	1179	74528657	74528729	979	1050	326	350
ENST00000422840	4765	1179	74516920	74517022	1572	1673	524	557
ENST00000422840	4765	1179	74508443	74508530	1966	2052	655	684
ENST00000422840	4765	1179	74506246	74506309	2053	2115	684	705
ENST00000422840	4765	1179	74499573	74499711	2530	2667	843	889
ENST00000422840	4765	1179	74493579	74493687	3037	3144	1012	1048

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
Q92896	146	157	147	157	Alternative sequence	ID=VSP_043472;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92896	146	157	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	146	157	116	149	Repeat	Note=Cys-rich GLG1 1
Q92896	146	157	150	212	Repeat	Note=Cys-rich GLG1 2
Q92896	146	157	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	186	258	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	186	258	210	210	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	186	258	150	212	Repeat	Note=Cys-rich GLG1 2
Q92896	186	258	215	278	Repeat	Note=Cys-rich GLG1 3
Q92896	186	258	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	258	326	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	258	326	215	278	Repeat	Note=Cys-rich GLG1 3
Q92896	258	326	286	346	Repeat	Note=Cys-rich GLG1 4
Q92896	258	326	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	326	350	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	326	350	286	346	Repeat	Note=Cys-rich GLG1 4
Q92896	326	350	347	413	Repeat	Note=Cys-rich GLG1 5
Q92896	326	350	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	524	557	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	524	557	475	537	Repeat	Note=Cys-rich GLG1 7
Q92896	524	557	538	604	Repeat	Note=Cys-rich GLG1 8
Q92896	524	557	526	526	Sequence conflict	Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q92896	524	557	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	655	684	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	655	684	677	677	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12754519;Dbxref=PMID:12754519
Q92896	655	684	609	668	Repeat	Note=Cys-rich GLG1 9
Q92896	655	684	670	728	Repeat	Note=Cys-rich GLG1 10
Q92896	655	684	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	684	705	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	684	705	670	728	Repeat	Note=Cys-rich GLG1 10
Q92896	684	705	702	702	Sequence conflict	Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q92896	684	705	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	843	889	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	843	889	796	856	Repeat	Note=Cys-rich GLG1 12
Q92896	843	889	858	911	Repeat	Note=Cys-rich GLG1 13
Q92896	843	889	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	1012	1048	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	1012	1048	980	1035	Repeat	Note=Cys-rich GLG1 15
Q92896	1012	1048	1041	1101	Repeat	Note=Cys-rich GLG1 16
Q92896	1012	1048	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q92896	146	157	147	157	Alternative sequence	ID=VSP_043472;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92896	146	157	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	146	157	116	149	Repeat	Note=Cys-rich GLG1 1
Q92896	146	157	150	212	Repeat	Note=Cys-rich GLG1 2
Q92896	146	157	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	186	258	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	186	258	210	210	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	186	258	150	212	Repeat	Note=Cys-rich GLG1 2
Q92896	186	258	215	278	Repeat	Note=Cys-rich GLG1 3
Q92896	186	258	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	258	326	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	258	326	215	278	Repeat	Note=Cys-rich GLG1 3
Q92896	258	326	286	346	Repeat	Note=Cys-rich GLG1 4
Q92896	258	326	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	326	350	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	326	350	286	346	Repeat	Note=Cys-rich GLG1 4
Q92896	326	350	347	413	Repeat	Note=Cys-rich GLG1 5
Q92896	326	350	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	524	557	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	524	557	475	537	Repeat	Note=Cys-rich GLG1 7
Q92896	524	557	538	604	Repeat	Note=Cys-rich GLG1 8
Q92896	524	557	526	526	Sequence conflict	Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q92896	524	557	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	655	684	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	655	684	677	677	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12754519;Dbxref=PMID:12754519
Q92896	655	684	609	668	Repeat	Note=Cys-rich GLG1 9
Q92896	655	684	670	728	Repeat	Note=Cys-rich GLG1 10
Q92896	655	684	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	684	705	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	684	705	670	728	Repeat	Note=Cys-rich GLG1 10
Q92896	684	705	702	702	Sequence conflict	Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q92896	684	705	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	843	889	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	843	889	796	856	Repeat	Note=Cys-rich GLG1 12
Q92896	843	889	858	911	Repeat	Note=Cys-rich GLG1 13
Q92896	843	889	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92896	1012	1048	30	1179	Chain	ID=PRO_0000011120;Note=Golgi apparatus protein 1
Q92896	1012	1048	980	1035	Repeat	Note=Cys-rich GLG1 15
Q92896	1012	1048	1041	1101	Repeat	Note=Cys-rich GLG1 16
Q92896	1012	1048	30	1145	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for GLG1

- 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
LGG	TCGA-VM-A8CA-01	exon_skip_146035	74487069	74487232	74487225	74487225	Frame_Shift_Del	G	-	p.P1127fs
LIHC	TCGA-DD-A3A0-01	exon_skip_146046	74493580	74493687	74493597	74493597	Frame_Shift_Del	T	-	p.T1043fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_146046	74493580	74493687	74493597	74493597	Frame_Shift_Del	T	-	p.T1043fs
LIHC	TCGA-DD-A39Y-01	exon_skip_146048	74499574	74499711	74499649	74499649	Frame_Shift_Del	A	-	p.F864fs
KIRC	TCGA-B8-5550-01	exon_skip_146050	74506247	74506309	74506300	74506300	Frame_Shift_Del	T	-	p.I688fs
LIHC	TCGA-DD-A39Y-01	exon_skip_146058	74526855	74527038	74526957	74526957	Frame_Shift_Del	T	-	p.S378fs
LIHC	TCGA-DD-A1EG-01	exon_skip_146058	74526855	74527038	74527010	74527010	Frame_Shift_Del	T	-	p.K360fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_146058	74526855	74527038	74527010	74527010	Frame_Shift_Del	T	-	p.K360fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_146060	74530339	74530542	74530468	74530468	Frame_Shift_Del	G	-	p.P283fs
LIHC	TCGA-DD-A1EG-01	exon_skip_146060	74530339	74530542	74530476	74530476	Frame_Shift_Del	T	-	p.R281fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_146061	74537429	74537644	74537612	74537612	Frame_Shift_Del	T	-	p.K197fs
LUAD	TCGA-55-8299-01	exon_skip_146061	74537429	74537644	74537634	74537635	Frame_Shift_Ins	-	AT	p.C190fs
KIRP	TCGA-P4-AAVM-01	exon_skip_146043	74491772	74491892	74491772	74491772	Nonsense_Mutation	G	A	p.Q1089X
COAD	TCGA-A6-2683-01	exon_skip_146048	74499574	74499711	74499607	74499607	Nonsense_Mutation	G	C	p.Y867X
BLCA	TCGA-ZF-A9RC-01	exon_skip_146050	74506247	74506309	74506261	74506261	Nonsense_Mutation	G	A	p.Q701*
LUAD	TCGA-17-Z042-01	exon_skip_146060	74530339	74530542	74530506	74530506	Nonsense_Mutation	C	A	p.E271*
HNSC	TCGA-CN-6020-01	exon_skip_146061	74537429	74537644	74537551	74537551	Nonsense_Mutation	G	A	p.Q218*
BLCA	TCGA-GC-A6I3-01	exon_skip_146061	74537429	74537644	74537566	74537566	Nonsense_Mutation	C	A	p.E213*
COAD	TCGA-AU-6004-01	exon_skip_146056	74514139	74514292	74514293	74514293	Splice_Site	C	A	.
CESC	TCGA-C5-A1MP-01	exon_skip_146059	74528658	74528729	74528657	74528657	Splice_Site	C	A	e6+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
SNGM_ENDOMETRIUM	74526855	74527038	74526957	74526957	Frame_Shift_Del	T	-	p.S378fs
CHAGOK1_LUNG	74487069	74487232	74487150	74487150	Missense_Mutation	C	A	p.S1152I
HCT116_LARGE_INTESTINE	74487069	74487232	74487201	74487201	Missense_Mutation	G	A	p.A1135V
NCIH2228_LUNG	74490547	74490653	74490600	74490600	Missense_Mutation	C	T	p.E1107K
SNU175_LARGE_INTESTINE	74490547	74490653	74490621	74490621	Missense_Mutation	T	C	p.K1100E
OCUBM_BREAST	74491772	74491892	74491784	74491784	Missense_Mutation	C	T	p.G1085S
LNCAPCLONEFGC_PROSTATE	74491772	74491892	74491828	74491828	Missense_Mutation	G	T	p.A1070D
SNU1040_LARGE_INTESTINE	74491772	74491892	74491843	74491843	Missense_Mutation	G	A	p.P1065L
KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74491772	74491892	74491861	74491861	Missense_Mutation	G	T	p.A1059E
NCIH835_LUNG	74491772	74491892	74491862	74491862	Missense_Mutation	C	G	p.A1059P
HCT15_LARGE_INTESTINE	74493580	74493687	74493660	74493660	Missense_Mutation	C	T	p.A1022T
HRT18_LARGE_INTESTINE	74493580	74493687	74493660	74493660	Missense_Mutation	C	T	p.A1022T
NCIH1755_LUNG	74499574	74499711	74499583	74499583	Missense_Mutation	C	A	p.Q886H
LNCAPCLONEFGC_PROSTATE	74499574	74499711	74499610	74499610	Missense_Mutation	G	T	p.D877E
LN18_CENTRAL_NERVOUS_SYSTEM	74499574	74499711	74499699	74499699	Missense_Mutation	G	C	p.L848V
MM426_SKIN	74502844	74502961	74502896	74502896	Missense_Mutation	T	G	p.H795P
ESO51_OESOPHAGUS	74502844	74502961	74502900	74502900	Missense_Mutation	C	T	p.E794K
SNU1040_LARGE_INTESTINE	74502844	74502961	74502927	74502927	Missense_Mutation	G	A	p.R785C
BICR6_UPPER_AERODIGESTIVE_TRACT	74502844	74502961	74502948	74502948	Missense_Mutation	T	A	p.I778F
NCIH2009_LUNG	74508444	74508530	74508452	74508452	Missense_Mutation	C	G	p.E682Q
HT55_LARGE_INTESTINE	74508444	74508530	74508487	74508487	Missense_Mutation	T	A	p.E670V
LN18_CENTRAL_NERVOUS_SYSTEM	74514139	74514292	74514249	74514249	Missense_Mutation	G	C	p.R573G
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74514139	74514292	74514273	74514273	Missense_Mutation	G	A	p.R565C
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74516921	74517022	74517011	74517011	Missense_Mutation	C	T	p.C528Y
LOVO_LARGE_INTESTINE	74526855	74527038	74526908	74526908	Missense_Mutation	C	T	p.R394H
HEC1A_ENDOMETRIUM	74526855	74527038	74526909	74526909	Missense_Mutation	G	A	p.R394C
HEC1_ENDOMETRIUM	74526855	74527038	74526909	74526909	Missense_Mutation	G	A	p.R394C
HEC1B_ENDOMETRIUM	74526855	74527038	74526909	74526909	Missense_Mutation	G	A	p.R394C
L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74526855	74527038	74526929	74526929	Missense_Mutation	A	G	p.V387A
HEC108_ENDOMETRIUM	74526855	74527038	74526963	74526963	Missense_Mutation	A	G	p.C376R
HCC2450_LUNG	74528658	74528729	74528667	74528667	Missense_Mutation	C	G	p.M347I
NCIH441_LUNG	74528658	74528729	74528669	74528669	Missense_Mutation	T	C	p.M347V
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74530339	74530542	74530440	74530440	Missense_Mutation	T	C	p.K293E
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74530339	74530542	74530523	74530523	Missense_Mutation	T	C	p.E265G
SNU1040_LARGE_INTESTINE	74537429	74537644	74537607	74537607	Missense_Mutation	T	C	p.Y199C
VMCUB1_URINARY_TRACT	74566019	74566051	74566032	74566032	Missense_Mutation	G	A	p.S153L
LU135_LUNG	74566019	74566051	74566042	74566042	Missense_Mutation	C	T	p.E150K
NCIH1573_LUNG	74493580	74493687	74493630	74493630	Nonsense_Mutation	C	A	p.E1032*
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	74499574	74499711	74499700	74499700	Nonsense_Mutation	A	T	p.C847*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GLG1

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_146061	16	74530526:74530542:74537428:74537644:74542736:74542823	74537428:74537644	ENST00000205061.5,ENST00000422840.2,ENST00000567951.1,ENST00000562090.1,ENST00000565474.1,ENST00000447066.2	ESCA	rs4887772	chr16:74537591	C/T	9.01e-05
exon_skip_146039	16	74487086:74487232:74490546:74490653:74491771:74491892	74490546:74490653	ENST00000205061.5,ENST00000422840.2,ENST00000567951.1,ENST00000562090.1,ENST00000447066.2,ENST00000561942.1	PRAD	rs9945	chr16:74490556	G/A	2.66e-03
exon_skip_146054	16	74506246:74506309:74506423:74506532:74508443:74508530	74506423:74506532	ENST00000562090.1	PRAD	rs8059315	chr16:74506447	C/G	1.56e-03
exon_skip_146048	16	74497253:74497377:74499573:74499711:74501653:74501746	74499573:74499711	ENST00000205061.5,ENST00000422840.2,ENST00000567951.1,ENST00000562090.1,ENST00000561481.1,ENST00000447066.2	THCA	rs2303275	chr16:74499589	G/A	1.76e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GLG1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GLG1

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RelatedDrugs for GLG1

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 GLG1

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 GLG1

Exon skipping events across known transcript of Ensembl for GLG1 from UCSC genome browser

Gene isoform structures and expression levels for GLG1

Exon skipping events with PSIs in TCGA for GLG1

Exon skipping events with PSIs in GTEx for GLG1

Open reading frame (ORF) annotation in the exon skipping event for GLG1

Infer the effects of exon skipping event on protein functional features for GLG1

SNVs in the skipped exons for GLG1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GLG1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GLG1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GLG1

RelatedDrugs for GLG1

RelatedDiseases for GLG1