ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for GLUL

Gene summary

Gene information	Gene symbol	GLUL
	Gene ID	2752
	Gene name	glutamate-ammonia ligase
	Synonyms	GLNS\|GS\|PIG43\|PIG59
	Cytomap	1q25.3
	Type of gene	protein-coding
	Description	glutamine synthetasecell proliferation-inducing protein 59glutamate decarboxylaseglutamine synthaseproliferation-inducing protein 43
	Modification date	20180522
	UniProtAcc	P15104
	Context	PubMed: GLUL [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
GLUL	GO:0008283	cell proliferation	18662667

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Exon skipping events across known transcript of Ensembl for GLUL 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 GLUL

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 GLUL

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_34940	1	182353549:182353858:182354491:182354691:182354894:182354977	182354491:182354691	ENSG00000135821.12	ENST00000311223.5,ENST00000339526.4,ENST00000461447.1,ENST00000463851.2,ENST00000417584.2,ENST00000331872.6
exon_skip_34943	1	182354537:182354691:182354894:182355022:182355390:182355537	182354894:182355022	ENSG00000135821.12	ENST00000311223.5,ENST00000339526.4,ENST00000417584.2,ENST00000331872.6,ENST00000484996.1
exon_skip_34946	1	182354894:182355022:182355390:182355537:182356265:182356427	182355390:182355537	ENSG00000135821.12	ENST00000311223.5,ENST00000339526.4,ENST00000417584.2,ENST00000331872.6,ENST00000484996.1
exon_skip_34947	1	182354894:182355022:182355496:182355537:182356265:182356427	182355496:182355537	ENSG00000135821.12	ENST00000489818.1
exon_skip_34951	1	182355496:182355537:182356265:182356427:182357706:182357885	182356265:182356427	ENSG00000135821.12	ENST00000311223.5,ENST00000339526.4,ENST00000475808.1,ENST00000489818.1,ENST00000480604.1,ENST00000417584.2,ENST00000331872.6,ENST00000484996.1
exon_skip_34979	1	182357838:182357885:182359631:182359987:182360813:182360894	182359631:182359987	ENSG00000135821.12	ENST00000311223.5,ENST00000480604.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for GLUL

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_34940	1	182353549:182353858:182354491:182354691:182354894:182354977	182354491:182354691	ENSG00000135821.12	ENST00000331872.6,ENST00000311223.5,ENST00000417584.2,ENST00000339526.4,ENST00000463851.2,ENST00000461447.1
exon_skip_34943	1	182354537:182354691:182354894:182355022:182355390:182355537	182354894:182355022	ENSG00000135821.12	ENST00000331872.6,ENST00000311223.5,ENST00000417584.2,ENST00000339526.4,ENST00000484996.1
exon_skip_34946	1	182354894:182355022:182355390:182355537:182356265:182356427	182355390:182355537	ENSG00000135821.12	ENST00000331872.6,ENST00000311223.5,ENST00000417584.2,ENST00000339526.4,ENST00000484996.1
exon_skip_34947	1	182354894:182355022:182355496:182355537:182356265:182356427	182355496:182355537	ENSG00000135821.12	ENST00000489818.1
exon_skip_34951	1	182355496:182355537:182356265:182356427:182357706:182357885	182356265:182356427	ENSG00000135821.12	ENST00000331872.6,ENST00000311223.5,ENST00000417584.2,ENST00000339526.4,ENST00000484996.1,ENST00000489818.1,ENST00000475808.1,ENST00000480604.1
exon_skip_34979	1	182357838:182357885:182359631:182359987:182360813:182360894	182359631:182359987	ENSG00000135821.12	ENST00000311223.5,ENST00000480604.1

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 GLUL

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
ENST00000311223	182359631	182359987	3UTR-3UTR
ENST00000311223	182354491	182354691	Frame-shift
ENST00000331872	182354491	182354691	Frame-shift
ENST00000339526	182354491	182354691	Frame-shift
ENST00000417584	182354491	182354691	Frame-shift
ENST00000311223	182354894	182355022	Frame-shift
ENST00000331872	182354894	182355022	Frame-shift
ENST00000339526	182354894	182355022	Frame-shift
ENST00000417584	182354894	182355022	Frame-shift
ENST00000311223	182355390	182355537	In-frame
ENST00000331872	182355390	182355537	In-frame
ENST00000339526	182355390	182355537	In-frame
ENST00000417584	182355390	182355537	In-frame
ENST00000311223	182356265	182356427	In-frame
ENST00000331872	182356265	182356427	In-frame
ENST00000339526	182356265	182356427	In-frame
ENST00000417584	182356265	182356427	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
ENST00000311223	182359631	182359987	3UTR-3UTR
ENST00000311223	182354491	182354691	Frame-shift
ENST00000331872	182354491	182354691	Frame-shift
ENST00000339526	182354491	182354691	Frame-shift
ENST00000417584	182354491	182354691	Frame-shift
ENST00000311223	182354894	182355022	Frame-shift
ENST00000331872	182354894	182355022	Frame-shift
ENST00000339526	182354894	182355022	Frame-shift
ENST00000417584	182354894	182355022	Frame-shift
ENST00000311223	182355390	182355537	In-frame
ENST00000331872	182355390	182355537	In-frame
ENST00000339526	182355390	182355537	In-frame
ENST00000417584	182355390	182355537	In-frame
ENST00000311223	182356265	182356427	In-frame
ENST00000331872	182356265	182356427	In-frame
ENST00000339526	182356265	182356427	In-frame
ENST00000417584	182356265	182356427	In-frame

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

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
ENST00000311223	4736	373	182356265	182356427	1064	1225	55	109
ENST00000331872	4381	373	182356265	182356427	708	869	55	109
ENST00000339526	3959	373	182356265	182356427	1476	1637	55	109
ENST00000417584	4082	373	182356265	182356427	410	571	55	109
ENST00000311223	4736	373	182355390	182355537	1226	1372	109	158
ENST00000331872	4381	373	182355390	182355537	870	1016	109	158
ENST00000339526	3959	373	182355390	182355537	1638	1784	109	158
ENST00000417584	4082	373	182355390	182355537	572	718	109	158

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
ENST00000311223	4736	373	182356265	182356427	1064	1225	55	109
ENST00000331872	4381	373	182356265	182356427	708	869	55	109
ENST00000339526	3959	373	182356265	182356427	1476	1637	55	109
ENST00000417584	4082	373	182356265	182356427	410	571	55	109
ENST00000311223	4736	373	182355390	182355537	1226	1372	109	158
ENST00000331872	4381	373	182355390	182355537	870	1016	109	158
ENST00000339526	3959	373	182355390	182355537	1638	1784	109	158
ENST00000417584	4082	373	182355390	182355537	572	718	109	158

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
P15104	55	109	60	63	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	60	63	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	60	63	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	60	63	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	69	71	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	69	71	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	69	71	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	69	71	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	76	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	76	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	76	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	76	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	95	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	95	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	95	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	95	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	55	109	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	55	109	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	55	109	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	55	109	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	72	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	72	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	72	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	72	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	104	104	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P15105
P15104	55	109	104	104	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P15105
P15104	55	109	104	104	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P15105
P15104	55	109	104	104	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P15105
P15104	55	109	64	68	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	64	68	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	64	68	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	64	68	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	88	90	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	88	90	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	88	90	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	88	90	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	130	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	130	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	130	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	130	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	144	146	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	109	158	144	146	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	109	158	144	146	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	109	158	144	146	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	109	158	158	160	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	158	160	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	158	160	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	158	160	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	109	158	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	109	158	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	109	158	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	109	158	114	123	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	114	123	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	114	123	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	114	123	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	124	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	124	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	124	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	124	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	154	154	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	154	154	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	154	154	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	154	154	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	155	155	Sequence conflict	Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	155	155	Sequence conflict	Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	155	155	Sequence conflict	Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	155	155	Sequence conflict	Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
P15104	55	109	60	63	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	60	63	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	60	63	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	60	63	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	69	71	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	69	71	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	69	71	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	69	71	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	76	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	76	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	76	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	76	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	95	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	95	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	95	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	95	102	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	55	109	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	55	109	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	55	109	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	55	109	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	54	56	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	72	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	72	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	72	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	72	74	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	55	109	104	104	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P15105
P15104	55	109	104	104	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P15105
P15104	55	109	104	104	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P15105
P15104	55	109	104	104	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P15105
P15104	55	109	64	68	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	64	68	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	64	68	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	64	68	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	88	90	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	88	90	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	88	90	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	55	109	88	90	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	130	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	130	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	130	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	130	140	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	144	146	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	109	158	144	146	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	109	158	144	146	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	109	158	144	146	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2QC8
P15104	109	158	158	160	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	158	160	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	158	160	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	158	160	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	109	158	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	109	158	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	109	158	2	373	Chain	ID=PRO_0000153139;Note=Glutamine synthetase
P15104	109	158	114	123	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	114	123	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	114	123	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	114	123	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	124	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	124	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	124	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	124	127	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2OJW
P15104	109	158	154	154	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	154	154	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	154	154	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	154	154	Sequence conflict	Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	155	155	Sequence conflict	Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	155	155	Sequence conflict	Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	155	155	Sequence conflict	Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
P15104	109	158	155	155	Sequence conflict	Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for GLUL

- 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
LUAD	TCGA-78-8662-01	exon_skip_34940	182354492	182354691	182354607	182354608	Frame_Shift_Del	CA	-	p.CE229fs
BRCA	TCGA-E9-A1R5-01	exon_skip_34946	182355391	182355537	182355487	182355487	Nonsense_Mutation	G	A	p.Q127*
UCEC	TCGA-AP-A0LM-01	exon_skip_34951	182356266	182356427	182356278	182356278	Nonsense_Mutation	G	A	p.R106*
UCEC	TCGA-D1-A16X-01	exon_skip_34951	182356266	182356427	182356278	182356278	Nonsense_Mutation	G	A	p.R106*
HNSC	TCGA-CR-7402-01	exon_skip_34940	182354492	182354691	182354693	182354693	Splice_Site	T	C	p.W202_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-D1-A16X-01
	Cancer type: UCEC
	ESID: exon_skip_34951
	Skipped exon start: 182356266
	Skipped exon end: 182356427
	Mutation start: 182356278
	Mutation end: 182356278
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R106*
exon_skip_34951_UCEC_TCGA-D1-A16X-01.png
exon_skip_479551_UCEC_TCGA-D1-A16X-01.png
exon_skip_80665_UCEC_TCGA-D1-A16X-01.png
exon_skip_97620_UCEC_TCGA-D1-A16X-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
SNU175_LARGE_INTESTINE	182354492	182354691	182354547	182354547	Missense_Mutation	C	T	p.A250T
MTA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	182354492	182354691	182354615	182354615	Missense_Mutation	C	T	p.R227H
OCUM1_STOMACH	182354492	182354691	182354615	182354615	Missense_Mutation	C	T	p.R227H
HEC265_ENDOMETRIUM	182354492	182354691	182354615	182354615	Missense_Mutation	C	T	p.R227H
ECC10_STOMACH	182354492	182354691	182354615	182354615	Missense_Mutation	C	T	p.R227H
MZ2MEL_SKIN	182354492	182354691	182354680	182354680	Missense_Mutation	C	G	p.Q205H
OVCA420_OVARY	182354492	182354691	182354682	182354682	Missense_Mutation	G	T	p.Q205K
EN_ENDOMETRIUM	182354895	182355022	182354926	182354926	Missense_Mutation	G	A	p.A191V
IM95_STOMACH	182354895	182355022	182354965	182354965	Missense_Mutation	G	A	p.A178V
NCIH510_LUNG	182355391	182355537	182355418	182355418	Missense_Mutation	G	C	p.P150A
SKMEL30_SKIN	182355391	182355537	182355428	182355429	Missense_Mutation	GG	AA	p.P146L
SKMEL30_SKIN	182355391	182355537	182355429	182355429	Missense_Mutation	G	A	p.P146L
OVCAR5_OVARY	182355391	182355537	182355493	182355493	Missense_Mutation	T	C	p.S125G
OVCAR5_OVARY	182355497	182355537	182355493	182355493	Missense_Mutation	T	C	p.S125G
HEC108_ENDOMETRIUM	182355391	182355537	182355506	182355506	Missense_Mutation	T	C	p.I120M
HEC108_ENDOMETRIUM	182355497	182355537	182355506	182355506	Missense_Mutation	T	C	p.I120M
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	182355391	182355537	182355510	182355510	Missense_Mutation	C	T	p.R119Q
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	182355497	182355537	182355510	182355510	Missense_Mutation	C	T	p.R119Q
COGN305_AUTONOMIC_GANGLIA	182356266	182356427	182356400	182356400	Missense_Mutation	G	T	p.S65Y
HT115_LARGE_INTESTINE	182356266	182356427	182356278	182356278	Nonsense_Mutation	G	A	p.R106*

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

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_34951	1	182355496:182355537:182356265:182356427:182357706:182357885	182356265:182356427	ENST00000311223.5,ENST00000339526.4,ENST00000475808.1,ENST00000489818.1,ENST00000480604.1,ENST00000417584.2,ENST00000331872.6,ENST00000484996.1	LGG	rs1058111	chr1:182356399	A/G	1.48e-04
exon_skip_34951	1	182355496:182355537:182356265:182356427:182357706:182357885	182356265:182356427	ENST00000311223.5,ENST00000339526.4,ENST00000475808.1,ENST00000489818.1,ENST00000480604.1,ENST00000417584.2,ENST00000331872.6,ENST00000484996.1	LGG	rs1058111	chr1:182356399	A/G	3.48e-03

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

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

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RelatedDrugs for GLUL

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
	P15104	DB00130	L-Glutamine	Glutamine synthetase	small molecule	approved\|investigational\|nutraceutical
	P15104	DB00142	Glutamic Acid	Glutamine synthetase	small molecule	approved\|nutraceutical

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RelatedDiseases for GLUL

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
GLUL	C0036341	Schizophrenia	4	PSYGENET
GLUL	C0001973	Alcoholic Intoxication, Chronic	2	PSYGENET
GLUL	C0023904	Liver Neoplasms, Experimental	2	CTD_human
GLUL	C0011570	Mental Depression	1	PSYGENET
GLUL	C0011581	Depressive disorder	1	PSYGENET
GLUL	C0019151	Hepatic Encephalopathy	1	CTD_human
GLUL	C0028754	Obesity	1	CTD_human
GLUL	C0033975	Psychotic Disorders	1	PSYGENET
GLUL	C0236663	Alcohol withdrawal syndrome	1	PSYGENET
GLUL	C0525045	Mood Disorders	1	PSYGENET
GLUL	C0752109	Brain Diseases, Metabolic, Inborn	1	CTD_human
GLUL	C1864910	Glutamine deficiency, congenital	1	CTD_human;ORPHANET;UNIPROT
GLUL	C2239176	Liver carcinoma	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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