ExonSkipAD: 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 synthasepalmitoyltransferase GLULproliferation-inducing protein 43
	Modification date	20200313
	UniProtAcc	A0A2R8YDT1, A1L199, A8YXX4, P15104,
	Context

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
GLUL	GO:0010594	regulation of endothelial cell migration	30158707
GLUL	GO:0018345	protein palmitoylation	30158707
GLUL	GO:1903670	regulation of sprouting angiogenesis	30158707

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Gene structures and expression levels for GLUL

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000135821

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
PG	UP	ENST00000331872.10	GLUL-202:protein_coding:GLUL	7.278065e+02	1.121780e+00	3.686312e-06	2.401066e-04
TC	UP	ENST00000489818.5	GLUL-211:lncRNA:GLUL	3.332471e+03	1.065825e+00	1.348186e-07	7.815046e-06
TC	UP	ENST00000461447.1	GLUL-205:lncRNA:GLUL	3.679062e+03	9.680094e-01	1.026403e-05	2.644047e-04
TC	UP	ENST00000311223.9	GLUL-201:protein_coding:GLUL	8.086266e+01	9.052117e-01	1.092095e-05	2.774523e-04
TC	UP	ENST00000463851.6	GLUL-207:lncRNA:GLUL	5.247974e+03	1.009172e+00	1.729168e-04	2.487268e-03
TC	UP	ENST00000484996.5	GLUL-210:lncRNA:GLUL	7.811986e+00	8.266327e-01	4.045978e-04	4.877726e-03

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GLUL

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_122615	chr1	182385760:182385887:182386362:182386402:182387131:182387292	182386362:182386402
exon_skip_178255	chr1	182388724:182388750:182390497:182390852:182391679:182391759	182390497:182390852
exon_skip_192522	chr1	182386362:182386402:182387131:182387292:182388572:182388750	182387131:182387292
exon_skip_206725	chr1	182384415:182384723:182385357:182385556:182385760:182385842	182385357:182385556
exon_skip_273922	chr1	182385836:182385887:182386362:182386402:182387131:182387292	182386362:182386402
exon_skip_39459	chr1	182385836:182385887:182386256:182386402:182387131:182387292	182386256:182386402
exon_skip_50775	chr1	182385760:182385887:182386256:182386402:182387131:182387292	182386256:182386402
exon_skip_73706	chr1	182388704:182388750:182390497:182390852:182391679:182391759	182390497:182390852

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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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 ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000311223	182390497	182390852	3UTR-3UTR
ENST00000311223	182385357	182385556	Frame-shift
ENST00000331872	182385357	182385556	Frame-shift
ENST00000339526	182385357	182385556	Frame-shift
ENST00000417584	182385357	182385556	Frame-shift
ENST00000311223	182386256	182386402	In-frame
ENST00000331872	182386256	182386402	In-frame
ENST00000339526	182386256	182386402	In-frame
ENST00000417584	182386256	182386402	In-frame
ENST00000311223	182387131	182387292	In-frame
ENST00000331872	182387131	182387292	In-frame
ENST00000339526	182387131	182387292	In-frame
ENST00000417584	182387131	182387292	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000311223	182390497	182390852	3UTR-3UTR
ENST00000311223	182387131	182387292	In-frame
ENST00000331872	182387131	182387292	In-frame
ENST00000339526	182387131	182387292	In-frame
ENST00000417584	182387131	182387292	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000311223	182390497	182390852	3UTR-3UTR
ENST00000311223	182385357	182385556	Frame-shift
ENST00000331872	182385357	182385556	Frame-shift
ENST00000339526	182385357	182385556	Frame-shift
ENST00000417584	182385357	182385556	Frame-shift
ENST00000311223	182386256	182386402	In-frame
ENST00000331872	182386256	182386402	In-frame
ENST00000339526	182386256	182386402	In-frame
ENST00000417584	182386256	182386402	In-frame
ENST00000311223	182387131	182387292	In-frame
ENST00000331872	182387131	182387292	In-frame
ENST00000339526	182387131	182387292	In-frame
ENST00000417584	182387131	182387292	In-frame

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

p-ENSG00000135821_img4.png
boxplot

Loci of skipped exons in ROSMAP 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	182387131	182387292	1064	1224	55	109
ENST00000331872	4381	373	182387131	182387292	708	868	55	109
ENST00000339526	3959	373	182387131	182387292	1476	1636	55	109
ENST00000417584	4082	373	182387131	182387292	410	570	55	109
ENST00000311223	4736	373	182386256	182386402	1226	1371	109	158
ENST00000331872	4381	373	182386256	182386402	870	1015	109	158
ENST00000339526	3959	373	182386256	182386402	1638	1783	109	158
ENST00000417584	4082	373	182386256	182386402	572	717	109	158

Loci of skipped exons in MSBB 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	182387131	182387292	1064	1224	55	109
ENST00000331872	4381	373	182387131	182387292	708	868	55	109
ENST00000339526	3959	373	182387131	182387292	1476	1636	55	109
ENST00000417584	4082	373	182387131	182387292	410	570	55	109

Loci of skipped exons in Mayo 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	182387131	182387292	1064	1224	55	109
ENST00000331872	4381	373	182387131	182387292	708	868	55	109
ENST00000339526	3959	373	182387131	182387292	1476	1636	55	109
ENST00000417584	4082	373	182387131	182387292	410	570	55	109
ENST00000311223	4736	373	182386256	182386402	1226	1371	109	158
ENST00000331872	4381	373	182386256	182386402	870	1015	109	158
ENST00000339526	3959	373	182386256	182386402	1638	1783	109	158
ENST00000417584	4082	373	182386256	182386402	572	717	109	158

Lost protein functional features of individual exon skipping events in ROSMAP.

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 MSBB.

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

Lost protein functional features of individual exon skipping events in Mayo.

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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3'-UTR located exon skipping events that lost miRNA binding sites in GLUL

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type	ENST	Exon skip start	Exon skip end	microRNA	Binding site by TargetScan	Binding type by TargetScan	Bdinding site by miRanda	Score of miRanda	Energy by miRanda
Mayo	ENST00000311223	182390497	182390852	hsa-miR-4251	chr1:182390581-182390588	8mer-1a	chr1:182390572-182390593	151.00	-17.94
Mayo	ENST00000311223	182390497	182390852	hsa-miR-3664-5p	chr1:182390731-182390738	8mer-1a	chr1:182390722-182390742	150.00	-16.89
Mayo	ENST00000311223	182390497	182390852	hsa-miR-6756-3p	chr1:182390635-182390642	8mer-1a	chr1:182390631-182390651	170.00	-29.89
Mayo	ENST00000311223	182390497	182390852	hsa-miR-5007-5p	chr1:182390586-182390593	8mer-1a	chr1:182390572-182390593	151.00	-17.94
Mayo	ENST00000311223	182390497	182390852	hsa-miR-1181	chr1:182390739-182390746	8mer-1a	chr1:182390725-182390746	142.00	-17.98
Mayo	ENST00000311223	182390497	182390852	hsa-miR-3127-3p	chr1:182390635-182390642	8mer-1a	chr1:182390631-182390651	170.00	-29.89
Mayo	ENST00000311223	182390497	182390852	hsa-miR-4776-5p	chr1:182390596-182390603	8mer-1a	chr1:182390590-182390610	150.00	-19.84
Mayo	ENST00000311223	182390497	182390852	hsa-miR-361-3p	chr1:182390836-182390843	8mer-1a	chr1:182390821-182390843	159.00	-24.79
MSBB	ENST00000311223	182390497	182390852	hsa-miR-4251	chr1:182390581-182390588	8mer-1a	chr1:182390572-182390593	151.00	-17.94
MSBB	ENST00000311223	182390497	182390852	hsa-miR-3664-5p	chr1:182390731-182390738	8mer-1a	chr1:182390722-182390742	150.00	-16.89
MSBB	ENST00000311223	182390497	182390852	hsa-miR-6756-3p	chr1:182390635-182390642	8mer-1a	chr1:182390631-182390651	170.00	-29.89
MSBB	ENST00000311223	182390497	182390852	hsa-miR-5007-5p	chr1:182390586-182390593	8mer-1a	chr1:182390572-182390593	151.00	-17.94
MSBB	ENST00000311223	182390497	182390852	hsa-miR-1181	chr1:182390739-182390746	8mer-1a	chr1:182390725-182390746	142.00	-17.98
MSBB	ENST00000311223	182390497	182390852	hsa-miR-3127-3p	chr1:182390635-182390642	8mer-1a	chr1:182390631-182390651	170.00	-29.89
MSBB	ENST00000311223	182390497	182390852	hsa-miR-4776-5p	chr1:182390596-182390603	8mer-1a	chr1:182390590-182390610	150.00	-19.84
MSBB	ENST00000311223	182390497	182390852	hsa-miR-361-3p	chr1:182390836-182390843	8mer-1a	chr1:182390821-182390843	159.00	-24.79
ROSMAP	ENST00000311223	182390497	182390852	hsa-miR-4251	chr1:182390581-182390588	8mer-1a	chr1:182390572-182390593	151.00	-17.94
ROSMAP	ENST00000311223	182390497	182390852	hsa-miR-3664-5p	chr1:182390731-182390738	8mer-1a	chr1:182390722-182390742	150.00	-16.89
ROSMAP	ENST00000311223	182390497	182390852	hsa-miR-6756-3p	chr1:182390635-182390642	8mer-1a	chr1:182390631-182390651	170.00	-29.89
ROSMAP	ENST00000311223	182390497	182390852	hsa-miR-5007-5p	chr1:182390586-182390593	8mer-1a	chr1:182390572-182390593	151.00	-17.94
ROSMAP	ENST00000311223	182390497	182390852	hsa-miR-1181	chr1:182390739-182390746	8mer-1a	chr1:182390725-182390746	142.00	-17.98
ROSMAP	ENST00000311223	182390497	182390852	hsa-miR-3127-3p	chr1:182390635-182390642	8mer-1a	chr1:182390631-182390651	170.00	-29.89
ROSMAP	ENST00000311223	182390497	182390852	hsa-miR-4776-5p	chr1:182390596-182390603	8mer-1a	chr1:182390590-182390610	150.00	-19.84
ROSMAP	ENST00000311223	182390497	182390852	hsa-miR-361-3p	chr1:182390836-182390843	8mer-1a	chr1:182390821-182390843	159.00	-24.79

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SNVs in the skipped exons for GLUL

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for GLUL

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for GLUL

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for GLUL

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P15104	approved\|investigational\|nutraceutical	DB00130	L-Glutamine	small molecule	P15104
P15104	approved\|nutraceutical	DB00142	Glutamic Acid	small molecule	P15104

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RelatedDiseases for GLUL

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for GLUL

Gene structures and expression levels for GLUL

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GLUL

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

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

3'-UTR located exon skipping events that lost miRNA binding sites in GLUL

SNVs in the skipped exons for GLUL

AD stage-associated exon skippint events for GLUL

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

Correlation with RNA binding proteins (RBPs) for GLUL

RelatedDrugs for GLUL

RelatedDiseases for GLUL