ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for GSR

Gene summary

Gene information	Gene symbol	GSR
	Gene ID	2936
	Gene name	glutathione-disulfide reductase
	Synonyms	GR\|HEL-75\|HEL-S-122m
	Cytomap	8p12
	Type of gene	protein-coding
	Description	glutathione reductase, mitochondrialGRaseepididymis luminal protein 75epididymis secretory sperm binding protein Li 122mglutathione S-reductase
	Modification date	20180523
	UniProtAcc	P00390
	Context	PubMed: GSR [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 GSR 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 GSR

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 GSR

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_489069	8	30538420:30538554:30539446:30539578:30541604:30541716	30539446:30539578	ENSG00000104687.8	ENST00000221130.5,ENST00000541648.1,ENST00000546342.1,ENST00000537535.1,ENST00000414019.1
exon_skip_489071	8	30541604:30541716:30546677:30546836:30550485:30550572	30546677:30546836	ENSG00000104687.8	ENST00000221130.5,ENST00000523295.1,ENST00000414019.1
exon_skip_489072	8	30541604:30541716:30546677:30546836:30553896:30553990	30546677:30546836	ENSG00000104687.8	ENST00000546342.1
exon_skip_489073	8	30541604:30541716:30550485:30550572:30553896:30553990	30550485:30550572	ENSG00000104687.8	ENST00000541648.1
exon_skip_489074	8	30546678:30546836:30550485:30550572:30553896:30553973	30550485:30550572	ENSG00000104687.8	ENST00000221130.5,ENST00000520888.1,ENST00000523295.1,ENST00000414019.1
exon_skip_489076	8	30550485:30550572:30553896:30553990:30557597:30557652	30553896:30553990	ENSG00000104687.8	ENST00000520888.1
exon_skip_489077	8	30550485:30550572:30553896:30553996:30557597:30557652	30553896:30553996	ENSG00000104687.8	ENST00000221130.5,ENST00000541648.1,ENST00000414019.1
exon_skip_489078	8	30553921:30553996:30557597:30557652:30560609:30560757	30557597:30557652	ENSG00000104687.8	ENST00000521479.1,ENST00000221130.5,ENST00000541648.1,ENST00000546342.1,ENST00000537535.1,ENST00000414019.1
exon_skip_489082	8	30553921:30553996:30565588:30565658:30567330:30567419	30565588:30565658	ENSG00000104687.8	ENST00000523295.1
exon_skip_489084	8	30557597:30557652:30560609:30560757:30565588:30565658	30560609:30560757	ENSG00000104687.8	ENST00000521479.1,ENST00000221130.5,ENST00000520888.1,ENST00000541648.1,ENST00000546342.1,ENST00000537535.1,ENST00000414019.1
exon_skip_489088	8	30560609:30560757:30565588:30565658:30567330:30567419	30565588:30565658	ENSG00000104687.8	ENST00000521479.1,ENST00000221130.5,ENST00000520888.1,ENST00000541648.1,ENST00000546342.1,ENST00000537535.1,ENST00000414019.1
exon_skip_489090	8	30565588:30565658:30567330:30567419:30569578:30569605	30567330:30567419	ENSG00000104687.8	ENST00000521479.1,ENST00000221130.5,ENST00000520888.1,ENST00000523295.1,ENST00000541648.1,ENST00000546342.1,ENST00000537535.1,ENST00000414019.1
exon_skip_489092	8	30567330:30567419:30569578:30569605:30585046:30585184	30569578:30569605	ENSG00000104687.8	ENST00000520888.1,ENST00000523295.1,ENST00000541648.1,ENST00000546342.1,ENST00000537535.1,ENST00000414019.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for GSR

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_489069	8	30538420:30538554:30539446:30539578:30541604:30541716	30539446:30539578	ENSG00000104687.8	ENST00000221130.5,ENST00000414019.1,ENST00000546342.1,ENST00000541648.1,ENST00000537535.1
exon_skip_489071	8	30541604:30541716:30546677:30546836:30550485:30550572	30546677:30546836	ENSG00000104687.8	ENST00000221130.5,ENST00000414019.1,ENST00000523295.1
exon_skip_489072	8	30541604:30541716:30546677:30546836:30553896:30553990	30546677:30546836	ENSG00000104687.8	ENST00000546342.1
exon_skip_489073	8	30541604:30541716:30550485:30550572:30553896:30553990	30550485:30550572	ENSG00000104687.8	ENST00000541648.1
exon_skip_489074	8	30546678:30546836:30550485:30550572:30553896:30553973	30550485:30550572	ENSG00000104687.8	ENST00000221130.5,ENST00000414019.1,ENST00000523295.1,ENST00000520888.1
exon_skip_489076	8	30550485:30550572:30553896:30553990:30557597:30557652	30553896:30553990	ENSG00000104687.8	ENST00000520888.1
exon_skip_489077	8	30550485:30550572:30553896:30553996:30557597:30557652	30553896:30553996	ENSG00000104687.8	ENST00000221130.5,ENST00000414019.1,ENST00000541648.1
exon_skip_489078	8	30553921:30553996:30557597:30557652:30560609:30560757	30557597:30557652	ENSG00000104687.8	ENST00000221130.5,ENST00000414019.1,ENST00000546342.1,ENST00000541648.1,ENST00000537535.1,ENST00000521479.1
exon_skip_489082	8	30553921:30553996:30565588:30565658:30567330:30567419	30565588:30565658	ENSG00000104687.8	ENST00000523295.1
exon_skip_489084	8	30557597:30557652:30560609:30560757:30565588:30565658	30560609:30560757	ENSG00000104687.8	ENST00000221130.5,ENST00000414019.1,ENST00000546342.1,ENST00000541648.1,ENST00000537535.1,ENST00000520888.1,ENST00000521479.1
exon_skip_489088	8	30560609:30560757:30565588:30565658:30567330:30567419	30565588:30565658	ENSG00000104687.8	ENST00000221130.5,ENST00000414019.1,ENST00000546342.1,ENST00000541648.1,ENST00000537535.1,ENST00000520888.1,ENST00000521479.1
exon_skip_489090	8	30565588:30565658:30567330:30567419:30569578:30569605	30567330:30567419	ENSG00000104687.8	ENST00000221130.5,ENST00000414019.1,ENST00000546342.1,ENST00000541648.1,ENST00000537535.1,ENST00000523295.1,ENST00000520888.1,ENST00000521479.1
exon_skip_489092	8	30567330:30567419:30569578:30569605:30585046:30585184	30569578:30569605	ENSG00000104687.8	ENST00000414019.1,ENST00000546342.1,ENST00000541648.1,ENST00000537535.1,ENST00000523295.1,ENST00000520888.1

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 GSR

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
ENST00000221130	30553896	30553996	Frame-shift
ENST00000221130	30557597	30557652	Frame-shift
ENST00000221130	30560609	30560757	Frame-shift
ENST00000221130	30565588	30565658	Frame-shift
ENST00000221130	30567330	30567419	Frame-shift
ENST00000221130	30539446	30539578	In-frame
ENST00000221130	30546677	30546836	In-frame
ENST00000221130	30550485	30550572	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
ENST00000221130	30553896	30553996	Frame-shift
ENST00000221130	30557597	30557652	Frame-shift
ENST00000221130	30560609	30560757	Frame-shift
ENST00000221130	30565588	30565658	Frame-shift
ENST00000221130	30567330	30567419	Frame-shift
ENST00000221130	30539446	30539578	In-frame
ENST00000221130	30546677	30546836	In-frame
ENST00000221130	30550485	30550572	In-frame

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

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
ENST00000221130	3131	522	30550485	30550572	887	973	265	294
ENST00000221130	3131	522	30546677	30546836	974	1132	294	347
ENST00000221130	3131	522	30539446	30539578	1245	1376	384	428

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
ENST00000221130	3131	522	30550485	30550572	887	973	265	294
ENST00000221130	3131	522	30546677	30546836	974	1132	294	347
ENST00000221130	3131	522	30539446	30539578	1245	1376	384	428

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
P00390	265	294	266	294	Alternative sequence	ID=VSP_042908;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20628807;Dbxref=PMID:20628807
P00390	265	294	262	266	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	265	294	288	290	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	265	294	293	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	265	294	44	522	Chain	ID=PRO_0000030276;Note=Glutathione reductase%2C mitochondrial
P00390	265	294	272	284	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	294	347	266	294	Alternative sequence	ID=VSP_042908;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20628807;Dbxref=PMID:20628807
P00390	294	347	295	347	Alternative sequence	ID=VSP_042909;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20628807;Dbxref=PMID:20628807
P00390	294	347	293	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	294	347	302	311	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	294	347	319	331	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	294	347	335	338	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	294	347	44	522	Chain	ID=PRO_0000030276;Note=Glutathione reductase%2C mitochondrial
P00390	294	347	344	347	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	294	347	297	297	Natural variant	ID=VAR_019082;Note=E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.3;Dbxref=dbSNP:rs8191004
P00390	294	347	314	314	Natural variant	ID=VAR_014554;Note=P->H;Dbxref=dbSNP:rs2020916
P00390	294	347	340	343	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3GRS
P00390	384	428	413	415	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	384	428	417	419	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GSN
P00390	384	428	421	425	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	384	428	44	522	Chain	ID=PRO_0000030276;Note=Glutathione reductase%2C mitochondrial
P00390	384	428	383	398	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	384	428	428	435	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9

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
P00390	265	294	266	294	Alternative sequence	ID=VSP_042908;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20628807;Dbxref=PMID:20628807
P00390	265	294	262	266	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	265	294	288	290	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	265	294	293	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	265	294	44	522	Chain	ID=PRO_0000030276;Note=Glutathione reductase%2C mitochondrial
P00390	265	294	272	284	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	294	347	266	294	Alternative sequence	ID=VSP_042908;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20628807;Dbxref=PMID:20628807
P00390	294	347	295	347	Alternative sequence	ID=VSP_042909;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20628807;Dbxref=PMID:20628807
P00390	294	347	293	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	294	347	302	311	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	294	347	319	331	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	294	347	335	338	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	294	347	44	522	Chain	ID=PRO_0000030276;Note=Glutathione reductase%2C mitochondrial
P00390	294	347	344	347	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	294	347	297	297	Natural variant	ID=VAR_019082;Note=E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.3;Dbxref=dbSNP:rs8191004
P00390	294	347	314	314	Natural variant	ID=VAR_014554;Note=P->H;Dbxref=dbSNP:rs2020916
P00390	294	347	340	343	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3GRS
P00390	384	428	413	415	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	384	428	417	419	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GSN
P00390	384	428	421	425	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	384	428	44	522	Chain	ID=PRO_0000030276;Note=Glutathione reductase%2C mitochondrial
P00390	384	428	383	398	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9
P00390	384	428	428	435	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3DK9

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SNVs in the skipped exons for GSR

- 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
COAD	TCGA-AA-3492-01	exon_skip_489069	30539447	30539578	30539473	30539473	Frame_Shift_Del	G	-	p.P338fs
ESCA	TCGA-L5-A43J-01	exon_skip_489071 exon_skip_489072	30546678	30546836	30546820	30546820	Frame_Shift_Del	T	-	p.K300fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_489084	30560610	30560757	30560681	30560681	Frame_Shift_Del	T	-	p.K190fs
UCS	TCGA-N7-A4Y0-01	exon_skip_489069	30539447	30539578	30539472	30539473	Frame_Shift_Ins	-	G	p.H420fs
UCS	TCGA-N7-A4Y0-01	exon_skip_489069	30539447	30539578	30539472	30539473	Frame_Shift_Ins	-	G	p.P420fs
COAD	TCGA-A6-6653-01	exon_skip_489092	30569579	30569605	30569579	30569580	Frame_Shift_Ins	-	T	p.K111fs
CESC	TCGA-Q1-A6DW-01	exon_skip_489069	30539447	30539578	30539546	30539546	Nonsense_Mutation	G	A	p.R396*
LUAD	TCGA-NJ-A4YF-01	exon_skip_489074 exon_skip_489073	30550486	30550572	30550566	30550566	Nonsense_Mutation	T	A	p.R268*
OV	TCGA-23-1118-01	exon_skip_489090	30567331	30567419	30567420	30567420	Splice_Site	C	C	e3-1

- 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
COLO668_LUNG	30560610	30560757	30560669	30560669	Frame_Shift_Del	G	-	p.P194fs
NCIH630_LARGE_INTESTINE	30539447	30539578	30539452	30539452	Missense_Mutation	G	A	p.T427M
NCIH64_LUNG	30546678	30546836	30546709	30546709	Missense_Mutation	G	A	p.P337L
ASPC1_PANCREAS	30546678	30546836	30546748	30546748	Missense_Mutation	G	A	p.P324L
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	30546678	30546836	30546785	30546785	Missense_Mutation	C	T	p.A312T
LN464_CENTRAL_NERVOUS_SYSTEM	30553897	30553996	30553911	30553911	Missense_Mutation	T	C	p.I261V
LN464_CENTRAL_NERVOUS_SYSTEM	30553897	30553990	30553911	30553911	Missense_Mutation	T	C	p.I261V
ACN_AUTONOMIC_GANGLIA	30553897	30553996	30553911	30553911	Missense_Mutation	T	C	p.I261V
ACN_AUTONOMIC_GANGLIA	30553897	30553990	30553911	30553911	Missense_Mutation	T	C	p.I261V
COGAR359_SOFT_TISSUE	30553897	30553996	30553968	30553968	Missense_Mutation	T	C	p.I242V
COGAR359_SOFT_TISSUE	30553897	30553990	30553968	30553968	Missense_Mutation	T	C	p.I242V
BXPC3_PANCREAS	30557598	30557652	30557646	30557646	Missense_Mutation	C	G	p.S216T
LS411N_LARGE_INTESTINE	30560610	30560757	30560690	30560690	Missense_Mutation	C	T	p.S187N
NMCG1_CENTRAL_NERVOUS_SYSTEM	30560610	30560757	30560730	30560730	Missense_Mutation	C	T	p.A174T
JHUEM7_ENDOMETRIUM	30565589	30565658	30565623	30565623	Missense_Mutation	C	T	p.R153H
H290_PLEURA	30567331	30567419	30567406	30567406	Missense_Mutation	G	A	p.T116I
ESO51_OESOPHAGUS	30567331	30567419	30567413	30567413	Missense_Mutation	A	C	p.W114G
KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	30567331	30567419	30567418	30567418	Splice_Site	A	T	p.V112E

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

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 GSR

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

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RelatedDrugs for GSR

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
	P00390	DB00262	Carmustine	Glutathione reductase, mitochondrial	small molecule	approved\|investigational
	P00390	DB00143	Glutathione	Glutathione reductase, mitochondrial	small molecule	approved\|investigational\|nutraceutical

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RelatedDiseases for GSR

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
GSR	C0002736	Amyotrophic Lateral Sclerosis	1	CTD_human
GSR	C0002871	Anemia	1	CTD_human
GSR	C0002878	Anemia, Hemolytic	1	CTD_human
GSR	C0011616	Contact Dermatitis	1	CTD_human
GSR	C0011853	Diabetes Mellitus, Experimental	1	CTD_human
GSR	C0013604	Edema	1	CTD_human
GSR	C0020550	Hyperthyroidism	1	CTD_human
GSR	C0020615	Hypoglycemia	1	CTD_human
GSR	C0033626	Protein Deficiency	1	CTD_human
GSR	C0242422	Parkinsonian Disorders	1	CTD_human
GSR	C0524851	Neurodegenerative Disorders	1	CTD_human
GSR	C1456865	Ureteral Calculi	1	CTD_human
GSR	C4277682	Chemical and Drug Induced Liver Injury	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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