ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for GGT5

Gene summary

Gene information	Gene symbol	GGT5
	Gene ID	2687
	Gene name	gamma-glutamyltransferase 5
	Synonyms	GGL\|GGT 5\|GGT-REL\|GGTLA1
	Cytomap	22q11.23
	Type of gene	protein-coding
	Description	glutathione hydrolase 5 proenzymegamma-glutamyl cleaving enzymegamma-glutamyl transpeptidase-related enzymegamma-glutamyl transpeptidase-related proteingamma-glutamyltransferase-like activity 1gamma-glutamyltranspeptidase 5glutathione hydrolase 5le
	Modification date	20180519
	UniProtAcc	P36269
	Context	PubMed: GGT5 [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
GGT5	GO:0006508	proteolysis	1676842
GGT5	GO:0006520	cellular amino acid metabolic process	1676842
GGT5	GO:0006631	fatty acid metabolic process	21447318
GGT5	GO:0006751	glutathione catabolic process	1676842\|21447318
GGT5	GO:1901750	leukotriene D4 biosynthetic process	1676842\|21447318

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Exon skipping events across known transcript of Ensembl for GGT5 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 GGT5

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 GGT5

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_367955	22	24616012:24616084:24616459:24616552:24620963:24621074	24616459:24616552	ENSG00000099998.13	ENST00000425408.1
exon_skip_367965	22	24615707:24616084:24620963:24621074:24621212:24621277	24620963:24621074	ENSG00000099998.13	ENST00000398292.3,ENST00000418439.2,ENST00000327365.4,ENST00000263112.7
exon_skip_368002	22	24620963:24621074:24621212:24621379:24621513:24621620	24621212:24621379	ENSG00000099998.13	ENST00000327365.4,ENST00000425408.1,ENST00000263112.7
exon_skip_368003	22	24620963:24621074:24621212:24621382:24621513:24621620	24621212:24621382	ENSG00000099998.13	ENST00000398292.3,ENST00000418439.2
exon_skip_368006	22	24621212:24621379:24621513:24621620:24622043:24622080	24621513:24621620	ENSG00000099998.13	ENST00000327365.4,ENST00000425408.1,ENST00000263112.7
exon_skip_368008	22	24621513:24621620:24622043:24622234:24622598:24622717	24622043:24622234	ENSG00000099998.13	ENST00000398292.3,ENST00000418439.2,ENST00000327365.4,ENST00000263112.7
exon_skip_368014	22	24627351:24627498:24628018:24628172:24628790:24628986	24628018:24628172	ENSG00000099998.13	ENST00000418439.2
exon_skip_368016	22	24627351:24627498:24628018:24628176:24628790:24628986	24628018:24628176	ENSG00000099998.13	ENST00000398292.3,ENST00000327365.4,ENST00000263112.7
exon_skip_368022	22	24628940:24628986:24629465:24629561:24629841:24629970	24629465:24629561	ENSG00000099998.13	ENST00000398292.3,ENST00000327365.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for GGT5

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_367955	22	24616012:24616084:24616459:24616552:24620963:24621074	24616459:24616552	ENSG00000099998.13	ENST00000425408.1
exon_skip_367965	22	24615707:24616084:24620963:24621074:24621212:24621277	24620963:24621074	ENSG00000099998.13	ENST00000263112.7,ENST00000327365.4,ENST00000398292.3,ENST00000418439.2
exon_skip_368002	22	24620963:24621074:24621212:24621379:24621513:24621620	24621212:24621379	ENSG00000099998.13	ENST00000263112.7,ENST00000327365.4,ENST00000425408.1
exon_skip_368003	22	24620963:24621074:24621212:24621382:24621513:24621620	24621212:24621382	ENSG00000099998.13	ENST00000398292.3,ENST00000418439.2
exon_skip_368006	22	24621212:24621379:24621513:24621620:24622043:24622080	24621513:24621620	ENSG00000099998.13	ENST00000263112.7,ENST00000327365.4,ENST00000425408.1
exon_skip_368008	22	24621513:24621620:24622043:24622234:24622598:24622717	24622043:24622234	ENSG00000099998.13	ENST00000263112.7,ENST00000327365.4,ENST00000398292.3,ENST00000418439.2
exon_skip_368014	22	24627351:24627498:24628018:24628172:24628790:24628986	24628018:24628172	ENSG00000099998.13	ENST00000418439.2
exon_skip_368016	22	24627351:24627498:24628018:24628176:24628790:24628986	24628018:24628176	ENSG00000099998.13	ENST00000263112.7,ENST00000327365.4,ENST00000398292.3
exon_skip_368022	22	24628940:24628986:24629465:24629561:24629841:24629970	24629465:24629561	ENSG00000099998.13	ENST00000327365.4,ENST00000398292.3

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 GGT5

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
ENST00000327365	24621212	24621379	Frame-shift
ENST00000327365	24621513	24621620	Frame-shift
ENST00000327365	24622043	24622234	Frame-shift
ENST00000327365	24628018	24628176	Frame-shift
ENST00000327365	24620963	24621074	In-frame
ENST00000327365	24629465	24629561	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
ENST00000327365	24621212	24621379	Frame-shift
ENST00000327365	24621513	24621620	Frame-shift
ENST00000327365	24622043	24622234	Frame-shift
ENST00000327365	24628018	24628176	Frame-shift
ENST00000327365	24620963	24621074	In-frame
ENST00000327365	24629465	24629561	In-frame

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Infer the effects of exon skipping event on protein functional features for GGT5

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
ENST00000327365	2511	586	24629465	24629561	722	817	101	133
ENST00000327365	2511	586	24620963	24621074	1921	2031	501	538

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
ENST00000327365	2511	586	24629465	24629561	722	817	101	133
ENST00000327365	2511	586	24620963	24621074	1921	2031	501	538

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
P36269	101	133	101	132	Alternative sequence	ID=VSP_008146;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
P36269	101	133	110	110	Binding site	Note=Glutamate;Ontology_term=ECO:0000250;evidence=ECO:0000250
P36269	101	133	1	387	Chain	ID=PRO_0000011072;Note=Glutathione hydrolase 5 heavy chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
P36269	101	133	30	586	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P36269	501	538	388	586	Chain	ID=PRO_0000011073;Note=Glutathione hydrolase 5 light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
P36269	501	538	535	535	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P36269	501	538	30	586	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
P36269	101	133	101	132	Alternative sequence	ID=VSP_008146;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
P36269	101	133	110	110	Binding site	Note=Glutamate;Ontology_term=ECO:0000250;evidence=ECO:0000250
P36269	101	133	1	387	Chain	ID=PRO_0000011072;Note=Glutathione hydrolase 5 heavy chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
P36269	101	133	30	586	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P36269	501	538	388	586	Chain	ID=PRO_0000011073;Note=Glutathione hydrolase 5 light chain;Ontology_term=ECO:0000250;evidence=ECO:0000250
P36269	501	538	535	535	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P36269	501	538	30	586	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for GGT5

- 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.

GGT5_HNSC_exon_skip_368008_psi_boxplot.png
boxplot

GGT5_LIHC_exon_skip_368008_psi_boxplot.png
boxplot

GGT5_STAD_exon_skip_368008_psi_boxplot.png
boxplot

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A1EG-01	exon_skip_368002	24621213	24621379	24621334	24621334	Frame_Shift_Del	G	-	p.P461fs
LIHC	TCGA-DD-A1EG-01	exon_skip_368003	24621213	24621382	24621334	24621334	Frame_Shift_Del	G	-	p.P461fs
LIHC	TCGA-DD-A3A0-01	exon_skip_368006	24621514	24621620	24621537	24621537	Frame_Shift_Del	C	-	p.G438fs
LIHC	TCGA-DD-A1EG-01	exon_skip_368008	24622044	24622234	24622087	24622087	Frame_Shift_Del	C	-	p.E396fs
LIHC	TCGA-DD-A3A1-01	exon_skip_368008	24622044	24622234	24622161	24622161	Frame_Shift_Del	T	-	p.H371fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_368008	24622044	24622234	24622165	24622165	Frame_Shift_Del	C	-	p.D370fs
UCEC	TCGA-AP-A0LT-01	exon_skip_368008	24622044	24622234	24622165	24622165	Frame_Shift_Del	C	-	p.D370fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_368008	24622044	24622234	24622204	24622204	Frame_Shift_Del	G	-	p.L357fs
HNSC	TCGA-F7-A624-01	exon_skip_368008	24622044	24622234	24622210	24622210	Frame_Shift_Del	C	-	p.E355fs
LIHC	TCGA-DD-A3A0-01	exon_skip_368008	24622044	24622234	24622210	24622210	Frame_Shift_Del	C	-	p.E355fs
STAD	TCGA-SW-A7EA-01	exon_skip_368008	24622044	24622234	24622164	24622165	Frame_Shift_Ins	-	C	p.D370fs
STAD	TCGA-SW-A7EA-01	exon_skip_368008	24622044	24622234	24622164	24622165	Frame_Shift_Ins	-	C	p.P370fs
UCEC	TCGA-B5-A11E-01	exon_skip_368002	24621213	24621379	24621268	24621268	Nonsense_Mutation	G	A	p.R86*
UCEC	TCGA-B5-A11E-01	exon_skip_368003	24621213	24621382	24621268	24621268	Nonsense_Mutation	G	A	p.R86*
CESC	TCGA-C5-A7CK-01	exon_skip_368006	24621514	24621620	24621550	24621550	Nonsense_Mutation	G	A	p.R434*
UCEC	TCGA-AP-A0LM-01	exon_skip_368006	24621514	24621620	24621550	24621550	Nonsense_Mutation	G	A	p.R434*
READ	TCGA-EI-6506-01	exon_skip_368008	24622044	24622234	24622043	24622043	Splice_Site	C	T	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-SW-A7EA-01
	Cancer type: STAD
	ESID: exon_skip_368008
	Skipped exon start: 24622044
	Skipped exon end: 24622234
	Mutation start: 24622164
	Mutation end: 24622165
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.D370fs
	Sample: TCGA-SW-A7EA-01
	Cancer type: STAD
	ESID: exon_skip_368008
	Skipped exon start: 24622044
	Skipped exon end: 24622234
	Mutation start: 24622164
	Mutation end: 24622165
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: C
	AAchange: p.P370fs
exon_skip_145593_STAD_TCGA-SW-A7EA-01.png
exon_skip_286883_STAD_TCGA-SW-A7EA-01.png
exon_skip_286885_STAD_TCGA-SW-A7EA-01.png
exon_skip_317185_STAD_TCGA-SW-A7EA-01.png
exon_skip_317186_STAD_TCGA-SW-A7EA-01.png
exon_skip_347677_STAD_TCGA-SW-A7EA-01.png
exon_skip_349646_STAD_TCGA-SW-A7EA-01.png
exon_skip_349648_STAD_TCGA-SW-A7EA-01.png
exon_skip_349666_STAD_TCGA-SW-A7EA-01.png
exon_skip_349667_STAD_TCGA-SW-A7EA-01.png
exon_skip_368008_STAD_TCGA-SW-A7EA-01.png
exon_skip_375327_STAD_TCGA-SW-A7EA-01.png
exon_skip_442836_STAD_TCGA-SW-A7EA-01.png
exon_skip_44602_STAD_TCGA-SW-A7EA-01.png
exon_skip_498801_STAD_TCGA-SW-A7EA-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
ANGMCSS_CENTRAL_NERVOUS_SYSTEM	24622044	24622234	24622068	24622078	Frame_Shift_Del	GCCACGGCGCT	-	p.SAVA399fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24621514	24621620	24621572	24621573	Frame_Shift_Ins	-	T	p.N426fs
HEC108_ENDOMETRIUM	24620964	24621074	24621026	24621026	Missense_Mutation	C	T	p.A518T
SW579_THYROID	24620964	24621074	24621034	24621034	Missense_Mutation	G	A	p.A515V
CGTHW1_THYROID	24620964	24621074	24621034	24621034	Missense_Mutation	G	A	p.A515V
K029AX_SKIN	24621213	24621382	24621239	24621239	Missense_Mutation	C	T	p.E493K
K029AX_SKIN	24621213	24621379	24621239	24621239	Missense_Mutation	C	T	p.E493K
CORL321_PLEURA	24621213	24621382	24621250	24621250	Missense_Mutation	C	A	p.G489V
CORL321_PLEURA	24621213	24621379	24621250	24621250	Missense_Mutation	C	A	p.G489V
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24621213	24621382	24621304	24621304	Missense_Mutation	A	G	p.M471T
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24621213	24621379	24621304	24621304	Missense_Mutation	A	G	p.M471T
MEWO_SKIN	24621213	24621382	24621307	24621307	Missense_Mutation	G	A	p.S470F
MEWO_SKIN	24621213	24621379	24621307	24621307	Missense_Mutation	G	A	p.S470F
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24621213	24621382	24621325	24621325	Missense_Mutation	C	T	p.G464D
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24621213	24621379	24621325	24621325	Missense_Mutation	C	T	p.G464D
CAL78_BONE	24621514	24621620	24621537	24621537	Missense_Mutation	C	T	p.G438D
SKN_ENDOMETRIUM	24621514	24621620	24621553	24621553	Missense_Mutation	C	T	p.E433K
KYSE150_OESOPHAGUS	24622044	24622234	24622066	24622066	Missense_Mutation	C	A	p.A403S
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24622044	24622234	24622078	24622078	Missense_Mutation	T	G	p.S399R
CCK81_LARGE_INTESTINE	24622044	24622234	24622083	24622083	Missense_Mutation	T	C	p.D397G
KM12_LARGE_INTESTINE	24622044	24622234	24622108	24622108	Missense_Mutation	A	G	p.S389P
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24622044	24622234	24622125	24622125	Missense_Mutation	C	T	p.G383D
DEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24622044	24622234	24622165	24622165	Missense_Mutation	C	A	p.D370Y
NCIH889_LUNG	24622044	24622234	24622171	24622171	Missense_Mutation	G	A	p.R368W
SNU738_CENTRAL_NERVOUS_SYSTEM	24622044	24622234	24622206	24622206	Missense_Mutation	G	T	p.T356N
KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24622044	24622234	24622213	24622213	Missense_Mutation	C	A	p.G354W
DU145_PROSTATE	24622044	24622234	24622222	24622222	Missense_Mutation	C	T	p.D351N
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24628019	24628172	24628040	24628040	Missense_Mutation	C	T	p.V245M
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24628019	24628176	24628040	24628040	Missense_Mutation	C	T	p.V245M
HCT15_LARGE_INTESTINE	24628019	24628172	24628040	24628040	Missense_Mutation	C	A	p.V245L
HCT15_LARGE_INTESTINE	24628019	24628176	24628040	24628040	Missense_Mutation	C	A	p.V245L
DU145_PROSTATE	24628019	24628172	24628115	24628115	Missense_Mutation	G	T	p.L220M
DU145_PROSTATE	24628019	24628176	24628115	24628115	Missense_Mutation	G	T	p.L220M
HSC1_SKIN	24628019	24628172	24628171	24628171	Missense_Mutation	A	G	p.L201P
HSC1_SKIN	24628019	24628176	24628171	24628171	Missense_Mutation	A	G	p.L201P
SKGT4_OESOPHAGUS	24628019	24628172	24628171	24628171	Missense_Mutation	A	G	p.L201P
SKGT4_OESOPHAGUS	24628019	24628176	24628171	24628171	Missense_Mutation	A	G	p.L201P
SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24628019	24628172	24628171	24628171	Missense_Mutation	A	G	p.L201P
SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24628019	24628176	24628171	24628171	Missense_Mutation	A	G	p.L201P
C8166_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24628019	24628172	24628174	24628174	Missense_Mutation	T	G	p.Q200P
C8166_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24628019	24628176	24628174	24628174	Missense_Mutation	T	G	p.Q200P
NCIH446_LUNG	24628019	24628172	24628174	24628174	Missense_Mutation	T	G	p.Q200P
NCIH446_LUNG	24628019	24628176	24628174	24628174	Missense_Mutation	T	G	p.Q200P
RH30_SOFT_TISSUE	24628019	24628172	24628174	24628174	Missense_Mutation	T	G	p.Q200P
RH30_SOFT_TISSUE	24628019	24628176	24628174	24628174	Missense_Mutation	T	G	p.Q200P
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	24629466	24629561	24629468	24629468	Missense_Mutation	G	C	p.T133R
NCIH1304_LUNG	24629466	24629561	24629492	24629492	Missense_Mutation	C	T	p.C125Y

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GGT5

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 GGT5

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GGT5

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RelatedDrugs for GGT5

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 GGT5

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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