ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PIK3CG

Gene summary

Gene information	Gene symbol	PIK3CG
	Gene ID	5294
	Gene name	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
	Synonyms	PI3CG\|PI3K\|PI3Kgamma\|PIK3\|p110gamma\|p120-PI3K
	Cytomap	7q22.3
	Type of gene	protein-coding
	Description	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform1-phosphatidylinositol 3-kinasePI3-kinase subunit gammaphosphatidylinositol 3 kinase gamma, p110 gammaphosphatidylinositol 3-kinase catalytic 110-kD gammaphosphatidylinosit
	Modification date	20180523
	UniProtAcc	P48736
	Context	PubMed: PIK3CG [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
PIK3CG	GO:0007186	G-protein coupled receptor signaling pathway	12507995
PIK3CG	GO:0014065	phosphatidylinositol 3-kinase signaling	12507995
PIK3CG	GO:0016310	phosphorylation	25327288
PIK3CG	GO:0043406	positive regulation of MAP kinase activity	12507995
PIK3CG	GO:0051897	positive regulation of protein kinase B signaling	12507995

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Exon skipping events across known transcript of Ensembl for PIK3CG 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 PIK3CG

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 PIK3CG

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_470408	7	106505783:106505871:106507994:106510001:106512981:106513047	106507994:106510001	ENSG00000105851.6	ENST00000496166.1
exon_skip_470410	7	106512981:106513047:106513157:106513383:106515144:106515248	106513157:106513383	ENSG00000105851.6	ENST00000496166.1,ENST00000473541.1,ENST00000440650.2,ENST00000359195.3
exon_skip_470411	7	106515144:106515248:106519963:106520110:106522561:106522652	106519963:106520110	ENSG00000105851.6	ENST00000496166.1,ENST00000473541.1,ENST00000440650.2,ENST00000359195.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PIK3CG

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_470408	7	106505783:106505871:106507994:106510001:106512981:106513047	106507994:106510001	ENSG00000105851.6	ENST00000496166.1
exon_skip_470410	7	106512981:106513047:106513157:106513383:106515144:106515248	106513157:106513383	ENSG00000105851.6	ENST00000440650.2,ENST00000496166.1,ENST00000473541.1,ENST00000359195.3
exon_skip_470411	7	106515144:106515248:106519963:106520110:106522561:106522652	106519963:106520110	ENSG00000105851.6	ENST00000440650.2,ENST00000496166.1,ENST00000473541.1,ENST00000359195.3

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 PIK3CG

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
ENST00000496166	106507994	106510001	5CDS-5UTR
ENST00000359195	106513157	106513383	Frame-shift
ENST00000440650	106513157	106513383	Frame-shift
ENST00000496166	106513157	106513383	Frame-shift
ENST00000359195	106519963	106520110	In-frame
ENST00000440650	106519963	106520110	In-frame
ENST00000496166	106519963	106520110	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
ENST00000496166	106507994	106510001	5CDS-5UTR
ENST00000359195	106513157	106513383	Frame-shift
ENST00000440650	106513157	106513383	Frame-shift
ENST00000496166	106513157	106513383	Frame-shift
ENST00000359195	106519963	106520110	In-frame
ENST00000440650	106519963	106520110	In-frame
ENST00000496166	106519963	106520110	In-frame

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Infer the effects of exon skipping event on protein functional features for PIK3CG

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
ENST00000359195	5394	1102	106519963	106520110	2702	2848	797	846
ENST00000440650	3845	1102	106519963	106520110	2477	2623	797	846
ENST00000496166	5214	1102	106519963	106520110	2535	2681	797	846

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
ENST00000359195	5394	1102	106519963	106520110	2702	2848	797	846
ENST00000440650	3845	1102	106519963	106520110	2477	2623	797	846
ENST00000496166	5214	1102	106519963	106520110	2535	2681	797	846

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
P48736	797	846	806	808	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	806	808	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	806	808	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	811	818	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	811	818	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	811	818	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	828	836	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	828	836	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	828	836	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	1	1102	Chain	ID=PRO_0000088792;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit gamma isoform
P48736	797	846	1	1102	Chain	ID=PRO_0000088792;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit gamma isoform
P48736	797	846	1	1102	Chain	ID=PRO_0000088792;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit gamma isoform
P48736	797	846	828	1073	Domain	Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00269
P48736	797	846	828	1073	Domain	Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00269
P48736	797	846	828	1073	Domain	Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00269
P48736	797	846	798	800	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	798	800	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	798	800	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	838	856	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	838	856	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	838	856	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	833	833	Mutagenesis	Note=Reduced inflammatory reactions but no alterations in cardiac contractility. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15294162;Dbxref=PMID:15294162
P48736	797	846	833	833	Mutagenesis	Note=Reduced inflammatory reactions but no alterations in cardiac contractility. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15294162;Dbxref=PMID:15294162
P48736	797	846	833	833	Mutagenesis	Note=Reduced inflammatory reactions but no alterations in cardiac contractility. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15294162;Dbxref=PMID:15294162
P48736	797	846	829	838	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250
P48736	797	846	829	838	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250
P48736	797	846	829	838	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
P48736	797	846	806	808	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	806	808	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	806	808	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	811	818	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	811	818	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	811	818	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	828	836	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	828	836	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	828	836	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	1	1102	Chain	ID=PRO_0000088792;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit gamma isoform
P48736	797	846	1	1102	Chain	ID=PRO_0000088792;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit gamma isoform
P48736	797	846	1	1102	Chain	ID=PRO_0000088792;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit gamma isoform
P48736	797	846	828	1073	Domain	Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00269
P48736	797	846	828	1073	Domain	Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00269
P48736	797	846	828	1073	Domain	Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00269
P48736	797	846	798	800	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	798	800	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	798	800	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	838	856	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	838	856	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	838	856	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1E8Y
P48736	797	846	833	833	Mutagenesis	Note=Reduced inflammatory reactions but no alterations in cardiac contractility. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15294162;Dbxref=PMID:15294162
P48736	797	846	833	833	Mutagenesis	Note=Reduced inflammatory reactions but no alterations in cardiac contractility. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15294162;Dbxref=PMID:15294162
P48736	797	846	833	833	Mutagenesis	Note=Reduced inflammatory reactions but no alterations in cardiac contractility. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15294162;Dbxref=PMID:15294162
P48736	797	846	829	838	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250
P48736	797	846	829	838	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250
P48736	797	846	829	838	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250

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SNVs in the skipped exons for PIK3CG

- 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
LIHC	TCGA-G3-A3CJ-01	exon_skip_470408	106507995	106510001	106508154	106508154	Frame_Shift_Del	A	-	p.K50fs
KIRP	TCGA-IZ-A6M8-01	exon_skip_470408	106507995	106510001	106508582	106508582	Frame_Shift_Del	C	-	p.D192fs
LIHC	TCGA-DD-A39Y-01	exon_skip_470408	106507995	106510001	106508725	106508725	Frame_Shift_Del	C	-	p.T240fs
STAD	TCGA-BR-8372-01	exon_skip_470408	106507995	106510001	106508995	106508995	Frame_Shift_Del	C	-	p.T330fs
LIHC	TCGA-DD-A3A0-01	exon_skip_470408	106507995	106510001	106509064	106509064	Frame_Shift_Del	C	-	p.S353fs
LIHC	TCGA-DD-A1EG-01	exon_skip_470408	106507995	106510001	106509148	106509148	Frame_Shift_Del	T	-	p.V381fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_470408	106507995	106510001	106509148	106509148	Frame_Shift_Del	T	-	p.V381fs
LIHC	TCGA-DD-A1EG-01	exon_skip_470408	106507995	106510001	106509521	106509521	Frame_Shift_Del	A	-	p.A505fs
LUAD	TCGA-49-4506-01	exon_skip_470408	106507995	106510001	106509606	106509606	Frame_Shift_Del	C	-	p.P534fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_470410	106513158	106513383	106513161	106513161	Frame_Shift_Del	A	-	p.K689fs
LIHC	TCGA-DD-A39Y-01	exon_skip_470410	106513158	106513383	106513176	106513176	Frame_Shift_Del	T	-	p.F694fs
LIHC	TCGA-DD-A39Y-01	exon_skip_470410	106513158	106513383	106513324	106513324	Frame_Shift_Del	A	-	p.Q743fs
STAD	TCGA-BR-4368-01	exon_skip_470411	106519964	106520110	106519994	106519994	Frame_Shift_Del	A	-	p.K807fs
STAD	TCGA-CG-5721-01	exon_skip_470411	106519964	106520110	106519994	106519994	Frame_Shift_Del	A	-	p.K807fs
SKCM	TCGA-DA-A95Z-06	exon_skip_470408	106507995	106510001	106508223	106508223	Nonsense_Mutation	C	T	p.Q73*
HNSC	TCGA-CV-5441-01	exon_skip_470408	106507995	106510001	106509367	106509368	Nonsense_Mutation	CC	AA	p.S454*
UCEC	TCGA-BS-A0UF-01	exon_skip_470408	106507995	106510001	106509544	106509544	Nonsense_Mutation	C	A	p.S513*
BLCA	TCGA-E7-A3Y1-01	exon_skip_470408	106507995	106510001	106509636	106509636	Nonsense_Mutation	C	T	p.R544*
HNSC	TCGA-P3-A6SW-01	exon_skip_470408	106507995	106510001	106509636	106509636	Nonsense_Mutation	C	T	p.R544*
HNSC	TCGA-UF-A7JV-01	exon_skip_470408	106507995	106510001	106509636	106509636	Nonsense_Mutation	C	T	p.R544*
LUAD	TCGA-17-Z060-01	exon_skip_470408	106507995	106510001	106509746	106509746	Nonsense_Mutation	C	A	p.Y580*
SKCM	TCGA-FS-A4F8-06	exon_skip_470408	106507995	106510001	106509799	106509799	Nonsense_Mutation	G	A	p.W598*
SKCM	TCGA-FS-A4F8-06	exon_skip_470408	106507995	106510001	106509799	106509799	Nonsense_Mutation	G	A	p.W598X

- 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
HCC515_LUNG	106507995	106510001	106508197	106508197	Frame_Shift_Del	A	-	p.H64fs
22RV1_PROSTATE	106513158	106513383	106513176	106513176	Frame_Shift_Del	T	-	p.F694fs
HEC6_ENDOMETRIUM	106513158	106513383	106513176	106513176	Frame_Shift_Del	T	-	p.F694fs
HT115_LARGE_INTESTINE	106507995	106510001	106508018	106508018	Missense_Mutation	G	T	p.E4D
JHOS3_OVARY	106507995	106510001	106508037	106508037	Missense_Mutation	G	A	p.V11M
22RV1_PROSTATE	106507995	106510001	106508053	106508053	Missense_Mutation	A	G	p.N16S
DMS153_LUNG	106507995	106510001	106508061	106508061	Missense_Mutation	A	T	p.R19W
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106508068	106508068	Missense_Mutation	G	C	p.R21P
HEC1A_ENDOMETRIUM	106507995	106510001	106508092	106508092	Missense_Mutation	C	T	p.A29V
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106508111	106508111	Missense_Mutation	G	A	p.M35I
UACC62_SKIN	106507995	106510001	106508112	106508112	Missense_Mutation	G	A	p.E36K
IGR1_SKIN	106507995	106510001	106508121	106508121	Missense_Mutation	C	T	p.P39S
CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106508151	106508151	Missense_Mutation	C	A	p.R49S
SNGM_ENDOMETRIUM	106507995	106510001	106508200	106508200	Missense_Mutation	G	A	p.G65D
MZ2MEL_SKIN	106507995	106510001	106508200	106508200	Missense_Mutation	G	A	p.G65D
HEC108_ENDOMETRIUM	106507995	106510001	106508205	106508205	Missense_Mutation	G	A	p.V67M
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106508257	106508257	Missense_Mutation	C	T	p.A84V
SW13_ADRENAL_CORTEX	106507995	106510001	106508320	106508320	Missense_Mutation	A	T	p.Q105L
SKMEL30_SKIN	106507995	106510001	106508328	106508328	Missense_Mutation	G	A	p.E108K
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106508431	106508431	Missense_Mutation	C	T	p.P142L
MCC13_SKIN	106507995	106510001	106508446	106508446	Missense_Mutation	C	T	p.S147F
ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106508509	106508509	Missense_Mutation	T	G	p.V168G
CAL27_UPPER_AERODIGESTIVE_TRACT	106507995	106510001	106508538	106508538	Missense_Mutation	C	T	p.R178C
NCIH2110_LUNG	106507995	106510001	106508539	106508539	Missense_Mutation	G	T	p.R178L
SNU175_LARGE_INTESTINE	106507995	106510001	106508557	106508557	Missense_Mutation	G	A	p.R184H
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106508580	106508580	Missense_Mutation	G	A	p.D192N
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106508638	106508638	Missense_Mutation	T	C	p.L211P
RERFLCSQ1_LUNG	106507995	106510001	106508666	106508666	Missense_Mutation	C	G	p.I220M
SNU349_KIDNEY	106507995	106510001	106508733	106508733	Missense_Mutation	G	A	p.A243T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106508733	106508733	Missense_Mutation	G	A	p.A243T
SNU1040_LARGE_INTESTINE	106507995	106510001	106508733	106508733	Missense_Mutation	G	A	p.A243T
SW48_LARGE_INTESTINE	106507995	106510001	106508763	106508763	Missense_Mutation	G	A	p.A253T
DMS273_LUNG	106507995	106510001	106508783	106508783	Missense_Mutation	G	T	p.M259I
HCC2998_LARGE_INTESTINE	106507995	106510001	106508824	106508824	Missense_Mutation	G	A	p.R273H
GB1_CENTRAL_NERVOUS_SYSTEM	106507995	106510001	106508832	106508832	Missense_Mutation	G	A	p.G276S
SNU738_CENTRAL_NERVOUS_SYSTEM	106507995	106510001	106508850	106508850	Missense_Mutation	G	T	p.V282L
MDAMB361_BREAST	106507995	106510001	106508867	106508867	Missense_Mutation	C	G	p.I287M
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106508919	106508919	Missense_Mutation	G	A	p.V305M
OC316_OVARY	106507995	106510001	106508932	106508932	Missense_Mutation	C	T	p.T309M
OC314_OVARY	106507995	106510001	106508932	106508932	Missense_Mutation	C	T	p.T309M
SKMEL2_SKIN	106507995	106510001	106508946	106508946	Missense_Mutation	G	A	p.A314T
SNU1040_LARGE_INTESTINE	106507995	106510001	106508976	106508976	Missense_Mutation	C	T	p.P324S
NCIH345_LUNG	106507995	106510001	106509001	106509001	Missense_Mutation	T	A	p.V332D
LS411N_LARGE_INTESTINE	106507995	106510001	106509033	106509033	Missense_Mutation	G	A	p.G343S
SNU1040_LARGE_INTESTINE	106507995	106510001	106509045	106509045	Missense_Mutation	G	A	p.E347K
SNU81_LARGE_INTESTINE	106507995	106510001	106509054	106509054	Missense_Mutation	T	C	p.F350L
A431_SKIN	106507995	106510001	106509078	106509078	Missense_Mutation	G	T	p.D358Y
HEC251_ENDOMETRIUM	106507995	106510001	106509078	106509078	Missense_Mutation	G	A	p.D358N
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106509078	106509078	Missense_Mutation	G	T	p.D358Y
SW684_SOFT_TISSUE	106507995	106510001	106509091	106509091	Missense_Mutation	G	A	p.R362K
DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106509092	106509092	Missense_Mutation	G	T	p.R362S
SNU899_UPPER_AERODIGESTIVE_TRACT	106507995	106510001	106509102	106509102	Missense_Mutation	A	G	p.R366G
EVSAT_BREAST	106507995	106510001	106509147	106509147	Missense_Mutation	G	A	p.V381I
JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106509163	106509163	Missense_Mutation	A	G	p.N386S
HEC108_ENDOMETRIUM	106507995	106510001	106509246	106509246	Missense_Mutation	C	T	p.L414F
FTC238_THYROID	106507995	106510001	106509283	106509283	Missense_Mutation	G	A	p.G426E
NCIH1770_LUNG	106507995	106510001	106509283	106509283	Missense_Mutation	G	A	p.G426E
NCIH2106_LUNG	106507995	106510001	106509283	106509283	Missense_Mutation	G	A	p.G426E
KATOIII_STOMACH	106507995	106510001	106509312	106509312	Missense_Mutation	G	A	p.G436S
HCC2998_LARGE_INTESTINE	106507995	106510001	106509402	106509402	Missense_Mutation	C	A	p.L466M
NCIH1648_LUNG	106507995	106510001	106509421	106509421	Missense_Mutation	G	C	p.R472P
SNUC4_LARGE_INTESTINE	106507995	106510001	106509432	106509432	Missense_Mutation	C	T	p.R476C
NCIH1770_LUNG	106507995	106510001	106509537	106509537	Missense_Mutation	G	A	p.E511K
NCIH2106_LUNG	106507995	106510001	106509537	106509537	Missense_Mutation	G	A	p.E511K
SNU175_LARGE_INTESTINE	106507995	106510001	106509549	106509549	Missense_Mutation	T	C	p.S515P
GP2D_LARGE_INTESTINE	106507995	106510001	106509589	106509589	Missense_Mutation	C	T	p.A528V
GP5D_LARGE_INTESTINE	106507995	106510001	106509589	106509589	Missense_Mutation	C	T	p.A528V
OC316_OVARY	106507995	106510001	106509630	106509630	Missense_Mutation	C	T	p.R542W
OC314_OVARY	106507995	106510001	106509630	106509630	Missense_Mutation	C	T	p.R542W
JHUEM7_ENDOMETRIUM	106507995	106510001	106509637	106509637	Missense_Mutation	G	A	p.R544Q
CL34_LARGE_INTESTINE	106507995	106510001	106509676	106509676	Missense_Mutation	C	T	p.A557V
NCIH526_LUNG	106507995	106510001	106509693	106509693	Missense_Mutation	C	A	p.P563T
GCT_SOFT_TISSUE	106507995	106510001	106509711	106509711	Missense_Mutation	G	A	p.A569T
SNU899_UPPER_AERODIGESTIVE_TRACT	106507995	106510001	106509735	106509735	Missense_Mutation	C	T	p.H577Y
SNU81_LARGE_INTESTINE	106507995	106510001	106509765	106509765	Missense_Mutation	A	C	p.K587Q
MKN74_STOMACH	106507995	106510001	106509867	106509867	Missense_Mutation	G	T	p.A621S
MKN28_STOMACH	106507995	106510001	106509867	106509867	Missense_Mutation	G	T	p.A621S
NCIH64_LUNG	106507995	106510001	106509886	106509886	Missense_Mutation	C	T	p.T627I
RERFLCFM_LUNG	106507995	106510001	106509907	106509907	Missense_Mutation	A	C	p.N634T
NCIH2170_LUNG	106513158	106513383	106513175	106513175	Missense_Mutation	C	G	p.H693Q
COGAR359_SOFT_TISSUE	106513158	106513383	106513181	106513181	Missense_Mutation	G	T	p.L695F
D341MED_CENTRAL_NERVOUS_SYSTEM	106513158	106513383	106513181	106513181	Missense_Mutation	G	T	p.L695F
CHLA266_SOFT_TISSUE	106513158	106513383	106513186	106513186	Missense_Mutation	G	T	p.W697L
COGAR359_SOFT_TISSUE	106513158	106513383	106513186	106513186	Missense_Mutation	G	T	p.W697L
SNU1040_LARGE_INTESTINE	106513158	106513383	106513190	106513190	Missense_Mutation	C	A	p.F698L
DMS153_LUNG	106513158	106513383	106513204	106513204	Missense_Mutation	T	A	p.I703K
PACADD119_PANCREAS	106513158	106513383	106513371	106513371	Missense_Mutation	G	A	p.V759I
NCIH1963_LUNG	106519964	106520110	106519989	106519989	Missense_Mutation	C	T	p.S806F
CAPAN1_PANCREAS	106519964	106520110	106520052	106520052	Missense_Mutation	C	G	p.T827R
PL4_PANCREAS	106519964	106520110	106520087	106520087	Missense_Mutation	C	T	p.R839C
CA922_UPPER_AERODIGESTIVE_TRACT	106507995	106510001	106508046	106508046	Nonsense_Mutation	G	T	p.E14*
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106508148	106508148	Nonsense_Mutation	C	T	p.Q48*
TOV21G_OVARY	106507995	106510001	106508742	106508742	Nonsense_Mutation	C	T	p.Q246*
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	106507995	106510001	106509636	106509636	Nonsense_Mutation	C	T	p.R544*
SNU81_LARGE_INTESTINE	106507995	106510001	106509723	106509723	Nonsense_Mutation	G	T	p.E573*
KE39_STOMACH	106507995	106510001	106509830	106509830	Nonsense_Mutation	C	A	p.Y608*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIK3CG

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 PIK3CG

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIK3CG

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RelatedDrugs for PIK3CG

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
	P48736	DB12010	Fostamatinib	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	small molecule	approved\|investigational

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RelatedDiseases for PIK3CG

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PIK3CG	C0004352	Autistic Disorder	1	CTD_human
PIK3CG	C0016059	Fibrosis	1	CTD_human
PIK3CG	C0018800	Cardiomegaly	1	CTD_human
PIK3CG	C0018801	Heart failure	1	CTD_human
PIK3CG	C0025149	Medulloblastoma	1	CTD_human
PIK3CG	C0079744	Diffuse Large B-Cell Lymphoma	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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