ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PIK3R3

Gene summary

Gene information	Gene symbol	PIK3R3
	Gene ID	8503
	Gene name	phosphoinositide-3-kinase regulatory subunit 3
	Synonyms	p55\|p55-GAMMA\|p55PIK
	Cytomap	1p34.1
	Type of gene	protein-coding
	Description	phosphatidylinositol 3-kinase regulatory subunit gammaPI3-kinase regulatory subunit gammaPI3-kinase subunit p55-gammaPI3K regulatory subunit gammaphosphatidylinositol 3-kinase 55 kDa regulatory subunit gammaphosphatidylinositol 3-kinase, regulatory s
	Modification date	20180523
	UniProtAcc	Q92569
	Context	PubMed: PIK3R3 [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 PIK3R3 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 PIK3R3

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 PIK3R3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_26300	1	46509333:46509543:46511589:46511760:46512222:46512297	46511589:46511760	ENSG00000117461.10	ENST00000262741.5,ENST00000354242.4,ENST00000488808.1,ENST00000540385.1,ENST00000372006.1,ENST00000340332.6,ENST00000420542.1,ENST00000423209.1
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENSG00000117461.10	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1
exon_skip_26305	1	46531727:46531851:46532582:46532763:46543186:46543281	46532582:46532763	ENSG00000117461.10	ENST00000493202.1,ENST00000262741.5,ENST00000354242.4,ENST00000540385.1,ENST00000372006.1,ENST00000340332.6,ENST00000425892.1,ENST00000420542.1,ENST00000423209.1
exon_skip_26307	1	46543186:46543285:46546313:46546422:46597518:46597628	46546313:46546422	ENSG00000117461.10	ENST00000354242.4,ENST00000372006.1,ENST00000425892.1,ENST00000420542.1,ENST00000423209.1
exon_skip_26311	1	46546313:46546422:46597518:46597628:46598455:46598583	46597518:46597628	ENSG00000117461.10	ENST00000354242.4,ENST00000425892.1,ENST00000420542.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PIK3R3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_26300	1	46509333:46509543:46511589:46511760:46512222:46512297	46511589:46511760	ENSG00000117461.10	ENST00000262741.5,ENST00000372006.1,ENST00000420542.1,ENST00000354242.4,ENST00000340332.6,ENST00000488808.1,ENST00000540385.1,ENST00000423209.1
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENSG00000117461.10	ENST00000262741.5,ENST00000372006.1,ENST00000420542.1,ENST00000540385.1
exon_skip_26305	1	46531727:46531851:46532582:46532763:46543186:46543281	46532582:46532763	ENSG00000117461.10	ENST00000262741.5,ENST00000372006.1,ENST00000420542.1,ENST00000354242.4,ENST00000340332.6,ENST00000540385.1,ENST00000423209.1,ENST00000493202.1,ENST00000425892.1
exon_skip_26307	1	46543186:46543285:46546313:46546422:46597518:46597628	46546313:46546422	ENSG00000117461.10	ENST00000372006.1,ENST00000420542.1,ENST00000354242.4,ENST00000423209.1,ENST00000425892.1
exon_skip_26311	1	46546313:46546422:46597518:46597628:46598455:46598583	46597518:46597628	ENSG00000117461.10	ENST00000420542.1,ENST00000354242.4,ENST00000425892.1

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 PIK3R3

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
ENST00000420542	46597518	46597628	3UTR-3CDS
ENST00000262741	46532582	46532763	Frame-shift
ENST00000372006	46532582	46532763	Frame-shift
ENST00000420542	46532582	46532763	Frame-shift
ENST00000372006	46546313	46546422	Frame-shift
ENST00000420542	46546313	46546422	Frame-shift
ENST00000262741	46511589	46511760	In-frame
ENST00000372006	46511589	46511760	In-frame
ENST00000420542	46511589	46511760	In-frame
ENST00000262741	46521466	46521643	In-frame
ENST00000372006	46521466	46521643	In-frame
ENST00000420542	46521466	46521643	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
ENST00000420542	46597518	46597628	3UTR-3CDS
ENST00000262741	46532582	46532763	Frame-shift
ENST00000372006	46532582	46532763	Frame-shift
ENST00000420542	46532582	46532763	Frame-shift
ENST00000372006	46546313	46546422	Frame-shift
ENST00000420542	46546313	46546422	Frame-shift
ENST00000262741	46511589	46511760	In-frame
ENST00000372006	46511589	46511760	In-frame
ENST00000420542	46511589	46511760	In-frame
ENST00000262741	46521466	46521643	In-frame
ENST00000372006	46521466	46521643	In-frame
ENST00000420542	46521466	46521643	In-frame

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Infer the effects of exon skipping event on protein functional features for PIK3R3

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
ENST00000262741	5626	461	46521466	46521643	1455	1631	255	313
ENST00000372006	5036	461	46521466	46521643	865	1041	255	313
ENST00000420542	5191	461	46521466	46521643	1022	1198	255	313
ENST00000262741	5626	461	46511589	46511760	1707	1877	339	395
ENST00000372006	5036	461	46511589	46511760	1117	1287	339	395
ENST00000420542	5191	461	46511589	46511760	1274	1444	339	395

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
ENST00000262741	5626	461	46521466	46521643	1455	1631	255	313
ENST00000372006	5036	461	46521466	46521643	865	1041	255	313
ENST00000420542	5191	461	46521466	46521643	1022	1198	255	313
ENST00000262741	5626	461	46511589	46511760	1707	1877	339	395
ENST00000372006	5036	461	46511589	46511760	1117	1287	339	395
ENST00000420542	5191	461	46511589	46511760	1274	1444	339	395

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
Q92569	255	313	256	314	Alternative sequence	ID=VSP_004714;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9524259;Dbxref=PMID:9524259
Q92569	255	313	256	314	Alternative sequence	ID=VSP_004714;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9524259;Dbxref=PMID:9524259
Q92569	255	313	256	314	Alternative sequence	ID=VSP_004714;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9524259;Dbxref=PMID:9524259
Q92569	255	313	1	461	Chain	ID=PRO_0000080767;Note=Phosphatidylinositol 3-kinase regulatory subunit gamma
Q92569	255	313	1	461	Chain	ID=PRO_0000080767;Note=Phosphatidylinositol 3-kinase regulatory subunit gamma
Q92569	255	313	1	461	Chain	ID=PRO_0000080767;Note=Phosphatidylinositol 3-kinase regulatory subunit gamma
Q92569	255	313	283	283	Natural variant	ID=VAR_047153;Note=N->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:9524259,ECO:0000269\|Ref.2,ECO:0000269\|Ref.5;Dbxref=dbSNP:rs785467,PMID:14702039,PMID:9524259
Q92569	255	313	283	283	Natural variant	ID=VAR_047153;Note=N->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:9524259,ECO:0000269\|Ref.2,ECO:0000269\|Ref.5;Dbxref=dbSNP:rs785467,PMID:14702039,PMID:9524259
Q92569	255	313	283	283	Natural variant	ID=VAR_047153;Note=N->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:9524259,ECO:0000269\|Ref.2,ECO:0000269\|Ref.5;Dbxref=dbSNP:rs785467,PMID:14702039,PMID:9524259
Q92569	339	395	1	461	Chain	ID=PRO_0000080767;Note=Phosphatidylinositol 3-kinase regulatory subunit gamma
Q92569	339	395	1	461	Chain	ID=PRO_0000080767;Note=Phosphatidylinositol 3-kinase regulatory subunit gamma
Q92569	339	395	1	461	Chain	ID=PRO_0000080767;Note=Phosphatidylinositol 3-kinase regulatory subunit gamma
Q92569	339	395	358	452	Domain	Note=SH2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
Q92569	339	395	358	452	Domain	Note=SH2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
Q92569	339	395	358	452	Domain	Note=SH2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
Q92569	339	395	341	341	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q64143
Q92569	339	395	341	341	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q64143
Q92569	339	395	341	341	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q64143

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
Q92569	255	313	256	314	Alternative sequence	ID=VSP_004714;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9524259;Dbxref=PMID:9524259
Q92569	255	313	256	314	Alternative sequence	ID=VSP_004714;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9524259;Dbxref=PMID:9524259
Q92569	255	313	256	314	Alternative sequence	ID=VSP_004714;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9524259;Dbxref=PMID:9524259
Q92569	255	313	1	461	Chain	ID=PRO_0000080767;Note=Phosphatidylinositol 3-kinase regulatory subunit gamma
Q92569	255	313	1	461	Chain	ID=PRO_0000080767;Note=Phosphatidylinositol 3-kinase regulatory subunit gamma
Q92569	255	313	1	461	Chain	ID=PRO_0000080767;Note=Phosphatidylinositol 3-kinase regulatory subunit gamma
Q92569	255	313	283	283	Natural variant	ID=VAR_047153;Note=N->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:9524259,ECO:0000269\|Ref.2,ECO:0000269\|Ref.5;Dbxref=dbSNP:rs785467,PMID:14702039,PMID:9524259
Q92569	255	313	283	283	Natural variant	ID=VAR_047153;Note=N->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:9524259,ECO:0000269\|Ref.2,ECO:0000269\|Ref.5;Dbxref=dbSNP:rs785467,PMID:14702039,PMID:9524259
Q92569	255	313	283	283	Natural variant	ID=VAR_047153;Note=N->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:9524259,ECO:0000269\|Ref.2,ECO:0000269\|Ref.5;Dbxref=dbSNP:rs785467,PMID:14702039,PMID:9524259
Q92569	339	395	1	461	Chain	ID=PRO_0000080767;Note=Phosphatidylinositol 3-kinase regulatory subunit gamma
Q92569	339	395	1	461	Chain	ID=PRO_0000080767;Note=Phosphatidylinositol 3-kinase regulatory subunit gamma
Q92569	339	395	1	461	Chain	ID=PRO_0000080767;Note=Phosphatidylinositol 3-kinase regulatory subunit gamma
Q92569	339	395	358	452	Domain	Note=SH2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
Q92569	339	395	358	452	Domain	Note=SH2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
Q92569	339	395	358	452	Domain	Note=SH2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
Q92569	339	395	341	341	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q64143
Q92569	339	395	341	341	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q64143
Q92569	339	395	341	341	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q64143

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SNVs in the skipped exons for PIK3R3

- 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.

PIK3R3_LUSC_exon_skip_26303_psi_boxplot.png
boxplot

PIK3R3_STAD_exon_skip_26303_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
STAD	TCGA-HJ-7597-01	exon_skip_26300	46511590	46511760	46511600	46511600	Frame_Shift_Del	A	-	p.C393fs
LIHC	TCGA-DD-A1EG-01	exon_skip_26300	46511590	46511760	46511613	46511613	Frame_Shift_Del	T	-	p.K388fs
LIHC	TCGA-DD-A1EG-01	exon_skip_26300	46511590	46511760	46511703	46511703	Frame_Shift_Del	C	-	p.W358fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_26300	46511590	46511760	46511708	46511708	Frame_Shift_Del	T	-	p.T357fs
STAD	TCGA-BR-4256-01	exon_skip_26303	46521467	46521643	46521525	46521525	Frame_Shift_Del	T	-	p.M295fs
STAD	TCGA-BR-4256-01	exon_skip_26303	46521467	46521643	46521525	46521525	Frame_Shift_Del	T	-	p.M341fs
STAD	TCGA-BR-8591-01	exon_skip_26303	46521467	46521643	46521525	46521525	Frame_Shift_Del	T	-	p.M295fs
STAD	TCGA-HU-A4G8-01	exon_skip_26303	46521467	46521643	46521525	46521525	Frame_Shift_Del	T	-	p.M295fs
STAD	TCGA-HU-A4G8-01	exon_skip_26303	46521467	46521643	46521525	46521525	Frame_Shift_Del	T	-	p.M341fs
UCEC	TCGA-AX-A060-01	exon_skip_26303	46521467	46521643	46521525	46521525	Frame_Shift_Del	T	-	p.M341fs
UCEC	TCGA-D1-A17U-01	exon_skip_26303	46521467	46521643	46521525	46521525	Frame_Shift_Del	T	-	p.M341fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_26303	46521467	46521643	46521585	46521585	Frame_Shift_Del	T	-	p.M275fs
KIRP	TCGA-F9-A97G-01	exon_skip_26305	46532583	46532763	46532743	46532743	Frame_Shift_Del	A	-	p.L112fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_26305	46532583	46532763	46532743	46532743	Frame_Shift_Del	A	-	p.L112fs
LIHC	TCGA-DD-A3A0-01	exon_skip_26307	46546314	46546422	46546324	46546324	Frame_Shift_Del	C	-	p.D69fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_26307	46546314	46546422	46546407	46546407	Frame_Shift_Del	G	-	p.P42fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_26307	46546314	46546422	46546410	46546410	Frame_Shift_Del	T	-	p.K40fs
LUAD	TCGA-44-2656-01	exon_skip_26307	46546314	46546422	46546323	46546324	Frame_Shift_Ins	-	C	p.D69fs
LGG	TCGA-DU-7006-01	exon_skip_26311	46597519	46597628	46597617	46597618	Frame_Shift_Ins	-	TGTA	p.-3fs
LGG	TCGA-DU-7006-01	exon_skip_26311	46597519	46597628	46597617	46597618	Frame_Shift_Ins	-	TGTA	p.N3fs
LUSC	TCGA-22-4613-01	exon_skip_26303	46521467	46521643	46521483	46521483	Nonsense_Mutation	G	A	p.R355*
UCEC	TCGA-D1-A16X-01	exon_skip_26311	46597519	46597628	46597552	46597552	Nonsense_Mutation	C	A	p.E25*
ESCA	TCGA-R6-A6L6-01	exon_skip_26300	46511590	46511760	46511589	46511589	Splice_Site	C	A	e9+1
UCEC	TCGA-AX-A0J0-01	exon_skip_26303	46521467	46521643	46521644	46521644	Splice_Site	C	A	e7-1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-AX-A0J0-01
	Cancer type: UCEC
	ESID: exon_skip_26303
	Skipped exon start: 46521467
	Skipped exon end: 46521643
	Mutation start: 46521644
	Mutation end: 46521644
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: A
	AAchange: e7-1
exon_skip_114672_UCEC_TCGA-AX-A0J0-01.png
exon_skip_145114_UCEC_TCGA-AX-A0J0-01.png
exon_skip_148176_UCEC_TCGA-AX-A0J0-01.png
exon_skip_148178_UCEC_TCGA-AX-A0J0-01.png
exon_skip_26303_UCEC_TCGA-AX-A0J0-01.png
exon_skip_316320_UCEC_TCGA-AX-A0J0-01.png
exon_skip_366628_UCEC_TCGA-AX-A0J0-01.png
exon_skip_422781_UCEC_TCGA-AX-A0J0-01.png
exon_skip_440271_UCEC_TCGA-AX-A0J0-01.png
exon_skip_47562_UCEC_TCGA-AX-A0J0-01.png
exon_skip_500520_UCEC_TCGA-AX-A0J0-01.png
exon_skip_60290_UCEC_TCGA-AX-A0J0-01.png
exon_skip_60294_UCEC_TCGA-AX-A0J0-01.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
GP2D_LARGE_INTESTINE	46521467	46521643	46521525	46521525	Frame_Shift_Del	T	-	p.M295fs
GP5D_LARGE_INTESTINE	46521467	46521643	46521525	46521525	Frame_Shift_Del	T	-	p.M295fs
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46521467	46521643	46521525	46521525	Frame_Shift_Del	T	-	p.M295fs
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46521467	46521643	46521525	46521525	Frame_Shift_Del	T	-	p.M295fs
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46546314	46546422	46546324	46546324	Frame_Shift_Del	C	-	p.D69fs
SNU1040_LARGE_INTESTINE	46521467	46521643	46521524	46521525	Frame_Shift_Ins	-	T	p.M295fs
SNU1040_LARGE_INTESTINE	46511590	46511760	46511629	46511629	Missense_Mutation	C	T	p.R383H
CL40_LARGE_INTESTINE	46511590	46511760	46511642	46511642	Missense_Mutation	C	T	p.A379T
CAS1_CENTRAL_NERVOUS_SYSTEM	46511590	46511760	46511647	46511647	Missense_Mutation	T	A	p.D377V
NCIH661_LUNG	46511590	46511760	46511726	46511726	Missense_Mutation	G	C	p.P351A
HCT15_LARGE_INTESTINE	46521467	46521643	46521609	46521609	Missense_Mutation	G	T	p.L267M
EVSAT_BREAST	46532583	46532763	46532605	46532605	Missense_Mutation	T	C	p.Y158C
SNU1040_LARGE_INTESTINE	46532583	46532763	46532617	46532617	Missense_Mutation	A	G	p.V154A
OVK18_OVARY	46532583	46532763	46532698	46532698	Missense_Mutation	G	T	p.P127H
KMBC2_URINARY_TRACT	46546314	46546422	46546359	46546359	Missense_Mutation	G	C	p.S57C
8MGBA_CENTRAL_NERVOUS_SYSTEM	46597519	46597628	46597581	46597581	Missense_Mutation	C	A	p.W15L
GCT_SOFT_TISSUE	46597519	46597628	46597605	46597605	Missense_Mutation	C	T	p.S7N
SISO_CERVIX	46511590	46511760	46511684	46511684	Nonsense_Mutation	G	A	p.R365*
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46511590	46511760	46511684	46511684	Nonsense_Mutation	G	A	p.R365*
HEC151_ENDOMETRIUM	46511590	46511760	46511759	46511759	Splice_Site	T	A	p.N340Y
RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	46532583	46532763	46532763	46532763	Splice_Site	C	T	p.R105R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIK3R3

sQTL information located at the skipped exons.

Exon skip ID	Chromosome	Three exons	Skippped exon	ENST	Cancer type	SNP id	Location	DNA change (ref/var)	P-value
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	BLCA	rs785467	chr1:46521559	A/T	8.50e-05
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	BLCA	rs785468	chr1:46521517	G/A	1.18e-04
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	ESCA	rs785467	chr1:46521559	A/T	5.20e-04
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	ESCA	rs785468	chr1:46521517	G/A	5.44e-04
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	HNSC	rs785468	chr1:46521517	G/A	2.48e-03
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	HNSC	rs785467	chr1:46521559	A/T	2.87e-03
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	BRCA	rs785468	chr1:46521517	G/A	8.88e-12
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	BRCA	rs785467	chr1:46521559	A/T	2.49e-10
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	LGG	rs785468	chr1:46521517	G/A	8.67e-04
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	LGG	rs785467	chr1:46521559	A/T	1.34e-03
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	KIRC	rs785468	chr1:46521517	G/A	4.25e-04
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	KIRC	rs785467	chr1:46521559	A/T	9.47e-04
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	LUAD	rs785468	chr1:46521517	G/A	1.46e-03
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	OV	rs785468	chr1:46521517	G/A	1.12e-06
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	OV	rs785467	chr1:46521559	A/T	1.33e-06
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	PRAD	rs785468	chr1:46521517	G/A	1.80e-04
exon_skip_26303	1	46512222:46512297:46521466:46521643:46527600:46527743	46521466:46521643	ENST00000262741.5,ENST00000540385.1,ENST00000372006.1,ENST00000420542.1	PRAD	rs785467	chr1:46521559	A/T	7.51e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIK3R3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIK3R3

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RelatedDrugs for PIK3R3

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
	Q92569	DB01064	Isoprenaline	Phosphatidylinositol 3-kinase regulatory subunit gamma	small molecule	approved\|investigational

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RelatedDiseases for PIK3R3

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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