ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PI4KB

Gene summary

Gene information	Gene symbol	PI4KB
	Gene ID	5298
	Gene name	phosphatidylinositol 4-kinase beta
	Synonyms	NPIK\|PI4K-BETA\|PI4K92\|PI4KBETA\|PI4KIIIBETA\|PIK4CB
	Cytomap	1q21.3
	Type of gene	protein-coding
	Description	phosphatidylinositol 4-kinase betaPtdIns 4-kinase betaphosphatidylinositol 4-kinase, catalytic, betaphosphatidylinositol 4-kinase, wortmannin-sensitivetype III phosphatidylinositol 4-kinase beta
	Modification date	20180523
	UniProtAcc	Q9UBF8
	Context	PubMed: PI4KB [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 PI4KB 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 PI4KB

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 PI4KB

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_30657	1	151265098:151265509:151265875:151265938:151266493:151266614	151265875:151265938	ENSG00000143393.12	ENST00000455060.1
exon_skip_30663	1	151266524:151266614:151266884:151267017:151271283:151271390	151266884:151267017	ENSG00000143393.12	ENST00000368874.4,ENST00000368875.2,ENST00000455060.1,ENST00000489889.2,ENST00000271657.5,ENST00000529142.1,ENST00000368873.1,ENST00000368872.1
exon_skip_30673	1	151266884:151267017:151271283:151271549:151274319:151274342	151271283:151271549	ENSG00000143393.12	ENST00000368874.4,ENST00000368875.2,ENST00000271657.5,ENST00000529142.1,ENST00000368873.1,ENST00000368872.1
exon_skip_30676	1	151274319:151274443:151274669:151274774:151276016:151276126	151274669:151274774	ENSG00000143393.12	ENST00000368874.4,ENST00000368875.2,ENST00000271657.5,ENST00000529142.1,ENST00000368873.1,ENST00000368872.1
exon_skip_30678	1	151276016:151276126:151278611:151278839:151280049:151280277	151278611:151278839	ENSG00000143393.12	ENST00000368874.4,ENST00000368875.2,ENST00000271657.5,ENST00000529142.1,ENST00000368873.1,ENST00000368872.1,ENST00000430800.1
exon_skip_30679	1	151278739:151278839:151280049:151280277:151288048:151288148	151280049:151280277	ENSG00000143393.12	ENST00000368874.4,ENST00000489223.2,ENST00000368872.1
exon_skip_30682	1	151280049:151280277:151282686:151282731:151288048:151288148	151282686:151282731	ENSG00000143393.12	ENST00000368875.2,ENST00000271657.5,ENST00000368873.1
exon_skip_30686	1	151280049:151280277:151288048:151288148:151299746:151299853	151288048:151288148	ENSG00000143393.12	ENST00000489223.2
exon_skip_30687	1	151280049:151280277:151288048:151288985:151297220:151297393	151288048:151288985	ENSG00000143393.12	ENST00000368872.1
exon_skip_30693	1	151280049:151280277:151298647:151298849:151299746:151299853	151298647:151298849	ENSG00000143393.12	ENST00000430800.1
exon_skip_30696	1	151282686:151282731:151288048:151288985:151298647:151298724	151288048:151288985	ENSG00000143393.12	ENST00000368875.2,ENST00000271657.5
exon_skip_30699	1	151288115:151288985:151297220:151297393:151298647:151298724	151297220:151297393	ENSG00000143393.12	ENST00000368872.1
exon_skip_30700	1	151288115:151288985:151297220:151297393:151299746:151299853	151297220:151297393	ENSG00000143393.12	ENST00000438243.2
exon_skip_30702	1	151288115:151288985:151298647:151298849:151299746:151299853	151298647:151298849	ENSG00000143393.12	ENST00000368875.2
exon_skip_30704	1	151297220:151297393:151298647:151298849:151299746:151299853	151298647:151298849	ENSG00000143393.12	ENST00000368872.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PI4KB

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_30657	1	151265098:151265509:151265875:151265938:151266493:151266614	151265875:151265938	ENSG00000143393.12	ENST00000455060.1
exon_skip_30663	1	151266524:151266614:151266884:151267017:151271283:151271390	151266884:151267017	ENSG00000143393.12	ENST00000368874.4,ENST00000368875.2,ENST00000271657.5,ENST00000368873.1,ENST00000529142.1,ENST00000368872.1,ENST00000455060.1,ENST00000489889.2
exon_skip_30673	1	151266884:151267017:151271283:151271549:151274319:151274342	151271283:151271549	ENSG00000143393.12	ENST00000368874.4,ENST00000368875.2,ENST00000271657.5,ENST00000368873.1,ENST00000529142.1,ENST00000368872.1
exon_skip_30676	1	151274319:151274443:151274669:151274774:151276016:151276126	151274669:151274774	ENSG00000143393.12	ENST00000368874.4,ENST00000368875.2,ENST00000271657.5,ENST00000368873.1,ENST00000529142.1,ENST00000368872.1
exon_skip_30678	1	151276016:151276126:151278611:151278839:151280049:151280277	151278611:151278839	ENSG00000143393.12	ENST00000368874.4,ENST00000368875.2,ENST00000271657.5,ENST00000368873.1,ENST00000529142.1,ENST00000368872.1,ENST00000430800.1
exon_skip_30679	1	151278739:151278839:151280049:151280277:151288048:151288148	151280049:151280277	ENSG00000143393.12	ENST00000368874.4,ENST00000368872.1,ENST00000489223.2
exon_skip_30682	1	151280049:151280277:151282686:151282731:151288048:151288148	151282686:151282731	ENSG00000143393.12	ENST00000368875.2,ENST00000271657.5,ENST00000368873.1
exon_skip_30686	1	151280049:151280277:151288048:151288148:151299746:151299853	151288048:151288148	ENSG00000143393.12	ENST00000489223.2
exon_skip_30687	1	151280049:151280277:151288048:151288985:151297220:151297393	151288048:151288985	ENSG00000143393.12	ENST00000368872.1
exon_skip_30693	1	151280049:151280277:151298647:151298849:151299746:151299853	151298647:151298849	ENSG00000143393.12	ENST00000430800.1
exon_skip_30696	1	151282686:151282731:151288048:151288985:151298647:151298724	151288048:151288985	ENSG00000143393.12	ENST00000368875.2,ENST00000271657.5
exon_skip_30699	1	151288115:151288985:151297220:151297393:151298647:151298724	151297220:151297393	ENSG00000143393.12	ENST00000368872.1
exon_skip_30700	1	151288115:151288985:151297220:151297393:151299746:151299853	151297220:151297393	ENSG00000143393.12	ENST00000438243.2
exon_skip_30702	1	151288115:151288985:151298647:151298849:151299746:151299853	151298647:151298849	ENSG00000143393.12	ENST00000368875.2
exon_skip_30704	1	151297220:151297393:151298647:151298849:151299746:151299853	151298647:151298849	ENSG00000143393.12	ENST00000368872.1

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 PI4KB

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
ENST00000368873	151266884	151267017	Frame-shift
ENST00000368873	151271283	151271549	Frame-shift
ENST00000368873	151274669	151274774	In-frame
ENST00000368873	151278611	151278839	In-frame
ENST00000368873	151282686	151282731	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
ENST00000368873	151266884	151267017	Frame-shift
ENST00000368873	151271283	151271549	Frame-shift
ENST00000368873	151274669	151274774	In-frame
ENST00000368873	151278611	151278839	In-frame
ENST00000368873	151282686	151282731	In-frame

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Infer the effects of exon skipping event on protein functional features for PI4KB

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
ENST00000368873	3357	816	151282686	151282731	1079	1123	303	318
ENST00000368873	3357	816	151278611	151278839	1352	1579	394	470
ENST00000368873	3357	816	151274669	151274774	1690	1794	507	541

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
ENST00000368873	3357	816	151282686	151282731	1079	1123	303	318
ENST00000368873	3357	816	151278611	151278839	1352	1579	394	470
ENST00000368873	3357	816	151274669	151274774	1690	1794	507	541

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
Q9UBF8	303	318	1	332	Alternative sequence	ID=VSP_037133;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9UBF8	303	318	304	318	Alternative sequence	ID=VSP_050627;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9020160,ECO:0000303\|PubMed:9405935;Dbxref=PMID:15489334,PMID:9020160,PMID:9405935
Q9UBF8	303	318	2	816	Chain	ID=PRO_0000088829;Note=Phosphatidylinositol 4-kinase beta
Q9UBF8	394	470	392	394	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WAE
Q9UBF8	394	470	397	405	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C46
Q9UBF8	394	470	2	816	Chain	ID=PRO_0000088829;Note=Phosphatidylinositol 4-kinase beta
Q9UBF8	394	470	428	428	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,E
Q9UBF8	394	470	438	438	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11277933;Dbxref=PMID:11277933
Q9UBF8	394	470	446	446	Sequence conflict	Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UBF8	394	470	409	411	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C46
Q9UBF8	507	541	2	816	Chain	ID=PRO_0000088829;Note=Phosphatidylinositol 4-kinase beta
Q9UBF8	507	541	537	546	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C46
Q9UBF8	507	541	511	511	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163,ECO:0000269\|PubMed:11277933;Dbxref=PMID:18220336,PMID:18669648,PMID:23186163,PMID
Q9UBF8	507	541	517	517	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9UBF8	507	541	519	519	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11277933;Dbxref=PMID:11277933

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
Q9UBF8	303	318	1	332	Alternative sequence	ID=VSP_037133;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9UBF8	303	318	304	318	Alternative sequence	ID=VSP_050627;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9020160,ECO:0000303\|PubMed:9405935;Dbxref=PMID:15489334,PMID:9020160,PMID:9405935
Q9UBF8	303	318	2	816	Chain	ID=PRO_0000088829;Note=Phosphatidylinositol 4-kinase beta
Q9UBF8	394	470	392	394	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4WAE
Q9UBF8	394	470	397	405	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C46
Q9UBF8	394	470	2	816	Chain	ID=PRO_0000088829;Note=Phosphatidylinositol 4-kinase beta
Q9UBF8	394	470	428	428	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,E
Q9UBF8	394	470	438	438	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11277933;Dbxref=PMID:11277933
Q9UBF8	394	470	446	446	Sequence conflict	Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UBF8	394	470	409	411	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C46
Q9UBF8	507	541	2	816	Chain	ID=PRO_0000088829;Note=Phosphatidylinositol 4-kinase beta
Q9UBF8	507	541	537	546	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5C46
Q9UBF8	507	541	511	511	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163,ECO:0000269\|PubMed:11277933;Dbxref=PMID:18220336,PMID:18669648,PMID:23186163,PMID
Q9UBF8	507	541	517	517	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q9UBF8	507	541	519	519	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11277933;Dbxref=PMID:11277933

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SNVs in the skipped exons for PI4KB

- 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
UCEC	TCGA-BS-A0UM-01	exon_skip_30663	151266885	151267017	151266997	151266997	Frame_Shift_Del	A	-	p.L691fs
LIHC	TCGA-DD-A3A0-01	exon_skip_30676	151274670	151274774	151274729	151274729	Frame_Shift_Del	T	-	p.K534fs
LUAD	TCGA-44-7667-01	exon_skip_30679	151280050	151280277	151280136	151280136	Frame_Shift_Del	G	-	p.R378fs
COAD	TCGA-A6-5665-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288150	151288150	Frame_Shift_Del	T	-	p.R270fs
LIHC	TCGA-DD-A1EG-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288306	151288306	Frame_Shift_Del	C	-	p.A230fs
LIHC	TCGA-DD-A39Y-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288306	151288306	Frame_Shift_Del	C	-	p.A230fs
KIRC	TCGA-B0-5098-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288484	151288484	Frame_Shift_Del	G	-	p.A170fs
LIHC	TCGA-DD-A3A0-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288659	151288659	Frame_Shift_Del	T	-	p.E113fs
COAD	TCGA-AZ-6605-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288877	151288877	Frame_Shift_Del	C	-	p.S28fs
STAD	TCGA-BR-4257-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288877	151288877	Frame_Shift_Del	C	-	p.S40fs
LIHC	TCGA-BC-A112-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288332	151288333	Frame_Shift_Ins	-	A	p.P221fs
LIHC	TCGA-BC-A112-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288385	151288386	Frame_Shift_Ins	-	C	p.G203fs
KIRC	TCGA-B0-5098-01	exon_skip_30676	151274670	151274774	151274728	151274728	Nonsense_Mutation	G	A	p.R535*
CESC	TCGA-EA-A3QD-01	exon_skip_30678	151278612	151278839	151278698	151278698	Nonsense_Mutation	G	A	p.R454*
LIHC	TCGA-G3-A3CK-01	exon_skip_30679	151280050	151280277	151280253	151280253	Nonsense_Mutation	C	A	p.E339*
LIHC	TCGA-G3-A3CK-01	exon_skip_30679	151280050	151280277	151280253	151280253	Nonsense_Mutation	C	A	p.E339X
SKCM	TCGA-QB-A6FS-06	exon_skip_30679	151280050	151280277	151280271	151280271	Nonsense_Mutation	G	A	p.R333*
UCEC	TCGA-B5-A11E-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288273	151288273	Nonsense_Mutation	G	A	p.R241*
BLCA	TCGA-UY-A9PB-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288551	151288551	Nonsense_Mutation	G	C	p.S148*
BLCA	TCGA-ZF-AA4V-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288629	151288629	Nonsense_Mutation	G	C	p.S122*
SARC	TCGA-SG-A6Z7-01	exon_skip_30696 exon_skip_30687	151288049	151288985	151288732	151288732	Nonsense_Mutation	C	A	p.E88*
SKCM	TCGA-RP-A694-06	exon_skip_30686	151288049	151288148	151288047	151288047	Splice_Site	A	G	.
SKCM	TCGA-RP-A694-06	exon_skip_30696 exon_skip_30687	151288049	151288985	151288047	151288047	Splice_Site	A	G	.

- 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
CAL851_BREAST	151288049	151288985	151288451	151288471	In_Frame_Del	GTTGCGAAAGCAGAAGAGCCG	-	p.RLFCFRN163del
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151266885	151267017	151266887	151266887	Missense_Mutation	C	T	p.D716N
OVK18_OVARY	151271284	151271549	151271347	151271347	Missense_Mutation	C	T	p.R651H
CORL303_LUNG	151271284	151271549	151271347	151271347	Missense_Mutation	C	G	p.R651P
CW2_LARGE_INTESTINE	151271284	151271549	151271354	151271354	Missense_Mutation	C	T	p.A649T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151274670	151274774	151274706	151274706	Missense_Mutation	G	A	p.A530V
NCIH1793_LUNG	151274670	151274774	151274727	151274727	Missense_Mutation	C	A	p.R523L
OV56_OVARY	151274670	151274774	151274742	151274742	Missense_Mutation	G	A	p.P518L
NB17_AUTONOMIC_GANGLIA	151278612	151278839	151278772	151278772	Missense_Mutation	C	T	p.R417Q
HEC6_ENDOMETRIUM	151280050	151280277	151280118	151280118	Missense_Mutation	C	T	p.A372T
IGROV1_OVARY	151280050	151280277	151280220	151280220	Missense_Mutation	G	A	p.R338W
FTC238_THYROID	151280050	151280277	151280232	151280232	Missense_Mutation	C	T	p.A334T
HCT15_LARGE_INTESTINE	151280050	151280277	151280238	151280238	Missense_Mutation	G	T	p.L332M
HRT18_LARGE_INTESTINE	151280050	151280277	151280238	151280238	Missense_Mutation	G	T	p.L332M
HEC108_ENDOMETRIUM	151280050	151280277	151280274	151280274	Missense_Mutation	C	T	p.V320I
HCC366_LUNG	151282687	151282731	151282716	151282716	Missense_Mutation	T	A	p.T309S
CAL27_UPPER_AERODIGESTIVE_TRACT	151282687	151282731	151282721	151282721	Missense_Mutation	G	C	p.S307C
HEC59_ENDOMETRIUM	151288049	151288985	151288099	151288099	Missense_Mutation	T	C	p.S287G
HEC59_ENDOMETRIUM	151288049	151288148	151288099	151288099	Missense_Mutation	T	C	p.S287G
SW948_LARGE_INTESTINE	151288049	151288985	151288182	151288182	Missense_Mutation	G	A	p.P259L
HEC1A_ENDOMETRIUM	151288049	151288985	151288272	151288272	Missense_Mutation	C	T	p.R229Q
NCIH64_LUNG	151288049	151288985	151288404	151288404	Missense_Mutation	T	C	p.H185R
A101D_SKIN	151288049	151288985	151288450	151288450	Missense_Mutation	C	T	p.E170K
HS294T_SKIN	151288049	151288985	151288450	151288450	Missense_Mutation	C	T	p.E170K
LS180_LARGE_INTESTINE	151288049	151288985	151288450	151288450	Missense_Mutation	C	T	p.E170K
CAL72_BONE	151288049	151288985	151288456	151288456	Missense_Mutation	G	A	p.R168C
SISO_CERVIX	151288049	151288985	151288470	151288470	Missense_Mutation	C	T	p.R163Q
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151288049	151288985	151288470	151288470	Missense_Mutation	C	T	p.R163Q
DMS454_LUNG	151288049	151288985	151288629	151288629	Missense_Mutation	G	A	p.S110L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151288049	151288985	151288704	151288704	Missense_Mutation	C	T	p.S85N
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151288049	151288985	151288828	151288828	Missense_Mutation	C	T	p.D44N
CL34_LARGE_INTESTINE	151288049	151288985	151288857	151288857	Missense_Mutation	G	A	p.T34M
DU4475_BREAST	151288049	151288985	151288936	151288936	Missense_Mutation	G	A	p.P8S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151271284	151271549	151271393	151271393	Nonsense_Mutation	G	A	p.Q636*
PLCPRF5_LIVER	151282687	151282731	151282687	151282687	Splice_Site	G	C	p.S318S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PI4KB

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_30696	1	151282686:151282731:151288048:151288985:151298647:151298724	151288048:151288985	ENST00000368875.2,ENST00000271657.5	COAD	rs1056847	chr1:151288172	G/A	6.64e-04
exon_skip_30696	1	151282686:151282731:151288048:151288985:151298647:151298724	151288048:151288985	ENST00000368875.2,ENST00000271657.5	LGG	rs1056847	chr1:151288172	G/A	2.27e-03
exon_skip_30696	1	151282686:151282731:151288048:151288985:151298647:151298724	151288048:151288985	ENST00000368875.2,ENST00000271657.5	KIRC	rs1056847	chr1:151288172	G/A	1.79e-03
exon_skip_30696	1	151282686:151282731:151288048:151288985:151298647:151298724	151288048:151288985	ENST00000368875.2,ENST00000271657.5	THCA	rs1056847	chr1:151288172	G/A	2.47e-04
exon_skip_30687	1	151280049:151280277:151288048:151288985:151297220:151297393	151288048:151288985	ENST00000368872.1	COAD	rs1056847	chr1:151288172	G/A	6.64e-04
exon_skip_30687	1	151280049:151280277:151288048:151288985:151297220:151297393	151288048:151288985	ENST00000368872.1	LGG	rs1056847	chr1:151288172	G/A	2.27e-03
exon_skip_30687	1	151280049:151280277:151288048:151288985:151297220:151297393	151288048:151288985	ENST00000368872.1	KIRC	rs1056847	chr1:151288172	G/A	1.79e-03
exon_skip_30687	1	151280049:151280277:151288048:151288985:151297220:151297393	151288048:151288985	ENST00000368872.1	THCA	rs1056847	chr1:151288172	G/A	2.47e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PI4KB

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PI4KB

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RelatedDrugs for PI4KB

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
	Q9UBF8	DB12010	Fostamatinib	Phosphatidylinositol 4-kinase beta	small molecule	approved\|investigational

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RelatedDiseases for PI4KB

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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