ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for STK11IP

Gene summary

Gene information	Gene symbol	STK11IP
	Gene ID	114790
	Gene name	serine/threonine kinase 11 interacting protein
	Synonyms	LIP1\|LKB1IP\|STK11IP1
	Cytomap	2q35
	Type of gene	protein-coding
	Description	serine/threonine-protein kinase 11-interacting proteinLKB1-interacting protein 1STK11 interacting protein
	Modification date	20180523
	UniProtAcc	Q8N1F8
	Context	PubMed: STK11IP [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
STK11IP	GO:0008104	protein localization	11741830

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Exon skipping events across known transcript of Ensembl for STK11IP 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 STK11IP

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 STK11IP

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_334168	2	220466709:220466805:220467189:220467297:220467426:220467431	220467189:220467297	ENSG00000144589.16	ENST00000468584.1,ENST00000295641.10,ENST00000475396.1,ENST00000459692.1,ENST00000456909.1
exon_skip_334169	2	220470677:220470781:220470916:220471012:220471197:220471239	220470916:220471012	ENSG00000144589.16	ENST00000295641.10,ENST00000475396.1,ENST00000466648.1,ENST00000456909.1
exon_skip_334170	2	220470916:220471012:220471197:220471239:220471433:220471579	220471197:220471239	ENSG00000144589.16	ENST00000295641.10,ENST00000475396.1,ENST00000466648.1,ENST00000456909.1
exon_skip_334171	2	220473304:220473510:220473818:220473935:220474084:220474262	220473818:220473935	ENSG00000144589.16	ENST00000295641.10,ENST00000475396.1,ENST00000456909.1
exon_skip_334175	2	220473867:220473935:220474084:220474262:220476325:220476556	220474084:220474262	ENSG00000144589.16	ENST00000295641.10,ENST00000456909.1
exon_skip_334180	2	220474084:220474262:220476325:220476556:220476676:220476780	220476325:220476556	ENSG00000144589.16	ENST00000295641.10,ENST00000456909.1
exon_skip_334186	2	220478637:220478652:220478882:220478964:220479197:220479268	220478882:220478964	ENSG00000144589.16	ENST00000495941.1,ENST00000295641.10,ENST00000447191.1,ENST00000413891.1,ENST00000456909.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for STK11IP

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_334168	2	220466709:220466805:220467189:220467297:220467426:220467431	220467189:220467297	ENSG00000144589.16	ENST00000456909.1,ENST00000295641.10,ENST00000475396.1,ENST00000468584.1,ENST00000459692.1
exon_skip_334169	2	220470677:220470781:220470916:220471012:220471197:220471239	220470916:220471012	ENSG00000144589.16	ENST00000456909.1,ENST00000295641.10,ENST00000475396.1,ENST00000466648.1
exon_skip_334170	2	220470916:220471012:220471197:220471239:220471433:220471579	220471197:220471239	ENSG00000144589.16	ENST00000456909.1,ENST00000295641.10,ENST00000475396.1,ENST00000466648.1
exon_skip_334171	2	220473304:220473510:220473818:220473935:220474084:220474262	220473818:220473935	ENSG00000144589.16	ENST00000456909.1,ENST00000295641.10,ENST00000475396.1
exon_skip_334175	2	220473867:220473935:220474084:220474262:220476325:220476556	220474084:220474262	ENSG00000144589.16	ENST00000456909.1,ENST00000295641.10
exon_skip_334180	2	220474084:220474262:220476325:220476556:220476676:220476780	220476325:220476556	ENSG00000144589.16	ENST00000456909.1,ENST00000295641.10
exon_skip_334186	2	220478637:220478652:220478882:220478964:220479197:220479268	220478882:220478964	ENSG00000144589.16	ENST00000456909.1,ENST00000295641.10,ENST00000413891.1,ENST00000495941.1,ENST00000447191.1

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 STK11IP

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
ENST00000456909	220474084	220474262	Frame-shift
ENST00000456909	220478882	220478964	Frame-shift
ENST00000456909	220467189	220467297	In-frame
ENST00000456909	220470916	220471012	In-frame
ENST00000456909	220471197	220471239	In-frame
ENST00000456909	220473818	220473935	In-frame
ENST00000456909	220476325	220476556	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
ENST00000456909	220474084	220474262	Frame-shift
ENST00000456909	220478882	220478964	Frame-shift
ENST00000456909	220467189	220467297	In-frame
ENST00000456909	220470916	220471012	In-frame
ENST00000456909	220471197	220471239	In-frame
ENST00000456909	220473818	220473935	In-frame
ENST00000456909	220476325	220476556	In-frame

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Infer the effects of exon skipping event on protein functional features for STK11IP

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
ENST00000456909	3632	1088	220467189	220467297	529	636	146	182
ENST00000456909	3632	1088	220470916	220471012	940	1035	283	315
ENST00000456909	3632	1088	220471197	220471239	1036	1077	315	329
ENST00000456909	3632	1088	220473818	220473935	1900	2016	603	642
ENST00000456909	3632	1088	220476325	220476556	2195	2425	701	778

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
ENST00000456909	3632	1088	220467189	220467297	529	636	146	182
ENST00000456909	3632	1088	220470916	220471012	940	1035	283	315
ENST00000456909	3632	1088	220471197	220471239	1036	1077	315	329
ENST00000456909	3632	1088	220473818	220473935	1900	2016	603	642
ENST00000456909	3632	1088	220476325	220476556	2195	2425	701	778

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
Q8N1F8	146	182	1	1088	Chain	ID=PRO_0000317462;Note=Serine/threonine-protein kinase 11-interacting protein
Q8N1F8	146	182	132	152	Repeat	Note=LRR 2
Q8N1F8	146	182	164	185	Repeat	Note=LRR 3
Q8N1F8	283	315	1	1088	Chain	ID=PRO_0000317462;Note=Serine/threonine-protein kinase 11-interacting protein
Q8N1F8	283	315	280	301	Repeat	Note=LRR 8
Q8N1F8	315	329	1	1088	Chain	ID=PRO_0000317462;Note=Serine/threonine-protein kinase 11-interacting protein
Q8N1F8	603	642	1	1088	Chain	ID=PRO_0000317462;Note=Serine/threonine-protein kinase 11-interacting protein
Q8N1F8	701	778	1	1088	Chain	ID=PRO_0000317462;Note=Serine/threonine-protein kinase 11-interacting protein
Q8N1F8	701	778	761	761	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:18669648,PMID:23186163,PMID:24275569
Q8N1F8	701	778	773	773	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q8N1F8	701	778	777	777	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q8N1F8	701	778	741	741	Natural variant	ID=VAR_038532;Note=S->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11572484,ECO:0000269\|PubMed:11741830,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs627530,PMID:11572484,PMID:11741830,PMID:15489334

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
Q8N1F8	146	182	1	1088	Chain	ID=PRO_0000317462;Note=Serine/threonine-protein kinase 11-interacting protein
Q8N1F8	146	182	132	152	Repeat	Note=LRR 2
Q8N1F8	146	182	164	185	Repeat	Note=LRR 3
Q8N1F8	283	315	1	1088	Chain	ID=PRO_0000317462;Note=Serine/threonine-protein kinase 11-interacting protein
Q8N1F8	283	315	280	301	Repeat	Note=LRR 8
Q8N1F8	315	329	1	1088	Chain	ID=PRO_0000317462;Note=Serine/threonine-protein kinase 11-interacting protein
Q8N1F8	603	642	1	1088	Chain	ID=PRO_0000317462;Note=Serine/threonine-protein kinase 11-interacting protein
Q8N1F8	701	778	1	1088	Chain	ID=PRO_0000317462;Note=Serine/threonine-protein kinase 11-interacting protein
Q8N1F8	701	778	761	761	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:18669648,PMID:23186163,PMID:24275569
Q8N1F8	701	778	773	773	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q8N1F8	701	778	777	777	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q8N1F8	701	778	741	741	Natural variant	ID=VAR_038532;Note=S->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11572484,ECO:0000269\|PubMed:11741830,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs627530,PMID:11572484,PMID:11741830,PMID:15489334

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SNVs in the skipped exons for STK11IP

- 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-DD-A1EG-01	exon_skip_334171	220473819	220473935	220473841	220473841	Frame_Shift_Del	C	-	p.A611fs
CHOL	TCGA-W5-AA39-01	exon_skip_334175	220474085	220474262	220474091	220474091	Frame_Shift_Del	C	-	p.L645fs
CHOL	TCGA-W5-AA39-01	exon_skip_334175	220474085	220474262	220474091	220474091	Frame_Shift_Del	C	-	p.L655fs
CHOL	TCGA-W5-AA39-01	exon_skip_334175	220474085	220474262	220474091	220474092	Frame_Shift_Del	CT	-	p.655_656del
LIHC	TCGA-DD-A3A0-01	exon_skip_334180	220476326	220476556	220476386	220476386	Frame_Shift_Del	G	-	p.R722fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_334180	220476326	220476556	220476386	220476386	Frame_Shift_Del	G	-	p.R722fs
STAD	TCGA-CG-4465-01	exon_skip_334186	220478883	220478964	220478946	220478946	Frame_Shift_Del	C	-	p.T938fs
STAD	TCGA-F1-6874-01	exon_skip_334186	220478883	220478964	220478946	220478946	Frame_Shift_Del	C	-	p.T938fs
STAD	TCGA-BR-8078-01	exon_skip_334169	220470917	220471012	220471013	220471013	Splice_Site	G	A	p.G326_splice

- 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
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220467190	220467297	220467200	220467200	Missense_Mutation	C	T	p.S150L
SNU878_LIVER	220467190	220467297	220467262	220467262	Missense_Mutation	A	T	p.S171C
SNU878_LIVER	220467190	220467297	220467263	220467263	Missense_Mutation	G	T	p.S171I
NCIH1930_LUNG	220470917	220471012	220470943	220470943	Missense_Mutation	G	T	p.W292C
HCT116_LARGE_INTESTINE	220470917	220471012	220470989	220470989	Missense_Mutation	C	T	p.R308W
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220473819	220473935	220473867	220473867	Missense_Mutation	T	C	p.Y620H
CCFSTTG1_CENTRAL_NERVOUS_SYSTEM	220473819	220473935	220473892	220473892	Missense_Mutation	G	A	p.R628H
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220474085	220474262	220474170	220474170	Missense_Mutation	A	T	p.Q671L
OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220474085	220474262	220474170	220474170	Missense_Mutation	A	T	p.Q671L
ASPC1_PANCREAS	220474085	220474262	220474206	220474206	Missense_Mutation	A	T	p.E683V
NCIH2291_LUNG	220476326	220476556	220476337	220476337	Missense_Mutation	G	T	p.V706L
KMRC2_KIDNEY	220476326	220476556	220476362	220476362	Missense_Mutation	A	C	p.H714P
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220476326	220476556	220476362	220476362	Missense_Mutation	A	C	p.H714P
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220476326	220476556	220476416	220476416	Missense_Mutation	G	A	p.G732E
HT115_LARGE_INTESTINE	220476326	220476556	220476440	220476440	Missense_Mutation	C	T	p.P740L
CW2_LARGE_INTESTINE	220476326	220476556	220476452	220476452	Missense_Mutation	C	A	p.P744H
HEC1_ENDOMETRIUM	220476326	220476556	220476514	220476514	Missense_Mutation	G	A	p.A765T
VAESBJ_SOFT_TISSUE	220476326	220476556	220476550	220476550	Missense_Mutation	A	C	p.S777R
MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220478883	220478964	220478888	220478888	Missense_Mutation	T	G	p.L908V
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	220478883	220478964	220478906	220478906	Missense_Mutation	G	T	p.A914S
HEC59_ENDOMETRIUM	220478883	220478964	220478957	220478957	Missense_Mutation	C	T	p.R931W
NB17_AUTONOMIC_GANGLIA	220467190	220467297	220467207	220467207	Nonsense_Mutation	C	A	p.C152*
HCT15_LARGE_INTESTINE	220470917	220471012	220471012	220471012	Splice_Site	C	T	p.G315G
KYM1_SOFT_TISSUE	220473819	220473935	220473820	220473820	Splice_Site	G	A	p.G604D

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STK11IP

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 STK11IP

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STK11IP

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RelatedDrugs for STK11IP

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 STK11IP

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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