ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for KEAP1

Gene summary

Gene information	Gene symbol	KEAP1
	Gene ID	9817
	Gene name	kelch like ECH associated protein 1
	Synonyms	INrf2\|KLHL19
	Cytomap	19p13.2
	Type of gene	protein-coding
	Description	kelch-like ECH-associated protein 1KEAP1 delta Ccytosolic inhibitor of Nrf2kelch-like family member 19kelch-like protein 19
	Modification date	20180527
	UniProtAcc	Q14145
	Context	PubMed: KEAP1 [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
KEAP1	GO:0010499	proteasomal ubiquitin-independent protein catabolic process	15983046
KEAP1	GO:0016567	protein ubiquitination	15983046

Top

Exon skipping events across known transcript of Ensembl for KEAP1 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.

Top

Gene isoform structures and expression levels for KEAP1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for KEAP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_314929	19	10597393:10597494:10599867:10600044:10600323:10600529	10599867:10600044	ENSG00000079999.9	ENST00000393623.2,ENST00000171111.5
exon_skip_314931	19	10597393:10597494:10599867:10600044:10602252:10602396	10599867:10600044	ENSG00000079999.9	ENST00000590593.1
exon_skip_314932	19	10597393:10597494:10600323:10600529:10602252:10602396	10600323:10600529	ENSG00000079999.9	ENST00000592478.1
exon_skip_314934	19	10599867:10600044:10600323:10600529:10602252:10602396	10600323:10600529	ENSG00000079999.9	ENST00000393623.2,ENST00000171111.5
exon_skip_314936	19	10602935:10602938:10603248:10603393:10610070:10610185	10603248:10603393	ENSG00000079999.9	ENST00000588024.1
exon_skip_314937	19	10602935:10602938:10610070:10610262:10613916:10614234	10610070:10610262	ENSG00000079999.9	ENST00000585845.1
exon_skip_314938	19	10602935:10602938:10610070:10610756:10613372:10613572	10610070:10610756	ENSG00000079999.9	ENST00000393623.2

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for KEAP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_314929	19	10597393:10597494:10599867:10600044:10600323:10600529	10599867:10600044	ENSG00000079999.9	ENST00000171111.5,ENST00000393623.2
exon_skip_314931	19	10597393:10597494:10599867:10600044:10602252:10602396	10599867:10600044	ENSG00000079999.9	ENST00000590593.1
exon_skip_314932	19	10597393:10597494:10600323:10600529:10602252:10602396	10600323:10600529	ENSG00000079999.9	ENST00000592478.1
exon_skip_314934	19	10599867:10600044:10600323:10600529:10602252:10602396	10600323:10600529	ENSG00000079999.9	ENST00000171111.5,ENST00000393623.2
exon_skip_314936	19	10602935:10602938:10603248:10603393:10610070:10610185	10603248:10603393	ENSG00000079999.9	ENST00000588024.1
exon_skip_314938	19	10602935:10602938:10610070:10610756:10613372:10613572	10610070:10610756	ENSG00000079999.9	ENST00000393623.2

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for KEAP1

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
ENST00000393623	10610070	10610756	3UTR-3CDS
ENST00000171111	10600323	10600529	Frame-shift
ENST00000393623	10600323	10600529	Frame-shift
ENST00000171111	10599867	10600044	In-frame
ENST00000393623	10599867	10600044	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
ENST00000393623	10610070	10610756	3UTR-3CDS
ENST00000171111	10600323	10600529	Frame-shift
ENST00000393623	10600323	10600529	Frame-shift
ENST00000171111	10599867	10600044	In-frame
ENST00000393623	10599867	10600044	In-frame

Top

Infer the effects of exon skipping event on protein functional features for KEAP1

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
ENST00000171111	2972	624	10599867	10600044	2080	2256	510	569
ENST00000393623	2665	624	10599867	10600044	1779	1955	510	569

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
ENST00000171111	2972	624	10599867	10600044	2080	2256	510	569
ENST00000393623	2665	624	10599867	10600044	1779	1955	510	569

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
Q14145	510	569	511	515	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	511	515	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	518	522	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	518	522	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	527	530	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	527	530	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	534	538	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	534	538	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	543	547	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	543	547	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	558	562	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	558	562	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	565	569	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	565	569	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	1	624	Chain	ID=PRO_0000119093;Note=Kelch-like ECH-associated protein 1
Q14145	510	569	1	624	Chain	ID=PRO_0000119093;Note=Kelch-like ECH-associated protein 1
Q14145	510	569	525	525	Mutagenesis	Note=Loss of interaction with NFE2L2. Strongly reduces repression of NFE2L2-dependent gene expression. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16888629;Dbxref=PMID:16888629
Q14145	510	569	525	525	Mutagenesis	Note=Loss of interaction with NFE2L2. Strongly reduces repression of NFE2L2-dependent gene expression. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16888629;Dbxref=PMID:16888629
Q14145	510	569	522	522	Natural variant	ID=VAR_036085;Note=In a breast cancer sample%3B somatic mutation. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
Q14145	510	569	522	522	Natural variant	ID=VAR_036085;Note=In a breast cancer sample%3B somatic mutation. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
Q14145	510	569	471	517	Repeat	Note=Kelch 4
Q14145	510	569	471	517	Repeat	Note=Kelch 4
Q14145	510	569	518	564	Repeat	Note=Kelch 5
Q14145	510	569	518	564	Repeat	Note=Kelch 5
Q14145	510	569	565	611	Repeat	Note=Kelch 6
Q14145	510	569	565	611	Repeat	Note=Kelch 6
Q14145	510	569	539	542	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	539	542	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK

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
Q14145	510	569	511	515	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	511	515	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	518	522	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	518	522	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	527	530	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	527	530	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	534	538	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	534	538	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	543	547	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	543	547	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	558	562	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	558	562	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	565	569	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	565	569	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	1	624	Chain	ID=PRO_0000119093;Note=Kelch-like ECH-associated protein 1
Q14145	510	569	1	624	Chain	ID=PRO_0000119093;Note=Kelch-like ECH-associated protein 1
Q14145	510	569	525	525	Mutagenesis	Note=Loss of interaction with NFE2L2. Strongly reduces repression of NFE2L2-dependent gene expression. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16888629;Dbxref=PMID:16888629
Q14145	510	569	525	525	Mutagenesis	Note=Loss of interaction with NFE2L2. Strongly reduces repression of NFE2L2-dependent gene expression. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16888629;Dbxref=PMID:16888629
Q14145	510	569	522	522	Natural variant	ID=VAR_036085;Note=In a breast cancer sample%3B somatic mutation. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
Q14145	510	569	522	522	Natural variant	ID=VAR_036085;Note=In a breast cancer sample%3B somatic mutation. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16959974;Dbxref=PMID:16959974
Q14145	510	569	471	517	Repeat	Note=Kelch 4
Q14145	510	569	471	517	Repeat	Note=Kelch 4
Q14145	510	569	518	564	Repeat	Note=Kelch 5
Q14145	510	569	518	564	Repeat	Note=Kelch 5
Q14145	510	569	565	611	Repeat	Note=Kelch 6
Q14145	510	569	565	611	Repeat	Note=Kelch 6
Q14145	510	569	539	542	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK
Q14145	510	569	539	542	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1ZGK

Top

SNVs in the skipped exons for KEAP1

- 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
LUAD	TCGA-J2-8194-01	exon_skip_314931 exon_skip_314929	10599868	10600044	10599954	10599958	Frame_Shift_Del	GTTTC	-	p.ET542fs
LIHC	TCGA-DD-AACO-01	exon_skip_314931 exon_skip_314929	10599868	10600044	10600016	10600019	Frame_Shift_Del	ATAG	-	p.520_521del
LUAD	TCGA-17-Z036-01	exon_skip_314932 exon_skip_314934	10600324	10600529	10600356	10600356	Frame_Shift_Del	A	-	p.I500fs
LUAD	TCGA-78-7146-01	exon_skip_314932 exon_skip_314934	10600324	10600529	10600380	10600380	Frame_Shift_Del	G	-	p.P492fs
LUAD	TCGA-78-7156-01	exon_skip_314932 exon_skip_314934	10600324	10600529	10600425	10600425	Frame_Shift_Del	C	-	p.G477fs
LUAD	TCGA-62-A470-01	exon_skip_314932 exon_skip_314934	10600324	10600529	10600473	10600479	Frame_Shift_Del	ATCCTTC	-	p.RRI459fs
BRCA	TCGA-A8-A09W-01	exon_skip_314932 exon_skip_314934	10600324	10600529	10600502	10600502	Frame_Shift_Del	G	-	p.L452fs
LUAD	TCGA-44-A47F-01	exon_skip_314937	10610071	10610262	10610187	10610187	Frame_Shift_Del	G	-	p.L175fs
LUAD	TCGA-44-A47F-01	exon_skip_314938	10610071	10610756	10610187	10610187	Frame_Shift_Del	G	-	p.L175fs
LIHC	TCGA-DD-AACB-01	exon_skip_314938	10610071	10610756	10610330	10610330	Frame_Shift_Del	C	-	p.G127fs
BLCA	TCGA-DK-A1A3-01	exon_skip_314931 exon_skip_314929	10599868	10600044	10599968	10599969	Frame_Shift_Ins	-	CA	p.R536fs
UCEC	TCGA-BS-A0TE-01	exon_skip_314931 exon_skip_314929	10599868	10600044	10600021	10600022	Frame_Shift_Ins	-	A	p.C518fs
UCEC	TCGA-BS-A0TE-01	exon_skip_314931 exon_skip_314929	10599868	10600044	10600021	10600022	Frame_Shift_Ins	-	A	p.I518fs
LUSC	TCGA-33-4532-01	exon_skip_314932 exon_skip_314934	10600324	10600529	10600448	10600449	Frame_Shift_Ins	-	T	p.N469fs
BRCA	TCGA-A8-A09W-01	exon_skip_314932 exon_skip_314934	10600324	10600529	10600498	10600499	Frame_Shift_Ins	-	T	p.V452fs
HNSC	TCGA-CV-A6JU-01	exon_skip_314938	10610071	10610756	10610334	10610335	Frame_Shift_Ins	-	A	p.G126fs
BRCA	TCGA-EW-A1J5-01	exon_skip_314932 exon_skip_314934	10600324	10600529	10600510	10600510	Nonsense_Mutation	C	A	p.E449*
LUAD	TCGA-35-3615-01	exon_skip_314932 exon_skip_314934	10600324	10600529	10600510	10600510	Nonsense_Mutation	C	A	p.E449*
LUAD	TCGA-97-8179-01	exon_skip_314937	10610071	10610262	10610109	10610109	Nonsense_Mutation	G	A	p.Q201*
LUAD	TCGA-97-8179-01	exon_skip_314938	10610071	10610756	10610109	10610109	Nonsense_Mutation	G	A	p.Q201*
LUAD	TCGA-55-8505-01	exon_skip_314937	10610071	10610262	10610133	10610133	Nonsense_Mutation	G	A	p.Q193*
LUAD	TCGA-55-8505-01	exon_skip_314938	10610071	10610756	10610133	10610133	Nonsense_Mutation	G	A	p.Q193*
KIRP	TCGA-P4-A5EB-01	exon_skip_314937	10610071	10610262	10610178	10610178	Nonsense_Mutation	G	A	p.Q178*
KIRP	TCGA-P4-A5EB-01	exon_skip_314937	10610071	10610262	10610178	10610178	Nonsense_Mutation	G	A	p.Q178X
KIRP	TCGA-P4-A5EB-01	exon_skip_314938	10610071	10610756	10610178	10610178	Nonsense_Mutation	G	A	p.Q178*
KIRP	TCGA-P4-A5EB-01	exon_skip_314938	10610071	10610756	10610178	10610178	Nonsense_Mutation	G	A	p.Q178X
HNSC	TCGA-UF-A7JF-01	exon_skip_314938	10610071	10610756	10610310	10610310	Nonsense_Mutation	C	A	p.E134*
LIHC	TCGA-DD-AACQ-01	exon_skip_314938	10610071	10610756	10610421	10610421	Nonsense_Mutation	T	A	p.K97X
LUSC	TCGA-46-6025-01	exon_skip_314938	10610071	10610756	10610487	10610487	Nonsense_Mutation	G	A	p.Q75*
LUAD	TCGA-50-5936-01	exon_skip_314938	10610071	10610756	10610574	10610574	Nonsense_Mutation	G	A	p.Q46*
LUAD	TCGA-69-8253-01	exon_skip_314938	10610071	10610756	10610589	10610589	Nonsense_Mutation	C	A	p.E41*
STAD	TCGA-BR-7851-01	exon_skip_314938	10610071	10610756	10610652	10610652	Nonsense_Mutation	G	A	p.Q20*
LUAD	TCGA-55-6972-01	exon_skip_314931 exon_skip_314929	10599868	10600044	10599866	10599866	Splice_Site	A	T	p.G570_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-55-6972-01
	Cancer type: LUAD
	ESID: exon_skip_314929
	Skipped exon start: 10599868
	Skipped exon end: 10600044
	Mutation start: 10599866
	Mutation end: 10599866
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: T
	AAchange: p.G570_splice
exon_skip_314929_LUAD_TCGA-55-6972-01.png
exon_skip_314931_LUAD_TCGA-55-6972-01.png
exon_skip_375956_LUAD_TCGA-55-6972-01.png
	Sample: TCGA-55-6972-01
	Cancer type: LUAD
	ESID: exon_skip_314929
	Skipped exon start: 10599868
	Skipped exon end: 10600044
	Mutation start: 10599866
	Mutation end: 10599866
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: T
	AAchange: p.G570_splice
exon_skip_314929_LUAD_TCGA-55-6972-01.png
exon_skip_314931_LUAD_TCGA-55-6972-01.png
exon_skip_375956_LUAD_TCGA-55-6972-01.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
HCC2108_LUNG	10599868	10600044	10599924	10599924	Frame_Shift_Del	T	-	p.K551fs
MORCPR_LUNG	10599868	10600044	10599924	10599924	Frame_Shift_Del	T	-	p.K551fs
GSS_STOMACH	10599868	10600044	10599943	10599943	Frame_Shift_Del	T	-	p.T545fs
NCIH2122_LUNG	10610071	10610262	10610103	10610104	Frame_Shift_Ins	-	A	p.A203fs
NCIH2122_LUNG	10610071	10610756	10610103	10610104	Frame_Shift_Ins	-	A	p.A203fs
RERFLCMS_LUNG	10610071	10610756	10610352	10610354	In_Frame_Del	TGC	-	p.119_120GM>V
NCIH2030_LUNG	10599868	10600044	10599874	10599874	Missense_Mutation	C	A	p.V568F
SF172_CENTRAL_NERVOUS_SYSTEM	10599868	10600044	10599876	10599876	Missense_Mutation	T	G	p.Y567S
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10599868	10600044	10599877	10599877	Missense_Mutation	A	G	p.Y567H
BEN_LUNG	10599868	10600044	10599910	10599910	Missense_Mutation	C	T	p.A556T
HEC1_ENDOMETRIUM	10599868	10600044	10599937	10599937	Missense_Mutation	C	T	p.V547I
SNU1040_LARGE_INTESTINE	10599868	10600044	10599964	10599964	Missense_Mutation	C	T	p.D538N
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10599868	10600044	10599969	10599969	Missense_Mutation	C	T	p.R536H
NCIH647_LUNG	10599868	10600044	10600009	10600009	Missense_Mutation	C	A	p.G523W
T3M10_LUNG	10599868	10600044	10600009	10600009	Missense_Mutation	C	A	p.G523W
JHOC5_OVARY	10600324	10600529	10600407	10600407	Missense_Mutation	C	T	p.R483H
HEC265_ENDOMETRIUM	10600324	10600529	10600408	10600408	Missense_Mutation	G	A	p.R483C
MPP89_PLEURA	10600324	10600529	10600408	10600408	Missense_Mutation	G	C	p.R483G
TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10600324	10600529	10600420	10600420	Missense_Mutation	C	T	p.D479N
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10600324	10600529	10600426	10600426	Missense_Mutation	C	A	p.G477C
NCIH1792_LUNG	10600324	10600529	10600471	10600471	Missense_Mutation	C	A	p.G462W
HCC2998_LARGE_INTESTINE	10600324	10600529	10600474	10600474	Missense_Mutation	T	C	p.I461V
NCIH322_LUNG	10600324	10600529	10600475	10600475	Missense_Mutation	C	A	p.R460S
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10600324	10600529	10600479	10600479	Missense_Mutation	C	T	p.R459Q
HCC44_LUNG	10610071	10610262	10610078	10610078	Missense_Mutation	A	C	p.F211C
HCC44_LUNG	10610071	10610756	10610078	10610078	Missense_Mutation	A	C	p.F211C
NCIH2122_LUNG	10610071	10610262	10610102	10610102	Missense_Mutation	G	A	p.A203V
NCIH2122_LUNG	10610071	10610756	10610102	10610102	Missense_Mutation	G	A	p.A203V
NCIH23_LUNG	10610071	10610262	10610131	10610131	Missense_Mutation	C	G	p.Q193H
NCIH23_LUNG	10610071	10610756	10610131	10610131	Missense_Mutation	C	G	p.Q193H
HCT15_LARGE_INTESTINE	10610071	10610262	10610148	10610148	Missense_Mutation	C	T	p.A188T
HCT15_LARGE_INTESTINE	10610071	10610756	10610148	10610148	Missense_Mutation	C	T	p.A188T
BICR10_UPPER_AERODIGESTIVE_TRACT	10610071	10610262	10610154	10610154	Missense_Mutation	C	T	p.G186S
BICR10_UPPER_AERODIGESTIVE_TRACT	10610071	10610756	10610154	10610154	Missense_Mutation	C	T	p.G186S
NCIH661_LUNG	10610071	10610262	10610208	10610208	Missense_Mutation	C	T	p.V168I
NCIH661_LUNG	10610071	10610756	10610208	10610208	Missense_Mutation	C	T	p.V168I
SNU308_BILIARY_TRACT	10610071	10610262	10610227	10610227	Missense_Mutation	C	A	p.M161I
SNU308_BILIARY_TRACT	10610071	10610756	10610227	10610227	Missense_Mutation	C	A	p.M161I
NCIH1573_LUNG	10610071	10610756	10610283	10610283	Missense_Mutation	C	G	p.A143P
CAKI2_KIDNEY	10610071	10610756	10610300	10610300	Missense_Mutation	A	G	p.I137T
NCIH1915_LUNG	10610071	10610756	10610306	10610306	Missense_Mutation	C	A	p.R135L
SNUC4_LARGE_INTESTINE	10610071	10610756	10610311	10610311	Missense_Mutation	C	T	p.M133I
RL952_ENDOMETRIUM	10610071	10610756	10610364	10610364	Missense_Mutation	G	A	p.R116W
HSC2_UPPER_AERODIGESTIVE_TRACT	10610071	10610756	10610505	10610505	Missense_Mutation	C	T	p.E69K
JHH5_LIVER	10610071	10610756	10610511	10610511	Missense_Mutation	T	C	p.M67V
MFE319_ENDOMETRIUM	10610071	10610756	10610516	10610516	Missense_Mutation	C	T	p.G65D
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10610071	10610756	10610523	10610523	Missense_Mutation	C	T	p.A63T
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10610071	10610756	10610561	10610561	Missense_Mutation	C	T	p.R50H
C33A_CERVIX	10610071	10610756	10610573	10610573	Missense_Mutation	T	C	p.Q46R
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10610071	10610756	10610591	10610591	Missense_Mutation	G	A	p.A40V
HEC151_ENDOMETRIUM	10610071	10610756	10610610	10610610	Missense_Mutation	C	A	p.A34S
HEC1_ENDOMETRIUM	10610071	10610756	10610612	10610612	Missense_Mutation	T	C	p.Y33C
PECAPJ15_UPPER_AERODIGESTIVE_TRACT	10610071	10610756	10610621	10610621	Missense_Mutation	G	A	p.A30V
KM12_LARGE_INTESTINE	10610071	10610756	10610622	10610622	Missense_Mutation	C	T	p.A30T
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10610071	10610756	10610644	10610644	Missense_Mutation	C	G	p.Q22H
SNU175_LARGE_INTESTINE	10600324	10600529	10600336	10600336	Nonsense_Mutation	G	A	p.R507*
NCIH838_LUNG	10600324	10600529	10600525	10600525	Nonsense_Mutation	C	A	p.E444*
SNU475_LIVER	10610071	10610756	10610421	10610421	Nonsense_Mutation	T	A	p.K97*
NCIH1355_LUNG	10610071	10610756	10610487	10610487	Nonsense_Mutation	G	A	p.Q75*
SNU423_LIVER	10599868	10600044	10600043	10600043	Splice_Site	G	T	p.G511G
NCIH1688_LUNG	10600324	10600529	10600324	10600324	Splice_Site	C	T	p.G511S

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KEAP1

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_314937	19	10602935:10602938:10610070:10610262:10613916:10614234	10610070:10610262	ENST00000585845.1	THCA	rs1048287	chr19:10610236	A/G	2.49e-04
exon_skip_314938	19	10602935:10602938:10610070:10610756:10613372:10613572	10610070:10610756	ENST00000393623.2	THCA	rs1048287	chr19:10610236	A/G	2.49e-04

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KEAP1

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KEAP1

Top

RelatedDrugs for KEAP1

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
	Q14145	DB08908	Dimethyl fumarate	Kelch-like ECH-associated protein 1	small molecule	approved\|investigational

Top

RelatedDiseases for KEAP1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
KEAP1	C0007131	Non-Small Cell Lung Carcinoma	1	CTD_human
KEAP1	C0007134	Renal Cell Carcinoma	1	CTD_human
KEAP1	C0016978	gallbladder neoplasm	1	CTD_human
KEAP1	C0017178	Gastrointestinal Diseases	1	CTD_human
KEAP1	C0019158	Hepatitis	1	CTD_human
KEAP1	C0022593	Keratosis	1	CTD_human
KEAP1	C0033578	Prostatic Neoplasms	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

Home

Download

Statistics

Landscape

Help

Contact