ExonSkipAD: 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	20200327
	UniProtAcc	A0A024R7C0, K7EJ49, K7EJD8, K7EMY1, K7EPZ3, K7EQX2, K7ESE0, Q14145,
	Context

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:0006511	ubiquitin-dependent protein catabolic process	15601839
KEAP1	GO:0010506	regulation of autophagy	20452972
KEAP1	GO:0016567	protein ubiquitination	15601839\|15983046
KEAP1	GO:0034599	cellular response to oxidative stress	15601839

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Gene structures and expression levels for KEAP1

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000079999

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
CB	DOWN	ENST00000592478.5	KEAP1-210:protein_coding:KEAP1	3.093791e+02	-1.054248e+00	3.709818e-07	6.450086e-06

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KEAP1

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_103211	chr19	10489192:10489368:10489648:10489853:10491577:10491600	10489648:10489853
exon_skip_147652	chr19	10486718:10486818:10489192:10489368:10489648:10489853	10489192:10489368
exon_skip_263877	chr19	10492064:10492262:10499395:10500080:10503241:10503356	10499395:10500080
exon_skip_284301	chr19	10492064:10492262:10499395:10499586:10503241:10503558	10499395:10499586
exon_skip_3530	chr19	10492064:10492262:10492573:10492717:10499395:10499509	10492573:10492717
exon_skip_96494	chr19	10491947:10492262:10492573:10492717:10499395:10499509	10492573:10492717

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000171111	10489192	10489368	In-frame
ENST00000393623	10489192	10489368	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000171111	10489192	10489368	In-frame
ENST00000393623	10489192	10489368	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000171111	10499395	10500080	3UTR-3CDS
ENST00000171111	10489648	10489853	Frame-shift
ENST00000393623	10489648	10489853	Frame-shift
ENST00000171111	10489192	10489368	In-frame
ENST00000393623	10489192	10489368	In-frame

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

p-ENSG00000079999_img4.png
boxplot

Loci of skipped exons in ROSMAP 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	10489192	10489368	2080	2255	510	569
ENST00000393623	2665	624	10489192	10489368	1779	1954	510	569

Loci of skipped exons in MSBB 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	10489192	10489368	2080	2255	510	569
ENST00000393623	2665	624	10489192	10489368	1779	1954	510	569

Loci of skipped exons in Mayo 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	10489192	10489368	2080	2255	510	569
ENST00000393623	2665	624	10489192	10489368	1779	1954	510	569

Lost protein functional features of individual exon skipping events in ROSMAP.

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 MSBB.

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 Mayo.

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

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3'-UTR located exon skipping events that lost miRNA binding sites in KEAP1

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for KEAP1

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for KEAP1

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for KEAP1

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for KEAP1

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Q14145	approved\|investigational	DB08908	Dimethyl fumarate	small molecule	Q14145

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RelatedDiseases for KEAP1

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for KEAP1

Gene structures and expression levels for KEAP1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KEAP1

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

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

3'-UTR located exon skipping events that lost miRNA binding sites in KEAP1

SNVs in the skipped exons for KEAP1

AD stage-associated exon skippint events for KEAP1

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

Correlation with RNA binding proteins (RBPs) for KEAP1

RelatedDrugs for KEAP1

RelatedDiseases for KEAP1