ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for KRIT1

Gene summary

Gene information	Gene symbol	KRIT1
	Gene ID	889
	Gene name	KRIT1 ankyrin repeat containing
	Synonyms	CAM\|CCM1
	Cytomap	7q21.2
	Type of gene	protein-coding
	Description	krev interaction trapped protein 1ankyrin repeat-containing protein Krit1cerebral cavernous malformations 1 proteinkrev interaction trapped 1
	Modification date	20200313
	UniProtAcc	A0A0C4DG23, A4D1F7, C9J3W7, C9J718, C9JBN7, C9JD43, C9JD81, C9JEW7, C9JF32, C9JI47, C9JIY2, C9JJM9, C9JSG7, C9JXI9, O00522,
	Context

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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Gene structures and expression levels for KRIT1

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.

ENSG00000285953

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	ENST00000487168.1	KRIT1-223:retained_intron:KRIT1	3.720553e+01	-9.726269e-01	2.950526e-10	1.584373e-08
CB	UP	ENST00000444960.5	KRIT1-213:protein_coding:KRIT1	2.240564e+00	1.090285e+00	5.545490e-05	4.491193e-04
CB	UP	ENST00000458493.5	KRIT1-218:protein_coding:KRIT1	1.174142e+01	8.088698e-01	3.831535e-04	2.301194e-03
CB	DOWN	ENST00000425919.5	KRIT1-209:protein_coding:KRIT1	1.055259e+00	-2.096230e+00	6.048720e-03	2.302053e-02

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 KRIT1

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_178282	chr7	92222822:92222978:92225720:92225827:92226526:92226682	92225720:92225827
exon_skip_189047	chr7	92226526:92226682:92234449:92234592:92234808:92234923	92234449:92234592
exon_skip_45733	chr7	92242034:92242137:92244002:92244149:92244902:92245171	92244002:92244149

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
exon_skip_45733	Mayo_CB	3.253165e-01	4.534375e-01	-1.281210e-01	7.831519e-08

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Open reading frame (ORF) annotation in the exon skipping event for KRIT1

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
ENST00000340022	92244002	92244149	3UTR-3UTR
ENST00000394505	92244002	92244149	3UTR-3UTR
ENST00000394507	92244002	92244149	3UTR-3UTR
ENST00000412043	92244002	92244149	3UTR-3UTR
ENST00000340022	92225720	92225827	In-frame
ENST00000394505	92225720	92225827	In-frame
ENST00000394507	92225720	92225827	In-frame
ENST00000412043	92225720	92225827	In-frame
ENST00000340022	92234449	92234592	In-frame
ENST00000394505	92234449	92234592	In-frame
ENST00000394507	92234449	92234592	In-frame
ENST00000412043	92234449	92234592	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
ENST00000340022	92244002	92244149	3UTR-3UTR
ENST00000394505	92244002	92244149	3UTR-3UTR
ENST00000394507	92244002	92244149	3UTR-3UTR
ENST00000412043	92244002	92244149	3UTR-3UTR
ENST00000340022	92225720	92225827	In-frame
ENST00000394505	92225720	92225827	In-frame
ENST00000394507	92225720	92225827	In-frame
ENST00000412043	92225720	92225827	In-frame
ENST00000340022	92234449	92234592	In-frame
ENST00000394505	92234449	92234592	In-frame
ENST00000394507	92234449	92234592	In-frame
ENST00000412043	92234449	92234592	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
ENST00000340022	92244002	92244149	3UTR-3UTR
ENST00000394505	92244002	92244149	3UTR-3UTR
ENST00000394507	92244002	92244149	3UTR-3UTR
ENST00000412043	92244002	92244149	3UTR-3UTR
ENST00000340022	92225720	92225827	In-frame
ENST00000394505	92225720	92225827	In-frame
ENST00000394507	92225720	92225827	In-frame
ENST00000412043	92225720	92225827	In-frame
ENST00000340022	92234449	92234592	In-frame
ENST00000394505	92234449	92234592	In-frame
ENST00000394507	92234449	92234592	In-frame
ENST00000412043	92234449	92234592	In-frame

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Infer the effects of exon skipping event on protein functional features for KRIT1

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
ENST00000340022	4570	736	92234449	92234592	1865	2007	282	329
ENST00000394505	3160	736	92234449	92234592	1400	1542	282	329
ENST00000394507	4779	736	92234449	92234592	1630	1772	282	329
ENST00000412043	3395	736	92234449	92234592	1635	1777	282	329
ENST00000340022	4570	736	92225720	92225827	2166	2272	382	417
ENST00000394505	3160	736	92225720	92225827	1701	1807	382	417
ENST00000394507	4779	736	92225720	92225827	1931	2037	382	417
ENST00000412043	3395	736	92225720	92225827	1936	2042	382	417

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
ENST00000340022	4570	736	92234449	92234592	1865	2007	282	329
ENST00000394505	3160	736	92234449	92234592	1400	1542	282	329
ENST00000394507	4779	736	92234449	92234592	1630	1772	282	329
ENST00000412043	3395	736	92234449	92234592	1635	1777	282	329
ENST00000340022	4570	736	92225720	92225827	2166	2272	382	417
ENST00000394505	3160	736	92225720	92225827	1701	1807	382	417
ENST00000394507	4779	736	92225720	92225827	1931	2037	382	417
ENST00000412043	3395	736	92225720	92225827	1936	2042	382	417

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
ENST00000340022	4570	736	92234449	92234592	1865	2007	282	329
ENST00000394505	3160	736	92234449	92234592	1400	1542	282	329
ENST00000394507	4779	736	92234449	92234592	1630	1772	282	329
ENST00000412043	3395	736	92234449	92234592	1635	1777	282	329
ENST00000340022	4570	736	92225720	92225827	2166	2272	382	417
ENST00000394505	3160	736	92225720	92225827	1701	1807	382	417
ENST00000394507	4779	736	92225720	92225827	1931	2037	382	417
ENST00000412043	3395	736	92225720	92225827	1936	2042	382	417

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
O00522	282	329	283	330	Alternative sequence	ID=VSP_043327;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O00522	282	329	283	330	Alternative sequence	ID=VSP_043327;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O00522	282	329	283	330	Alternative sequence	ID=VSP_043327;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O00522	282	329	283	330	Alternative sequence	ID=VSP_043327;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O00522	282	329	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	282	329	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	282	329	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	282	329	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	282	329	291	297	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	291	297	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	291	297	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	291	297	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	301	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	301	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	301	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	301	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	324	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	324	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	324	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	324	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	287	316	Repeat	Note=ANK 1;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	287	316	Repeat	Note=ANK 1;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	287	316	Repeat	Note=ANK 1;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	287	316	Repeat	Note=ANK 1;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	320	350	Repeat	Note=ANK 2;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	320	350	Repeat	Note=ANK 2;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	320	350	Repeat	Note=ANK 2;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	320	350	Repeat	Note=ANK 2;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	415	417	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	415	417	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	415	417	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	415	417	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	382	417	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	382	417	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	382	417	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	382	417	392	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	392	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	392	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	392	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	404	412	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	404	412	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	404	412	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	404	412	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	354	383	Repeat	Note=ANK 3;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	354	383	Repeat	Note=ANK 3;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	354	383	Repeat	Note=ANK 3;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	354	383	Repeat	Note=ANK 3;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	388	419	Repeat	Note=ANK 4;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	388	419	Repeat	Note=ANK 4;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	388	419	Repeat	Note=ANK 4;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	388	419	Repeat	Note=ANK 4;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
O00522	282	329	283	330	Alternative sequence	ID=VSP_043327;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O00522	282	329	283	330	Alternative sequence	ID=VSP_043327;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O00522	282	329	283	330	Alternative sequence	ID=VSP_043327;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O00522	282	329	283	330	Alternative sequence	ID=VSP_043327;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O00522	282	329	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	282	329	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	282	329	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	282	329	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	282	329	291	297	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	291	297	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	291	297	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	291	297	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	301	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	301	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	301	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	301	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	324	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	324	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	324	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	324	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	287	316	Repeat	Note=ANK 1;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	287	316	Repeat	Note=ANK 1;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	287	316	Repeat	Note=ANK 1;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	287	316	Repeat	Note=ANK 1;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	320	350	Repeat	Note=ANK 2;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	320	350	Repeat	Note=ANK 2;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	320	350	Repeat	Note=ANK 2;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	320	350	Repeat	Note=ANK 2;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	415	417	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	415	417	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	415	417	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	415	417	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	382	417	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	382	417	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	382	417	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	382	417	392	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	392	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	392	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	392	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	404	412	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	404	412	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	404	412	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	404	412	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	354	383	Repeat	Note=ANK 3;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	354	383	Repeat	Note=ANK 3;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	354	383	Repeat	Note=ANK 3;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	354	383	Repeat	Note=ANK 3;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	388	419	Repeat	Note=ANK 4;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	388	419	Repeat	Note=ANK 4;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	388	419	Repeat	Note=ANK 4;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	388	419	Repeat	Note=ANK 4;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
O00522	282	329	283	330	Alternative sequence	ID=VSP_043327;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O00522	282	329	283	330	Alternative sequence	ID=VSP_043327;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O00522	282	329	283	330	Alternative sequence	ID=VSP_043327;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O00522	282	329	283	330	Alternative sequence	ID=VSP_043327;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O00522	282	329	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	282	329	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	282	329	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	282	329	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	282	329	291	297	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	291	297	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	291	297	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	291	297	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	301	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	301	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	301	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	301	309	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	324	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	324	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	324	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	324	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	282	329	287	316	Repeat	Note=ANK 1;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	287	316	Repeat	Note=ANK 1;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	287	316	Repeat	Note=ANK 1;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	287	316	Repeat	Note=ANK 1;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	320	350	Repeat	Note=ANK 2;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	320	350	Repeat	Note=ANK 2;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	320	350	Repeat	Note=ANK 2;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	282	329	320	350	Repeat	Note=ANK 2;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	415	417	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	415	417	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	415	417	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	415	417	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	382	417	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	382	417	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	382	417	1	736	Chain	ID=PRO_0000067023;Note=Krev interaction trapped protein 1
O00522	382	417	392	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	392	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	392	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	392	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	404	412	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	404	412	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	404	412	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	404	412	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5D68
O00522	382	417	354	383	Repeat	Note=ANK 3;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	354	383	Repeat	Note=ANK 3;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	354	383	Repeat	Note=ANK 3;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	354	383	Repeat	Note=ANK 3;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	388	419	Repeat	Note=ANK 4;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	388	419	Repeat	Note=ANK 4;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	388	419	Repeat	Note=ANK 4;Ontology_term=ECO:0000255;evidence=ECO:0000255
O00522	382	417	388	419	Repeat	Note=ANK 4;Ontology_term=ECO:0000255;evidence=ECO:0000255

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3'-UTR located exon skipping events that lost miRNA binding sites in KRIT1

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
Mayo	ENST00000412043	92244002	92244149	hsa-miR-4251	chr7:92244052-92244059	8mer-1a	chr7:92244040-92244059	154.00	-19.58
Mayo	ENST00000412043	92244002	92244149	hsa-miR-3121-3p	chr7:92244063-92244070	8mer-1a	chr7:92244061-92244082	166.00	-16.05
Mayo	ENST00000412043	92244002	92244149	hsa-miR-8065	chr7:92244017-92244024	8mer-1a	chr7:92244003-92244024	152.00	-14.78
Mayo	ENST00000412043	92244002	92244149	hsa-miR-1253	chr7:92244050-92244057	8mer-1a	chr7:92244038-92244057	156.00	-19.27
Mayo	ENST00000412043	92244002	92244149	hsa-miR-302f	chr7:92244070-92244077	8mer-1a	chr7:92244061-92244082	166.00	-16.05
Mayo	ENST00000412043	92244002	92244149	hsa-miR-4635	chr7:92244102-92244109	8mer-1a	chr7:92244089-92244109	155.00	-17.02
Mayo	ENST00000412043	92244002	92244149	hsa-miR-2053	chr7:92244091-92244098	8mer-1a	chr7:92244089-92244109	155.00	-17.02
MSBB	ENST00000412043	92244002	92244149	hsa-miR-4251	chr7:92244052-92244059	8mer-1a	chr7:92244040-92244059	154.00	-19.58
MSBB	ENST00000412043	92244002	92244149	hsa-miR-3121-3p	chr7:92244063-92244070	8mer-1a	chr7:92244061-92244082	166.00	-16.05
MSBB	ENST00000412043	92244002	92244149	hsa-miR-8065	chr7:92244017-92244024	8mer-1a	chr7:92244003-92244024	152.00	-14.78
MSBB	ENST00000412043	92244002	92244149	hsa-miR-1253	chr7:92244050-92244057	8mer-1a	chr7:92244038-92244057	156.00	-19.27
MSBB	ENST00000412043	92244002	92244149	hsa-miR-302f	chr7:92244070-92244077	8mer-1a	chr7:92244061-92244082	166.00	-16.05
MSBB	ENST00000412043	92244002	92244149	hsa-miR-4635	chr7:92244102-92244109	8mer-1a	chr7:92244089-92244109	155.00	-17.02
MSBB	ENST00000412043	92244002	92244149	hsa-miR-2053	chr7:92244091-92244098	8mer-1a	chr7:92244089-92244109	155.00	-17.02
ROSMAP	ENST00000412043	92244002	92244149	hsa-miR-4251	chr7:92244052-92244059	8mer-1a	chr7:92244040-92244059	154.00	-19.58
ROSMAP	ENST00000412043	92244002	92244149	hsa-miR-3121-3p	chr7:92244063-92244070	8mer-1a	chr7:92244061-92244082	166.00	-16.05
ROSMAP	ENST00000412043	92244002	92244149	hsa-miR-8065	chr7:92244017-92244024	8mer-1a	chr7:92244003-92244024	152.00	-14.78
ROSMAP	ENST00000412043	92244002	92244149	hsa-miR-1253	chr7:92244050-92244057	8mer-1a	chr7:92244038-92244057	156.00	-19.27
ROSMAP	ENST00000412043	92244002	92244149	hsa-miR-302f	chr7:92244070-92244077	8mer-1a	chr7:92244061-92244082	166.00	-16.05
ROSMAP	ENST00000412043	92244002	92244149	hsa-miR-4635	chr7:92244102-92244109	8mer-1a	chr7:92244089-92244109	155.00	-17.02
ROSMAP	ENST00000412043	92244002	92244149	hsa-miR-2053	chr7:92244091-92244098	8mer-1a	chr7:92244089-92244109	155.00	-17.02

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SNVs in the skipped exons for KRIT1

- 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 KRIT1

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 KRIT1

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 KRIT1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	DAZAP1	exon_skip_45733	-4.077266e-01	4.319696e-07
CB	PABPN1	exon_skip_45733	-4.860490e-01	7.566109e-10
HCC	DAZAP1	exon_skip_45733	4.378717e-01	6.919677e-14
HCC	SFPQ	exon_skip_45733	5.353777e-01	3.941910e-21
HCC	TIA1	exon_skip_45733	4.244105e-01	4.683147e-13
HCC	UNK	exon_skip_45733	4.781545e-01	1.331575e-16
HCC	FUBP1	exon_skip_45733	4.187174e-01	1.025229e-12
IFG	ELAVL4	exon_skip_45733	-4.169230e-01	4.268040e-02
IFG	RBM3	exon_skip_45733	4.461425e-01	2.887210e-02
IFG	RC3H1	exon_skip_45733	-4.531203e-01	2.617357e-02
IFG	HNRNPD	exon_skip_45733	-4.968395e-01	1.351799e-02
TC	RBFOX2	exon_skip_45733	-5.738325e-01	8.336960e-14
TC	ELAVL4	exon_skip_45733	-5.766875e-01	5.884283e-14
TC	MATR3	exon_skip_45733	-4.146368e-01	2.895288e-07
TC	RBM24	exon_skip_45733	-5.552848e-01	7.402951e-13
TC	NUP42	exon_skip_45733	-4.322734e-01	7.788869e-08
TC	RALYL	exon_skip_45733	-5.983096e-01	3.754173e-15

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RelatedDrugs for KRIT1

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

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for KRIT1

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 KRIT1

Gene structures and expression levels for KRIT1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KRIT1

Open reading frame (ORF) annotation in the exon skipping event for KRIT1

Infer the effects of exon skipping event on protein functional features for KRIT1

3'-UTR located exon skipping events that lost miRNA binding sites in KRIT1

SNVs in the skipped exons for KRIT1

AD stage-associated exon skippint events for KRIT1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KRIT1

Correlation with RNA binding proteins (RBPs) for KRIT1

RelatedDrugs for KRIT1

RelatedDiseases for KRIT1