ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for PTK2B

Gene summary

Gene information	Gene symbol	PTK2B
	Gene ID	2185
	Gene name	protein tyrosine kinase 2 beta
	Synonyms	CADTK\|CAKB\|FADK2\|FAK2\|PKB\|PTK\|PYK2\|RAFTK
	Cytomap	8p21.2
	Type of gene	protein-coding
	Description	protein-tyrosine kinase 2-betaCAK-betaFADK 2PTK2B protein tyrosine kinase 2 betacalcium-dependent tyrosine kinasecalcium-regulated non-receptor proline-rich tyrosine kinasecell adhesion kinase betafocal adhesion kinase 2proline-rich tyrosine kinas
	Modification date	20200313
	UniProtAcc	C9JHV9, E5RHL2, E5RJ77, E5RK84, H0YB74, Q14289,
	Context	- 27113998(Functional Screening of Alzheimer Risk Loci Identifies PTK2B as an in Vivo Modulator and Early Marker of Tau Pathology)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
PTK2B	GO:0010595	positive regulation of endothelial cell migration	21245381
PTK2B	GO:0018108	peptidyl-tyrosine phosphorylation	7544443
PTK2B	GO:0038083	peptidyl-tyrosine autophosphorylation	9545257\|10518561
PTK2B	GO:0043267	negative regulation of potassium ion transport	7544443
PTK2B	GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	10022914\|10518561\|21245381
PTK2B	GO:2000058	regulation of ubiquitin-dependent protein catabolic process	19880522

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Gene structures and expression levels for PTK2B

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.

ENSG00000120899

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
TC	DOWN	ENST00000420218.3	PTK2B-205:protein_coding:PTK2B	2.578097e+02	-1.147567e+00	3.148059e-03	2.366567e-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 PTK2B

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_136794	chr8	27322408:27322499:27323267:27323426:27325564:27325681	27323267:27323426
exon_skip_146646	chr8	27322402:27322499:27323267:27323426:27325564:27325681	27323267:27323426
exon_skip_152175	chr8	27439309:27439398:27440237:27440441:27442875:27442983	27440237:27440441
exon_skip_168573	chr8	27451485:27451509:27453114:27453160:27454154:27454291	27453114:27453160
exon_skip_169057	chr8	27454154:27454291:27454531:27454611:27458294:27458474	27454531:27454611
exon_skip_174874	chr8	27311629:27311709:27312304:27312387:27313205:27313287	27312304:27312387
exon_skip_200070	chr8	27450749:27450895:27451043:27451078:27451485:27451509	27451043:27451078
exon_skip_225668	chr8	27325564:27325681:27397548:27397788:27419895:27420001	27397548:27397788
exon_skip_229720	chr8	27436251:27436348:27437122:27437206:27437396:27437496	27437122:27437206
exon_skip_237282	chr8	27454154:27454291:27454531:27454611:27458294:27458473	27454531:27454611
exon_skip_238750	chr8	27444211:27444271:27445794:27445919:27450749:27450895	27445794:27445919
exon_skip_25351	chr8	27420657:27420744:27422304:27422383:27430093:27430155	27422304:27422383
exon_skip_285910	chr8	27450775:27450895:27451043:27451078:27451485:27451509	27451043:27451078
exon_skip_36963	chr8	27444206:27444271:27445794:27445919:27450749:27450895	27445794:27445919
exon_skip_79942	chr8	27442875:27442983:27444206:27444271:27445794:27445919	27444206:27444271
exon_skip_82272	chr8	27430093:27430155:27430364:27430418:27430876:27431016	27430364:27430418

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 PTK2B

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
ENST00000346049	27397548	27397788	5CDS-5UTR
ENST00000397501	27397548	27397788	5CDS-5UTR
ENST00000397501	27323267	27323426	5UTR-5UTR
ENST00000346049	27422304	27422383	Frame-shift
ENST00000397501	27422304	27422383	Frame-shift
ENST00000346049	27440237	27440441	Frame-shift
ENST00000397501	27440237	27440441	Frame-shift
ENST00000346049	27444206	27444271	In-frame
ENST00000397501	27444206	27444271	In-frame
ENST00000346049	27445794	27445919	In-frame
ENST00000397501	27445794	27445919	In-frame
ENST00000346049	27451043	27451078	In-frame
ENST00000397501	27451043	27451078	In-frame
ENST00000346049	27454531	27454611	In-frame
ENST00000397501	27454531	27454611	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
ENST00000346049	27397548	27397788	5CDS-5UTR
ENST00000397501	27397548	27397788	5CDS-5UTR
ENST00000397501	27323267	27323426	5UTR-5UTR
ENST00000346049	27445794	27445919	In-frame
ENST00000397501	27445794	27445919	In-frame
ENST00000346049	27451043	27451078	In-frame
ENST00000397501	27451043	27451078	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
ENST00000346049	27397548	27397788	5CDS-5UTR
ENST00000397501	27397548	27397788	5CDS-5UTR
ENST00000397501	27323267	27323426	5UTR-5UTR
ENST00000346049	27422304	27422383	Frame-shift
ENST00000397501	27422304	27422383	Frame-shift
ENST00000346049	27430364	27430418	Frame-shift
ENST00000397501	27430364	27430418	Frame-shift
ENST00000346049	27437122	27437206	Frame-shift
ENST00000397501	27437122	27437206	Frame-shift
ENST00000346049	27440237	27440441	Frame-shift
ENST00000397501	27440237	27440441	Frame-shift
ENST00000346049	27453114	27453160	Frame-shift
ENST00000397501	27453114	27453160	Frame-shift
ENST00000346049	27445794	27445919	In-frame
ENST00000397501	27445794	27445919	In-frame
ENST00000346049	27451043	27451078	In-frame
ENST00000397501	27451043	27451078	In-frame
ENST00000346049	27454531	27454611	In-frame
ENST00000397501	27454531	27454611	In-frame

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Infer the effects of exon skipping event on protein functional features for PTK2B

p-ENSG00000120899_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
ENST00000346049	4164	1009	27444206	27444271	2390	2454	716	738
ENST00000397501	4736	1009	27444206	27444271	2958	3022	716	738
ENST00000346049	4164	1009	27445794	27445919	2456	2580	738	780
ENST00000397501	4736	1009	27445794	27445919	3024	3148	738	780
ENST00000346049	4164	1009	27451043	27451078	2729	2763	829	841
ENST00000397501	4736	1009	27451043	27451078	3297	3331	829	841
ENST00000346049	4164	1009	27454531	27454611	2975	3054	911	938
ENST00000397501	4736	1009	27454531	27454611	3543	3622	911	938

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
ENST00000346049	4164	1009	27445794	27445919	2456	2580	738	780
ENST00000397501	4736	1009	27445794	27445919	3024	3148	738	780
ENST00000346049	4164	1009	27451043	27451078	2729	2763	829	841
ENST00000397501	4736	1009	27451043	27451078	3297	3331	829	841

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
ENST00000346049	4164	1009	27445794	27445919	2456	2580	738	780
ENST00000397501	4736	1009	27445794	27445919	3024	3148	738	780
ENST00000346049	4164	1009	27451043	27451078	2729	2763	829	841
ENST00000397501	4736	1009	27451043	27451078	3297	3331	829	841
ENST00000346049	4164	1009	27454531	27454611	2975	3054	911	938
ENST00000397501	4736	1009	27454531	27454611	3543	3622	911	938

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
Q14289	716	738	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	716	738	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	716	738	702	767	Compositional bias	Note=Pro-rich
Q14289	716	738	702	767	Compositional bias	Note=Pro-rich
Q14289	716	738	722	722	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	716	738	722	722	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	738	780	739	780	Alternative sequence	ID=VSP_004981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9545257;Dbxref=PMID:9545257
Q14289	738	780	739	780	Alternative sequence	ID=VSP_004981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9545257;Dbxref=PMID:9545257
Q14289	738	780	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	738	780	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	738	780	702	767	Compositional bias	Note=Pro-rich
Q14289	738	780	702	767	Compositional bias	Note=Pro-rich
Q14289	738	780	762	762	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	738	780	762	762	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	738	780	765	765	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18691976;Dbxref=PMID:18691976
Q14289	738	780	765	765	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18691976;Dbxref=PMID:18691976
Q14289	738	780	780	780	Sequence conflict	Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14289	738	780	780	780	Sequence conflict	Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14289	829	841	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	829	841	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	829	841	831	869	Compositional bias	Note=Pro-rich
Q14289	829	841	831	869	Compositional bias	Note=Pro-rich
Q14289	829	841	834	834	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	829	841	834	834	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	829	841	839	839	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
Q14289	829	841	839	839	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
Q14289	829	841	838	838	Natural variant	ID=VAR_020284;Note=K->T;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:19369195,ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs751019,PMID:19369195,PMID:17344846
Q14289	829	841	838	838	Natural variant	ID=VAR_020284;Note=K->T;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:19369195,ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs751019,PMID:19369195,PMID:17344846
Q14289	829	841	801	1009	Region	Note=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14289	829	841	801	1009	Region	Note=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14289	911	938	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	911	938	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	911	938	906	927	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4XEK
Q14289	911	938	906	927	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4XEK
Q14289	911	938	928	930	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4XEK
Q14289	911	938	928	930	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4XEK
Q14289	911	938	933	962	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4XEK
Q14289	911	938	933	962	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4XEK
Q14289	911	938	801	1009	Region	Note=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14289	911	938	801	1009	Region	Note=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14289	911	938	868	1009	Region	Note=Focal adhesion targeting (FAT)
Q14289	911	938	868	1009	Region	Note=Focal adhesion targeting (FAT)

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
Q14289	738	780	739	780	Alternative sequence	ID=VSP_004981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9545257;Dbxref=PMID:9545257
Q14289	738	780	739	780	Alternative sequence	ID=VSP_004981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9545257;Dbxref=PMID:9545257
Q14289	738	780	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	738	780	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	738	780	702	767	Compositional bias	Note=Pro-rich
Q14289	738	780	702	767	Compositional bias	Note=Pro-rich
Q14289	738	780	762	762	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	738	780	762	762	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	738	780	765	765	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18691976;Dbxref=PMID:18691976
Q14289	738	780	765	765	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18691976;Dbxref=PMID:18691976
Q14289	738	780	780	780	Sequence conflict	Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14289	738	780	780	780	Sequence conflict	Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14289	829	841	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	829	841	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	829	841	831	869	Compositional bias	Note=Pro-rich
Q14289	829	841	831	869	Compositional bias	Note=Pro-rich
Q14289	829	841	834	834	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	829	841	834	834	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	829	841	839	839	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
Q14289	829	841	839	839	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
Q14289	829	841	838	838	Natural variant	ID=VAR_020284;Note=K->T;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:19369195,ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs751019,PMID:19369195,PMID:17344846
Q14289	829	841	838	838	Natural variant	ID=VAR_020284;Note=K->T;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:19369195,ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs751019,PMID:19369195,PMID:17344846
Q14289	829	841	801	1009	Region	Note=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14289	829	841	801	1009	Region	Note=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q14289	738	780	739	780	Alternative sequence	ID=VSP_004981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9545257;Dbxref=PMID:9545257
Q14289	738	780	739	780	Alternative sequence	ID=VSP_004981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9545257;Dbxref=PMID:9545257
Q14289	738	780	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	738	780	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	738	780	702	767	Compositional bias	Note=Pro-rich
Q14289	738	780	702	767	Compositional bias	Note=Pro-rich
Q14289	738	780	762	762	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	738	780	762	762	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	738	780	765	765	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18691976;Dbxref=PMID:18691976
Q14289	738	780	765	765	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18691976;Dbxref=PMID:18691976
Q14289	738	780	780	780	Sequence conflict	Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14289	738	780	780	780	Sequence conflict	Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14289	829	841	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	829	841	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	829	841	831	869	Compositional bias	Note=Pro-rich
Q14289	829	841	831	869	Compositional bias	Note=Pro-rich
Q14289	829	841	834	834	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	829	841	834	834	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
Q14289	829	841	839	839	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
Q14289	829	841	839	839	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
Q14289	829	841	838	838	Natural variant	ID=VAR_020284;Note=K->T;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:19369195,ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs751019,PMID:19369195,PMID:17344846
Q14289	829	841	838	838	Natural variant	ID=VAR_020284;Note=K->T;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:19369195,ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs751019,PMID:19369195,PMID:17344846
Q14289	829	841	801	1009	Region	Note=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14289	829	841	801	1009	Region	Note=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14289	911	938	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	911	938	1	1009	Chain	ID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289	911	938	906	927	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4XEK
Q14289	911	938	906	927	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4XEK
Q14289	911	938	928	930	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4XEK
Q14289	911	938	928	930	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4XEK
Q14289	911	938	933	962	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4XEK
Q14289	911	938	933	962	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4XEK
Q14289	911	938	801	1009	Region	Note=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14289	911	938	801	1009	Region	Note=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14289	911	938	868	1009	Region	Note=Focal adhesion targeting (FAT)
Q14289	911	938	868	1009	Region	Note=Focal adhesion targeting (FAT)

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3'-UTR located exon skipping events that lost miRNA binding sites in PTK2B

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 PTK2B

- 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 PTK2B

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

CDR

MSBB

IFG

exon_skip_36963

-4.475328e-01

1.694137e-02

chr8

27444206

27444271

27445794

27445919

27450749

27450895

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTK2B

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
CB	exon_skip_285910	rs748282	chr8:27459463	3.628112e-22	2.926401e-18
CB	exon_skip_285910	rs2280375	chr8:27459820	3.628112e-22	2.926401e-18
CB	exon_skip_285910	rs2251430	chr8:27451332	9.502443e-20	5.277252e-16
CB	exon_skip_285910	rs3757908	chr8:27411233	1.028442e-18	4.977187e-15
CB	exon_skip_285910	rs11775958	chr8:27412367	1.028442e-18	4.977187e-15
CB	exon_skip_285910	rs2565061	chr8:27467327	1.149403e-17	4.992062e-14
CB	exon_skip_285910	rs7000615	chr8:27405916	4.610130e-16	1.432811e-12
CB	exon_skip_285910	rs7834529	chr8:27353816	1.921933e-04	2.892444e-02
HCC	exon_skip_200070	rs2251430	chr8:27451332	9.016465e-31	5.881883e-27
HCC	exon_skip_200070	rs10100812	chr8:27456371	9.016465e-31	5.881883e-27
HCC	exon_skip_200070	rs748282	chr8:27459463	9.016465e-31	5.881883e-27
HCC	exon_skip_200070	rs2280375	chr8:27459820	9.016465e-31	5.881883e-27
HCC	exon_skip_200070	rs3757908	chr8:27411233	1.599142e-21	2.508959e-18
HCC	exon_skip_200070	rs4733056	chr8:27412055	1.599142e-21	2.508959e-18
HCC	exon_skip_200070	rs11775958	chr8:27412367	1.599142e-21	2.508959e-18
HCC	exon_skip_200070	rs748281	chr8:27459526	1.857798e-21	2.902528e-18
HCC	exon_skip_200070	rs4733057	chr8:27412130	3.514624e-21	5.356042e-18
HCC	exon_skip_200070	rs3779632	chr8:27406593	4.070639e-21	6.152936e-18
HCC	exon_skip_200070	rs2565061	chr8:27467327	4.861219e-19	5.985400e-16
HCC	exon_skip_200070	rs2099166	chr8:27467674	4.861219e-19	5.985400e-16
HCC	exon_skip_200070	rs7000615	chr8:27405916	8.214757e-18	8.438030e-15
HCC	exon_skip_200070	rs17057104	chr8:27398797	1.561767e-17	1.526828e-14
HCC	exon_skip_200070	rs11994882	chr8:27404298	1.561767e-17	1.526828e-14
HCC	exon_skip_200070	rs7834529	chr8:27353816	2.418723e-15	1.770424e-12
HCC	exon_skip_200070	rs11776693	chr8:27448642	7.357184e-05	7.054378e-03
HCC	exon_skip_200070	rs752993	chr8:27455292	1.312683e-04	1.150652e-02
HCC	exon_skip_200070	rs891398	chr8:27467305	3.019493e-04	2.270506e-02

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Correlation with RNA binding proteins (RBPs) for PTK2B

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
IFG	ELAVL1	exon_skip_200070	-4.119981e-01	2.936914e-02

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RelatedDrugs for PTK2B

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

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Q14289	approved\|investigational	DB01097	Leflunomide	small molecule	Q14289
Q14289	approved\|investigational	DB11817	Baricitinib	small molecule	Q14289
Q14289	approved\|investigational	DB12010	Fostamatinib	small molecule	Q14289

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RelatedDiseases for PTK2B

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 PTK2B

Gene structures and expression levels for PTK2B

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PTK2B

Open reading frame (ORF) annotation in the exon skipping event for PTK2B

Infer the effects of exon skipping event on protein functional features for PTK2B

3'-UTR located exon skipping events that lost miRNA binding sites in PTK2B

SNVs in the skipped exons for PTK2B

AD stage-associated exon skippint events for PTK2B

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTK2B

Correlation with RNA binding proteins (RBPs) for PTK2B

RelatedDrugs for PTK2B

RelatedDiseases for PTK2B