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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for PTK2B

check button Gene summary
Gene informationGene symbol

PTK2B

Gene ID

2185

Gene nameprotein tyrosine kinase 2 beta
SynonymsCADTK|CAKB|FADK2|FAK2|PKB|PTK|PYK2|RAFTK
Cytomap

8p21.2

Type of geneprotein-coding
Descriptionprotein-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 date20180523
UniProtAcc

Q14289

ContextPubMed: PTK2B [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed 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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Exon skipping events across known transcript of Ensembl for PTK2B from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for PTK2B

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for PTK2B

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_482386827169145:27169226:27169820:27169904:27170721:2717080427169820:27169904ENSG00000120899.13ENST00000544172.1,ENST00000519650.1,ENST00000338238.4
exon_skip_482389827179918:27180016:27180783:27180943:27183080:2718319827180783:27180943ENSG00000120899.13ENST00000338238.4,ENST00000397501.1
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENSG00000120899.13ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1
exon_skip_482392827278173:27278261:27279820:27279900:27287609:2728767227279820:27279900ENSG00000120899.13ENST00000412793.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1
exon_skip_482394827288914:27288989:27289776:27289878:27290951:2729103027289776:27289878ENSG00000120899.13ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000519512.1,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4
exon_skip_482395827289776:27289878:27290951:27291030:27291609:2729164927290951:27291030ENSG00000120899.13ENST00000519512.1
exon_skip_482396827289776:27289878:27290951:27291069:27291609:2729164927290951:27291069ENSG00000120899.13ENST00000420218.2,ENST00000544172.1,ENST00000461615.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4
exon_skip_482397827293259:27293310:27293767:27293865:27294638:2729472327293767:27293865ENSG00000120899.13ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4
exon_skip_482399827293767:27293865:27294638:27294723:27294912:2729501327294638:27294723ENSG00000120899.13ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4
exon_skip_482401827296825:27296915:27297753:27297958:27300391:2730050027297753:27297958ENSG00000120899.13ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4
exon_skip_482403827301722:27301788:27303310:27303436:27308265:2730841227303310:27303436ENSG00000120899.13ENST00000544172.1,ENST00000346049.5,ENST00000397501.1
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENSG00000120899.13ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4
exon_skip_482406827311670:27311808:27312047:27312128:27315810:2731599127312047:27312128ENSG00000120899.13ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for PTK2B

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_482386827169145:27169226:27169820:27169904:27170721:2717080427169820:27169904ENSG00000120899.13ENST00000338238.4,ENST00000544172.1,ENST00000519650.1
exon_skip_482389827179918:27180016:27180783:27180943:27183080:2718319827180783:27180943ENSG00000120899.13ENST00000397501.1,ENST00000338238.4
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENSG00000120899.13ENST00000397501.1,ENST00000338238.4,ENST00000544172.1,ENST00000521164.1,ENST00000346049.5,ENST00000420218.2
exon_skip_482392827278173:27278261:27279820:27279900:27287609:2728767227279820:27279900ENSG00000120899.13ENST00000397501.1,ENST00000338238.4,ENST00000544172.1,ENST00000346049.5,ENST00000420218.2,ENST00000412793.1,ENST00000517339.1
exon_skip_482394827288914:27288989:27289776:27289878:27290951:2729103027289776:27289878ENSG00000120899.13ENST00000397501.1,ENST00000338238.4,ENST00000544172.1,ENST00000346049.5,ENST00000420218.2,ENST00000517339.1,ENST00000519512.1,ENST00000397497.4
exon_skip_482395827289776:27289878:27290951:27291030:27291609:2729164927290951:27291030ENSG00000120899.13ENST00000519512.1
exon_skip_482396827289776:27289878:27290951:27291069:27291609:2729164927290951:27291069ENSG00000120899.13ENST00000397501.1,ENST00000338238.4,ENST00000544172.1,ENST00000346049.5,ENST00000420218.2,ENST00000517339.1,ENST00000397497.4,ENST00000461615.1
exon_skip_482397827293259:27293310:27293767:27293865:27294638:2729472327293767:27293865ENSG00000120899.13ENST00000397501.1,ENST00000338238.4,ENST00000544172.1,ENST00000346049.5,ENST00000420218.2,ENST00000517339.1,ENST00000397497.4
exon_skip_482399827293767:27293865:27294638:27294723:27294912:2729501327294638:27294723ENSG00000120899.13ENST00000397501.1,ENST00000338238.4,ENST00000544172.1,ENST00000346049.5,ENST00000420218.2,ENST00000517339.1,ENST00000397497.4
exon_skip_482401827296825:27296915:27297753:27297958:27300391:2730050027297753:27297958ENSG00000120899.13ENST00000397501.1,ENST00000338238.4,ENST00000544172.1,ENST00000346049.5,ENST00000420218.2,ENST00000517339.1,ENST00000397497.4
exon_skip_482403827301722:27301788:27303310:27303436:27308265:2730841227303310:27303436ENSG00000120899.13ENST00000397501.1,ENST00000544172.1,ENST00000346049.5
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENSG00000120899.13ENST00000397501.1,ENST00000338238.4,ENST00000544172.1,ENST00000346049.5,ENST00000420218.2,ENST00000517339.1,ENST00000397497.4
exon_skip_482406827311670:27311808:27312047:27312128:27315810:2731599127312047:27312128ENSG00000120899.13ENST00000397501.1,ENST00000338238.4,ENST00000544172.1,ENST00000346049.5,ENST00000420218.2,ENST00000517339.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000034604927255064272553055CDS-5UTR
ENST0000039750127255064272553055CDS-5UTR
ENST0000039750127180783271809435UTR-5UTR
ENST000003460492727982027279900Frame-shift
ENST000003975012727982027279900Frame-shift
ENST000003460492729095127291069Frame-shift
ENST000003975012729095127291069Frame-shift
ENST000003460492729376727293865Frame-shift
ENST000003975012729376727293865Frame-shift
ENST000003460492729463827294723Frame-shift
ENST000003975012729463827294723Frame-shift
ENST000003460492729775327297958Frame-shift
ENST000003975012729775327297958Frame-shift
ENST000003460492728977627289878In-frame
ENST000003975012728977627289878In-frame
ENST000003460492730331027303436In-frame
ENST000003975012730331027303436In-frame
ENST000003460492730855927308595In-frame
ENST000003975012730855927308595In-frame
ENST000003460492731204727312128In-frame
ENST000003975012731204727312128In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000034604927255064272553055CDS-5UTR
ENST0000039750127255064272553055CDS-5UTR
ENST0000039750127180783271809435UTR-5UTR
ENST000003460492727982027279900Frame-shift
ENST000003975012727982027279900Frame-shift
ENST000003460492729095127291069Frame-shift
ENST000003975012729095127291069Frame-shift
ENST000003460492729376727293865Frame-shift
ENST000003975012729376727293865Frame-shift
ENST000003460492729463827294723Frame-shift
ENST000003975012729463827294723Frame-shift
ENST000003460492729775327297958Frame-shift
ENST000003975012729775327297958Frame-shift
ENST000003460492728977627289878In-frame
ENST000003975012728977627289878In-frame
ENST000003460492730331027303436In-frame
ENST000003975012730331027303436In-frame
ENST000003460492730855927308595In-frame
ENST000003975012730855927308595In-frame
ENST000003460492731204727312128In-frame
ENST000003975012731204727312128In-frame

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

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000034604941641009272897762728987811261227295329
ENST0000039750147321009272897762728987816941795295329
ENST0000034604941641009273033102730343624552580738780
ENST0000039750147321009273033102730343630233148738780
ENST0000034604941641009273085592730859527282763829841
ENST0000039750147321009273085592730859532963331829841
ENST0000034604941641009273120472731212829743054911938
ENST0000039750147321009273120472731212835423622911938

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000034604941641009272897762728987811261227295329
ENST0000039750147321009272897762728987816941795295329
ENST0000034604941641009273033102730343624552580738780
ENST0000039750147321009273033102730343630233148738780
ENST0000034604941641009273085592730859527282763829841
ENST0000039750147321009273085592730859532963331829841
ENST0000034604941641009273120472731212829743054911938
ENST0000039750147321009273120472731212835423622911938

check button 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 featureDescription of feature
Q14289295329297300Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329297300Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329310313Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329310313Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329317322Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329317322Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q1428929532911009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q1428929532911009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q1428929532939359DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
Q1428929532939359DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
Q14289295329302304HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329302304HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329314316TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329314316TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289738780739780Alternative sequenceID=VSP_004981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9545257;Dbxref=PMID:9545257
Q14289738780739780Alternative sequenceID=VSP_004981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9545257;Dbxref=PMID:9545257
Q1428973878011009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q1428973878011009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289738780702767Compositional biasNote=Pro-rich
Q14289738780702767Compositional biasNote=Pro-rich
Q14289738780762762Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
Q14289738780762762Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
Q14289738780765765Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18691976;Dbxref=PMID:18691976
Q14289738780765765Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18691976;Dbxref=PMID:18691976
Q14289738780780780Sequence conflictNote=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14289738780780780Sequence conflictNote=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q1428982984111009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q1428982984111009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289829841831869Compositional biasNote=Pro-rich
Q14289829841831869Compositional biasNote=Pro-rich
Q14289829841834834Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
Q14289829841834834Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
Q14289829841839839Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
Q14289829841839839Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
Q14289829841838838Natural variantID=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
Q14289829841838838Natural variantID=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
Q142898298418011009RegionNote=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q142898298418011009RegionNote=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q1428991193811009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q1428991193811009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289911938906927HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XEK
Q14289911938906927HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XEK
Q14289911938928930HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XEK
Q14289911938928930HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XEK
Q14289911938933962HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XEK
Q14289911938933962HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XEK
Q142899119388011009RegionNote=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q142899119388011009RegionNote=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q142899119388681009RegionNote=Focal adhesion targeting (FAT)
Q142899119388681009RegionNote=Focal adhesion targeting (FAT)


check button 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 featureDescription of feature
Q14289295329297300Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329297300Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329310313Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329310313Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329317322Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329317322Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q1428929532911009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q1428929532911009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q1428929532939359DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
Q1428929532939359DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
Q14289295329302304HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329302304HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329314316TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289295329314316TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EKU
Q14289738780739780Alternative sequenceID=VSP_004981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9545257;Dbxref=PMID:9545257
Q14289738780739780Alternative sequenceID=VSP_004981;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9545257;Dbxref=PMID:9545257
Q1428973878011009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q1428973878011009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289738780702767Compositional biasNote=Pro-rich
Q14289738780702767Compositional biasNote=Pro-rich
Q14289738780762762Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
Q14289738780762762Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
Q14289738780765765Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18691976;Dbxref=PMID:18691976
Q14289738780765765Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18691976;Dbxref=PMID:18691976
Q14289738780780780Sequence conflictNote=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14289738780780780Sequence conflictNote=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q1428982984111009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q1428982984111009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289829841831869Compositional biasNote=Pro-rich
Q14289829841831869Compositional biasNote=Pro-rich
Q14289829841834834Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
Q14289829841834834Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
Q14289829841839839Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
Q14289829841839839Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
Q14289829841838838Natural variantID=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
Q14289829841838838Natural variantID=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
Q142898298418011009RegionNote=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q142898298418011009RegionNote=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q1428991193811009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q1428991193811009ChainID=PRO_0000088081;Note=Protein-tyrosine kinase 2-beta
Q14289911938906927HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XEK
Q14289911938906927HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XEK
Q14289911938928930HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XEK
Q14289911938928930HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XEK
Q14289911938933962HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XEK
Q14289911938933962HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XEK
Q142899119388011009RegionNote=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q142899119388011009RegionNote=Interaction with TGFB1I1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q142899119388681009RegionNote=Focal adhesion targeting (FAT)
Q142899119388681009RegionNote=Focal adhesion targeting (FAT)


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SNVs in the skipped exons for PTK2B

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_482392
27279821272799002727987327279873Frame_Shift_DelC-p.A175fs
LIHCTCGA-DD-A39Y-01exon_skip_482392
27279821272799002727989227279892Frame_Shift_DelG-p.L181fs
STADTCGA-BR-A4QL-01exon_skip_482394
27289777272898782728987127289871Frame_Shift_DelC-p.A327fs
COADTCGA-AA-3663-01exon_skip_482397
27293768272938652729382727293827Frame_Shift_DelT-p.G434fs
LIHCTCGA-BC-A5W4-01exon_skip_482391
27255065272553052725527027255270Nonsense_MutationATp.K57*
LIHCTCGA-BC-A5W4-01exon_skip_482391
27255065272553052725527027255270Nonsense_MutationATp.K57X
THYMTCGA-5K-AAAP-01exon_skip_482401
27297754272979582729776827297768Nonsense_MutationGTp.E617X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HCT116_LARGE_INTESTINE27297754272979582729782527297825Frame_Shift_DelG-p.G636fs
EBC1_LUNG27297754272979582729792727297927Frame_Shift_DelC-p.P670fs
TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27255065272553052725512727255127Missense_MutationGTp.S9I
A427_LUNG27255065272553052725515427255154Missense_MutationGTp.R18L
HCC2108_LUNG27255065272553052725525427255254Missense_MutationTAp.N51K
MORCPR_LUNG27255065272553052725525427255254Missense_MutationTAp.N51K
MET2B27255065272553052725525527255255Missense_MutationCTp.P52S
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27279821272799002727984827279848Missense_MutationGAp.A167T
CAS1_CENTRAL_NERVOUS_SYSTEM27279821272799002727988827279888Missense_MutationGTp.C180F
HCC515_LUNG27289777272898782728982027289820Missense_MutationGTp.C310F
BT474_BREAST27290952272910692729097127290971Missense_MutationCTp.S336L
BT474_BREAST27290952272910302729097127290971Missense_MutationCTp.S336L
MET2B27293768272938652729380927293809Missense_MutationCTp.R429C
HMVII_SKIN27293768272938652729384227293842Missense_MutationTGp.Y440D
EW7_BONE27294639272947232729466327294663Missense_MutationGAp.V456I
SISO_CERVIX27297754272979582729775627297756Missense_MutationGAp.V613M
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27297754272979582729775627297756Missense_MutationGAp.V613M
NCIH226_LUNG27297754272979582729782527297825Missense_MutationGAp.G636R
HEC1A_ENDOMETRIUM27297754272979582729784627297846Missense_MutationCTp.R643W
HEC1_ENDOMETRIUM27297754272979582729784627297846Missense_MutationCTp.R643W
HEC1B_ENDOMETRIUM27297754272979582729784627297846Missense_MutationCTp.R643W
LIM1215_LARGE_INTESTINE27312048273121282731206727312067Missense_MutationGAp.R918Q
LU135_LUNG27312048273121282731212127312121Missense_MutationGTp.R936L
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27303311273034362730343527303435Splice_SiteGAp.R780Q

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4GBMrs751019chr8:27308585A/C6.32e-06
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4GBMrs751019chr8:27308585A/C6.32e-06
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4ESCArs751019chr8:27308585A/C5.82e-06
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4ESCArs751019chr8:27308585A/C5.82e-06
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4BRCArs751019chr8:27308585A/C1.40e-08
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4BRCArs751019chr8:27308585A/C1.40e-08
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4LAMLrs751019chr8:27308585A/C1.62e-04
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4LAMLrs751019chr8:27308585A/C1.62e-04
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4LGGrs751019chr8:27308585A/C5.96e-05
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4LGGrs751019chr8:27308585A/C5.98e-05
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4LUADrs751019chr8:27308585A/C1.15e-05
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4LUADrs751019chr8:27308585A/C1.15e-05
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4LUSCrs751019chr8:27308585A/C8.26e-06
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4LUSCrs751019chr8:27308585A/C8.30e-06
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4PAADrs751019chr8:27308585A/C2.11e-08
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4PAADrs751019chr8:27308585A/C2.11e-08
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4PRADrs751019chr8:27308585A/C7.30e-04
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4PRADrs751019chr8:27308585A/C7.30e-04
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4TGCTrs751019chr8:27308585A/C9.96e-04
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4STADrs751019chr8:27308585A/C7.95e-07
exon_skip_482405827308265:27308412:27308559:27308595:27309001:2730902627308559:27308595ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4STADrs751019chr8:27308585A/C7.95e-07
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1BRCArs1128433chr8:27255080C/T1.12e-05
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1BRCArs1128433chr8:27255080C/T1.12e-05
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1BRCArs1045511chr8:27255146C/T1.27e-05
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1BRCArs1045511chr8:27255146C/T1.27e-05
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1LGGrs1045511chr8:27255146C/T3.02e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1LGGrs1045511chr8:27255146C/T3.02e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1LGGrs1045512chr8:27255263A/G3.44e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1LGGrs1045512chr8:27255263A/G3.44e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1LUADrs1045510chr8:27255128T/C1.26e-04
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1LUADrs1045510chr8:27255128T/C1.26e-04
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1LUADrs1128433chr8:27255080C/T2.92e-04
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1LUADrs1128433chr8:27255080C/T2.92e-04
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1LUADrs1045512chr8:27255263A/G5.52e-04
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1LUADrs1045512chr8:27255263A/G5.53e-04
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1LUADrs1045511chr8:27255146C/T2.21e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1LUADrs1045511chr8:27255146C/T2.22e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1PRADrs1045510chr8:27255128T/C6.03e-04
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1PRADrs1045510chr8:27255128T/C6.04e-04
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1PRADrs1045511chr8:27255146C/T1.34e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1PRADrs1045511chr8:27255146C/T1.35e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1PRADrs1128433chr8:27255080C/T2.11e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1PRADrs1128433chr8:27255080C/T2.11e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1STADrs1128433chr8:27255080C/T5.50e-04
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1STADrs1128433chr8:27255080C/T5.50e-04
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1STADrs1045512chr8:27255263A/G9.88e-04
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1STADrs1045512chr8:27255263A/G9.88e-04
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1STADrs1045511chr8:27255146C/T1.52e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1STADrs1045511chr8:27255146C/T1.52e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1STADrs1045510chr8:27255128T/C1.97e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1STADrs1045510chr8:27255128T/C1.97e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1THCArs1128433chr8:27255080C/T1.41e-03
exon_skip_482391827183080:27183198:27255064:27255305:27277411:2727751827255064:27255305ENST00000521164.1,ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000397501.1THCArs1045510chr8:27255128T/C1.79e-03
exon_skip_482397827293259:27293310:27293767:27293865:27294638:2729472327293767:27293865ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4STADrs7005936chr8:27293865C/T4.49e-04
exon_skip_482397827293259:27293310:27293767:27293865:27294638:2729472327293767:27293865ENST00000420218.2,ENST00000544172.1,ENST00000346049.5,ENST00000338238.4,ENST00000517339.1,ENST00000397501.1,ENST00000397497.4STADrs7005936chr8:27293865C/T4.49e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTK2B


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTK2B


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RelatedDrugs for PTK2B

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q14289DB01097LeflunomideProtein-tyrosine kinase 2-betasmall moleculeapproved|investigational
Q14289DB11817BaricitinibProtein-tyrosine kinase 2-betasmall moleculeapproved|investigational
Q14289DB12010FostamatinibProtein-tyrosine kinase 2-betasmall moleculeapproved|investigational

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RelatedDiseases for PTK2B

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
PTK2BC0001973Alcoholic Intoxication, Chronic1PSYGENET
PTK2BC0025202melanoma1CTD_human
PTK2BC0037286Skin Neoplasms1CTD_human
PTK2BC0038220Status Epilepticus1CTD_human