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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 29338

FusionGeneSummary for PTK2B_ICA1L

check button Fusion gene summary
Fusion gene informationFusion gene name: PTK2B_ICA1L
Fusion gene ID: 29338
HgeneTgene
Gene symbol

PTK2B

ICA1L

Gene ID

2185

130026

Gene nameprotein tyrosine kinase 2 betaislet cell autoantigen 1 like
SynonymsCADTK|CAKB|FADK2|FAK2|PKB|PTK|PYK2|RAFTKALS2CR14|ALS2CR15
Cytomap

8p21.2

2q33.2

Type of geneprotein-codingprotein-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 kinasislet cell autoantigen 1-like proteinIca69-related proteinamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15amyotrophic lateral sclerosis 2 chromosomal r
Modification date2018052320180519
UniProtAcc

Q14289

Q8NDH6

Ensembl transtripts involved in fusion geneENST00000544172, ENST00000397501, 
ENST00000338238, ENST00000346049, 
ENST00000420218, ENST00000517339, 
ENST00000519650, ENST00000397497, 
ENST00000392237, ENST00000358299, 
ENST00000425178, ENST00000418208, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 3 X 4=48
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTK2B [Title/Abstract] AND ICA1L [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePTK2B

GO:0010595

positive regulation of endothelial cell migration

21245381

HgenePTK2B

GO:0018108

peptidyl-tyrosine phosphorylation

7544443

HgenePTK2B

GO:0038083

peptidyl-tyrosine autophosphorylation

9545257|10518561

HgenePTK2B

GO:0043267

negative regulation of potassium ion transport

7544443

HgenePTK2B

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

10022914|10518561|21245381

HgenePTK2B

GO:2000058

regulation of ubiquitin-dependent protein catabolic process

19880522


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSKCMTCGA-EE-A3JI-06APTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000544172ENST00000392237PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000544172ENST00000358299PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000544172ENST00000425178PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000544172ENST00000418208PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000397501ENST00000392237PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000397501ENST00000358299PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000397501ENST00000425178PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000397501ENST00000418208PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000338238ENST00000392237PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000338238ENST00000358299PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000338238ENST00000425178PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000338238ENST00000418208PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000346049ENST00000392237PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000346049ENST00000358299PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000346049ENST00000425178PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000346049ENST00000418208PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000420218ENST00000392237PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000420218ENST00000358299PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000420218ENST00000425178PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000420218ENST00000418208PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000517339ENST00000392237PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000517339ENST00000358299PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000517339ENST00000425178PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
5CDS-5UTRENST00000517339ENST00000418208PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
intron-5UTRENST00000519650ENST00000392237PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
intron-5UTRENST00000519650ENST00000358299PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
intron-5UTRENST00000519650ENST00000425178PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
intron-5UTRENST00000519650ENST00000418208PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
intron-5UTRENST00000397497ENST00000392237PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
intron-5UTRENST00000397497ENST00000358299PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
intron-5UTRENST00000397497ENST00000425178PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-
intron-5UTRENST00000397497ENST00000418208PTK2Bchr8

27277590

+ICA1Lchr2

203693739

-

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FusionProtFeatures for PTK2B_ICA1L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTK2B

Q14289

ICA1L

Q8NDH6

Non-receptor protein-tyrosine kinase that regulatesreorganization of the actin cytoskeleton, cell polarization, cellmigration, adhesion, spreading and bone remodeling. Plays a rolein the regulation of the humoral immune response, and is requiredfor normal levels of marginal B-cells in the spleen and normalmigration of splenic B-cells. Required for normal macrophagepolarization and migration towards sites of inflammation.Regulates cytoskeleton rearrangement and cell spreading in T-cells, and contributes to the regulation of T-cell responses.Promotes osteoclastic bone resorption; this requires bothPTK2B/PYK2 and SRC. May inhibit differentiation and activity ofosteoprogenitor cells. Functions in signaling downstream ofintegrin and collagen receptors, immune receptors, G-proteincoupled receptors (GPCR), cytokine, chemokine and growth factorreceptors, and mediates responses to cellular stress. Formsmultisubunit signaling complexes with SRC and SRC family membersupon activation; this leads to the phosphorylation of additionaltyrosine residues, creating binding sites for scaffold proteins,effectors and substrates. Regulates numerous signaling pathways.Promotes activation of phosphatidylinositol 3-kinase and of theAKT1 signaling cascade. Promotes activation of NOS3. Regulatesproduction of the cellular messenger cGMP. Promotes activation ofthe MAP kinase signaling cascade, including activation ofMAPK1/ERK2, MAPK3/ERK1 and MAPK8/JNK1. Promotes activation of Rhofamily GTPases, such as RHOA and RAC1. Recruits the ubiquitinligase MDM2 to P53/TP53 in the nucleus, and thereby regulatesP53/TP53 activity, P53/TP53 ubiquitination and proteasomaldegradation. Acts as a scaffold, binding to both PDPK1 and SRC,thereby allowing SRC to phosphorylate PDPK1 at 'Tyr-9, 'Tyr-373',and 'Tyr-376'. Promotes phosphorylation of NMDA receptors by SRCfamily members, and thereby contributes to the regulation of NMDAreceptor ion channel activity and intracellular Ca(2+) levels. Mayalso regulate potassium ion transport by phosphorylation ofpotassium channel subunits. Phosphorylates SRC; this increases SRCkinase activity. Phosphorylates ASAP1, NPHP1, KCNA2 and SHC1.Promotes phosphorylation of ASAP2, RHOU and PXN; this requiresboth SRC and PTK2/PYK2. {ECO:0000269|PubMed:10022920,ECO:0000269|PubMed:12771146, ECO:0000269|PubMed:12893833,ECO:0000269|PubMed:14585963, ECO:0000269|PubMed:15050747,ECO:0000269|PubMed:15166227, ECO:0000269|PubMed:17634955,ECO:0000269|PubMed:18086875, ECO:0000269|PubMed:18339875,ECO:0000269|PubMed:18587400, ECO:0000269|PubMed:18765415,ECO:0000269|PubMed:19086031, ECO:0000269|PubMed:19207108,ECO:0000269|PubMed:19244237, ECO:0000269|PubMed:19428251,ECO:0000269|PubMed:19648005, ECO:0000269|PubMed:19880522,ECO:0000269|PubMed:20001213, ECO:0000269|PubMed:20381867,ECO:0000269|PubMed:20521079, ECO:0000269|PubMed:21357692,ECO:0000269|PubMed:21533080, ECO:0000269|PubMed:7544443,ECO:0000269|PubMed:8670418, ECO:0000269|PubMed:8849729}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for PTK2B_ICA1L


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PTK2B_ICA1L


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
PTK2BTGFB1I1, CBL, SORBS2, GIT1, GSN, GRIN2A, DLG3, DLG4, PTPN6, SYK, LCK, FYN, PTK2B, JAK3, JAK1, IL7R, PXN, KCNA2, LYN, BCAR1, NEDD9, JAK2, EGFR, SRC, PITPNM3, PITPNM1, PITPNM2, SLC2A1, PRKCD, ASAP2, GNA13, LPXN, ITGB2, TLN1, NPHP1, PTPN12, ITGB3, PTPN11, GRB2, RB1CC1, EWSR1, VAV1, RASA1, ERBB2, SOCS3, MBD2, PTEN, SOCS2, SH3KBP1, PDCD6IP, ALG2, DNM1, GP6, GP1BB, TRAF4, SKAP2, MAPT, HSP90AA1, CBLB, ERBB3, NEDD4L, NEDD4ICA1LKIFC3, PICK1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for PTK2B_ICA1L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePTK2BQ14289DB01097LeflunomideProtein-tyrosine kinase 2-betasmall moleculeapproved|investigational

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RelatedDiseases for PTK2B_ICA1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTK2BC0001973Alcoholic Intoxication, Chronic1PSYGENET
HgenePTK2BC0025202melanoma1CTD_human
HgenePTK2BC0037286Skin Neoplasms1CTD_human
HgenePTK2BC0038220Status Epilepticus1CTD_human