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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:NTRK3-CAMTA1 (FusionGDB2 ID:HG4916TG23261)

Fusion Gene Summary for NTRK3-CAMTA1

check button Fusion gene summary
Fusion gene informationFusion gene name: NTRK3-CAMTA1
Fusion gene ID: hg4916tg23261
HgeneTgene
Gene symbol

NTRK3

CAMTA1

Gene ID

4916

23261

Gene nameneurotrophic receptor tyrosine kinase 3calmodulin binding transcription activator 1
SynonymsGP145-TrkC|TRKC|gp145(trkC)CANPMR
Cytomap('NTRK3')('CAMTA1')

15q25.3

1p36.31-p36.23

Type of geneprotein-codingprotein-coding
DescriptionNT-3 growth factor receptorETS related protein-neurotrophic receptor tyrosine kinase fusion proteinETV6-NTRK3 fusionneurotrophic tyrosine kinase, receptor, type 3tyrosine kinase receptor Ccalmodulin-binding transcription activator 1
Modification date2020031320200315
UniProtAcc

Q16288

.
Ensembl transtripts involved in fusion geneENST00000317501, ENST00000355254, 
ENST00000357724, ENST00000360948, 
ENST00000394480, ENST00000540489, 
ENST00000542733, ENST00000557856, 
ENST00000558676, ENST00000558306, 
Fusion gene scores* DoF score12 X 15 X 5=90021 X 19 X 8=3192
# samples 1724
** MAII scorelog2(17/900*10)=-2.40439025507934
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(24/3192*10)=-3.73335434061383
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NTRK3 [Title/Abstract] AND CAMTA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNTRK3(88576088)-CAMTA1(6947714), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneNTRK3

GO:0000187

activation of MAPK activity

23027130

HgeneNTRK3

GO:0001933

negative regulation of protein phosphorylation

23027130

HgeneNTRK3

GO:0007169

transmembrane receptor protein tyrosine kinase signaling pathway

23027130

HgeneNTRK3

GO:0008284

positive regulation of cell proliferation

23027130

HgeneNTRK3

GO:0010628

positive regulation of gene expression

23027130

HgeneNTRK3

GO:0030335

positive regulation of cell migration

23027130

HgeneNTRK3

GO:0032148

activation of protein kinase B activity

23027130

HgeneNTRK3

GO:0033138

positive regulation of peptidyl-serine phosphorylation

23027130

HgeneNTRK3

GO:0050927

positive regulation of positive chemotaxis

23027130

HgeneNTRK3

GO:0090630

activation of GTPase activity

23027130

HgeneNTRK3

GO:2000251

positive regulation of actin cytoskeleton reorganization

23027130



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4GBMTCGA-27-2526-01ANTRK3chr15

88576088

-CAMTA1chr1

6947714

+


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Fusion Gene ORF analysis for NTRK3-CAMTA1

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-3UTRENST00000317501ENST00000476163NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000317501ENST00000557126NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000355254ENST00000476163NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000355254ENST00000557126NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000357724ENST00000476163NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000357724ENST00000557126NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000360948ENST00000476163NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000360948ENST00000557126NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000394480ENST00000476163NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000394480ENST00000557126NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000540489ENST00000476163NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000540489ENST00000557126NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000542733ENST00000476163NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000542733ENST00000557126NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000557856ENST00000476163NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000557856ENST00000557126NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000558676ENST00000476163NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-3UTRENST00000558676ENST00000557126NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000317501ENST00000303635NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000317501ENST00000439411NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000317501ENST00000467404NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000317501ENST00000473578NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000317501ENST00000476864NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000355254ENST00000303635NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000355254ENST00000439411NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000355254ENST00000467404NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000355254ENST00000473578NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000355254ENST00000476864NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000357724ENST00000303635NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000357724ENST00000439411NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000357724ENST00000467404NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000357724ENST00000473578NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000357724ENST00000476864NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000360948ENST00000303635NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000360948ENST00000439411NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000360948ENST00000467404NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000360948ENST00000473578NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000360948ENST00000476864NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000394480ENST00000303635NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000394480ENST00000439411NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000394480ENST00000467404NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000394480ENST00000473578NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000394480ENST00000476864NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000540489ENST00000303635NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000540489ENST00000439411NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000540489ENST00000467404NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000540489ENST00000473578NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000540489ENST00000476864NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000542733ENST00000303635NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000542733ENST00000439411NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000542733ENST00000467404NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000542733ENST00000473578NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000542733ENST00000476864NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000557856ENST00000303635NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000557856ENST00000439411NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000557856ENST00000467404NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000557856ENST00000473578NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000557856ENST00000476864NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000558676ENST00000303635NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000558676ENST00000439411NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000558676ENST00000467404NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000558676ENST00000473578NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5CDS-intronENST00000558676ENST00000476864NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5UTR-3UTRENST00000558306ENST00000476163NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5UTR-3UTRENST00000558306ENST00000557126NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5UTR-intronENST00000558306ENST00000303635NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5UTR-intronENST00000558306ENST00000439411NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5UTR-intronENST00000558306ENST00000467404NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5UTR-intronENST00000558306ENST00000473578NTRK3chr15

88576088

-CAMTA1chr1

6947714

+
5UTR-intronENST00000558306ENST00000476864NTRK3chr15

88576088

-CAMTA1chr1

6947714

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for NTRK3-CAMTA1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
NTRK3chr1588576087-CAMTA1chr16947713+0.947198750.052801274
NTRK3chr1588576087-CAMTA1chr16947713+0.947198750.052801274


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for NTRK3-CAMTA1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:88576088/:6947714)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NTRK3

Q16288

.
FUNCTION: Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways, including the phosphatidylinositol 3-kinase/AKT and the MAPK pathways, that control cell survival and differentiation. {ECO:0000269|PubMed:25196463}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for NTRK3-CAMTA1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for NTRK3-CAMTA1


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


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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Related Drugs for NTRK3-CAMTA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneNTRK3Q16288DB11986EntrectinibInhibitorSmall moleculeApproved|Investigational
HgeneNTRK3Q16288DB11986EntrectinibInhibitorSmall moleculeApproved|Investigational
HgeneNTRK3Q16288DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneNTRK3Q16288DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneNTRK3Q16288DB14723LarotrectinibInhibitorSmall moleculeApproved|Investigational
HgeneNTRK3Q16288DB14723LarotrectinibInhibitorSmall moleculeApproved|Investigational
HgeneNTRK3Q16288DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
HgeneNTRK3Q16288DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for NTRK3-CAMTA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNTRK3C0036341Schizophrenia3PSYGENET
HgeneNTRK3C0041696Unipolar Depression2PSYGENET
HgeneNTRK3C1269683Major Depressive Disorder2PSYGENET
HgeneNTRK3C1332965Congenital Mesoblastic Nephroma2ORPHANET
HgeneNTRK3C0014175Endometriosis1CTD_human
HgeneNTRK3C0017638Glioma1CTD_human
HgeneNTRK3C0019569Hirschsprung Disease1GENOMICS_ENGLAND
HgeneNTRK3C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneNTRK3C0026998Acute Myeloid Leukemia, M11CTD_human
HgeneNTRK3C0038220Status Epilepticus1CTD_human
HgeneNTRK3C0238463Papillary thyroid carcinoma1ORPHANET
HgeneNTRK3C0259783mixed gliomas1CTD_human
HgeneNTRK3C0269102Endometrioma1CTD_human
HgeneNTRK3C0270823Petit mal status1CTD_human
HgeneNTRK3C0311335Grand Mal Status Epilepticus1CTD_human
HgeneNTRK3C0393734Complex Partial Status Epilepticus1CTD_human
HgeneNTRK3C0525045Mood Disorders1PSYGENET
HgeneNTRK3C0555198Malignant Glioma1CTD_human
HgeneNTRK3C0751522Status Epilepticus, Subclinical1CTD_human
HgeneNTRK3C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneNTRK3C0751524Simple Partial Status Epilepticus1CTD_human
HgeneNTRK3C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
TgeneC0206732Epithelioid hemangioendothelioma1ORPHANET
TgeneC3553661CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION1CTD_human;GENOMICS_ENGLAND;ORPHANET