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Fusion gene ID: 25017 |
FusionGeneSummary for NTRK2_LAP3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NTRK2_LAP3 | Fusion gene ID: 25017 | Hgene | Tgene | Gene symbol | NTRK2 | LAP3 | Gene ID | 4915 | 51056 |
| Gene name | neurotrophic receptor tyrosine kinase 2 | leucine aminopeptidase 3 | |
| Synonyms | EIEE58|GP145-TrkB|OBHD|TRKB|trk-B | HEL-S-106|LAP|LAPEP|PEPS | |
| Cytomap | 9q21.33 | 4p15.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | BDNF/NT-3 growth factors receptorBDNF-tropomyosine receptor kinase Bneurotrophic tyrosine kinase receptor type 2tropomyosin-related kinase Btyrosine kinase receptor B | cytosol aminopeptidaseLAP-3epididymis secretory protein Li 106leucyl aminopeptidasepeptidase Sproline aminopeptidaseprolyl aminopeptidase | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q16620 | P28838 | |
| Ensembl transtripts involved in fusion gene | ENST00000376214, ENST00000376213, ENST00000395882, ENST00000304053, ENST00000376208, ENST00000277120, ENST00000323115, ENST00000359847, ENST00000395866, | ENST00000226299, ENST00000606142, ENST00000503467, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 5 X 4 X 5=100 |
| # samples | 4 | 5 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NTRK2 [Title/Abstract] AND LAP3 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | LGG | TCGA-DB-5278-01A | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000376214 | ENST00000226299 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000376214 | ENST00000606142 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-intron | ENST00000376214 | ENST00000503467 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000376213 | ENST00000226299 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000376213 | ENST00000606142 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-intron | ENST00000376213 | ENST00000503467 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| Frame-shift | ENST00000395882 | ENST00000226299 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| Frame-shift | ENST00000395882 | ENST00000606142 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| 5CDS-intron | ENST00000395882 | ENST00000503467 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000304053 | ENST00000226299 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000304053 | ENST00000606142 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-intron | ENST00000304053 | ENST00000503467 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000376208 | ENST00000226299 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000376208 | ENST00000606142 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-intron | ENST00000376208 | ENST00000503467 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000277120 | ENST00000226299 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000277120 | ENST00000606142 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-intron | ENST00000277120 | ENST00000503467 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000323115 | ENST00000226299 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000323115 | ENST00000606142 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-intron | ENST00000323115 | ENST00000503467 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| Frame-shift | ENST00000359847 | ENST00000226299 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| Frame-shift | ENST00000359847 | ENST00000606142 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| 5CDS-intron | ENST00000359847 | ENST00000503467 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000395866 | ENST00000226299 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-3CDS | ENST00000395866 | ENST00000606142 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
| intron-intron | ENST00000395866 | ENST00000503467 | NTRK2 | chr9 | 87430621 | + | LAP3 | chr4 | 17585225 | + |
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FusionProtFeatures for NTRK2_LAP3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NTRK2 | LAP3 |
| Receptor tyrosine kinase involved in the development andthe maturation of the central and the peripheral nervous systemsthrough regulation of neuron survival, proliferation, migration,differentiation, and synapse formation and plasticity. Receptorfor BDNF/brain-derived neurotrophic factor and NTF4/neurotrophin-4. Alternatively can also bind NTF3/neurotrophin-3 which is lessefficient in activating the receptor but regulates neuron survivalthrough NTRK2. Upon ligand-binding, undergoes homodimerization,autophosphorylation and activation. Recruits, phosphorylatesand/or activates several downstream effectors including SHC1,FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlappingsignaling cascades. Through SHC1, FRS2, SH2B1, SH2B2 activates theGRB2-Ras-MAPK cascade that regulates for instance neuronaldifferentiation including neurite outgrowth. Through the sameeffectors controls the Ras-PI3 kinase-AKT1 signaling cascade thatmainly regulates growth and survival. Through PLCG1 and thedownstream protein kinase C-regulated pathways controls synapticplasticity. Thereby, plays a role in learning and memory byregulating both short term synaptic function and long-termpotentiation. PLCG1 also leads to NF-Kappa-B activation and thetranscription of genes involved in cell survival. Hence, it isable to suppress anoikis, the apoptosis resulting from loss ofcell-matrix interactions. May also play a role in neutrophin-dependent calcium signaling in glial cells and mediatecommunication between neurons and glia.{ECO:0000269|PubMed:15494731}. | Presumably involved in the processing and regularturnover of intracellular proteins. Catalyzes the removal ofunsubstituted N-terminal amino acids from various peptides. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for NTRK2_LAP3 |
| 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 NTRK2_LAP3 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| NTRK2 | NTF3, FYN, FRS2, SHC1, PLCG1, BDNF, NTF4, SHC3, GIPC1, SQSTM1, PIK3R1, SH2B1, NCK2, PTPN1, TRAF6, HSP90AA1, POLR2G, AP1B1, NMNAT1, RANBP9, TNK2, EGFR | LAP3 | DDA1, UBA5, TAB1, ISG15, APP, LIG4, AARSD1, AGFG1, ALAD, ARPC2, NIF3L1, OGT, SH3GL1, SH3GLB1, TPRKB, RAPGEF2, RNF2, FUBP1, MIF, PRDX1, PRDX2, TKT, VARS, NTRK1, TP53, NDUFS5, RAB7A, RBM39, ZCCHC17, U2AF2, TES |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NTRK2_LAP3 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | NTRK2 | Q16620 | DB00321 | Amitriptyline | BDNF/NT-3 growth factors receptor | small molecule | approved |
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RelatedDiseases for NTRK2_LAP3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NTRK2 | C0011570 | Mental Depression | 5 | PSYGENET |
| Hgene | NTRK2 | C0011581 | Depressive disorder | 5 | PSYGENET |
| Hgene | NTRK2 | C0041696 | Unipolar Depression | 5 | PSYGENET |
| Hgene | NTRK2 | C0525045 | Mood Disorders | 5 | PSYGENET |
| Hgene | NTRK2 | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
| Hgene | NTRK2 | C0005586 | Bipolar Disorder | 3 | CTD_human;PSYGENET |
| Hgene | NTRK2 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | NTRK2 | C0038220 | Status Epilepticus | 2 | CTD_human |
| Hgene | NTRK2 | C0236736 | Cocaine-Related Disorders | 2 | CTD_human |
| Hgene | NTRK2 | C0424295 | Hyperactive behavior | 2 | CTD_human |
| Hgene | NTRK2 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | NTRK2 | C0004114 | Astrocytoma | 1 | CTD_human |
| Hgene | NTRK2 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | NTRK2 | C0008073 | Developmental Disabilities | 1 | CTD_human |
| Hgene | NTRK2 | C0013415 | Dysthymic Disorder | 1 | PSYGENET |
| Hgene | NTRK2 | C0017638 | Glioma | 1 | CTD_human |
| Hgene | NTRK2 | C0020505 | Hyperphagia | 1 | CTD_human;HPO |
| Hgene | NTRK2 | C0027819 | Neuroblastoma | 1 | CTD_human |
| Hgene | NTRK2 | C0028754 | Obesity | 1 | CTD_human;HPO |
| Hgene | NTRK2 | C0036349 | Paranoid Schizophrenia | 1 | PSYGENET |
| Hgene | NTRK2 | C0678807 | prenatal alcohol exposure | 1 | PSYGENET |
| Hgene | NTRK2 | C0752347 | Lewy Body Disease | 1 | CTD_human |
| Hgene | NTRK2 | C3146244 | Alcohol Related Birth Defect | 1 | PSYGENET |
| Hgene | NTRK2 | C3151303 | Obesity, Hyperphagia, and Developmental Delay | 1 | UNIPROT |
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