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Fusion gene ID: 25026 |
FusionGeneSummary for NTRK3_SLC8B1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NTRK3_SLC8B1 | Fusion gene ID: 25026 | Hgene | Tgene | Gene symbol | NTRK3 | SLC8B1 | Gene ID | 4916 | 80024 |
| Gene name | neurotrophic receptor tyrosine kinase 3 | solute carrier family 8 member B1 | |
| Synonyms | GP145-TrkC|TRKC|gp145(trkC) | NCKX6|NCLX|SLC24A6 | |
| Cytomap | 15q25.3 | 12q24.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | NT-3 growth factor receptorETS related protein-neurotrophic receptor tyrosine kinase fusion proteinETV6-NTRK3 fusionneurotrophic tyrosine kinase, receptor, type 3tyrosine kinase receptor C | mitochondrial sodium/calcium exchanger proteinNa(+)/K(+)/Ca(2+)-exchange protein 6sodium/calcium exchanger protein, mitochondrialsodium/potassium/calcium exchanger 6, mitochondrialsolute carrier family 24 (sodium/lithium/calcium exchanger), member 6s | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q16288 | Q6J4K2 | |
| Ensembl transtripts involved in fusion gene | ENST00000394480, ENST00000557856, ENST00000357724, ENST00000355254, ENST00000360948, ENST00000542733, ENST00000558676, ENST00000317501, ENST00000558306, ENST00000540489, | ENST00000552014, ENST00000202831, ENST00000546737, ENST00000553238, ENST00000550047, ENST00000549069, | |
| Fusion gene scores | * DoF score | 7 X 7 X 3=147 | 1 X 1 X 1=1 |
| # samples | 11 | 1 | |
| ** MAII score | log2(11/147*10)=-0.418312631311705 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: NTRK3 [Title/Abstract] AND SLC8B1 [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 |
| Hgene | NTRK3 | GO:0000187 | activation of MAPK activity | 23027130 |
| Hgene | NTRK3 | GO:0001933 | negative regulation of protein phosphorylation | 23027130 |
| Hgene | NTRK3 | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | 23027130 |
| Hgene | NTRK3 | GO:0008284 | positive regulation of cell proliferation | 23027130 |
| Hgene | NTRK3 | GO:0010628 | positive regulation of gene expression | 23027130 |
| Hgene | NTRK3 | GO:0030335 | positive regulation of cell migration | 23027130 |
| Hgene | NTRK3 | GO:0032148 | activation of protein kinase B activity | 23027130 |
| Hgene | NTRK3 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 23027130 |
| Hgene | NTRK3 | GO:0050927 | positive regulation of positive chemotaxis | 23027130 |
| Hgene | NTRK3 | GO:0090630 | activation of GTPase activity | 23027130 |
| Hgene | NTRK3 | GO:2000251 | positive regulation of actin cytoskeleton reorganization | 23027130 |
| Tgene | SLC8B1 | GO:0006851 | mitochondrial calcium ion transmembrane transport | 23056385|24898248 |
| Tgene | SLC8B1 | GO:0042593 | glucose homeostasis | 23056385 |
| Tgene | SLC8B1 | GO:0050796 | regulation of insulin secretion | 23056385 |
| Tgene | SLC8B1 | GO:0051560 | mitochondrial calcium ion homeostasis | 24898248 |
| Tgene | SLC8B1 | GO:0099093 | calcium export from the mitochondrion | 24898248 |
| Tgene | SLC8B1 | GO:2001256 | regulation of store-operated calcium entry | 28219928 |
| 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 |
| ChiTaRS3.1 | BF879827 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| * 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-3UTR | ENST00000394480 | ENST00000552014 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000394480 | ENST00000202831 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000394480 | ENST00000546737 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000394480 | ENST00000553238 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000394480 | ENST00000550047 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000394480 | ENST00000549069 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000557856 | ENST00000552014 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000557856 | ENST00000202831 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000557856 | ENST00000546737 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000557856 | ENST00000553238 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000557856 | ENST00000550047 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000557856 | ENST00000549069 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000357724 | ENST00000552014 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000357724 | ENST00000202831 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000357724 | ENST00000546737 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000357724 | ENST00000553238 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000357724 | ENST00000550047 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000357724 | ENST00000549069 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000355254 | ENST00000552014 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000355254 | ENST00000202831 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000355254 | ENST00000546737 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000355254 | ENST00000553238 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000355254 | ENST00000550047 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000355254 | ENST00000549069 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000360948 | ENST00000552014 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000360948 | ENST00000202831 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000360948 | ENST00000546737 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000360948 | ENST00000553238 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000360948 | ENST00000550047 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000360948 | ENST00000549069 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000542733 | ENST00000552014 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000542733 | ENST00000202831 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000542733 | ENST00000546737 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000542733 | ENST00000553238 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000542733 | ENST00000550047 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000542733 | ENST00000549069 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000558676 | ENST00000552014 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000558676 | ENST00000202831 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000558676 | ENST00000546737 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000558676 | ENST00000553238 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000558676 | ENST00000550047 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000558676 | ENST00000549069 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000317501 | ENST00000552014 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000317501 | ENST00000202831 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000317501 | ENST00000546737 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000317501 | ENST00000553238 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000317501 | ENST00000550047 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000317501 | ENST00000549069 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000558306 | ENST00000552014 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000558306 | ENST00000202831 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000558306 | ENST00000546737 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000558306 | ENST00000553238 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000558306 | ENST00000550047 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000558306 | ENST00000549069 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000540489 | ENST00000552014 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000540489 | ENST00000202831 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000540489 | ENST00000546737 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-intron | ENST00000540489 | ENST00000553238 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000540489 | ENST00000550047 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
| intron-3UTR | ENST00000540489 | ENST00000549069 | NTRK3 | chr15 | 88768823 | - | SLC8B1 | chr12 | 113737337 | - |
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FusionProtFeatures for NTRK3_SLC8B1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NTRK3 | SLC8B1 |
| Receptor tyrosine kinase involved in nervous system andprobably heart development. Upon binding of its ligandNTF3/neurotrophin-3, NTRK3 autophosphorylates and activatesdifferent signaling pathways, including the phosphatidylinositol3-kinase/AKT and the MAPK pathways, that control cell survival anddifferentiation. {ECO:0000269|PubMed:25196463}. | Mitochondrial sodium/calcium antiporter that mediatessodium-dependent calcium efflux from mitochondrion, by mediatingthe exchange of 3 sodium ions per 1 calcium ion (PubMed:20018762,PubMed:22829870, PubMed:23056385, PubMed:24898248,PubMed:28219928). Plays a central role in mitochondrial calciumhomeostasis by mediating mitochondrial calcium extrusion: calciumefflux is essential for mitochondrial function and cell survival,notably in cardiomyocytes (By similarity). Regulates rates ofglucose-dependent insulin secretion in pancreatic beta-cellsduring the first phase of insulin secretion: acts by mediatingefflux of calcium from mitochondrion, thereby affectingcytoplasmic calcium responses (PubMed:23056385). Required forstore-operated Ca(2+) entry (SOCE) and Ca(2+) release-activatedCa(2+) (CRAC) channel regulation: sodium transport by SLC8B1 leadsto promote calcium-shuttling that modulates mitochondrial redoxstatus, thereby regulating SOCE activity (PubMed:28219928).Involved in B-lymphocyte chemotaxis (By similarity). Able totransport Ca(2+) in exchange of either Li(+) or Na(+), explaininghow Li(+) catalyzes Ca(2+) exchange (PubMed:15060069). In contrastto other members of the family its function is independent of K(+)(PubMed:15060069). {ECO:0000250|UniProtKB:Q925Q3,ECO:0000269|PubMed:15060069, ECO:0000269|PubMed:20018762,ECO:0000269|PubMed:22829870, ECO:0000269|PubMed:23056385,ECO:0000269|PubMed:24898248, ECO:0000269|PubMed:28219928}. |
| 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 NTRK3_SLC8B1 |
| 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 NTRK3_SLC8B1 |
| 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 |
| - 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 NTRK3_SLC8B1 |
| 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 |
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RelatedDiseases for NTRK3_SLC8B1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NTRK3 | C0036341 | Schizophrenia | 3 | PSYGENET |
| Hgene | NTRK3 | C0041696 | Unipolar Depression | 2 | PSYGENET |
| Hgene | NTRK3 | C1269683 | Major Depressive Disorder | 2 | PSYGENET |
| Hgene | NTRK3 | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | NTRK3 | C0017638 | Glioma | 1 | CTD_human |
| Hgene | NTRK3 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Hgene | NTRK3 | C0525045 | Mood Disorders | 1 | PSYGENET |
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