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mutLBSgeneDB |
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| Gene summary for NTRK3 |
 Gene summary |
| Basic gene Info. | Gene symbol | NTRK3 |
| Gene name | neurotrophic tyrosine kinase, receptor, type 3 | |
| Synonyms | TRKC|gp145(trkC) | |
| Cytomap | UCSC genome browser: 15q25 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001007156.2, NM_001012338.2,NM_001243101.1,NM_002530.3, | |
| Description | ETS related protein-neurotrophic receptor tyrosine kinase fusion proteinETV6-NTRK3 fusionGP145-TrkCNT-3 growth factor receptortyrosine kinase receptor C | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 191316 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000140538 | ||
| HPRD : 01870 | ||
| Vega : OTTHUMG00000148677 | ||
| Protein | UniProt: Q16288 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NTRK3 | |
| BioGPS: 4916 | ||
| Pathway | NCI Pathway Interaction Database: NTRK3 | |
| KEGG: NTRK3 | ||
| REACTOME: NTRK3 | ||
| Pathway Commons: NTRK3 | ||
| Context | iHOP: NTRK3 | |
| ligand binding site mutation search in PubMed: NTRK3 | ||
| UCL Cancer Institute: NTRK3 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0000187 | activation of MAPK activity | 23027130 | GO:0001933 | negative regulation of protein phosphorylation | 23027130 | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | 23027130 | GO:0008284 | positive regulation of cell proliferation | 23027130 | GO:0010628 | positive regulation of gene expression | 23027130 | GO:0030335 | positive regulation of cell migration | 23027130 | GO:0032148 | activation of protein kinase B activity | 23027130 | GO:0032856 | activation of Ras GTPase activity | 23027130 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 23027130 | GO:0038179 | neurotrophin signaling pathway | 23027130 | GO:0050927 | positive regulation of positive chemotaxis | 23027130 | GO:2000251 | positive regulation of actin cytoskeleton reorganization | 23027130 |
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| Ligand binding site mutations for NTRK3 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H677 | H677R | COAD | 1 | H677 | H677Y | COAD | 1 | I695 | I695F | COAD | 1 | I695 | I695T | LAML | 1 | K621 | K621N | LUAD | 1 | L591 | E590K | SKCM | 1 | G623 | G623E | SKCM | 1 | E588 | E588D | SKCM | 1 | E588 | R587M | SKCM | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for NTRK3 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | H677 | H677R | 0.042383537 | K621 | K621N | -1.337649 | I695 | I695T | -1.1018093 | I695 | I695F | -0.89090418 | L591 | E590K | -0.72072228 | E588 | R587M | -0.35420984 | E588 | E588D | -0.30222062 | G623 | G623E | -0.10213232 | H677 | H677Y | -0.021788889 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for NTRK3 from PDB |
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| Differential gene expression and gene-gene network for NTRK3 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for NTRK3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0014175 | Endometriosis | 1 | Biomarker |
| umls:C0017638 | Glioma | 1 | Biomarker |
| umls:C0038220 | Status Epilepticus | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NTRK3 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NTRK3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 0F4 | 1-(3-{[(3Z)-2-OXO-3-(1H-PYRROL-2-YLMETHYLIDENE)-2,3-DIHYDRO-1H-INDOL-6-YL]AMINO}PHENYL)-3-[3-(TRIFLUOROMETHYL)PHENYL]UREA | 3v5q | A | E588 L591 K621 G623 H677 I695 | 0F4 | 1-(3-{[(3Z)-2-OXO-3-(1H-PYRROL-2-YLMETHYLIDENE)-2,3-DIHYDRO-1H-INDOL-6-YL]AMINO}PHENYL)-3-[3-(TRIFLUOROMETHYL)PHENYL]UREA | 3v5q | B | E588 L591 K621 G623 H677 I695 | 4EJ | 4-[6-(BENZYLAMINO)IMIDAZO[1,2-B]PYRIDAZIN-3- YL]BENZONITRILE | 4ymj | A | G623 | 4EJ | 4-[6-(BENZYLAMINO)IMIDAZO[1,2-B]PYRIDAZIN-3- YL]BENZONITRILE | 4ymj | B | G623 |
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| Conservation information for LBS of NTRK3 |
| Multiple alignments for Q16288 in multiple species |
| LBS | AA sequence | # species | Species | A570 | DKMLVAVKALK | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | E588 | KDFQREAELLT | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | E618 | LIMVFEYMKHG | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | F617 | PLIMVFEYMKH | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | F675 | LASQHFVHRDL | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | G545 | LKRELGEGAFG | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | G623 | EYMKHGDLNKF | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | G696 | LLVKIGDFGMS | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | H677 | SQHFVHRDLAT | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | I600 | LQHEHIVKFYG | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | I695 | NLLVKIGDFGM | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | K572 | MLVAVKALKDP | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | K621 | VFEYMKHGDLN | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | L544 | VLKRELGEGAF | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | L591 | QREAELLTNLQ | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | L592 | REAELLTNLQH | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | L595 | ELLTNLQHEHI | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | L686 | ATRNCLVGANL | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | M620 | MVFEYMKHGDL | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | V552 | GAFGKVFLAEC | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes | Y619 | IMVFEYMKHGD | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes |
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