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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for NTRK1 |
 Gene summary |
| Gene information | Gene symbol | NTRK1 | Gene ID | 4914 |
| Gene name | neurotrophic receptor tyrosine kinase 1 | |
| Synonyms | MTC|TRK|TRK1|TRKA|Trk-A|p140-TrkA | |
| Cytomap | 1q23.1 | |
| Type of gene | protein-coding | |
| Description | high affinity nerve growth factor receptorOncogene TRKTRK1-transforming tyrosine kinase proteingp140trkneurotrophic tyrosine kinase, receptor, type 1tropomyosin-related kinase Atyrosine kinase receptor A | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| NTRK1 | GO:0006468 | protein phosphorylation | 15488758 |
| NTRK1 | GO:0008285 | negative regulation of cell proliferation | 15488758 |
| NTRK1 | GO:0010976 | positive regulation of neuron projection development | 15488758 |
| NTRK1 | GO:0018108 | peptidyl-tyrosine phosphorylation | 2927393 |
| NTRK1 | GO:0043547 | positive regulation of GTPase activity | 15488758 |
| NTRK1 | GO:0046579 | positive regulation of Ras protein signal transduction | 15488758 |
| NTRK1 | GO:0046777 | protein autophosphorylation | 15488758 |
| NTRK1 | GO:0048011 | neurotrophin TRK receptor signaling pathway | 15488758 |
| NTRK1 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 15488758 |
| NTRK1 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 15488758 |
| NTRK1 | GO:1904646 | cellular response to amyloid-beta | 11927634 |
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Gene structures and expression levels for NTRK1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000198400
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NTRK1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_111888 | chr1 | 156873633:156873959:156874383:156874400:156874571:156874626 | 156874383:156874400 |
| exon_skip_273379 | chr1 | 156874906:156875008:156875520:156875666:156876080:156876199 | 156875520:156875666 |
| exon_skip_285646 | chr1 | 156868505:156868647:156871623:156871755:156873633:156873959 | 156871623:156871755 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for NTRK1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000524377 | 156871623 | 156871755 | Frame-shift |
| ENST00000524377 | 156874383 | 156874400 | In-frame |
| ENST00000524377 | 156875520 | 156875666 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000524377 | 156874383 | 156874400 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000524377 | 156874383 | 156874400 | In-frame |
| ENST00000524377 | 156875520 | 156875666 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NTRK1 |
p-ENSG00000198400_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000524377 | 2449 | 796 | 156875520 | 156875666 | 1397 | 1542 | 452 | 500 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000524377 | 2449 | 796 | 156875520 | 156875666 | 1397 | 1542 | 452 | 500 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P04629 | 452 | 500 | 476 | 478 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KML |
| P04629 | 452 | 500 | 33 | 796 | Chain | ID=PRO_0000016724;Note=High affinity nerve growth factor receptor |
| P04629 | 452 | 500 | 490 | 492 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KMI |
| P04629 | 452 | 500 | 496 | 496 | Modified residue | Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15488758,ECO:0000269|PubMed:27676246,ECO:0000269|PubMed:8155326;Dbxref=PMID:15488758,PMID:27676246,PMID:8155326 |
| P04629 | 452 | 500 | 496 | 496 | Mutagenesis | Note=Loss of interaction with SHC1 and altered phosphorylation of SHC1. Altered neurite outgrowth and altered activation of the MAPK pathway%3B when associated with F-791. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8155326;Dbxref=PMID:8155 |
| P04629 | 452 | 500 | 146 | 796 | Natural variant | ID=VAR_079400;Note=In CIPA. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28328124;Dbxref=PMID:28328124 |
| P04629 | 452 | 500 | 176 | 796 | Natural variant | ID=VAR_079401;Note=In CIPA. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28328124;Dbxref=PMID:28328124 |
| P04629 | 452 | 500 | 235 | 796 | Natural variant | ID=VAR_079402;Note=In CIPA%3B loss of protein. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28177573;Dbxref=PMID:28177573 |
| P04629 | 452 | 500 | 452 | 452 | Natural variant | ID=VAR_041467;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34900547,PMID:17344846 |
| P04629 | 452 | 500 | 476 | 796 | Natural variant | ID=VAR_079403;Note=In CIPA. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28328124;Dbxref=PMID:28328124 |
| P04629 | 452 | 500 | 492 | 492 | Natural variant | ID=VAR_068482;Note=In CIPA. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22302274;Dbxref=dbSNP:rs144901788,PMID:22302274 |
| P04629 | 452 | 500 | 469 | 490 | Region | Note=Interaction with SQSTM1;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P04629 | 452 | 500 | 486 | 486 | Site | Note=Breakpoint for translocation to form TRK-T1 |
| P04629 | 452 | 500 | 496 | 496 | Site | Note=Interaction with SHC1 |
| P04629 | 452 | 500 | 440 | 796 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P04629 | 452 | 500 | 494 | 496 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1SHC |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P04629 | 452 | 500 | 476 | 478 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KML |
| P04629 | 452 | 500 | 33 | 796 | Chain | ID=PRO_0000016724;Note=High affinity nerve growth factor receptor |
| P04629 | 452 | 500 | 490 | 492 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KMI |
| P04629 | 452 | 500 | 496 | 496 | Modified residue | Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15488758,ECO:0000269|PubMed:27676246,ECO:0000269|PubMed:8155326;Dbxref=PMID:15488758,PMID:27676246,PMID:8155326 |
| P04629 | 452 | 500 | 496 | 496 | Mutagenesis | Note=Loss of interaction with SHC1 and altered phosphorylation of SHC1. Altered neurite outgrowth and altered activation of the MAPK pathway%3B when associated with F-791. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8155326;Dbxref=PMID:8155 |
| P04629 | 452 | 500 | 146 | 796 | Natural variant | ID=VAR_079400;Note=In CIPA. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28328124;Dbxref=PMID:28328124 |
| P04629 | 452 | 500 | 176 | 796 | Natural variant | ID=VAR_079401;Note=In CIPA. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28328124;Dbxref=PMID:28328124 |
| P04629 | 452 | 500 | 235 | 796 | Natural variant | ID=VAR_079402;Note=In CIPA%3B loss of protein. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28177573;Dbxref=PMID:28177573 |
| P04629 | 452 | 500 | 452 | 452 | Natural variant | ID=VAR_041467;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34900547,PMID:17344846 |
| P04629 | 452 | 500 | 476 | 796 | Natural variant | ID=VAR_079403;Note=In CIPA. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28328124;Dbxref=PMID:28328124 |
| P04629 | 452 | 500 | 492 | 492 | Natural variant | ID=VAR_068482;Note=In CIPA. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22302274;Dbxref=dbSNP:rs144901788,PMID:22302274 |
| P04629 | 452 | 500 | 469 | 490 | Region | Note=Interaction with SQSTM1;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P04629 | 452 | 500 | 486 | 486 | Site | Note=Breakpoint for translocation to form TRK-T1 |
| P04629 | 452 | 500 | 496 | 496 | Site | Note=Interaction with SHC1 |
| P04629 | 452 | 500 | 440 | 796 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P04629 | 452 | 500 | 494 | 496 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1SHC |
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3'-UTR located exon skipping events that lost miRNA binding sites in NTRK1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for NTRK1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for NTRK1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NTRK1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for NTRK1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for NTRK1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P04629 | approved | DB00321 | Amitriptyline | small molecule | P04629 |
| P04629 | approved | DB00619 | Imatinib | small molecule | P04629 |
| P04629 | approved | DB08896 | Regorafenib | small molecule | P04629 |
| P04629 | approved|investigational | DB12010 | Fostamatinib | small molecule | P04629 |
| P04629 | approved|investigational | DB13926 | Cenegermin | biotech | P04629 |
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RelatedDiseases for NTRK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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