|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
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 | 20180523 | |
| UniProtAcc | P04629 | |
| Context | PubMed: NTRK1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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 |
Top |
Exon skipping events across known transcript of Ensembl for NTRK1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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. |
 |
Top |
Gene isoform structures and expression levels for NTRK1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for NTRK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_12495 | 1 | 156838296:156838439:156841414:156841547:156843424:156843682 | 156841414:156841547 | ENSG00000198400.7 | ENST00000368196.3,ENST00000524377.1,ENST00000530298.1,ENST00000358660.3,ENST00000392302.2 |
| exon_skip_12497 | 1 | 156838296:156838439:156843424:156843751:156844362:156844418 | 156843424:156843751 | ENSG00000198400.7 | ENST00000497019.2 |
| exon_skip_12498 | 1 | 156841414:156841547:156843424:156843751:156844362:156844418 | 156843424:156843751 | ENSG00000198400.7 | ENST00000368196.3,ENST00000530298.1,ENST00000358660.3,ENST00000392302.2 |
| exon_skip_12499 | 1 | 156843424:156843751:156844174:156844192:156844362:156844418 | 156844174:156844192 | ENSG00000198400.7 | ENST00000524377.1 |
| exon_skip_12500 | 1 | 156844697:156844800:156845311:156845458:156845871:156845991 | 156845311:156845458 | ENSG00000198400.7 | ENST00000368196.3,ENST00000524377.1,ENST00000534682.1,ENST00000497019.2,ENST00000392302.2 |
| exon_skip_12501 | 1 | 156844697:156844800:156845311:156846002:156846191:156846364 | 156845311:156846002 | ENSG00000198400.7 | ENST00000530298.1 |
| exon_skip_12503 | 1 | 156849792:156849949:156850240:156850331:156851248:156851434 | 156850240:156850331 | ENSG00000198400.7 | ENST00000531606.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for NTRK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_12495 | 1 | 156838296:156838439:156841414:156841547:156843424:156843682 | 156841414:156841547 | ENSG00000198400.7 | ENST00000392302.2,ENST00000530298.1,ENST00000368196.3,ENST00000524377.1,ENST00000358660.3 |
| exon_skip_12497 | 1 | 156838296:156838439:156843424:156843751:156844362:156844418 | 156843424:156843751 | ENSG00000198400.7 | ENST00000497019.2 |
| exon_skip_12498 | 1 | 156841414:156841547:156843424:156843751:156844362:156844418 | 156843424:156843751 | ENSG00000198400.7 | ENST00000392302.2,ENST00000530298.1,ENST00000368196.3,ENST00000358660.3 |
| exon_skip_12499 | 1 | 156843424:156843751:156844174:156844192:156844362:156844418 | 156844174:156844192 | ENSG00000198400.7 | ENST00000524377.1 |
| exon_skip_12500 | 1 | 156844697:156844800:156845311:156845458:156845871:156845991 | 156845311:156845458 | ENSG00000198400.7 | ENST00000392302.2,ENST00000497019.2,ENST00000368196.3,ENST00000524377.1,ENST00000534682.1 |
| exon_skip_12501 | 1 | 156844697:156844800:156845311:156846002:156846191:156846364 | 156845311:156846002 | ENSG00000198400.7 | ENST00000530298.1 |
| exon_skip_12503 | 1 | 156849792:156849949:156850240:156850331:156851248:156851434 | 156850240:156850331 | ENSG00000198400.7 | ENST00000531606.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for NTRK1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000524377 | 156841414 | 156841547 | Frame-shift |
| ENST00000524377 | 156844174 | 156844192 | In-frame |
| ENST00000524377 | 156845311 | 156845458 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000524377 | 156841414 | 156841547 | Frame-shift |
| ENST00000524377 | 156844174 | 156844192 | In-frame |
| ENST00000524377 | 156845311 | 156845458 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for NTRK1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| Loci of skipped exons in TCGA 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 | 156845311 | 156845458 | 1396 | 1542 | 451 | 500 |
| Loci of skipped exons in GTEx 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 | 156845311 | 156845458 | 1396 | 1542 | 451 | 500 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 GTEx. |
| 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 |
Top |
SNVs in the skipped exons for NTRK1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| KIRC | TCGA-B0-5108-01 | exon_skip_12500 | 156845312 | 156845458 | 156845351 | 156845351 | Frame_Shift_Del | C | - | p.S459fs |
| KIRC | TCGA-B0-5108-01 | exon_skip_12500 | 156845312 | 156845458 | 156845351 | 156845351 | Frame_Shift_Del | C | - | p.S465fs |
| KIRC | TCGA-B0-5108-01 | exon_skip_12501 | 156845312 | 156846002 | 156845351 | 156845351 | Frame_Shift_Del | C | - | p.S459fs |
| KIRC | TCGA-B0-5108-01 | exon_skip_12501 | 156845312 | 156846002 | 156845351 | 156845351 | Frame_Shift_Del | C | - | p.S465fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_12500 | 156845312 | 156845458 | 156845436 | 156845436 | Frame_Shift_Del | C | - | p.N487fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_12501 | 156845312 | 156846002 | 156845436 | 156845436 | Frame_Shift_Del | C | - | p.N487fs |
| GBM | TCGA-06-6391-01 | exon_skip_12495 | 156841415 | 156841547 | 156841494 | 156841494 | Nonsense_Mutation | G | A | p.W266* |
| ESCA | TCGA-L5-A4OT-01 | exon_skip_12498 exon_skip_12497 | 156843425 | 156843751 | 156843699 | 156843699 | Nonsense_Mutation | G | A | p.W301* |
| LUSC | TCGA-22-4601-01 | exon_skip_12501 | 156845312 | 156846002 | 156845973 | 156845973 | Nonsense_Mutation | G | T | p.E535* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| SW684_SOFT_TISSUE | 156841415 | 156841547 | 156841527 | 156841527 | Missense_Mutation | C | T | p.S277F |
| NB17_AUTONOMIC_GANGLIA | 156841415 | 156841547 | 156841541 | 156841541 | Missense_Mutation | G | A | p.V282I |
| NCIH2141_LUNG | 156843425 | 156843751 | 156843454 | 156843454 | Missense_Mutation | G | C | p.V294L |
| CORL23_LUNG | 156843425 | 156843751 | 156843485 | 156843485 | Missense_Mutation | C | G | p.S304C |
| SNUC2A_LARGE_INTESTINE | 156843425 | 156843751 | 156843500 | 156843500 | Missense_Mutation | C | T | p.P309L |
| 639V_URINARY_TRACT | 156843425 | 156843751 | 156843515 | 156843515 | Missense_Mutation | G | A | p.R314H |
| SNU878_LIVER | 156843425 | 156843751 | 156843527 | 156843527 | Missense_Mutation | A | G | p.N318S |
| HEC251_ENDOMETRIUM | 156843425 | 156843751 | 156843598 | 156843598 | Missense_Mutation | C | T | p.R342W |
| HCC2108_LUNG | 156843425 | 156843751 | 156843613 | 156843613 | Missense_Mutation | C | G | p.R347G |
| PANC0213_PANCREAS | 156843425 | 156843751 | 156843699 | 156843699 | Missense_Mutation | G | A | p.M375I |
| UACC257_SKIN | 156843425 | 156843751 | 156843734 | 156843734 | Missense_Mutation | C | T | p.P387L |
| HEC1A_ENDOMETRIUM | 156843425 | 156843751 | 156843736 | 156843736 | Missense_Mutation | G | A | p.E388K |
| HEC1B_ENDOMETRIUM | 156843425 | 156843751 | 156843736 | 156843736 | Missense_Mutation | G | A | p.E388K |
| NCIH1944_LUNG | 156845312 | 156845458 | 156845318 | 156845318 | Missense_Mutation | C | T | p.A454V |
| NCIH1944_LUNG | 156845312 | 156846002 | 156845318 | 156845318 | Missense_Mutation | C | T | p.A454V |
| CAMA1_BREAST | 156845312 | 156845458 | 156845381 | 156845381 | Missense_Mutation | C | G | p.S475C |
| CAMA1_BREAST | 156845312 | 156846002 | 156845381 | 156845381 | Missense_Mutation | C | G | p.S475C |
| SNGM_ENDOMETRIUM | 156845312 | 156846002 | 156845924 | 156845924 | Missense_Mutation | G | T | p.E518D |
| IGR1_SKIN | 156845312 | 156846002 | 156845912 | 156845912 | Nonsense_Mutation | G | A | p.W514* |
| MCC13_SKIN | 156843425 | 156843751 | 156843751 | 156843751 | Splice_Site | G | A | p.V393I |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NTRK1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NTRK1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NTRK1 |
Top |
RelatedDrugs for NTRK1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P04629 | DB00321 | Amitriptyline | High affinity nerve growth factor receptor | small molecule | approved | |
| P04629 | DB00619 | Imatinib | High affinity nerve growth factor receptor | small molecule | approved | |
| P04629 | DB08896 | Regorafenib | High affinity nerve growth factor receptor | small molecule | approved | |
| P04629 | DB12010 | Fostamatinib | High affinity nerve growth factor receptor | small molecule | approved|investigational | |
| P04629 | DB13926 | Cenegermin | High affinity nerve growth factor receptor | biotech | approved|investigational |
Top |
RelatedDiseases for NTRK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NTRK1 | C0020074 | HSAN Type IV | 8 | ORPHANET;UNIPROT |
| NTRK1 | C0005586 | Bipolar Disorder | 1 | CTD_human |
| NTRK1 | C0017638 | Glioma | 1 | CTD_human |
| NTRK1 | C0027796 | Neuralgia | 1 | CTD_human |
| NTRK1 | C0027819 | Neuroblastoma | 1 | CTD_human |
| NTRK1 | C0033975 | Psychotic Disorders | 1 | CTD_human |
| NTRK1 | C0036341 | Schizophrenia | 1 | CTD_human |
| NTRK1 | C0273115 | Lung Injury | 1 | CTD_human |
| NTRK1 | C0752347 | Lewy Body Disease | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|