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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for NKX2-1 |
 Gene summary |
| Gene information | Gene symbol | NKX2-1 | Gene ID | 7080 |
| Gene name | NK2 homeobox 1 | |
| Synonyms | BCH|BHC|NK-2|NKX2.1|NKX2A|NMTC1|T/EBP|TEBP|TITF1|TTF-1|TTF1 | |
| Cytomap | 14q13.3 | |
| Type of gene | protein-coding | |
| Description | homeobox protein Nkx-2.1NK-2 homolog Ahomeobox protein NK-2 homolog Athyroid nuclear factor 1thyroid transcription factor 1thyroid-specific enhancer-binding protein | |
| Modification date | 20180519 | |
| UniProtAcc | P43699 | |
| Context | PubMed: NKX2-1 [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 |
| NKX2-1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 23143308 |
| NKX2-1 | GO:0010628 | positive regulation of gene expression | 16960125 |
| NKX2-1 | GO:0010719 | negative regulation of epithelial to mesenchymal transition | 19293183 |
| NKX2-1 | GO:0030336 | negative regulation of cell migration | 19293183 |
| NKX2-1 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 19293183 |
| NKX2-1 | GO:0045893 | positive regulation of transcription, DNA-templated | 14960358 |
| NKX2-1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 7559607|7713914|16960125 |
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Exon skipping events across known transcript of Ensembl for NKX2-1 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. |
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Gene isoform structures and expression levels for NKX2-1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NKX2-1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112830 | 14 | 36988224:36988575:36988672:36988817:36989257:36989339 | 36988672:36988817 | ENSG00000136352.13 | ENST00000522719.2 |
| exon_skip_112837 | 14 | 36988791:36988817:36989257:36989491:36989761:36990154 | 36989257:36989491 | ENSG00000136352.13 | ENST00000546983.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NKX2-1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112830 | 14 | 36988224:36988575:36988672:36988817:36989257:36989339 | 36988672:36988817 | ENSG00000136352.13 | ENST00000522719.2 |
| exon_skip_112837 | 14 | 36988791:36988817:36989257:36989491:36989761:36990154 | 36989257:36989491 | ENSG00000136352.13 | ENST00000546983.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NKX2-1 |
| 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 |
| ENST00000522719 | 36988672 | 36988817 | 3UTR-3UTR |
| 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 |
| ENST00000522719 | 36988672 | 36988817 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for NKX2-1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for NKX2-1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| - 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NKX2-1 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NKX2-1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NKX2-1 |
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RelatedDrugs for NKX2-1 |
| 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 |
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RelatedDiseases for NKX2-1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NKX2-1 | C0019284 | Diaphragmatic Hernia | 2 | CTD_human |
| NKX2-1 | C0393584 | Benign Hereditary Chorea | 2 | ORPHANET;UNIPROT |
| NKX2-1 | C1970269 | Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress | 2 | CTD_human;ORPHANET;UNIPROT |
| NKX2-1 | C0024115 | Lung diseases | 1 | CTD_human |
| NKX2-1 | C0238463 | Papillary thyroid carcinoma | 1 | ORPHANET;UNIPROT |
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