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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 NOS1 |
 Gene summary |
| Gene information | Gene symbol | NOS1 | Gene ID | 4842 |
| Gene name | nitric oxide synthase 1 | |
| Synonyms | IHPS1|N-NOS|NC-NOS|NOS|bNOS|nNOS | |
| Cytomap | 12q24.22 | |
| Type of gene | protein-coding | |
| Description | nitric oxide synthase, brainNOS type Iconstitutive NOSneuronal NOSnitric oxide synthase 1 (neuronal)peptidyl-cysteine S-nitrosylase NOS1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8WY41 | |
| Context | PubMed: NOS1 [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 |
| NOS1 | GO:0009408 | response to heat | 18048451 |
| NOS1 | GO:0042311 | vasodilation | 18048451 |
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Exon skipping events across known transcript of Ensembl for NOS1 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 NOS1 |
| 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 NOS1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_97097 | 12 | 117657879:117658074:117660519:117660668:117662820:117662942 | 117660519:117660668 | ENSG00000089250.14 | ENST00000338101.4,ENST00000344089.3,ENST00000317775.6 |
| exon_skip_97098 | 12 | 117680431:117680510:117681101:117681240:117685152:117685327 | 117681101:117681240 | ENSG00000089250.14 | ENST00000338101.4,ENST00000344089.3,ENST00000317775.6 |
| exon_skip_97099 | 12 | 117691442:117691559:117693740:117693842:117696201:117696260 | 117693740:117693842 | ENSG00000089250.14 | ENST00000338101.4 |
| exon_skip_97100 | 12 | 117705847:117705949:117710189:117710364:117715763:117715903 | 117710189:117710364 | ENSG00000089250.14 | ENST00000338101.4,ENST00000344089.3,ENST00000317775.6 |
| exon_skip_97101 | 12 | 117718529:117718671:117723045:117723137:117723908:117724071 | 117723045:117723137 | ENSG00000089250.14 | ENST00000338101.4,ENST00000344089.3,ENST00000317775.6 |
| exon_skip_97102 | 12 | 117728102:117728231:117739820:117739876:117749270:117749397 | 117739820:117739876 | ENSG00000089250.14 | ENST00000344089.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NOS1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_97097 | 12 | 117657879:117658074:117660519:117660668:117662820:117662942 | 117660519:117660668 | ENSG00000089250.14 | ENST00000317775.6,ENST00000344089.3,ENST00000338101.4 |
| exon_skip_97098 | 12 | 117680431:117680510:117681101:117681240:117685152:117685327 | 117681101:117681240 | ENSG00000089250.14 | ENST00000317775.6,ENST00000344089.3,ENST00000338101.4 |
| exon_skip_97099 | 12 | 117691442:117691559:117693740:117693842:117696201:117696260 | 117693740:117693842 | ENSG00000089250.14 | ENST00000338101.4 |
| exon_skip_97100 | 12 | 117705847:117705949:117710189:117710364:117715763:117715903 | 117710189:117710364 | ENSG00000089250.14 | ENST00000317775.6,ENST00000344089.3,ENST00000338101.4 |
| exon_skip_97101 | 12 | 117718529:117718671:117723045:117723137:117723908:117724071 | 117723045:117723137 | ENSG00000089250.14 | ENST00000317775.6,ENST00000344089.3,ENST00000338101.4 |
| exon_skip_97102 | 12 | 117728102:117728231:117739820:117739876:117749270:117749397 | 117739820:117739876 | ENSG00000089250.14 | ENST00000344089.3 |
| 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 NOS1 |
| 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 |
| ENST00000317775 | 117660519 | 117660668 | Frame-shift |
| ENST00000317775 | 117681101 | 117681240 | Frame-shift |
| ENST00000317775 | 117710189 | 117710364 | Frame-shift |
| ENST00000317775 | 117723045 | 117723137 | Frame-shift |
| 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 |
| ENST00000317775 | 117660519 | 117660668 | Frame-shift |
| ENST00000317775 | 117681101 | 117681240 | Frame-shift |
| ENST00000317775 | 117710189 | 117710364 | Frame-shift |
| ENST00000317775 | 117723045 | 117723137 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NOS1 |
| 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 NOS1 |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_97097 | 117660520 | 117660668 | 117660540 | 117660540 | Frame_Shift_Del | G | - | p.R1319fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_97097 | 117660520 | 117660668 | 117660570 | 117660570 | Frame_Shift_Del | C | - | p.V1309fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_97097 | 117660520 | 117660668 | 117660570 | 117660570 | Frame_Shift_Del | C | - | p.V1309fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_97097 | 117660520 | 117660668 | 117660570 | 117660570 | Frame_Shift_Del | C | - | p.V1309fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_97098 | 117681102 | 117681240 | 117681194 | 117681194 | Frame_Shift_Del | T | - | p.K957fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_97098 | 117681102 | 117681240 | 117681194 | 117681194 | Frame_Shift_Del | T | - | p.K991fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_97098 | 117681102 | 117681240 | 117681224 | 117681224 | Frame_Shift_Del | A | - | p.F947fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_97100 | 117710190 | 117710364 | 117710207 | 117710207 | Frame_Shift_Del | G | - | p.R608fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_97100 | 117710190 | 117710364 | 117710271 | 117710271 | Frame_Shift_Del | G | - | p.A586fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_97101 | 117723046 | 117723137 | 117723057 | 117723057 | Frame_Shift_Del | T | - | p.K457fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_97101 | 117723046 | 117723137 | 117723102 | 117723102 | Frame_Shift_Del | C | - | p.G442fs |
| CHOL | TCGA-W5-AA2R-01 | exon_skip_97097 | 117660520 | 117660668 | 117660627 | 117660627 | Nonsense_Mutation | G | A | p.Q1324X |
| LUAD | TCGA-55-7903-01 | exon_skip_97098 | 117681102 | 117681240 | 117681123 | 117681123 | Nonsense_Mutation | C | A | p.E981* |
| LUAD | TCGA-44-7661-01 | exon_skip_97100 | 117710190 | 117710364 | 117710192 | 117710192 | Nonsense_Mutation | C | A | p.E613* |
| - 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 |
| NCIH196_LUNG | 117693741 | 117693842 | 117693745 | 117693745 | Missense_Mutation | G | C | p.H877D |
| NCIH660_PROSTATE | 117693741 | 117693842 | 117693802 | 117693802 | Missense_Mutation | G | C | p.P858A |
| HT29_LARGE_INTESTINE | 117693741 | 117693842 | 117693810 | 117693810 | Missense_Mutation | T | C | p.K855R |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117710190 | 117710364 | 117710224 | 117710224 | Missense_Mutation | T | C | p.D602G |
| HEC1_ENDOMETRIUM | 117710190 | 117710364 | 117710225 | 117710225 | Missense_Mutation | C | T | p.D602N |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117710190 | 117710364 | 117710255 | 117710255 | Missense_Mutation | A | T | p.W592R |
| SNU16_STOMACH | 117710190 | 117710364 | 117710269 | 117710269 | Missense_Mutation | C | A | p.C587F |
| NCIH2135_LUNG | 117710190 | 117710364 | 117710320 | 117710320 | Missense_Mutation | G | C | p.P570R |
| NCIH1693_LUNG | 117723046 | 117723137 | 117723050 | 117723050 | Missense_Mutation | G | T | p.L460I |
| DU145_PROSTATE | 117723046 | 117723137 | 117723072 | 117723072 | Missense_Mutation | C | A | p.K452N |
| NCIH1688_LUNG | 117723046 | 117723137 | 117723110 | 117723110 | Missense_Mutation | C | T | p.A440T |
| RKO_LARGE_INTESTINE | 117723046 | 117723137 | 117723112 | 117723112 | Missense_Mutation | G | A | p.T439M |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117723046 | 117723137 | 117723116 | 117723116 | Missense_Mutation | T | C | p.T438A |
| NCIH460_LUNG | 117739821 | 117739876 | 117739833 | 117739833 | Missense_Mutation | C | A | p.G299V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NOS1 |
| 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 NOS1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NOS1 |
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RelatedDrugs for NOS1 |
| 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 NOS1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NOS1 | C0019151 | Hepatic Encephalopathy | 2 | CTD_human |
| NOS1 | C0027746 | Nerve Degeneration | 2 | CTD_human |
| NOS1 | C0004936 | Mental disorders | 1 | CTD_human |
| NOS1 | C0007760 | Cerebellar Diseases | 1 | CTD_human |
| NOS1 | C0011581 | Depressive disorder | 1 | CTD_human |
| NOS1 | C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | CTD_human |
| NOS1 | C0015923 | Fetal Alcohol Syndrome | 1 | PSYGENET |
| NOS1 | C0015967 | Fever | 1 | CTD_human |
| NOS1 | C0020429 | Hyperalgesia | 1 | CTD_human |
| NOS1 | C0021845 | Intestinal Perforation | 1 | CTD_human |
| NOS1 | C0026552 | Morphine Dependence | 1 | CTD_human |
| NOS1 | C0027765 | nervous system disorder | 1 | CTD_human |
| NOS1 | C0030567 | Parkinson Disease | 1 | CTD_human |
| NOS1 | C0036341 | Schizophrenia | 1 | CTD_human |
| NOS1 | C0036572 | Seizures | 1 | CTD_human |
| NOS1 | C0038220 | Status Epilepticus | 1 | CTD_human |
| NOS1 | C0042035 | Urination Disorders | 1 | CTD_human |
| NOS1 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| NOS1 | C0242184 | Hypoxia | 1 | CTD_human |
| NOS1 | C0525041 | Neurobehavioral Manifestations | 1 | CTD_human |
| NOS1 | C0600519 | Ventricular Remodeling | 1 | CTD_human |
| NOS1 | C0745744 | End Stage Liver Disease | 1 | CTD_human |
| NOS1 | C0751792 | Trauma, Nervous System | 1 | CTD_human |
| NOS1 | C2985290 | Fetal Alcohol Spectrum Disorders | 1 | CTD_human |
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