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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 NOVA1 |
 Gene summary |
| Gene information | Gene symbol | NOVA1 | Gene ID | 4857 |
| Gene name | NOVA alternative splicing regulator 1 | |
| Synonyms | Nova-1 | |
| Cytomap | 14q12 | |
| Type of gene | protein-coding | |
| Description | RNA-binding protein Nova-1neuro-oncological ventral antigen 1onconeural ventral antigen 1paraneoplastic Ri antigenventral neuron-specific protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | P51513 | |
| Context | PubMed: NOVA1 [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 |
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Exon skipping events across known transcript of Ensembl for NOVA1 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 NOVA1 |
| 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 NOVA1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112354 | 14 | 26918057:26918169:26941525:26941597:26949182:26949349 | 26941525:26941597 | ENSG00000139910.15 | ENST00000267422.7,ENST00000483536.2,ENST00000549146.1,ENST00000449198.2,ENST00000539517.2,ENST00000549571.1 |
| exon_skip_112361 | 14 | 26949182:26949349:27018885:27018987:27064615:27064667 | 27018885:27018987 | ENSG00000139910.15 | ENST00000267422.7,ENST00000483536.2,ENST00000546546.1 |
| exon_skip_112365 | 14 | 26949182:26949349:27037625:27037671:27064615:27064667 | 27037625:27037671 | ENSG00000139910.15 | ENST00000347476.6 |
| exon_skip_112369 | 14 | 26949182:26949349:27064615:27064759:27066506:27066642 | 27064615:27064759 | ENSG00000139910.15 | ENST00000344429.5,ENST00000465357.2,ENST00000547619.1,ENST00000539517.2,ENST00000574031.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NOVA1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112354 | 14 | 26918057:26918169:26941525:26941597:26949182:26949349 | 26941525:26941597 | ENSG00000139910.15 | ENST00000483536.2,ENST00000539517.2,ENST00000267422.7,ENST00000449198.2,ENST00000549146.1,ENST00000549571.1 |
| exon_skip_112361 | 14 | 26949182:26949349:27018885:27018987:27064615:27064667 | 27018885:27018987 | ENSG00000139910.15 | ENST00000483536.2,ENST00000267422.7,ENST00000546546.1 |
| exon_skip_112365 | 14 | 26949182:26949349:27037625:27037671:27064615:27064667 | 27037625:27037671 | ENSG00000139910.15 | ENST00000347476.6 |
| exon_skip_112369 | 14 | 26949182:26949349:27064615:27064759:27066506:27066642 | 27064615:27064759 | ENSG00000139910.15 | ENST00000465357.2,ENST00000539517.2,ENST00000344429.5,ENST00000547619.1,ENST00000574031.1 |
| 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 NOVA1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for NOVA1 |
| 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 NOVA1 |
| - 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-DD-A39Y-01 | exon_skip_112369 | 27064616 | 27064759 | 27064622 | 27064622 | Frame_Shift_Del | A | - | p.Y92fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_112369 | 27064616 | 27064759 | 27064622 | 27064622 | Frame_Shift_Del | A | - | p.Y92fs |
| STAD | TCGA-FP-A9TM-01 | exon_skip_112369 | 27064616 | 27064759 | 27064638 | 27064641 | Frame_Shift_Del | AGAC | - | p.86_87del |
| STAD | TCGA-FP-A9TM-01 | exon_skip_112369 | 27064616 | 27064759 | 27064638 | 27064641 | Frame_Shift_Del | AGAC | - | p.LS85fs |
| SKCM | TCGA-FS-A1ZC-06 | exon_skip_112354 | 26941526 | 26941597 | 26941528 | 26941528 | Nonsense_Mutation | G | A | p.Q173* |
| SKCM | TCGA-FS-A1ZC-06 | exon_skip_112354 | 26941526 | 26941597 | 26941528 | 26941528 | Nonsense_Mutation | G | A | p.Q173X |
| LIHC | TCGA-G3-AAV5-01 | exon_skip_112369 | 27064616 | 27064759 | 27064670 | 27064670 | Nonsense_Mutation | G | A | p.Q76X |
| PAAD | TCGA-IB-7651-01 | exon_skip_112354 | 26941526 | 26941597 | 26941524 | 26941524 | Splice_Site | A | C | . |
| - 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 |
| SARC9371_BONE | 27064616 | 27064759 | 27064694 | 27064694 | Missense_Mutation | C | T | p.G68R |
| CAL148_BREAST | 27064616 | 27064759 | 27064733 | 27064733 | Missense_Mutation | G | A | p.L55F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NOVA1 |
| 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 NOVA1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NOVA1 |
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RelatedDrugs for NOVA1 |
| 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 NOVA1 |
| 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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