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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 NET1 |
 Gene summary |
| Gene information | Gene symbol | NET1 | Gene ID | 10276 |
| Gene name | neuroepithelial cell transforming 1 | |
| Synonyms | ARHGEF8|NET1A | |
| Cytomap | 10p15.1 | |
| Type of gene | protein-coding | |
| Description | neuroepithelial cell-transforming gene 1 proteinRho guanine nucleotide exchange factor (GEF) 8guanine nucleotide regulatory protein (oncogene)neuroepithelioma transforming gene 1p65 Net1 proto-oncogene proteinsmall GTP-binding protein regulator | |
| Modification date | 20180519 | |
| UniProtAcc | Q7Z628 | |
| Context | PubMed: NET1 [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 |
| NET1 | GO:0043065 | positive regulation of apoptotic process | 21373644 |
| NET1 | GO:0070301 | cellular response to hydrogen peroxide | 21373644 |
| NET1 | GO:0071479 | cellular response to ionizing radiation | 21373644 |
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Exon skipping events across known transcript of Ensembl for NET1 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 NET1 |
| 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 NET1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_39298 | 10 | 5468617:5468684:5471132:5471192:5493792:5493900 | 5471132:5471192 | ENSG00000173848.14 | ENST00000355029.4,ENST00000542715.1 |
| exon_skip_39303 | 10 | 5471132:5471192:5493792:5493900:5494320:5494488 | 5493792:5493900 | ENSG00000173848.14 | ENST00000355029.4,ENST00000542715.1 |
| exon_skip_39306 | 10 | 5488573:5488821:5493792:5493900:5494320:5494488 | 5493792:5493900 | ENSG00000173848.14 | ENST00000380359.3,ENST00000486354.1 |
| exon_skip_39308 | 10 | 5494381:5494488:5494787:5494883:5495212:5495309 | 5494787:5494883 | ENSG00000173848.14 | ENST00000542715.1 |
| exon_skip_39309 | 10 | 5494381:5494488:5494820:5494883:5495212:5495309 | 5494820:5494883 | ENSG00000173848.14 | ENST00000355029.4,ENST00000380359.3 |
| exon_skip_39311 | 10 | 5494820:5494883:5495212:5495309:5495446:5495523 | 5495212:5495309 | ENSG00000173848.14 | ENST00000355029.4,ENST00000542715.1,ENST00000380359.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NET1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_39298 | 10 | 5468617:5468684:5471132:5471192:5493792:5493900 | 5471132:5471192 | ENSG00000173848.14 | ENST00000355029.4,ENST00000542715.1 |
| exon_skip_39303 | 10 | 5471132:5471192:5493792:5493900:5494320:5494488 | 5493792:5493900 | ENSG00000173848.14 | ENST00000355029.4,ENST00000542715.1 |
| exon_skip_39306 | 10 | 5488573:5488821:5493792:5493900:5494320:5494488 | 5493792:5493900 | ENSG00000173848.14 | ENST00000486354.1,ENST00000380359.3 |
| exon_skip_39308 | 10 | 5494381:5494488:5494787:5494883:5495212:5495309 | 5494787:5494883 | ENSG00000173848.14 | ENST00000542715.1 |
| exon_skip_39309 | 10 | 5494381:5494488:5494820:5494883:5495212:5495309 | 5494820:5494883 | ENSG00000173848.14 | ENST00000355029.4,ENST00000380359.3 |
| exon_skip_39311 | 10 | 5494820:5494883:5495212:5495309:5495446:5495523 | 5495212:5495309 | ENSG00000173848.14 | ENST00000355029.4,ENST00000542715.1,ENST00000380359.3 |
| 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 NET1 |
| 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 |
| ENST00000355029 | 5495212 | 5495309 | Frame-shift |
| ENST00000355029 | 5471132 | 5471192 | In-frame |
| ENST00000355029 | 5493792 | 5493900 | In-frame |
| ENST00000355029 | 5494820 | 5494883 | 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 |
| ENST00000355029 | 5495212 | 5495309 | Frame-shift |
| ENST00000355029 | 5471132 | 5471192 | In-frame |
| ENST00000355029 | 5493792 | 5493900 | In-frame |
| ENST00000355029 | 5494820 | 5494883 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NET1 |
| 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 |
| ENST00000355029 | 3419 | 596 | 5471132 | 5471192 | 338 | 397 | 65 | 85 |
| ENST00000355029 | 3419 | 596 | 5493792 | 5493900 | 398 | 505 | 85 | 121 |
| ENST00000355029 | 3419 | 596 | 5494820 | 5494883 | 674 | 736 | 177 | 198 |
| 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 |
| ENST00000355029 | 3419 | 596 | 5471132 | 5471192 | 338 | 397 | 65 | 85 |
| ENST00000355029 | 3419 | 596 | 5493792 | 5493900 | 398 | 505 | 85 | 121 |
| ENST00000355029 | 3419 | 596 | 5494820 | 5494883 | 674 | 736 | 177 | 198 |
| 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 |
| Q7Z628 | 65 | 85 | 55 | 85 | Alternative sequence | ID=VSP_011620;Note=In isoform 2. LTPGPNWDFTLKRKRREKDDDVVSLSSLDLK->MVAHDETGGLLPIKRTIRVLDVNNQSFREQE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8649828;Dbxref=PMID:15489334,PMID:8649828 |
| Q7Z628 | 65 | 85 | 1 | 596 | Chain | ID=PRO_0000080924;Note=Neuroepithelial cell-transforming gene 1 protein |
| Q7Z628 | 65 | 85 | 66 | 72 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q7Z628 | 65 | 85 | 1 | 74 | Region | Note=Necessary for nuclear localization;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q7Z628 | 85 | 121 | 55 | 85 | Alternative sequence | ID=VSP_011620;Note=In isoform 2. LTPGPNWDFTLKRKRREKDDDVVSLSSLDLK->MVAHDETGGLLPIKRTIRVLDVNNQSFREQE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8649828;Dbxref=PMID:15489334,PMID:8649828 |
| Q7Z628 | 85 | 121 | 1 | 596 | Chain | ID=PRO_0000080924;Note=Neuroepithelial cell-transforming gene 1 protein |
| Q7Z628 | 85 | 121 | 100 | 100 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q7Z628 | 85 | 121 | 106 | 106 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 |
| Q7Z628 | 177 | 198 | 1 | 596 | Chain | ID=PRO_0000080924;Note=Neuroepithelial cell-transforming gene 1 protein |
| Q7Z628 | 177 | 198 | 174 | 356 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q7Z628 | 177 | 198 | 170 | 199 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XH9 |
| 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 |
| Q7Z628 | 65 | 85 | 55 | 85 | Alternative sequence | ID=VSP_011620;Note=In isoform 2. LTPGPNWDFTLKRKRREKDDDVVSLSSLDLK->MVAHDETGGLLPIKRTIRVLDVNNQSFREQE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8649828;Dbxref=PMID:15489334,PMID:8649828 |
| Q7Z628 | 65 | 85 | 1 | 596 | Chain | ID=PRO_0000080924;Note=Neuroepithelial cell-transforming gene 1 protein |
| Q7Z628 | 65 | 85 | 66 | 72 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q7Z628 | 65 | 85 | 1 | 74 | Region | Note=Necessary for nuclear localization;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q7Z628 | 85 | 121 | 55 | 85 | Alternative sequence | ID=VSP_011620;Note=In isoform 2. LTPGPNWDFTLKRKRREKDDDVVSLSSLDLK->MVAHDETGGLLPIKRTIRVLDVNNQSFREQE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8649828;Dbxref=PMID:15489334,PMID:8649828 |
| Q7Z628 | 85 | 121 | 1 | 596 | Chain | ID=PRO_0000080924;Note=Neuroepithelial cell-transforming gene 1 protein |
| Q7Z628 | 85 | 121 | 100 | 100 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q7Z628 | 85 | 121 | 106 | 106 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 |
| Q7Z628 | 177 | 198 | 1 | 596 | Chain | ID=PRO_0000080924;Note=Neuroepithelial cell-transforming gene 1 protein |
| Q7Z628 | 177 | 198 | 174 | 356 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q7Z628 | 177 | 198 | 170 | 199 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XH9 |
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SNVs in the skipped exons for NET1 |
| - 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-A3A0-01 | exon_skip_39308 | 5494788 | 5494883 | 5494831 | 5494831 | Frame_Shift_Del | A | - | p.E181fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_39309 | 5494821 | 5494883 | 5494831 | 5494831 | Frame_Shift_Del | A | - | p.E181fs |
| - 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 |
| HT115_LARGE_INTESTINE | 5471133 | 5471192 | 5471167 | 5471167 | Missense_Mutation | T | C | p.V77A |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5493793 | 5493900 | 5493887 | 5493887 | Missense_Mutation | G | A | p.G117D |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 5494821 | 5494883 | 5494842 | 5494842 | Missense_Mutation | G | T | p.G185C |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 5494788 | 5494883 | 5494842 | 5494842 | Missense_Mutation | G | T | p.G185C |
| HCC1143_BREAST | 5495213 | 5495309 | 5495222 | 5495222 | Missense_Mutation | G | A | p.D202N |
| COGN305_AUTONOMIC_GANGLIA | 5494821 | 5494883 | 5494845 | 5494845 | Nonsense_Mutation | G | T | p.E186* |
| COGN305_AUTONOMIC_GANGLIA | 5494788 | 5494883 | 5494845 | 5494845 | Nonsense_Mutation | G | T | p.E186* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NET1 |
| 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 NET1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NET1 |
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RelatedDrugs for NET1 |
| 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 NET1 |
| 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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