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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 RTN4 |
 Gene summary |
| Gene information | Gene symbol | RTN4 | Gene ID | 57142 |
| Gene name | reticulon 4 | |
| Synonyms | ASY|NI220/250|NOGO|NSP|NSP-CL|Nbla00271|Nbla10545|RTN-X|RTN4-A|RTN4-B1|RTN4-B2|RTN4-C | |
| Cytomap | 2p16.1 | |
| Type of gene | protein-coding | |
| Description | reticulon-4Human NogoAMy043 proteinfoocenneurite growth inhibitor 220neurite outgrowth inhibitorneuroendocrine-specific protein C homologreticulon 5 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NQC3 | |
| Context | PubMed: RTN4 [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 |
| RTN4 | GO:0030517 | negative regulation of axon extension | 10667797 |
| RTN4 | GO:0071787 | endoplasmic reticulum tubular network formation | 24262037|25612671 |
| RTN4 | GO:1905552 | positive regulation of protein localization to endoplasmic reticulum | 27353365 |
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Exon skipping events across known transcript of Ensembl for RTN4 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 RTN4 |
| 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 RTN4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_339024 | 2 | 55199949:55200334:55200698:55200757:55200956:55201003 | 55200698:55200757 | ENSG00000115310.13 | ENST00000485749.1,ENST00000354474.6,ENST00000317610.7,ENST00000357732.4,ENST00000405240.1,ENST00000394611.2,ENST00000404909.1,ENST00000394609.2,ENST00000357376.3,ENST00000402434.2,ENST00000337526.6 |
| exon_skip_339025 | 2 | 55199949:55200334:55200698:55200757:55209650:55209789 | 55200698:55200757 | ENSG00000115310.13 | ENST00000486085.1 |
| exon_skip_339030 | 2 | 55200698:55200757:55200956:55201003:55201830:55201899 | 55200956:55201003 | ENSG00000115310.13 | ENST00000354474.6,ENST00000317610.7,ENST00000438462.1,ENST00000357732.4,ENST00000405240.1,ENST00000394611.2,ENST00000404909.1,ENST00000394609.2,ENST00000357376.3,ENST00000402434.2,ENST00000337526.6 |
| exon_skip_339039 | 2 | 55200956:55201003:55201830:55201900:55209650:55209789 | 55201830:55201900 | ENSG00000115310.13 | ENST00000354474.6,ENST00000317610.7,ENST00000438462.1,ENST00000357732.4,ENST00000405240.1,ENST00000394611.2,ENST00000404909.1,ENST00000394609.2,ENST00000357376.3,ENST00000402434.2,ENST00000337526.6 |
| exon_skip_339041 | 2 | 55209650:55209789:55214626:55214834:55276880:55277350 | 55214626:55214834 | ENSG00000115310.13 | ENST00000317610.7,ENST00000402434.2 |
| exon_skip_339045 | 2 | 55214626:55214834:55252221:55254621:55255299:55255356 | 55252221:55254621 | ENSG00000115310.13 | ENST00000405240.1,ENST00000394611.2,ENST00000404909.1,ENST00000357376.3,ENST00000337526.6 |
| exon_skip_339051 | 2 | 55214626:55214834:55255299:55255356:55276880:55277350 | 55255299:55255356 | ENSG00000115310.13 | ENST00000357732.4 |
| exon_skip_339057 | 2 | 55254342:55254621:55255299:55255356:55276880:55277350 | 55255299:55255356 | ENSG00000115310.13 | ENST00000337526.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RTN4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_339024 | 2 | 55199949:55200334:55200698:55200757:55200956:55201003 | 55200698:55200757 | ENSG00000115310.13 | ENST00000394609.2,ENST00000405240.1,ENST00000357376.3,ENST00000337526.6,ENST00000317610.7,ENST00000357732.4,ENST00000394611.2,ENST00000404909.1,ENST00000485749.1,ENST00000402434.2,ENST00000354474.6 |
| exon_skip_339025 | 2 | 55199949:55200334:55200698:55200757:55209650:55209789 | 55200698:55200757 | ENSG00000115310.13 | ENST00000486085.1 |
| exon_skip_339030 | 2 | 55200698:55200757:55200956:55201003:55201830:55201899 | 55200956:55201003 | ENSG00000115310.13 | ENST00000394609.2,ENST00000405240.1,ENST00000357376.3,ENST00000337526.6,ENST00000317610.7,ENST00000357732.4,ENST00000394611.2,ENST00000404909.1,ENST00000402434.2,ENST00000354474.6,ENST00000438462.1 |
| exon_skip_339039 | 2 | 55200956:55201003:55201830:55201900:55209650:55209789 | 55201830:55201900 | ENSG00000115310.13 | ENST00000394609.2,ENST00000405240.1,ENST00000357376.3,ENST00000337526.6,ENST00000317610.7,ENST00000357732.4,ENST00000394611.2,ENST00000404909.1,ENST00000402434.2,ENST00000354474.6,ENST00000438462.1 |
| exon_skip_339041 | 2 | 55209650:55209789:55214626:55214834:55276880:55277350 | 55214626:55214834 | ENSG00000115310.13 | ENST00000317610.7,ENST00000402434.2 |
| exon_skip_339045 | 2 | 55214626:55214834:55252221:55254621:55255299:55255356 | 55252221:55254621 | ENSG00000115310.13 | ENST00000405240.1,ENST00000357376.3,ENST00000337526.6,ENST00000394611.2,ENST00000404909.1 |
| exon_skip_339051 | 2 | 55214626:55214834:55255299:55255356:55276880:55277350 | 55255299:55255356 | ENSG00000115310.13 | ENST00000357732.4 |
| exon_skip_339057 | 2 | 55254342:55254621:55255299:55255356:55276880:55277350 | 55255299:55255356 | ENSG00000115310.13 | ENST00000337526.6 |
| exon_skip_339058 | 2 | 55283618:55283693:55287741:55287889:55307624:55307775 | 55287741:55287889 | ENSG00000115310.13 | ENST00000461004.1 |
| 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 RTN4 |
| 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 |
| ENST00000337526 | 55200698 | 55200757 | Frame-shift |
| ENST00000337526 | 55200956 | 55201003 | Frame-shift |
| ENST00000337526 | 55201830 | 55201900 | Frame-shift |
| ENST00000337526 | 55252221 | 55254621 | In-frame |
| ENST00000337526 | 55255299 | 55255356 | 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 |
| ENST00000337526 | 55200698 | 55200757 | Frame-shift |
| ENST00000337526 | 55200956 | 55201003 | Frame-shift |
| ENST00000337526 | 55201830 | 55201900 | Frame-shift |
| ENST00000337526 | 55252221 | 55254621 | In-frame |
| ENST00000337526 | 55255299 | 55255356 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RTN4 |
| 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 |
| ENST00000337526 | 4807 | 1192 | 55255299 | 55255356 | 801 | 857 | 185 | 204 |
| ENST00000337526 | 4807 | 1192 | 55252221 | 55254621 | 858 | 3257 | 204 | 1004 |
| 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 |
| ENST00000337526 | 4807 | 1192 | 55255299 | 55255356 | 801 | 857 | 185 | 204 |
| ENST00000337526 | 4807 | 1192 | 55252221 | 55254621 | 858 | 3257 | 204 | 1004 |
| 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 RTN4 |
| - 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. |
RTN4_COAD_exon_skip_339045_psi_boxplot.png |
RTN4_HNSC_exon_skip_339045_psi_boxplot.png |
RTN4_LGG_exon_skip_339045_psi_boxplot.png |
RTN4_LIHC_exon_skip_339045_psi_boxplot.png |
RTN4_LUAD_exon_skip_339045_psi_boxplot.png |
RTN4_PCPG_exon_skip_339045_psi_boxplot.png |
RTN4_PRAD_exon_skip_339045_psi_boxplot.png |
RTN4_SARC_exon_skip_339045_psi_boxplot.png |
RTN4_STAD_exon_skip_339045_psi_boxplot.png |
| - 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_339039 | 55201831 | 55201900 | 55201854 | 55201854 | Frame_Shift_Del | T | - | p.N1136fs |
| BRCA | TCGA-E2-A15P-01 | exon_skip_339041 | 55214627 | 55214834 | 55214698 | 55214699 | Frame_Shift_Del | CA | - | p.V1050fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_339045 | 55252222 | 55254621 | 55252295 | 55252295 | Frame_Shift_Del | T | - | p.K980fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_339045 | 55252222 | 55254621 | 55252295 | 55252295 | Frame_Shift_Del | T | - | p.K980fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339045 | 55252222 | 55254621 | 55252753 | 55252753 | Frame_Shift_Del | T | - | p.I828fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339045 | 55252222 | 55254621 | 55252761 | 55252761 | Frame_Shift_Del | T | - | p.K825fs |
| PCPG | TCGA-WB-A81H-01 | exon_skip_339045 | 55252222 | 55254621 | 55252907 | 55252910 | Frame_Shift_Del | AAAT | - | p.776_777del |
| PCPG | TCGA-WB-A81H-01 | exon_skip_339045 | 55252222 | 55254621 | 55252907 | 55252910 | Frame_Shift_Del | AAAT | - | p.SF775fs |
| COAD | TCGA-CM-4746-01 | exon_skip_339045 | 55252222 | 55254621 | 55253228 | 55253228 | Frame_Shift_Del | T | - | p.V464fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_339045 | 55252222 | 55254621 | 55253228 | 55253228 | Frame_Shift_Del | T | - | p.K669fs |
| UCEC | TCGA-AP-A0LT-01 | exon_skip_339045 | 55252222 | 55254621 | 55253228 | 55253228 | Frame_Shift_Del | T | - | p.K669fs |
| COAD | TCGA-A6-6651-01 | exon_skip_339045 | 55252222 | 55254621 | 55253746 | 55253746 | Frame_Shift_Del | T | - | p.I497fs |
| COAD | TCGA-F4-6808-01 | exon_skip_339045 | 55252222 | 55254621 | 55253746 | 55253746 | Frame_Shift_Del | T | - | p.I497fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_339045 | 55252222 | 55254621 | 55253746 | 55253746 | Frame_Shift_Del | T | - | p.I497fs |
| STAD | TCGA-BR-4257-01 | exon_skip_339045 | 55252222 | 55254621 | 55253746 | 55253746 | Frame_Shift_Del | T | - | p.I497fs |
| STAD | TCGA-BR-4292-01 | exon_skip_339045 | 55252222 | 55254621 | 55253746 | 55253746 | Frame_Shift_Del | T | - | p.I497fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339045 | 55252222 | 55254621 | 55254255 | 55254255 | Frame_Shift_Del | T | - | p.N327fs |
| SARC | TCGA-UE-A6QU-01 | exon_skip_339045 | 55252222 | 55254621 | 55254362 | 55254363 | Frame_Shift_Del | CT | - | p.E291fs |
| COAD | TCGA-AD-5900-01 | exon_skip_339045 | 55252222 | 55254621 | 55254374 | 55254377 | Frame_Shift_Del | TCTA | - | p.287_288del |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339045 | 55252222 | 55254621 | 55254556 | 55254556 | Frame_Shift_Del | C | - | p.V227fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_339045 | 55252222 | 55254621 | 55252294 | 55252295 | Frame_Shift_Ins | - | T | p.NS980fs |
| COAD | TCGA-CM-6171-01 | exon_skip_339045 | 55252222 | 55254621 | 55253227 | 55253228 | Frame_Shift_Ins | - | T | p.V670fs |
| LGG | TCGA-HT-7480-01 | exon_skip_339045 | 55252222 | 55254621 | 55253745 | 55253746 | Frame_Shift_Ins | - | T | p.R497fs |
| LGG | TCGA-S9-A7R8-01 | exon_skip_339045 | 55252222 | 55254621 | 55253745 | 55253746 | Frame_Shift_Ins | - | T | p.R497fs |
| MESO | TCGA-MQ-A6BQ-01 | exon_skip_339045 | 55252222 | 55254621 | 55253745 | 55253746 | Frame_Shift_Ins | - | T | p.R497fs |
| PCPG | TCGA-QR-A700-01 | exon_skip_339045 | 55252222 | 55254621 | 55253745 | 55253746 | Frame_Shift_Ins | - | T | p.R497fs |
| PRAD | TCGA-G9-7523-01 | exon_skip_339045 | 55252222 | 55254621 | 55253745 | 55253746 | Frame_Shift_Ins | - | T | p.R497fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_339045 | 55252222 | 55254621 | 55254142 | 55254143 | Frame_Shift_Ins | - | T | p.NK364fs |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_339045 | 55252222 | 55254621 | 55252495 | 55252495 | Nonsense_Mutation | C | A | p.E914* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_339045 | 55252222 | 55254621 | 55252930 | 55252930 | Nonsense_Mutation | C | A | p.E769* |
| BLCA | TCGA-XF-AAN0-01 | exon_skip_339045 | 55252222 | 55254621 | 55253542 | 55253542 | Nonsense_Mutation | C | A | p.E565* |
| COAD | TCGA-AA-3514-01 | exon_skip_339045 | 55252222 | 55254621 | 55253659 | 55253659 | Nonsense_Mutation | C | A | p.E526X |
| LUAD | TCGA-44-7670-01 | exon_skip_339045 | 55252222 | 55254621 | 55253785 | 55253785 | Nonsense_Mutation | C | A | p.G484* |
| COAD | TCGA-AA-A00R-01 | exon_skip_339045 | 55252222 | 55254621 | 55254061 | 55254061 | Nonsense_Mutation | G | A | p.R392X |
| COAD | TCGA-AA-3510-01 | exon_skip_339045 | 55252222 | 55254621 | 55254493 | 55254493 | Nonsense_Mutation | C | A | p.E248X |
| HNSC | TCGA-T3-A92M-01 | exon_skip_339045 | 55252222 | 55254621 | 55254574 | 55254574 | Nonsense_Mutation | G | A | p.Q221* |
| OV | TCGA-23-1117-01 | exon_skip_339041 | 55214627 | 55214834 | 55214836 | 55214836 | Splice_Site | T | C | e4-2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AA-3514-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339045 | |
| Skipped exon start: 55252222 | |
| Skipped exon end: 55254621 | |
| Mutation start: 55253659 | |
| Mutation end: 55253659 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E526X | |
exon_skip_339045_COAD_TCGA-AA-3514-01.png | |
 | Sample: TCGA-T3-A92M-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_339045 | |
| Skipped exon start: 55252222 | |
| Skipped exon end: 55254621 | |
| Mutation start: 55254574 | |
| Mutation end: 55254574 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q221* | |
exon_skip_2441_HNSC_TCGA-T3-A92M-01.png | |
exon_skip_339045_HNSC_TCGA-T3-A92M-01.png | |
exon_skip_449028_HNSC_TCGA-T3-A92M-01.png | |
 | Sample: TCGA-44-7670-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_339045 | |
| Skipped exon start: 55252222 | |
| Skipped exon end: 55254621 | |
| Mutation start: 55253785 | |
| Mutation end: 55253785 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G484* | |
exon_skip_132551_LUAD_TCGA-44-7670-01.png | |
exon_skip_146286_LUAD_TCGA-44-7670-01.png | |
exon_skip_322423_LUAD_TCGA-44-7670-01.png | |
exon_skip_339045_LUAD_TCGA-44-7670-01.png | |
 | Sample: TCGA-A6-6651-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339045 | |
| Skipped exon start: 55252222 | |
| Skipped exon end: 55254621 | |
| Mutation start: 55253746 | |
| Mutation end: 55253746 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.I497fs | |
exon_skip_339045_COAD_TCGA-A6-6651-01.png | |
 | Sample: TCGA-BC-A112-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_339045 | |
| Skipped exon start: 55252222 | |
| Skipped exon end: 55254621 | |
| Mutation start: 55252294 | |
| Mutation end: 55252295 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.NS980fs | |
| Sample: TCGA-BC-A112-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_339045 | |
| Skipped exon start: 55252222 | |
| Skipped exon end: 55254621 | |
| Mutation start: 55254142 | |
| Mutation end: 55254143 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.NK364fs | |
exon_skip_114200_LIHC_TCGA-BC-A112-01.png | |
exon_skip_131894_LIHC_TCGA-BC-A112-01.png | |
exon_skip_135820_LIHC_TCGA-BC-A112-01.png | |
exon_skip_138911_LIHC_TCGA-BC-A112-01.png | |
exon_skip_141587_LIHC_TCGA-BC-A112-01.png | |
exon_skip_142606_LIHC_TCGA-BC-A112-01.png | |
exon_skip_146695_LIHC_TCGA-BC-A112-01.png | |
exon_skip_146697_LIHC_TCGA-BC-A112-01.png | |
exon_skip_152962_LIHC_TCGA-BC-A112-01.png | |
exon_skip_155765_LIHC_TCGA-BC-A112-01.png | |
exon_skip_1757_LIHC_TCGA-BC-A112-01.png | |
exon_skip_1879_LIHC_TCGA-BC-A112-01.png | |
exon_skip_1881_LIHC_TCGA-BC-A112-01.png | |
exon_skip_266_LIHC_TCGA-BC-A112-01.png | |
exon_skip_284527_LIHC_TCGA-BC-A112-01.png | |
exon_skip_286998_LIHC_TCGA-BC-A112-01.png | |
exon_skip_293546_LIHC_TCGA-BC-A112-01.png | |
exon_skip_293549_LIHC_TCGA-BC-A112-01.png | |
exon_skip_306900_LIHC_TCGA-BC-A112-01.png | |
exon_skip_311841_LIHC_TCGA-BC-A112-01.png | |
exon_skip_325884_LIHC_TCGA-BC-A112-01.png | |
exon_skip_326432_LIHC_TCGA-BC-A112-01.png | |
exon_skip_32825_LIHC_TCGA-BC-A112-01.png | |
exon_skip_331787_LIHC_TCGA-BC-A112-01.png | |
exon_skip_337208_LIHC_TCGA-BC-A112-01.png | |
exon_skip_337747_LIHC_TCGA-BC-A112-01.png | |
exon_skip_339045_LIHC_TCGA-BC-A112-01.png | |
exon_skip_344031_LIHC_TCGA-BC-A112-01.png | |
exon_skip_35548_LIHC_TCGA-BC-A112-01.png | |
exon_skip_35556_LIHC_TCGA-BC-A112-01.png | |
exon_skip_359720_LIHC_TCGA-BC-A112-01.png | |
exon_skip_37056_LIHC_TCGA-BC-A112-01.png | |
exon_skip_37483_LIHC_TCGA-BC-A112-01.png | |
exon_skip_37491_LIHC_TCGA-BC-A112-01.png | |
exon_skip_375724_LIHC_TCGA-BC-A112-01.png | |
exon_skip_378789_LIHC_TCGA-BC-A112-01.png | |
exon_skip_386291_LIHC_TCGA-BC-A112-01.png | |
exon_skip_41850_LIHC_TCGA-BC-A112-01.png | |
exon_skip_435931_LIHC_TCGA-BC-A112-01.png | |
exon_skip_436296_LIHC_TCGA-BC-A112-01.png | |
exon_skip_438393_LIHC_TCGA-BC-A112-01.png | |
exon_skip_443977_LIHC_TCGA-BC-A112-01.png | |
exon_skip_444190_LIHC_TCGA-BC-A112-01.png | |
exon_skip_44538_LIHC_TCGA-BC-A112-01.png | |
exon_skip_449944_LIHC_TCGA-BC-A112-01.png | |
exon_skip_458520_LIHC_TCGA-BC-A112-01.png | |
exon_skip_460075_LIHC_TCGA-BC-A112-01.png | |
exon_skip_472635_LIHC_TCGA-BC-A112-01.png | |
exon_skip_489149_LIHC_TCGA-BC-A112-01.png | |
exon_skip_492152_LIHC_TCGA-BC-A112-01.png | |
exon_skip_49506_LIHC_TCGA-BC-A112-01.png | |
exon_skip_5044_LIHC_TCGA-BC-A112-01.png | |
exon_skip_512559_LIHC_TCGA-BC-A112-01.png | |
exon_skip_514460_LIHC_TCGA-BC-A112-01.png | |
exon_skip_514990_LIHC_TCGA-BC-A112-01.png | |
exon_skip_55171_LIHC_TCGA-BC-A112-01.png | |
exon_skip_55175_LIHC_TCGA-BC-A112-01.png | |
exon_skip_56847_LIHC_TCGA-BC-A112-01.png | |
exon_skip_57586_LIHC_TCGA-BC-A112-01.png | |
exon_skip_57892_LIHC_TCGA-BC-A112-01.png | |
exon_skip_58035_LIHC_TCGA-BC-A112-01.png | |
exon_skip_6399_LIHC_TCGA-BC-A112-01.png | |
exon_skip_77132_LIHC_TCGA-BC-A112-01.png | |
 | Sample: TCGA-WB-A81H-01 |
| Cancer type: PCPG | |
| ESID: exon_skip_339045 | |
| Skipped exon start: 55252222 | |
| Skipped exon end: 55254621 | |
| Mutation start: 55252907 | |
| Mutation end: 55252910 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: AAAT | |
| Mutation seq: - | |
| AAchange: p.776_777del | |
| Sample: TCGA-WB-A81H-01 |
| Cancer type: PCPG | |
| ESID: exon_skip_339045 | |
| Skipped exon start: 55252222 | |
| Skipped exon end: 55254621 | |
| Mutation start: 55252907 | |
| Mutation end: 55252910 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: AAAT | |
| Mutation seq: - | |
| AAchange: p.SF775fs | |
exon_skip_339045_PCPG_TCGA-WB-A81H-01.png | |
 | Sample: TCGA-QR-A700-01 |
| Cancer type: PCPG | |
| ESID: exon_skip_339045 | |
| Skipped exon start: 55252222 | |
| Skipped exon end: 55254621 | |
| Mutation start: 55253745 | |
| Mutation end: 55253746 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.R497fs | |
exon_skip_339045_PCPG_TCGA-QR-A700-01.png | |
exon_skip_478693_PCPG_TCGA-QR-A700-01.png | |
 | Sample: TCGA-G9-7523-01 |
| Cancer type: PRAD | |
| ESID: exon_skip_339045 | |
| Skipped exon start: 55252222 | |
| Skipped exon end: 55254621 | |
| Mutation start: 55253745 | |
| Mutation end: 55253746 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.R497fs | |
exon_skip_339045_PRAD_TCGA-G9-7523-01.png | |
 | Sample: TCGA-UE-A6QU-01 |
| Cancer type: SARC | |
| ESID: exon_skip_339045 | |
| Skipped exon start: 55252222 | |
| Skipped exon end: 55254621 | |
| Mutation start: 55254362 | |
| Mutation end: 55254363 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CT | |
| Mutation seq: - | |
| AAchange: p.E291fs | |
exon_skip_339045_SARC_TCGA-UE-A6QU-01.png | |
 | Sample: TCGA-BR-4257-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339045 | |
| Skipped exon start: 55252222 | |
| Skipped exon end: 55254621 | |
| Mutation start: 55253746 | |
| Mutation end: 55253746 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.I497fs | |
exon_skip_139149_STAD_TCGA-BR-4257-01.png | |
exon_skip_339045_STAD_TCGA-BR-4257-01.png | |
exon_skip_368225_STAD_TCGA-BR-4257-01.png | |
exon_skip_432182_STAD_TCGA-BR-4257-01.png | |
exon_skip_432188_STAD_TCGA-BR-4257-01.png | |
exon_skip_478221_STAD_TCGA-BR-4257-01.png | |
exon_skip_478228_STAD_TCGA-BR-4257-01.png | |
exon_skip_483956_STAD_TCGA-BR-4257-01.png | |
exon_skip_5861_STAD_TCGA-BR-4257-01.png | |
exon_skip_69974_STAD_TCGA-BR-4257-01.png | |
exon_skip_94842_STAD_TCGA-BR-4257-01.png | |
exon_skip_94844_STAD_TCGA-BR-4257-01.png | |
| - 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 |
| NCIH1568_LUNG | 55252222 | 55254621 | 55252524 | 55252524 | Frame_Shift_Del | G | - | p.P904fs |
| HCE4_OESOPHAGUS | 55252222 | 55254621 | 55253047 | 55253047 | Frame_Shift_Del | C | - | p.D730fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55253228 | 55253228 | Frame_Shift_Del | T | - | p.K669fs |
| HEC59_ENDOMETRIUM | 55252222 | 55254621 | 55253228 | 55253228 | Frame_Shift_Del | T | - | p.K669fs |
| CCK81_LARGE_INTESTINE | 55252222 | 55254621 | 55253228 | 55253228 | Frame_Shift_Del | T | - | p.K669fs |
| SKUT1_SOFT_TISSUE | 55252222 | 55254621 | 55253228 | 55253228 | Frame_Shift_Del | T | - | p.K669fs |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55253264 | 55253265 | Frame_Shift_Ins | - | G | p.P657fs |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55253264 | 55253265 | Frame_Shift_Ins | - | G | p.P657fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 55252222 | 55254621 | 55252252 | 55252254 | In_Frame_Del | TAG | - | p.994_995AI>V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 55252222 | 55254621 | 55252260 | 55252261 | In_Frame_Ins | - | TCA | p.992_992P>LT |
| HS445_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55214627 | 55214834 | 55214675 | 55214675 | Missense_Mutation | T | A | p.K1058M |
| HCC70_BREAST | 55214627 | 55214834 | 55214759 | 55214759 | Missense_Mutation | G | A | p.S1030L |
| CW2_LARGE_INTESTINE | 55214627 | 55214834 | 55214793 | 55214793 | Missense_Mutation | C | T | p.V1019M |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 55252222 | 55254621 | 55252233 | 55252233 | Missense_Mutation | C | T | p.S1001N |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55252321 | 55252321 | Missense_Mutation | C | T | p.V972I |
| KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55252326 | 55252326 | Missense_Mutation | G | A | p.P970L |
| HEC59_ENDOMETRIUM | 55252222 | 55254621 | 55252338 | 55252338 | Missense_Mutation | C | T | p.S966N |
| SNUC2B_LARGE_INTESTINE | 55252222 | 55254621 | 55252469 | 55252469 | Missense_Mutation | C | A | p.K922N |
| SKMEL3_SKIN | 55252222 | 55254621 | 55252764 | 55252764 | Missense_Mutation | T | C | p.K824R |
| CHL1_SKIN | 55252222 | 55254621 | 55252873 | 55252873 | Missense_Mutation | G | A | p.L788F |
| HMCB_SKIN | 55252222 | 55254621 | 55252873 | 55252873 | Missense_Mutation | G | A | p.L788F |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55252874 | 55252874 | Missense_Mutation | T | A | p.K787N |
| SNU840_OVARY | 55252222 | 55254621 | 55252912 | 55252912 | Missense_Mutation | A | C | p.S775A |
| WM793_SKIN | 55252222 | 55254621 | 55252924 | 55252924 | Missense_Mutation | G | T | p.L771I |
| MFE319_ENDOMETRIUM | 55252222 | 55254621 | 55252954 | 55252954 | Missense_Mutation | C | T | p.D761N |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55252974 | 55252974 | Missense_Mutation | G | T | p.P754H |
| CAL78_BONE | 55252222 | 55254621 | 55253136 | 55253136 | Missense_Mutation | T | G | p.D700A |
| SKLU1_LUNG | 55252222 | 55254621 | 55253164 | 55253164 | Missense_Mutation | C | T | p.E691K |
| SNU182_LIVER | 55252222 | 55254621 | 55253209 | 55253209 | Missense_Mutation | C | T | p.E676K |
| SNU46_UPPER_AERODIGESTIVE_TRACT | 55252222 | 55254621 | 55253290 | 55253290 | Missense_Mutation | T | C | p.I649V |
| SNU489_CENTRAL_NERVOUS_SYSTEM | 55252222 | 55254621 | 55253290 | 55253290 | Missense_Mutation | T | C | p.I649V |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55253293 | 55253293 | Missense_Mutation | T | A | p.S648C |
| GI1_CENTRAL_NERVOUS_SYSTEM | 55252222 | 55254621 | 55253409 | 55253409 | Missense_Mutation | G | A | p.P609L |
| MCC13_SKIN | 55252222 | 55254621 | 55253443 | 55253443 | Missense_Mutation | G | A | p.P598S |
| HS616T_FIBROBLAST | 55252222 | 55254621 | 55253478 | 55253478 | Missense_Mutation | A | T | p.M586K |
| HEC108_ENDOMETRIUM | 55252222 | 55254621 | 55253589 | 55253589 | Missense_Mutation | C | T | p.G549D |
| JHUEM7_ENDOMETRIUM | 55252222 | 55254621 | 55253634 | 55253634 | Missense_Mutation | T | G | p.N534T |
| ASH3_THYROID | 55252222 | 55254621 | 55253656 | 55253656 | Missense_Mutation | T | C | p.T527A |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55253865 | 55253865 | Missense_Mutation | C | T | p.R457H |
| CW2_LARGE_INTESTINE | 55252222 | 55254621 | 55253865 | 55253865 | Missense_Mutation | C | T | p.R457H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55253959 | 55253959 | Missense_Mutation | C | A | p.A426S |
| SNU1040_LARGE_INTESTINE | 55252222 | 55254621 | 55253976 | 55253976 | Missense_Mutation | A | G | p.V420A |
| SNU1040_LARGE_INTESTINE | 55252222 | 55254621 | 55253986 | 55253986 | Missense_Mutation | C | T | p.E417K |
| SNU466_CENTRAL_NERVOUS_SYSTEM | 55252222 | 55254621 | 55254108 | 55254108 | Missense_Mutation | A | G | p.V376A |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55254108 | 55254108 | Missense_Mutation | A | G | p.V376A |
| HCC38_BREAST | 55252222 | 55254621 | 55254127 | 55254127 | Missense_Mutation | T | C | p.N370D |
| HCC38_MATCHED_NORMAL_TISSUE | 55252222 | 55254621 | 55254127 | 55254127 | Missense_Mutation | T | C | p.N370D |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55254375 | 55254375 | Missense_Mutation | C | T | p.R287K |
| NCIH1781_LUNG | 55252222 | 55254621 | 55254514 | 55254514 | Missense_Mutation | G | A | p.L241F |
| HS618T_FIBROBLAST | 55252222 | 55254621 | 55254522 | 55254522 | Missense_Mutation | A | G | p.L238P |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55252222 | 55254621 | 55254523 | 55254523 | Missense_Mutation | G | C | p.L238V |
| HCC2998_LARGE_INTESTINE | 55255300 | 55255356 | 55255311 | 55255311 | Missense_Mutation | C | T | p.R201H |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55255300 | 55255356 | 55255311 | 55255311 | Missense_Mutation | C | G | p.R201P |
| HCC38_BREAST | 55255300 | 55255356 | 55255335 | 55255335 | Missense_Mutation | G | A | p.P193L |
| HCC38_MATCHED_NORMAL_TISSUE | 55255300 | 55255356 | 55255335 | 55255335 | Missense_Mutation | G | A | p.P193L |
| HCC2998_LARGE_INTESTINE | 55252222 | 55254621 | 55253125 | 55253125 | Nonsense_Mutation | C | A | p.E704* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RTN4 |
| 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 RTN4 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RTN4 |
Top |
RelatedDrugs for RTN4 |
| 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 |
Top |
RelatedDiseases for RTN4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RTN4 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| RTN4 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| RTN4 | C0036341 | Schizophrenia | 1 | CTD_human |
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