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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 RIC3 |
 Gene summary |
| Gene information | Gene symbol | RIC3 | Gene ID | 79608 |
| Gene name | RIC3 acetylcholine receptor chaperone | |
| Synonyms | AYST720|PRO1385 | |
| Cytomap | 11p15.4 | |
| Type of gene | protein-coding | |
| Description | protein RIC-3resistance to inhibitors of cholinesterase 3-like proteinresistant to inhibitor of cholinesterase 3 | |
| Modification date | 20180523 | |
| UniProtAcc | Q7Z5B4 | |
| Context | PubMed: RIC3 [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 RIC3 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 RIC3 |
| 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 RIC3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_68570 | 11 | 8132453:8132684:8148205:8148351:8158924:8159014 | 8148205:8148351 | ENSG00000166405.10 | ENST00000524799.1,ENST00000343202.4 |
| exon_skip_68572 | 11 | 8132453:8132684:8148205:8148351:8190412:8190536 | 8148205:8148351 | ENSG00000166405.10 | ENST00000526962.1 |
| exon_skip_68573 | 11 | 8132453:8132684:8148205:8148354:8158924:8159014 | 8148205:8148354 | ENSG00000166405.10 | ENST00000309737.6,ENST00000539720.1,ENST00000528463.1 |
| exon_skip_68574 | 11 | 8132453:8132684:8148205:8148438:8158924:8159014 | 8148205:8148438 | ENSG00000166405.10 | ENST00000531450.1 |
| exon_skip_68580 | 11 | 8148205:8148351:8149765:8149901:8158924:8159014 | 8149765:8149901 | ENSG00000166405.10 | ENST00000530060.1 |
| exon_skip_68583 | 11 | 8148205:8148351:8158924:8159018:8159818:8159894 | 8158924:8159018 | ENSG00000166405.10 | ENST00000524799.1,ENST00000343202.4 |
| exon_skip_68591 | 11 | 8161513:8161740:8174921:8174970:8190412:8190536 | 8174921:8174970 | ENSG00000166405.10 | ENST00000539720.1,ENST00000528463.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RIC3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_68570 | 11 | 8132453:8132684:8148205:8148351:8158924:8159014 | 8148205:8148351 | ENSG00000166405.10 | ENST00000343202.4,ENST00000524799.1 |
| exon_skip_68572 | 11 | 8132453:8132684:8148205:8148351:8190412:8190536 | 8148205:8148351 | ENSG00000166405.10 | ENST00000526962.1 |
| exon_skip_68573 | 11 | 8132453:8132684:8148205:8148354:8158924:8159014 | 8148205:8148354 | ENSG00000166405.10 | ENST00000309737.6,ENST00000528463.1,ENST00000539720.1 |
| exon_skip_68574 | 11 | 8132453:8132684:8148205:8148438:8158924:8159014 | 8148205:8148438 | ENSG00000166405.10 | ENST00000531450.1 |
| exon_skip_68580 | 11 | 8148205:8148351:8149765:8149901:8158924:8159014 | 8149765:8149901 | ENSG00000166405.10 | ENST00000530060.1 |
| exon_skip_68583 | 11 | 8148205:8148351:8158924:8159018:8159818:8159894 | 8158924:8159018 | ENSG00000166405.10 | ENST00000343202.4,ENST00000524799.1 |
| exon_skip_68591 | 11 | 8161513:8161740:8174921:8174970:8190412:8190536 | 8174921:8174970 | ENSG00000166405.10 | ENST00000528463.1,ENST00000539720.1 |
| 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 RIC3 |
| 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 |
| ENST00000309737 | 8148205 | 8148354 | 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 |
| ENST00000309737 | 8148205 | 8148354 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RIC3 |
| 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 RIC3 |
| - 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_68572 exon_skip_68570 | 8148206 | 8148351 | 8148254 | 8148254 | Frame_Shift_Del | A | - | p.S46fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_68573 | 8148206 | 8148354 | 8148254 | 8148254 | Frame_Shift_Del | A | - | p.S46fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_68574 | 8148206 | 8148438 | 8148254 | 8148254 | Frame_Shift_Del | A | - | p.S46fs |
| HNSC | TCGA-CV-7438-01 | exon_skip_68583 | 8158925 | 8159018 | 8158952 | 8158953 | Frame_Shift_Ins | - | T | p.I165fs |
| HNSC | TCGA-CV-7438-01 | exon_skip_68583 | 8158925 | 8159018 | 8158952 | 8158953 | Frame_Shift_Ins | - | T | p.Q165fs |
| UCEC | TCGA-D1-A16X-01 | exon_skip_68572 exon_skip_68570 | 8148206 | 8148351 | 8148242 | 8148242 | Nonsense_Mutation | C | A | p.E211* |
| UCEC | TCGA-D1-A16X-01 | exon_skip_68573 | 8148206 | 8148354 | 8148242 | 8148242 | Nonsense_Mutation | C | A | p.E211* |
| UCEC | TCGA-D1-A16X-01 | exon_skip_68574 | 8148206 | 8148438 | 8148242 | 8148242 | Nonsense_Mutation | C | A | p.E211* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_68572 exon_skip_68570 | 8148206 | 8148351 | 8148302 | 8148302 | Nonsense_Mutation | G | A | p.R30* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_68573 | 8148206 | 8148354 | 8148302 | 8148302 | Nonsense_Mutation | G | A | p.R30* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_68574 | 8148206 | 8148438 | 8148302 | 8148302 | Nonsense_Mutation | G | A | p.R30* |
| LUAD | TCGA-78-7150-01 | exon_skip_68583 | 8158925 | 8159018 | 8158962 | 8158962 | Nonsense_Mutation | C | A | p.E162* |
| LUAD | TCGA-50-5049-01 | exon_skip_68583 | 8158925 | 8159018 | 8158923 | 8158923 | Splice_Site | A | T | p.S174_splice |
| - 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 |
| SW684_SOFT_TISSUE | 8148206 | 8148438 | 8148233 | 8148233 | Missense_Mutation | C | T | p.E215K |
| SW684_SOFT_TISSUE | 8148206 | 8148351 | 8148233 | 8148233 | Missense_Mutation | C | T | p.E215K |
| SW684_SOFT_TISSUE | 8148206 | 8148354 | 8148233 | 8148233 | Missense_Mutation | C | T | p.E215K |
| SKMEL28_SKIN | 8148206 | 8148438 | 8148244 | 8148244 | Missense_Mutation | T | A | p.K211I |
| SKMEL28_SKIN | 8148206 | 8148351 | 8148244 | 8148244 | Missense_Mutation | T | A | p.K211I |
| SKMEL28_SKIN | 8148206 | 8148354 | 8148244 | 8148244 | Missense_Mutation | T | A | p.K211I |
| HEC6_ENDOMETRIUM | 8148206 | 8148438 | 8148319 | 8148319 | Missense_Mutation | C | T | p.R186Q |
| HEC6_ENDOMETRIUM | 8148206 | 8148351 | 8148319 | 8148319 | Missense_Mutation | C | T | p.R186Q |
| HEC6_ENDOMETRIUM | 8148206 | 8148354 | 8148319 | 8148319 | Missense_Mutation | C | T | p.R186Q |
| NCC010_KIDNEY | 8148206 | 8148438 | 8148343 | 8148343 | Missense_Mutation | G | C | p.T178S |
| NCC010_KIDNEY | 8148206 | 8148351 | 8148343 | 8148343 | Missense_Mutation | G | C | p.T178S |
| NCC010_KIDNEY | 8148206 | 8148354 | 8148343 | 8148343 | Missense_Mutation | G | C | p.T178S |
| K2_SKIN | 8158925 | 8159018 | 8158944 | 8158944 | Missense_Mutation | C | T | p.V168M |
| LS411N_LARGE_INTESTINE | 8158925 | 8159018 | 8158956 | 8158956 | Missense_Mutation | A | T | p.L164I |
| KM12_LARGE_INTESTINE | 8158925 | 8159018 | 8158968 | 8158968 | Missense_Mutation | C | T | p.A160T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RIC3 |
| 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 |
| exon_skip_68591 | 11 | 8161513:8161740:8174921:8174970:8190412:8190536 | 8174921:8174970 | ENST00000539720.1,ENST00000528463.1 | LGG | rs10743052 | chr11:8174966 | G/A | 1.04e-24 |
| exon_skip_68591 | 11 | 8161513:8161740:8174921:8174970:8190412:8190536 | 8174921:8174970 | ENST00000539720.1,ENST00000528463.1 | THCA | rs10743052 | chr11:8174966 | G/A | 2.07e-21 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIC3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIC3 |
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RelatedDrugs for RIC3 |
| 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 |
| Q7Z5B4 | DB00277 | Theophylline | Protein RIC-3 | small molecule | approved |
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RelatedDiseases for RIC3 |
| 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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