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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 RC3H2 |
 Gene summary |
| Gene information | Gene symbol | RC3H2 | Gene ID | 54542 |
| Gene name | ring finger and CCCH-type domains 2 | |
| Synonyms | MNAB|RNF164 | |
| Cytomap | 9q33.2 | |
| Type of gene | protein-coding | |
| Description | roquin-2RING finger protein 164RING-type E3 ubiquitin transferase Roquin-2membrane associated DNA binding proteinmembrane-associated nucleic acid-binding proteinring finger and CCCH-type zinc finger domain-containing protein 2ring finger and CCCH-ty | |
| Modification date | 20180522 | |
| UniProtAcc | Q9HBD1 | |
| Context | PubMed: RC3H2 [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 |
| RC3H2 | GO:0000209 | protein polyubiquitination | 26489670 |
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Exon skipping events across known transcript of Ensembl for RC3H2 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 RC3H2 |
| 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 RC3H2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506700 | 9 | 125613378:125613508:125613601:125613715:125616230:125616365 | 125613601:125613715 | ENSG00000056586.11 | ENST00000454740.1,ENST00000357244.2,ENST00000373670.1,ENST00000498479.1 |
| exon_skip_506701 | 9 | 125618010:125618157:125620201:125620372:125620947:125621196 | 125620201:125620372 | ENSG00000056586.11 | ENST00000423239.2,ENST00000357244.2,ENST00000373670.1,ENST00000498479.1 |
| exon_skip_506703 | 9 | 125620947:125621381:125622195:125622410:125627627:125627820 | 125622195:125622410 | ENSG00000056586.11 | ENST00000423239.2,ENST00000357244.2,ENST00000373670.1,ENST00000498479.1 |
| exon_skip_506705 | 9 | 125622195:125622410:125627627:125627936:125639749:125639862 | 125627627:125627936 | ENSG00000056586.11 | ENST00000423239.2,ENST00000357244.2,ENST00000373670.1 |
| exon_skip_506706 | 9 | 125627742:125627820:125627902:125627936:125639749:125639862 | 125627902:125627936 | ENSG00000056586.11 | ENST00000373665.2,ENST00000498479.1 |
| exon_skip_506708 | 9 | 125645482:125645658:125652590:125652824:125655187:125655305 | 125652590:125652824 | ENSG00000056586.11 | ENST00000335387.5,ENST00000373665.2,ENST00000423239.2,ENST00000357244.2,ENST00000373670.1,ENST00000498479.1 |
| exon_skip_506709 | 9 | 125652590:125652824:125655187:125655305:125659557:125659813 | 125655187:125655305 | ENSG00000056586.11 | ENST00000471874.2,ENST00000335387.5,ENST00000373665.2,ENST00000423239.2,ENST00000357244.2,ENST00000498479.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RC3H2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506700 | 9 | 125613378:125613508:125613601:125613715:125616230:125616365 | 125613601:125613715 | ENSG00000056586.11 | ENST00000373670.1,ENST00000498479.1,ENST00000454740.1,ENST00000357244.2 |
| exon_skip_506701 | 9 | 125618010:125618157:125620201:125620372:125620947:125621196 | 125620201:125620372 | ENSG00000056586.11 | ENST00000373670.1,ENST00000498479.1,ENST00000357244.2,ENST00000423239.2 |
| exon_skip_506703 | 9 | 125620947:125621381:125622195:125622410:125627627:125627820 | 125622195:125622410 | ENSG00000056586.11 | ENST00000373670.1,ENST00000498479.1,ENST00000357244.2,ENST00000423239.2 |
| exon_skip_506705 | 9 | 125622195:125622410:125627627:125627936:125639749:125639862 | 125627627:125627936 | ENSG00000056586.11 | ENST00000373670.1,ENST00000357244.2,ENST00000423239.2 |
| exon_skip_506706 | 9 | 125627742:125627820:125627902:125627936:125639749:125639862 | 125627902:125627936 | ENSG00000056586.11 | ENST00000498479.1,ENST00000373665.2 |
| exon_skip_506708 | 9 | 125645482:125645658:125652590:125652824:125655187:125655305 | 125652590:125652824 | ENSG00000056586.11 | ENST00000373670.1,ENST00000498479.1,ENST00000357244.2,ENST00000423239.2,ENST00000373665.2,ENST00000335387.5 |
| exon_skip_506709 | 9 | 125652590:125652824:125655187:125655305:125659557:125659813 | 125655187:125655305 | ENSG00000056586.11 | ENST00000498479.1,ENST00000357244.2,ENST00000423239.2,ENST00000373665.2,ENST00000335387.5,ENST00000471874.2 |
| 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 RC3H2 |
| 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 |
| ENST00000357244 | 125622195 | 125622410 | Frame-shift |
| ENST00000373670 | 125622195 | 125622410 | Frame-shift |
| ENST00000357244 | 125655187 | 125655305 | Frame-shift |
| ENST00000357244 | 125613601 | 125613715 | In-frame |
| ENST00000373670 | 125613601 | 125613715 | In-frame |
| ENST00000357244 | 125620201 | 125620372 | In-frame |
| ENST00000373670 | 125620201 | 125620372 | In-frame |
| ENST00000357244 | 125627627 | 125627936 | In-frame |
| ENST00000373670 | 125627627 | 125627936 | In-frame |
| ENST00000357244 | 125652590 | 125652824 | In-frame |
| ENST00000373670 | 125652590 | 125652824 | 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 |
| ENST00000357244 | 125622195 | 125622410 | Frame-shift |
| ENST00000373670 | 125622195 | 125622410 | Frame-shift |
| ENST00000357244 | 125655187 | 125655305 | Frame-shift |
| ENST00000357244 | 125613601 | 125613715 | In-frame |
| ENST00000373670 | 125613601 | 125613715 | In-frame |
| ENST00000357244 | 125620201 | 125620372 | In-frame |
| ENST00000373670 | 125620201 | 125620372 | In-frame |
| ENST00000357244 | 125627627 | 125627936 | In-frame |
| ENST00000373670 | 125627627 | 125627936 | In-frame |
| ENST00000357244 | 125652590 | 125652824 | In-frame |
| ENST00000373670 | 125652590 | 125652824 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RC3H2 |
| 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 |
| ENST00000357244 | 4008 | 1191 | 125652590 | 125652824 | 591 | 824 | 116 | 194 |
| ENST00000373670 | 9265 | 1191 | 125652590 | 125652824 | 951 | 1184 | 116 | 194 |
| ENST00000357244 | 4008 | 1191 | 125627627 | 125627936 | 1567 | 1875 | 442 | 544 |
| ENST00000373670 | 9265 | 1191 | 125627627 | 125627936 | 1927 | 2235 | 442 | 544 |
| ENST00000357244 | 4008 | 1191 | 125620201 | 125620372 | 2525 | 2695 | 761 | 818 |
| ENST00000373670 | 9265 | 1191 | 125620201 | 125620372 | 2885 | 3055 | 761 | 818 |
| ENST00000357244 | 4008 | 1191 | 125613601 | 125613715 | 3359 | 3472 | 1039 | 1077 |
| ENST00000373670 | 9265 | 1191 | 125613601 | 125613715 | 3719 | 3832 | 1039 | 1077 |
| 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 |
| ENST00000357244 | 4008 | 1191 | 125652590 | 125652824 | 591 | 824 | 116 | 194 |
| ENST00000373670 | 9265 | 1191 | 125652590 | 125652824 | 951 | 1184 | 116 | 194 |
| ENST00000357244 | 4008 | 1191 | 125627627 | 125627936 | 1567 | 1875 | 442 | 544 |
| ENST00000373670 | 9265 | 1191 | 125627627 | 125627936 | 1927 | 2235 | 442 | 544 |
| ENST00000357244 | 4008 | 1191 | 125620201 | 125620372 | 2525 | 2695 | 761 | 818 |
| ENST00000373670 | 9265 | 1191 | 125620201 | 125620372 | 2885 | 3055 | 761 | 818 |
| ENST00000357244 | 4008 | 1191 | 125613601 | 125613715 | 3359 | 3472 | 1039 | 1077 |
| ENST00000373670 | 9265 | 1191 | 125613601 | 125613715 | 3719 | 3832 | 1039 | 1077 |
| 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 RC3H2 |
| - 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. |
RC3H2_LUSC_exon_skip_506700_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-A3A0-01 | exon_skip_506703 | 125622196 | 125622410 | 125622311 | 125622311 | Frame_Shift_Del | T | - | p.K578fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_506705 | 125627628 | 125627936 | 125627838 | 125627838 | Frame_Shift_Del | T | - | p.N475fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_506708 | 125652591 | 125652824 | 125652757 | 125652757 | Frame_Shift_Del | G | - | p.C140fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_506708 | 125652591 | 125652824 | 125652757 | 125652757 | Frame_Shift_Del | G | - | p.N139fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_506708 | 125652591 | 125652824 | 125652788 | 125652788 | Frame_Shift_Del | G | - | p.P129fs |
| COAD | TCGA-G4-6586-01 | exon_skip_506709 | 125655188 | 125655305 | 125655207 | 125655207 | Frame_Shift_Del | T | - | p.P111fs |
| UCEC | TCGA-D1-A0ZR-01 | exon_skip_506709 | 125655188 | 125655305 | 125655293 | 125655294 | Frame_Shift_Del | GA | - | p.H81fs |
| LUSC | TCGA-66-2787-01 | exon_skip_506700 | 125613602 | 125613715 | 125613661 | 125613661 | Nonsense_Mutation | C | A | p.E1058* |
| KICH | TCGA-KN-8423-01 | exon_skip_506701 | 125620202 | 125620372 | 125620200 | 125620200 | Splice_Site | A | G | p.D818_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-66-2787-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_506700 | |
| Skipped exon start: 125613602 | |
| Skipped exon end: 125613715 | |
| Mutation start: 125613661 | |
| Mutation end: 125613661 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E1058* | |
exon_skip_112857_LUSC_TCGA-66-2787-01.png | |
exon_skip_124924_LUSC_TCGA-66-2787-01.png | |
exon_skip_506700_LUSC_TCGA-66-2787-01.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 |
| MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125627628 | 125627936 | 125627858 | 125627859 | In_Frame_Ins | - | AAT | p.468_469insF |
| HS737T_FIBROBLAST | 125613602 | 125613715 | 125613646 | 125613646 | Missense_Mutation | C | G | p.A1063P |
| SNU1040_LARGE_INTESTINE | 125613602 | 125613715 | 125613670 | 125613670 | Missense_Mutation | T | C | p.R1055G |
| LOVO_LARGE_INTESTINE | 125620202 | 125620372 | 125620206 | 125620206 | Missense_Mutation | G | A | p.A817V |
| SNU1040_LARGE_INTESTINE | 125620202 | 125620372 | 125620206 | 125620206 | Missense_Mutation | G | A | p.A817V |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125620202 | 125620372 | 125620267 | 125620267 | Missense_Mutation | G | A | p.L797F |
| 786O_KIDNEY | 125620202 | 125620372 | 125620285 | 125620285 | Missense_Mutation | G | A | p.P791S |
| SW1271_LUNG | 125620202 | 125620372 | 125620318 | 125620318 | Missense_Mutation | C | T | p.D780N |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125620202 | 125620372 | 125620365 | 125620365 | Missense_Mutation | C | T | p.C764Y |
| SLR25_KIDNEY | 125620202 | 125620372 | 125620365 | 125620365 | Missense_Mutation | C | T | p.C764Y |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125622196 | 125622410 | 125622232 | 125622232 | Missense_Mutation | G | C | p.Q605E |
| CAL148_BREAST | 125622196 | 125622410 | 125622256 | 125622256 | Missense_Mutation | G | T | p.Q597K |
| CAL148_BREAST | 125622196 | 125622410 | 125622256 | 125622257 | Missense_Mutation | GA | TT | p.Q597K |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125622196 | 125622410 | 125622261 | 125622261 | Missense_Mutation | T | C | p.N595S |
| CAL148_BREAST | 125622196 | 125622410 | 125622267 | 125622267 | Missense_Mutation | G | A | p.S593F |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125622196 | 125622410 | 125622273 | 125622273 | Missense_Mutation | G | T | p.P591Q |
| KYSE50_OESOPHAGUS | 125622196 | 125622410 | 125622286 | 125622286 | Missense_Mutation | G | C | p.P587A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125622196 | 125622410 | 125622343 | 125622343 | Missense_Mutation | C | A | p.V568F |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125622196 | 125622410 | 125622372 | 125622372 | Missense_Mutation | A | G | p.V558A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 125622196 | 125622410 | 125622372 | 125622372 | Missense_Mutation | A | G | p.V558A |
| 8MGBA_CENTRAL_NERVOUS_SYSTEM | 125622196 | 125622410 | 125622382 | 125622382 | Missense_Mutation | C | T | p.V555I |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125627628 | 125627936 | 125627667 | 125627667 | Missense_Mutation | T | C | p.Q532R |
| GP2D_LARGE_INTESTINE | 125627628 | 125627936 | 125627704 | 125627704 | Missense_Mutation | T | C | p.T520A |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125627628 | 125627936 | 125627736 | 125627736 | Missense_Mutation | C | T | p.R509H |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125627628 | 125627936 | 125627791 | 125627791 | Missense_Mutation | G | C | p.P491A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125627628 | 125627936 | 125627862 | 125627862 | Missense_Mutation | T | C | p.N467S |
| CCK81_LARGE_INTESTINE | 125652591 | 125652824 | 125652626 | 125652626 | Missense_Mutation | G | A | p.A183V |
| HCT15_LARGE_INTESTINE | 125652591 | 125652824 | 125652591 | 125652591 | Splice_Site | C | A | p.A195S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RC3H2 |
| 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_506708 | 9 | 125645482:125645658:125652590:125652824:125655187:125655305 | 125652590:125652824 | ENST00000335387.5,ENST00000373665.2,ENST00000423239.2,ENST00000357244.2,ENST00000373670.1,ENST00000498479.1 | COAD | rs10818759 | chr9:125652757 | G/A | 1.09e-04 |
| exon_skip_506708 | 9 | 125645482:125645658:125652590:125652824:125655187:125655305 | 125652590:125652824 | ENST00000335387.5,ENST00000373665.2,ENST00000423239.2,ENST00000357244.2,ENST00000373670.1,ENST00000498479.1 | LUAD | rs10818759 | chr9:125652757 | G/A | 1.68e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RC3H2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RC3H2 |
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RelatedDrugs for RC3H2 |
| 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 RC3H2 |
| 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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