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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 RDX |
 Gene summary |
| Gene information | Gene symbol | RDX | Gene ID | 5962 |
| Gene name | radixin | |
| Synonyms | DFNB24 | |
| Cytomap | 11q22.3 | |
| Type of gene | protein-coding | |
| Description | radixin | |
| Modification date | 20180523 | |
| UniProtAcc | P35241 | |
| Context | PubMed: RDX [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 RDX 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 RDX |
| 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 RDX |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77302 | 11 | 110045604:110045959:110052516:110052563:110070305:110070403 | 110052516:110052563 | ENSG00000137710.10 | ENST00000530749.1 |
| exon_skip_77304 | 11 | 110066285:110066890:110070305:110070403:110102597:110102729 | 110070305:110070403 | ENSG00000137710.10 | ENST00000528900.1,ENST00000530301.1,ENST00000405097.1 |
| exon_skip_77305 | 11 | 110103961:110104204:110106823:110106916:110108216:110108377 | 110106823:110106916 | ENSG00000137710.10 | ENST00000528498.1,ENST00000544551.1,ENST00000530131.1,ENST00000530749.1,ENST00000528900.1,ENST00000532461.1,ENST00000343115.4,ENST00000530085.1,ENST00000405097.1 |
| exon_skip_77307 | 11 | 110106823:110106916:110108216:110108377:110118427:110118558 | 110108216:110108377 | ENSG00000137710.10 | ENST00000528498.1,ENST00000544551.1,ENST00000530131.1,ENST00000530749.1,ENST00000528900.1,ENST00000343115.4,ENST00000405097.1 |
| exon_skip_77311 | 11 | 110108216:110108377:110118427:110118558:110124670:110124834 | 110118427:110118558 | ENSG00000137710.10 | ENST00000528498.1,ENST00000544551.1,ENST00000530131.1,ENST00000530749.1,ENST00000343115.4,ENST00000405097.1 |
| exon_skip_77313 | 11 | 110128903:110128914:110134684:110134959:110143260:110143344 | 110134684:110134959 | ENSG00000137710.10 | ENST00000530301.1 |
| exon_skip_77314 | 11 | 110134769:110134959:110135503:110135599:110143260:110143344 | 110135503:110135599 | ENSG00000137710.10 | ENST00000528498.1,ENST00000528556.1,ENST00000530749.1,ENST00000533991.1,ENST00000343115.4,ENST00000405097.1,ENST00000532118.1 |
| exon_skip_77315 | 11 | 110143260:110143344:110143635:110143758:110150405:110150443 | 110143635:110143758 | ENSG00000137710.10 | ENST00000533678.1 |
| exon_skip_77316 | 11 | 110143260:110143344:110143635:110143776:110150405:110150443 | 110143635:110143776 | ENSG00000137710.10 | ENST00000528556.1 |
| exon_skip_77318 | 11 | 110143260:110143344:110150405:110150481:110167191:110167322 | 110150405:110150481 | ENSG00000137710.10 | ENST00000528498.1,ENST00000530131.1,ENST00000530301.1,ENST00000343115.4,ENST00000405097.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RDX |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77302 | 11 | 110045604:110045959:110052516:110052563:110070305:110070403 | 110052516:110052563 | ENSG00000137710.10 | ENST00000530749.1 |
| exon_skip_77304 | 11 | 110066285:110066890:110070305:110070403:110102597:110102729 | 110070305:110070403 | ENSG00000137710.10 | ENST00000405097.1,ENST00000528900.1,ENST00000530301.1 |
| exon_skip_77305 | 11 | 110103961:110104204:110106823:110106916:110108216:110108377 | 110106823:110106916 | ENSG00000137710.10 | ENST00000530749.1,ENST00000528498.1,ENST00000405097.1,ENST00000528900.1,ENST00000532461.1,ENST00000343115.4,ENST00000530131.1,ENST00000544551.1,ENST00000530085.1 |
| exon_skip_77307 | 11 | 110106823:110106916:110108216:110108377:110118427:110118558 | 110108216:110108377 | ENSG00000137710.10 | ENST00000530749.1,ENST00000528498.1,ENST00000405097.1,ENST00000528900.1,ENST00000343115.4,ENST00000530131.1,ENST00000544551.1 |
| exon_skip_77311 | 11 | 110108216:110108377:110118427:110118558:110124670:110124834 | 110118427:110118558 | ENSG00000137710.10 | ENST00000530749.1,ENST00000528498.1,ENST00000405097.1,ENST00000343115.4,ENST00000530131.1,ENST00000544551.1 |
| exon_skip_77313 | 11 | 110128903:110128914:110134684:110134959:110143260:110143344 | 110134684:110134959 | ENSG00000137710.10 | ENST00000530301.1 |
| exon_skip_77314 | 11 | 110134769:110134959:110135503:110135599:110143260:110143344 | 110135503:110135599 | ENSG00000137710.10 | ENST00000530749.1,ENST00000528498.1,ENST00000405097.1,ENST00000343115.4,ENST00000532118.1,ENST00000528556.1,ENST00000533991.1 |
| exon_skip_77315 | 11 | 110143260:110143344:110143635:110143758:110150405:110150443 | 110143635:110143758 | ENSG00000137710.10 | ENST00000533678.1 |
| exon_skip_77316 | 11 | 110143260:110143344:110143635:110143776:110150405:110150443 | 110143635:110143776 | ENSG00000137710.10 | ENST00000528556.1 |
| exon_skip_77318 | 11 | 110143260:110143344:110150405:110150481:110167191:110167322 | 110150405:110150481 | ENSG00000137710.10 | ENST00000528498.1,ENST00000405097.1,ENST00000530301.1,ENST00000343115.4,ENST00000530131.1 |
| 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 RDX |
| 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 |
| ENST00000343115 | 110150405 | 110150481 | 3UTR-3CDS |
| ENST00000343115 | 110108216 | 110108377 | Frame-shift |
| ENST00000343115 | 110118427 | 110118558 | Frame-shift |
| ENST00000343115 | 110106823 | 110106916 | In-frame |
| ENST00000343115 | 110135503 | 110135599 | 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 |
| ENST00000343115 | 110150405 | 110150481 | 3UTR-3CDS |
| ENST00000343115 | 110108216 | 110108377 | Frame-shift |
| ENST00000343115 | 110118427 | 110118558 | Frame-shift |
| ENST00000343115 | 110106823 | 110106916 | In-frame |
| ENST00000343115 | 110135503 | 110135599 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RDX |
| 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 |
| ENST00000343115 | 4508 | 583 | 110135503 | 110135599 | 417 | 512 | 32 | 64 |
| ENST00000343115 | 4508 | 583 | 110106823 | 110106916 | 1572 | 1664 | 417 | 448 |
| 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 |
| ENST00000343115 | 4508 | 583 | 110135503 | 110135599 | 417 | 512 | 32 | 64 |
| ENST00000343115 | 4508 | 583 | 110106823 | 110106916 | 1572 | 1664 | 417 | 448 |
| 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 |
| P35241 | 32 | 64 | 1 | 347 | Alternative sequence | ID=VSP_045315;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17226784;Dbxref=PMID:17226784 |
| P35241 | 32 | 64 | 1 | 156 | Alternative sequence | ID=VSP_047276;Note=In isoform 4. MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTVGLREVWFFGLQYVDSKGYSTWLKLNKKVTQQDVKKENPLQFKFRAKFFPEDVSEELIQEITQRLFFLQVKEAILNDEIYCPPETAVLLASYAVQAKYGDYNKEIHKPGYLANDRLLPQR->MLSWNLPFSPIQLANNFLTS;Ontology_term=ECO:0000303;evidence=ECO:0000 |
| P35241 | 32 | 64 | 33 | 64 | Alternative sequence | ID=VSP_045316;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17226784;Dbxref=PMID:17226784 |
| P35241 | 32 | 64 | 1 | 583 | Chain | ID=PRO_0000219421;Note=Radixin |
| P35241 | 32 | 64 | 5 | 295 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P35241 | 32 | 64 | 60 | 63 | Region | Note=Phosphatidylinositol binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35241 | 417 | 448 | 168 | 539 | Alternative sequence | ID=VSP_045317;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17226784;Dbxref=PMID:17226784 |
| P35241 | 417 | 448 | 1 | 583 | Chain | ID=PRO_0000219421;Note=Radixin |
| P35241 | 417 | 448 | 311 | 522 | Compositional bias | Note=Glu-rich |
| P35241 | 417 | 448 | 435 | 435 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P35241 | 32 | 64 | 1 | 347 | Alternative sequence | ID=VSP_045315;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17226784;Dbxref=PMID:17226784 |
| P35241 | 32 | 64 | 1 | 156 | Alternative sequence | ID=VSP_047276;Note=In isoform 4. MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTVGLREVWFFGLQYVDSKGYSTWLKLNKKVTQQDVKKENPLQFKFRAKFFPEDVSEELIQEITQRLFFLQVKEAILNDEIYCPPETAVLLASYAVQAKYGDYNKEIHKPGYLANDRLLPQR->MLSWNLPFSPIQLANNFLTS;Ontology_term=ECO:0000303;evidence=ECO:0000 |
| P35241 | 32 | 64 | 33 | 64 | Alternative sequence | ID=VSP_045316;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17226784;Dbxref=PMID:17226784 |
| P35241 | 32 | 64 | 1 | 583 | Chain | ID=PRO_0000219421;Note=Radixin |
| P35241 | 32 | 64 | 5 | 295 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P35241 | 32 | 64 | 60 | 63 | Region | Note=Phosphatidylinositol binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P35241 | 417 | 448 | 168 | 539 | Alternative sequence | ID=VSP_045317;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17226784;Dbxref=PMID:17226784 |
| P35241 | 417 | 448 | 1 | 583 | Chain | ID=PRO_0000219421;Note=Radixin |
| P35241 | 417 | 448 | 311 | 522 | Compositional bias | Note=Glu-rich |
| P35241 | 417 | 448 | 435 | 435 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for RDX |
| - 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_77305 | 110106824 | 110106916 | 110106855 | 110106855 | Frame_Shift_Del | T | - | p.K438fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_77307 | 110108217 | 110108377 | 110108253 | 110108253 | Frame_Shift_Del | T | - | p.K405fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_77311 | 110118428 | 110118558 | 110118487 | 110118487 | Frame_Shift_Del | T | - | p.K344fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_77313 | 110134685 | 110134959 | 110134778 | 110134778 | Frame_Shift_Del | A | - | p.L125fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_77313 | 110134685 | 110134959 | 110134791 | 110134791 | Frame_Shift_Del | T | - | p.T121fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_77313 | 110134685 | 110134959 | 110134912 | 110134912 | Frame_Shift_Del | A | - | p.F80fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_77313 | 110134685 | 110134959 | 110134936 | 110134936 | Frame_Shift_Del | T | - | p.K72fs |
| COAD | TCGA-CK-5916-01 | exon_skip_77314 | 110135504 | 110135599 | 110135561 | 110135561 | Frame_Shift_Del | A | - | p.G46fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_77314 | 110135504 | 110135599 | 110135561 | 110135561 | Frame_Shift_Del | A | - | p.F45fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_77314 | 110135504 | 110135599 | 110135560 | 110135561 | Frame_Shift_Ins | - | A | p.F45fs |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_77314 | 110135504 | 110135599 | 110135560 | 110135561 | Frame_Shift_Ins | - | A | p.F45fs |
| PAAD | TCGA-IB-A5SQ-01 | exon_skip_77307 | 110108217 | 110108377 | 110108327 | 110108327 | Nonsense_Mutation | G | A | p.R381* |
| PAAD | TCGA-IB-A5SQ-01 | exon_skip_77307 | 110108217 | 110108377 | 110108327 | 110108327 | Nonsense_Mutation | G | A | p.R381X |
| PAAD | TCGA-YY-A8LH-01 | exon_skip_77307 | 110108217 | 110108377 | 110108333 | 110108333 | Nonsense_Mutation | G | A | p.R379* |
| PAAD | TCGA-YY-A8LH-01 | exon_skip_77307 | 110108217 | 110108377 | 110108333 | 110108333 | Nonsense_Mutation | G | A | p.R379X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_77313 | 110134685 | 110134959 | 110134830 | 110134830 | Nonsense_Mutation | C | A | p.E108* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_77313 | 110134685 | 110134959 | 110134830 | 110134830 | Nonsense_Mutation | C | A | p.E108* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_77313 | 110134685 | 110134959 | 110134866 | 110134866 | Nonsense_Mutation | C | A | p.E96* |
| - 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 |
| WM88_SKIN | 110135504 | 110135599 | 110135532 | 110135545 | Frame_Shift_Del | TAACCTTTGCTGTC | - | p.DSKGY51fs |
| UMCHOR1_BONE | 110070306 | 110070403 | 110070386 | 110070386 | Missense_Mutation | T | C | p.Y589C |
| SKNEP1_BONE | 110108217 | 110108377 | 110108351 | 110108351 | Missense_Mutation | G | C | p.L373V |
| HEC251_ENDOMETRIUM | 110118428 | 110118558 | 110118464 | 110118464 | Missense_Mutation | T | G | p.K352Q |
| CW2_LARGE_INTESTINE | 110118428 | 110118558 | 110118513 | 110118513 | Missense_Mutation | C | A | p.K335N |
| HEC108_ENDOMETRIUM | 110134685 | 110134959 | 110134730 | 110134730 | Missense_Mutation | A | G | p.I141T |
| HT115_LARGE_INTESTINE | 110134685 | 110134959 | 110134806 | 110134806 | Missense_Mutation | A | G | p.Y116H |
| MEWO_SKIN | 110134685 | 110134959 | 110134896 | 110134896 | Missense_Mutation | G | A | p.P86S |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 110135504 | 110135599 | 110135524 | 110135524 | Missense_Mutation | A | G | p.W58R |
| HEC50B_ENDOMETRIUM | 110135504 | 110135599 | 110135573 | 110135573 | Missense_Mutation | C | G | p.E41D |
| JHUEM7_ENDOMETRIUM | 110106824 | 110106916 | 110106910 | 110106910 | Nonsense_Mutation | C | A | p.E420* |
| HEC251_ENDOMETRIUM | 110108217 | 110108377 | 110108288 | 110108288 | Nonsense_Mutation | G | A | p.R394* |
| MCC13_SKIN | 110108217 | 110108377 | 110108360 | 110108360 | Nonsense_Mutation | G | A | p.R370* |
| IALM_LUNG | 110134685 | 110134959 | 110134833 | 110134833 | Nonsense_Mutation | T | A | p.K107* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RDX |
| 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 RDX |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RDX |
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RelatedDrugs for RDX |
| 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 RDX |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RDX | C0008370 | Cholestasis | 1 | CTD_human |
| RDX | C1970239 | DEAFNESS, AUTOSOMAL RECESSIVE, 24 | 1 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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