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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 RPGR |
 Gene summary |
| Gene information | Gene symbol | RPGR | Gene ID | 6103 |
| Gene name | retinitis pigmentosa GTPase regulator | |
| Synonyms | COD1|CORDX1|CRD|PCDX|RP15|RP3|XLRP3|orf15 | |
| Cytomap | Xp11.4 | |
| Type of gene | protein-coding | |
| Description | X-linked retinitis pigmentosa GTPase regulatorretinitis pigmentosa 15retinitis pigmentosa 3 GTPase regulator | |
| Modification date | 20180519 | |
| UniProtAcc | Q92834 | |
| Context | PubMed: RPGR [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 RPGR 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 RPGR |
| 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 RPGR |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_514455 | X | 38132687:38132730:38134341:38134399:38135839:38136025 | 38134341:38134399 | ENSG00000156313.8 | ENST00000474584.1,ENST00000494707.1,ENST00000318842.7,ENST00000339363.3,ENST00000309513.3,ENST00000338898.3,ENST00000482855.1 |
| exon_skip_514456 | X | 38135839:38136025:38138419:38138458:38146346:38146498 | 38138419:38138458 | ENSG00000156313.8 | ENST00000482855.1 |
| exon_skip_514457 | X | 38135839:38136025:38146346:38146498:38147113:38147294 | 38146346:38146498 | ENSG00000156313.8 | ENST00000318842.7,ENST00000309513.3,ENST00000338898.3 |
| exon_skip_514460 | X | 38135839:38136025:38146346:38147294:38150211:38150277 | 38146346:38147294 | ENSG00000156313.8 | ENST00000339363.3 |
| exon_skip_514463 | X | 38146346:38146498:38147113:38147294:38150211:38150277 | 38147113:38147294 | ENSG00000156313.8 | ENST00000342811.3,ENST00000318842.7,ENST00000309513.3,ENST00000338898.3,ENST00000482855.1,ENST00000378505.2 |
| exon_skip_514466 | X | 38150211:38150277:38150645:38150737:38156536:38156702 | 38150645:38150737 | ENSG00000156313.8 | ENST00000342811.3,ENST00000318842.7,ENST00000339363.3,ENST00000309513.3,ENST00000482855.1,ENST00000378505.2 |
| exon_skip_514469 | X | 38156560:38156705:38158208:38158394:38160499:38160624 | 38158208:38158394 | ENSG00000156313.8 | ENST00000474584.1,ENST00000342811.3,ENST00000318842.7,ENST00000339363.3,ENST00000494841.1,ENST00000338898.3,ENST00000482855.1,ENST00000378505.2 |
| exon_skip_514471 | X | 38160499:38160624:38163887:38164043:38169867:38170023 | 38163887:38164043 | ENSG00000156313.8 | ENST00000474584.1,ENST00000342811.3,ENST00000318842.7,ENST00000339363.3,ENST00000309513.3,ENST00000338898.3,ENST00000482855.1,ENST00000378505.2 |
| exon_skip_514474 | X | 38182105:38182198:38182651:38182777:38186592:38186675 | 38182651:38182777 | ENSG00000156313.8 | ENST00000474584.1,ENST00000342811.3,ENST00000339363.3,ENST00000309513.3,ENST00000338898.3,ENST00000482855.1,ENST00000378505.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RPGR |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_514455 | X | 38132687:38132730:38134341:38134399:38135839:38136025 | 38134341:38134399 | ENSG00000156313.8 | ENST00000318842.7,ENST00000339363.3,ENST00000309513.3,ENST00000338898.3,ENST00000482855.1,ENST00000474584.1,ENST00000494707.1 |
| exon_skip_514456 | X | 38135839:38136025:38138419:38138458:38146346:38146498 | 38138419:38138458 | ENSG00000156313.8 | ENST00000482855.1 |
| exon_skip_514457 | X | 38135839:38136025:38146346:38146498:38147113:38147294 | 38146346:38146498 | ENSG00000156313.8 | ENST00000318842.7,ENST00000309513.3,ENST00000338898.3 |
| exon_skip_514460 | X | 38135839:38136025:38146346:38147294:38150211:38150277 | 38146346:38147294 | ENSG00000156313.8 | ENST00000339363.3 |
| exon_skip_514463 | X | 38146346:38146498:38147113:38147294:38150211:38150277 | 38147113:38147294 | ENSG00000156313.8 | ENST00000318842.7,ENST00000309513.3,ENST00000338898.3,ENST00000482855.1,ENST00000342811.3,ENST00000378505.2 |
| exon_skip_514466 | X | 38150211:38150277:38150645:38150737:38156536:38156702 | 38150645:38150737 | ENSG00000156313.8 | ENST00000318842.7,ENST00000339363.3,ENST00000309513.3,ENST00000482855.1,ENST00000342811.3,ENST00000378505.2 |
| exon_skip_514469 | X | 38156560:38156705:38158208:38158394:38160499:38160624 | 38158208:38158394 | ENSG00000156313.8 | ENST00000318842.7,ENST00000339363.3,ENST00000338898.3,ENST00000482855.1,ENST00000474584.1,ENST00000342811.3,ENST00000378505.2,ENST00000494841.1 |
| exon_skip_514471 | X | 38160499:38160624:38163887:38164043:38169867:38170023 | 38163887:38164043 | ENSG00000156313.8 | ENST00000318842.7,ENST00000339363.3,ENST00000309513.3,ENST00000338898.3,ENST00000482855.1,ENST00000474584.1,ENST00000342811.3,ENST00000378505.2 |
| exon_skip_514474 | X | 38182105:38182198:38182651:38182777:38186592:38186675 | 38182651:38182777 | ENSG00000156313.8 | ENST00000339363.3,ENST00000309513.3,ENST00000338898.3,ENST00000482855.1,ENST00000474584.1,ENST00000342811.3,ENST00000378505.2 |
| 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 RPGR |
| 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 |
| ENST00000339363 | 38134341 | 38134399 | Frame-shift |
| ENST00000339363 | 38150645 | 38150737 | Frame-shift |
| ENST00000339363 | 38146346 | 38147294 | In-frame |
| ENST00000339363 | 38158208 | 38158394 | In-frame |
| ENST00000339363 | 38163887 | 38164043 | In-frame |
| ENST00000339363 | 38182651 | 38182777 | 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 |
| ENST00000339363 | 38134341 | 38134399 | Frame-shift |
| ENST00000339363 | 38150645 | 38150737 | Frame-shift |
| ENST00000339363 | 38146346 | 38147294 | In-frame |
| ENST00000339363 | 38158208 | 38158394 | In-frame |
| ENST00000339363 | 38163887 | 38164043 | In-frame |
| ENST00000339363 | 38182651 | 38182777 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RPGR |
| 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 |
| ENST00000339363 | 3703 | 1020 | 38182651 | 38182777 | 197 | 322 | 9 | 51 |
| ENST00000339363 | 3703 | 1020 | 38163887 | 38164043 | 947 | 1102 | 259 | 311 |
| ENST00000339363 | 3703 | 1020 | 38158208 | 38158394 | 1228 | 1413 | 353 | 415 |
| ENST00000339363 | 3703 | 1020 | 38146346 | 38147294 | 1741 | 2688 | 524 | 840 |
| 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 |
| ENST00000339363 | 3703 | 1020 | 38182651 | 38182777 | 197 | 322 | 9 | 51 |
| ENST00000339363 | 3703 | 1020 | 38163887 | 38164043 | 947 | 1102 | 259 | 311 |
| ENST00000339363 | 3703 | 1020 | 38158208 | 38158394 | 1228 | 1413 | 353 | 415 |
| ENST00000339363 | 3703 | 1020 | 38146346 | 38147294 | 1741 | 2688 | 524 | 840 |
| 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 RPGR |
| - 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. |
RPGR_CESC_exon_skip_514460_psi_boxplot.png |
RPGR_LIHC_exon_skip_514460_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_514457 | 38146347 | 38146498 | 38146456 | 38146456 | Frame_Shift_Del | T | - | p.N599fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_514460 | 38146347 | 38147294 | 38146456 | 38146456 | Frame_Shift_Del | T | - | p.N599fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_514471 | 38163888 | 38164043 | 38163979 | 38163979 | Frame_Shift_Del | A | - | p.F281fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_514471 | 38163888 | 38164043 | 38163979 | 38163979 | Frame_Shift_Del | A | - | p.F281fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_514474 | 38182652 | 38182777 | 38182705 | 38182705 | Frame_Shift_Del | T | - | p.N34fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_514474 | 38182652 | 38182777 | 38182705 | 38182705 | Frame_Shift_Del | T | - | p.N34fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_514474 | 38182652 | 38182777 | 38182732 | 38182732 | Frame_Shift_Del | T | - | p.N26fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_514474 | 38182652 | 38182777 | 38182748 | 38182748 | Frame_Shift_Del | T | - | p.S20fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_514474 | 38182652 | 38182777 | 38182748 | 38182748 | Frame_Shift_Del | T | - | p.S20fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_514460 | 38146347 | 38147294 | 38147061 | 38147062 | Frame_Shift_Ins | - | A | p.S602fs |
| CESC | TCGA-IR-A3LA-01 | exon_skip_514457 | 38146347 | 38146498 | 38146372 | 38146372 | Nonsense_Mutation | G | C | p.S627* |
| CESC | TCGA-IR-A3LA-01 | exon_skip_514460 | 38146347 | 38147294 | 38146372 | 38146372 | Nonsense_Mutation | G | C | p.S627* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_514457 | 38146347 | 38146498 | 38146424 | 38146424 | Nonsense_Mutation | C | A | p.E610* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_514460 | 38146347 | 38147294 | 38146424 | 38146424 | Nonsense_Mutation | C | A | p.E610* |
| UCEC | TCGA-BG-A0VX-01 | exon_skip_514460 | 38146347 | 38147294 | 38147174 | 38147174 | Nonsense_Mutation | G | A | p.Q565* |
| UCEC | TCGA-BG-A0VX-01 | exon_skip_514463 | 38147114 | 38147294 | 38147174 | 38147174 | Nonsense_Mutation | G | A | p.Q565* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_514460 | 38146347 | 38147294 | 38147249 | 38147249 | Nonsense_Mutation | C | A | p.E540* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_514463 | 38147114 | 38147294 | 38147249 | 38147249 | Nonsense_Mutation | C | A | p.E540* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_514469 | 38158209 | 38158394 | 38158319 | 38158319 | Nonsense_Mutation | C | A | p.E379* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IR-A3LA-01 |
| Cancer type: CESC | |
| ESID: exon_skip_514457 | |
| Skipped exon start: 38146347 | |
| Skipped exon end: 38146498 | |
| Mutation start: 38146372 | |
| Mutation end: 38146372 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: C | |
| AAchange: p.S627* | |
| Sample: TCGA-IR-A3LA-01 |
| Cancer type: CESC | |
| ESID: exon_skip_514460 | |
| Skipped exon start: 38146347 | |
| Skipped exon end: 38147294 | |
| Mutation start: 38146372 | |
| Mutation end: 38146372 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: C | |
| AAchange: p.S627* | |
exon_skip_300158_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_353670_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_514460_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_54120_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_7339_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_77466_CESC_TCGA-IR-A3LA-01.png | |
 | Sample: TCGA-BG-A0VX-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_514460 | |
| Skipped exon start: 38146347 | |
| Skipped exon end: 38147294 | |
| Mutation start: 38147174 | |
| Mutation end: 38147174 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q565* | |
| Sample: TCGA-BG-A0VX-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_514463 | |
| Skipped exon start: 38147114 | |
| Skipped exon end: 38147294 | |
| Mutation start: 38147174 | |
| Mutation end: 38147174 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q565* | |
exon_skip_514460_UCEC_TCGA-BG-A0VX-01.png | |
 | Sample: TCGA-BC-A112-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_514460 | |
| Skipped exon start: 38146347 | |
| Skipped exon end: 38147294 | |
| Mutation start: 38147061 | |
| Mutation end: 38147062 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.S602fs | |
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 | |
| - 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 |
| DOV13_OVARY | 38182652 | 38182777 | 38182705 | 38182705 | Frame_Shift_Del | T | - | p.N34fs |
| EN_ENDOMETRIUM | 38146347 | 38147294 | 38146866 | 38146867 | Frame_Shift_Ins | - | T | p.K667fs |
| FU97_STOMACH | 38146347 | 38147294 | 38146666 | 38146667 | In_Frame_Ins | - | GCT | p.733_734insQ |
| HCC56_LARGE_INTESTINE | 38134342 | 38134399 | 38134351 | 38134351 | Missense_Mutation | T | C | p.N919D |
| TE11_OESOPHAGUS | 38146347 | 38146498 | 38146382 | 38146382 | Missense_Mutation | C | G | p.E829Q |
| TE11_OESOPHAGUS | 38146347 | 38147294 | 38146382 | 38146382 | Missense_Mutation | C | G | p.E829Q |
| SW948_LARGE_INTESTINE | 38146347 | 38146498 | 38146423 | 38146423 | Missense_Mutation | T | A | p.E815V |
| SW948_LARGE_INTESTINE | 38146347 | 38147294 | 38146423 | 38146423 | Missense_Mutation | T | A | p.E815V |
| IPC298_SKIN | 38146347 | 38146498 | 38146493 | 38146493 | Missense_Mutation | G | A | p.P792S |
| IPC298_SKIN | 38146347 | 38147294 | 38146493 | 38146493 | Missense_Mutation | G | A | p.P792S |
| BT12_SOFT_TISSUE | 38146347 | 38147294 | 38146766 | 38146766 | Missense_Mutation | C | T | p.V701M |
| ESS1_ENDOMETRIUM | 38146347 | 38147294 | 38146858 | 38146858 | Missense_Mutation | G | T | p.P670H |
| LOVO_LARGE_INTESTINE | 38146347 | 38147294 | 38146884 | 38146884 | Missense_Mutation | C | A | p.R661S |
| HCC2157_BREAST | 38146347 | 38147294 | 38147053 | 38147053 | Missense_Mutation | T | C | p.E605G |
| NCIH2595_PLEURA | 38146347 | 38147294 | 38147222 | 38147222 | Missense_Mutation | C | T | p.E549K |
| NCIH2595_PLEURA | 38147114 | 38147294 | 38147222 | 38147222 | Missense_Mutation | C | T | p.E549K |
| NCIH2110_LUNG | 38150646 | 38150737 | 38150669 | 38150669 | Missense_Mutation | C | T | p.E495K |
| SNU1040_LARGE_INTESTINE | 38158209 | 38158394 | 38158228 | 38158229 | Missense_Mutation | CG | TA | p.R409Y |
| SNU1040_LARGE_INTESTINE | 38158209 | 38158394 | 38158229 | 38158229 | Missense_Mutation | G | A | p.R409C |
| SUM159PT_BREAST | 38158209 | 38158394 | 38158276 | 38158276 | Missense_Mutation | T | C | p.Y393C |
| HS821T_FIBROBLAST | 38158209 | 38158394 | 38158331 | 38158331 | Missense_Mutation | T | C | p.I375V |
| NCIH1435_LUNG | 38158209 | 38158394 | 38158343 | 38158343 | Missense_Mutation | C | A | p.V371L |
| KYSE510_OESOPHAGUS | 38158209 | 38158394 | 38158367 | 38158367 | Missense_Mutation | C | T | p.V363I |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38158209 | 38158394 | 38158390 | 38158390 | Missense_Mutation | G | C | p.A355G |
| NCIH513_PLEURA | 38163888 | 38164043 | 38163984 | 38163984 | Missense_Mutation | G | C | p.L280V |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38182652 | 38182777 | 38182745 | 38182745 | Nonsense_Mutation | T | A | p.K21* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPGR |
| 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 RPGR |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPGR |
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RelatedDrugs for RPGR |
| 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 RPGR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RPGR | C1845667 | RETINITIS PIGMENTOSA 3 | 15 | CTD_human;UNIPROT |
| RPGR | C0035334 | Retinitis Pigmentosa | 3 | CTD_human;HPO;ORPHANET |
| RPGR | C2749137 | Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness | 2 | CTD_human;ORPHANET;UNIPROT |
| RPGR | C0035243 | Respiratory Tract Infections | 1 | CTD_human |
| RPGR | C0035304 | Retinal Degeneration | 1 | CTD_human |
| RPGR | C0242383 | Age related macular degeneration | 1 | CTD_human |
| RPGR | C0854723 | Retinal Dystrophies | 1 | CTD_human |
| RPGR | C1384666 | hearing impairment | 1 | CTD_human |
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