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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 RARG |
 Gene summary |
| Gene information | Gene symbol | RARG | Gene ID | 5916 |
| Gene name | retinoic acid receptor gamma | |
| Synonyms | NR1B3|RARC | |
| Cytomap | 12q13.13 | |
| Type of gene | protein-coding | |
| Description | retinoic acid receptor gammaRAR-gammanuclear receptor subfamily 1 group B member 3retinoic acid nuclear receptor gamma variant 1retinoic acid nuclear receptor gamma variant 2 | |
| Modification date | 20180523 | |
| UniProtAcc | P13631 | |
| Context | PubMed: RARG [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 |
| RARG | GO:0032526 | response to retinoic acid | 17943189 |
| RARG | GO:0048384 | retinoic acid receptor signaling pathway | 17943189 |
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Exon skipping events across known transcript of Ensembl for RARG 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 RARG |
| 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 RARG |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_92680 | 12 | 53606868:53607027:53607279:53607484:53607842:53608019 | 53607279:53607484 | ENSG00000172819.12 | ENST00000425354.2,ENST00000338561.5,ENST00000327550.3,ENST00000543726.1,ENST00000394426.1,ENST00000543762.1 |
| exon_skip_92682 | 12 | 53607877:53608019:53608229:53608390:53609076:53609136 | 53608229:53608390 | ENSG00000172819.12 | ENST00000425354.2,ENST00000548317.1,ENST00000338561.5,ENST00000327550.3,ENST00000543726.1,ENST00000550265.1,ENST00000394426.1,ENST00000543762.1 |
| exon_skip_92688 | 12 | 53609076:53609218:53609429:53609578:53613733:53613868 | 53609429:53609578 | ENSG00000172819.12 | ENST00000338561.5 |
| exon_skip_92689 | 12 | 53609076:53609218:53609429:53609578:53621145:53621334 | 53609429:53609578 | ENSG00000172819.12 | ENST00000425354.2,ENST00000394426.1 |
| exon_skip_92690 | 12 | 53609076:53609218:53609429:53609578:53624952:53625016 | 53609429:53609578 | ENSG00000172819.12 | ENST00000327550.3 |
| exon_skip_92695 | 12 | 53609076:53609218:53624952:53625019:53625757:53625958 | 53624952:53625019 | ENSG00000172819.12 | ENST00000543762.1 |
| exon_skip_92700 | 12 | 53609429:53609578:53621145:53621471:53624952:53625016 | 53621145:53621471 | ENSG00000172819.12 | ENST00000425354.2,ENST00000394426.1 |
| exon_skip_92709 | 12 | 53609429:53609578:53624952:53625019:53625757:53625958 | 53624952:53625019 | ENSG00000172819.12 | ENST00000327550.3 |
| exon_skip_92711 | 12 | 53621418:53621471:53623625:53623837:53624952:53625016 | 53623625:53623837 | ENSG00000172819.12 | ENST00000549859.1 |
| exon_skip_92713 | 12 | 53621433:53621471:53623694:53623837:53624952:53625016 | 53623694:53623837 | ENSG00000172819.12 | ENST00000551501.1,ENST00000550350.1 |
| exon_skip_92714 | 12 | 53621433:53621471:53623694:53623858:53624952:53625016 | 53623694:53623858 | ENSG00000172819.12 | ENST00000546377.1 |
| exon_skip_92715 | 12 | 53621418:53621471:53624952:53625016:53625757:53625958 | 53624952:53625016 | ENSG00000172819.12 | ENST00000394426.1 |
| exon_skip_92716 | 12 | 53621418:53621471:53624952:53625019:53625757:53625958 | 53624952:53625019 | ENSG00000172819.12 | ENST00000551158.1,ENST00000550721.1,ENST00000550362.1 |
| exon_skip_92720 | 12 | 53624952:53625019:53625174:53625334:53625757:53625958 | 53625174:53625334 | ENSG00000172819.12 | ENST00000552901.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RARG |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_92680 | 12 | 53606868:53607027:53607279:53607484:53607842:53608019 | 53607279:53607484 | ENSG00000172819.12 | ENST00000425354.2,ENST00000394426.1,ENST00000327550.3,ENST00000338561.5,ENST00000543726.1,ENST00000543762.1 |
| exon_skip_92682 | 12 | 53607877:53608019:53608229:53608390:53609076:53609136 | 53608229:53608390 | ENSG00000172819.12 | ENST00000425354.2,ENST00000394426.1,ENST00000327550.3,ENST00000338561.5,ENST00000543726.1,ENST00000543762.1,ENST00000550265.1,ENST00000548317.1 |
| exon_skip_92688 | 12 | 53609076:53609218:53609429:53609578:53613733:53613868 | 53609429:53609578 | ENSG00000172819.12 | ENST00000338561.5 |
| exon_skip_92689 | 12 | 53609076:53609218:53609429:53609578:53621145:53621334 | 53609429:53609578 | ENSG00000172819.12 | ENST00000425354.2,ENST00000394426.1 |
| exon_skip_92690 | 12 | 53609076:53609218:53609429:53609578:53624952:53625016 | 53609429:53609578 | ENSG00000172819.12 | ENST00000327550.3 |
| exon_skip_92695 | 12 | 53609076:53609218:53624952:53625019:53625757:53625958 | 53624952:53625019 | ENSG00000172819.12 | ENST00000543762.1 |
| exon_skip_92700 | 12 | 53609429:53609578:53621145:53621471:53624952:53625016 | 53621145:53621471 | ENSG00000172819.12 | ENST00000425354.2,ENST00000394426.1 |
| exon_skip_92709 | 12 | 53609429:53609578:53624952:53625019:53625757:53625958 | 53624952:53625019 | ENSG00000172819.12 | ENST00000327550.3 |
| exon_skip_92711 | 12 | 53621418:53621471:53623625:53623837:53624952:53625016 | 53623625:53623837 | ENSG00000172819.12 | ENST00000549859.1 |
| exon_skip_92713 | 12 | 53621433:53621471:53623694:53623837:53624952:53625016 | 53623694:53623837 | ENSG00000172819.12 | ENST00000550350.1,ENST00000551501.1 |
| exon_skip_92714 | 12 | 53621433:53621471:53623694:53623858:53624952:53625016 | 53623694:53623858 | ENSG00000172819.12 | ENST00000546377.1 |
| exon_skip_92715 | 12 | 53621418:53621471:53624952:53625016:53625757:53625958 | 53624952:53625016 | ENSG00000172819.12 | ENST00000394426.1 |
| exon_skip_92716 | 12 | 53621418:53621471:53624952:53625019:53625757:53625958 | 53624952:53625019 | ENSG00000172819.12 | ENST00000551158.1,ENST00000550362.1,ENST00000550721.1 |
| exon_skip_92720 | 12 | 53624952:53625019:53625174:53625334:53625757:53625958 | 53625174:53625334 | ENSG00000172819.12 | ENST00000552901.1 |
| 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 RARG |
| 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 |
| ENST00000425354 | 53621145 | 53621471 | 3UTR-3CDS |
| ENST00000425354 | 53607279 | 53607484 | Frame-shift |
| ENST00000425354 | 53608229 | 53608390 | Frame-shift |
| ENST00000425354 | 53609429 | 53609578 | 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 |
| ENST00000425354 | 53621145 | 53621471 | 3UTR-3CDS |
| ENST00000425354 | 53607279 | 53607484 | Frame-shift |
| ENST00000425354 | 53608229 | 53608390 | Frame-shift |
| ENST00000425354 | 53609429 | 53609578 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RARG |
| 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 RARG |
| - 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. |
RARG_CESC_exon_skip_92682_psi_boxplot.png |
RARG_HNSC_exon_skip_92682_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 |
| COAD | TCGA-AZ-6598-01 | exon_skip_92680 | 53607280 | 53607484 | 53607456 | 53607456 | Frame_Shift_Del | G | - | p.P281fs |
| HNSC | TCGA-CV-6441-01 | exon_skip_92682 | 53608230 | 53608390 | 53608326 | 53608338 | Frame_Shift_Del | ATAGCTGTCAGGT | - | p.S176fs |
| HNSC | TCGA-CV-6441-01 | exon_skip_92682 | 53608230 | 53608390 | 53608326 | 53608338 | Frame_Shift_Del | ATAGCTGTCAGGT | - | p.SPDSY176fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_92700 | 53621146 | 53621471 | 53621165 | 53621165 | Frame_Shift_Del | G | - | p.P55fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_92700 | 53621146 | 53621471 | 53621285 | 53621285 | Frame_Shift_Del | C | - | p.P16fs |
| BLCA | TCGA-CU-A5W6-01 | exon_skip_92682 | 53608230 | 53608390 | 53608320 | 53608321 | Frame_Shift_Ins | - | A | p.L182fs |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_92700 | 53621146 | 53621471 | 53621292 | 53621293 | Frame_Shift_Ins | - | C | p.A13fs |
| BLCA | TCGA-DK-A6B6-01 | exon_skip_92682 | 53608230 | 53608390 | 53608274 | 53608274 | Nonsense_Mutation | G | A | p.Q198* |
| CESC | TCGA-C5-A2LZ-01 | exon_skip_92682 | 53608230 | 53608390 | 53608313 | 53608313 | Nonsense_Mutation | G | A | p.Q185* |
| UCEC | TCGA-B5-A11H-01 | exon_skip_92682 | 53608230 | 53608390 | 53608385 | 53608385 | Nonsense_Mutation | G | A | p.R161* |
| BRCA | TCGA-A7-A13D-01 | exon_skip_92690 exon_skip_92689 exon_skip_92688 | 53609430 | 53609578 | 53609502 | 53609502 | Nonsense_Mutation | G | C | p.Y87* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CV-6441-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_92682 | |
| Skipped exon start: 53608230 | |
| Skipped exon end: 53608390 | |
| Mutation start: 53608326 | |
| Mutation end: 53608338 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: ATAGCTGTCAGGT | |
| Mutation seq: - | |
| AAchange: p.SPDSY176fs | |
| Sample: TCGA-CV-6441-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_92682 | |
| Skipped exon start: 53608230 | |
| Skipped exon end: 53608390 | |
| Mutation start: 53608326 | |
| Mutation end: 53608338 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: ATAGCTGTCAGGT | |
| Mutation seq: - | |
| AAchange: p.S176fs | |
exon_skip_92682_HNSC_TCGA-CV-6441-01.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 |
| BC3C_URINARY_TRACT | 53607280 | 53607484 | 53607435 | 53607435 | Missense_Mutation | A | G | p.F288S |
| TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53607280 | 53607484 | 53607440 | 53607440 | Missense_Mutation | C | A | p.M286I |
| MM415_SKIN | 53608230 | 53608390 | 53608262 | 53608262 | Missense_Mutation | G | C | p.P202A |
| HEC108_ENDOMETRIUM | 53609430 | 53609578 | 53609489 | 53609489 | Missense_Mutation | C | T | p.V92M |
| HEC265_ENDOMETRIUM | 53609430 | 53609578 | 53609503 | 53609503 | Missense_Mutation | T | C | p.Y87C |
| SISO_CERVIX | 53621146 | 53621471 | 53621181 | 53621181 | Missense_Mutation | C | T | p.G50D |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53621146 | 53621471 | 53621181 | 53621181 | Missense_Mutation | C | T | p.G50D |
| SNU1040_LARGE_INTESTINE | 53607280 | 53607484 | 53607349 | 53607349 | Nonsense_Mutation | G | A | p.Q317* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RARG |
| 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 RARG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RARG |
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RelatedDrugs for RARG |
| 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 |
| P13631 | DB00210 | Adapalene | Retinoic acid receptor gamma | small molecule | approved | |
| P13631 | DB00459 | Acitretin | Retinoic acid receptor gamma | small molecule | approved | |
| P13631 | DB00523 | Alitretinoin | Retinoic acid receptor gamma | small molecule | approved|investigational | |
| P13631 | DB00799 | Tazarotene | Retinoic acid receptor gamma | small molecule | approved|investigational | |
| P13631 | DB00755 | Tretinoin | Retinoic acid receptor gamma | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for RARG |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RARG | C0008925 | Cleft Palate | 1 | CTD_human |
| RARG | C0018799 | Heart Diseases | 1 | CTD_human |
| RARG | C0151491 | Congenital musculoskeletal anomalies | 1 | CTD_human |
| RARG | C0876994 | Cardiotoxicity | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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