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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 RGS1 |
 Gene summary |
| Gene information | Gene symbol | RGS1 | Gene ID | 5996 |
| Gene name | regulator of G protein signaling 1 | |
| Synonyms | 1R20|BL34|HEL-S-87|IER1|IR20 | |
| Cytomap | 1q31.2 | |
| Type of gene | protein-coding | |
| Description | regulator of G-protein signaling 1B-cell activation protein BL34early response protein 1R20epididymis secretory protein Li 87immediate-early response 1, B-cell specificregulator of G-protein signalling 1 | |
| Modification date | 20180520 | |
| UniProtAcc | Q08116 | |
| Context | PubMed: RGS1 [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 |
| RGS1 | GO:0007165 | signal transduction | 10480894 |
| RGS1 | GO:0007186 | G-protein coupled receptor signaling pathway | 10480894 |
| RGS1 | GO:0043547 | positive regulation of GTPase activity | 10480894|18434541 |
| RGS1 | GO:0061737 | leukotriene signaling pathway | 10480894 |
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Exon skipping events across known transcript of Ensembl for RGS1 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 RGS1 |
| 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 RGS1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_14940 | 1 | 192544904:192545059:192545414:192545495:192545903:192545954 | 192545414:192545495 | ENSG00000090104.7 | ENST00000498352.1,ENST00000469578.2 |
| exon_skip_14942 | 1 | 192545903:192545965:192547351:192547515:192548266:192549071 | 192547351:192547515 | ENSG00000090104.7 | ENST00000367459.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RGS1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_14940 | 1 | 192544904:192545059:192545414:192545495:192545903:192545954 | 192545414:192545495 | ENSG00000090104.7 | ENST00000469578.2,ENST00000498352.1 |
| exon_skip_14942 | 1 | 192545903:192545965:192547351:192547515:192548266:192549071 | 192547351:192547515 | ENSG00000090104.7 | ENST00000367459.3 |
| 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 RGS1 |
| 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 |
| ENST00000367459 | 192547351 | 192547515 | 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 |
| ENST00000367459 | 192547351 | 192547515 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RGS1 |
| 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 RGS1 |
| - 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 |
| HNSC | TCGA-CN-4727-01 | exon_skip_14942 | 192547352 | 192547515 | 192547358 | 192547358 | Frame_Shift_Del | A | - | p.Q96fs |
| UCEC | TCGA-AP-A051-01 | exon_skip_14942 | 192547352 | 192547515 | 192547510 | 192547510 | Frame_Shift_Del | A | - | p.K147fs |
| LUAD | TCGA-75-6211-01 | exon_skip_14940 | 192545415 | 192545495 | 192545461 | 192545461 | Nonsense_Mutation | G | T | p.E62* |
| LUSC | TCGA-85-6561-01 | exon_skip_14942 | 192547352 | 192547515 | 192547369 | 192547369 | Nonsense_Mutation | G | T | p.G100* |
| - 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 |
| SNU398_LIVER | 192545415 | 192545495 | 192545486 | 192545486 | Missense_Mutation | C | A | p.S70Y |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 192547352 | 192547515 | 192547414 | 192547414 | Missense_Mutation | T | A | p.W115R |
| GP2D_LARGE_INTESTINE | 192547352 | 192547515 | 192547433 | 192547433 | Missense_Mutation | A | G | p.Y121C |
| GP5D_LARGE_INTESTINE | 192547352 | 192547515 | 192547433 | 192547433 | Missense_Mutation | A | G | p.Y121C |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 192547352 | 192547515 | 192547463 | 192547463 | Missense_Mutation | G | T | p.C131F |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 192547352 | 192547515 | 192547487 | 192547487 | Missense_Mutation | C | T | p.A139V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RGS1 |
| 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 RGS1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RGS1 |
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RelatedDrugs for RGS1 |
| 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 RGS1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RGS1 | C0011581 | Depressive disorder | 1 | PSYGENET |
| RGS1 | C0029463 | Osteosarcoma | 1 | CTD_human |
| RGS1 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| RGS1 | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
| RGS1 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
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