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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 RGS2 |
 Gene summary |
| Gene information | Gene symbol | RGS2 | Gene ID | 5997 |
| Gene name | regulator of G protein signaling 2 | |
| Synonyms | G0S8 | |
| Cytomap | 1q31.2 | |
| Type of gene | protein-coding | |
| Description | regulator of G-protein signaling 2G0 to G1 switch regulatory 8, 24kDG0/G1 switch regulatory protein 8cell growth-inhibiting gene 31 proteincell growth-inhibiting protein 31regulator of G-protein signaling 2, 24kDa | |
| Modification date | 20180522 | |
| UniProtAcc | P41220 | |
| Context | PubMed: RGS2 [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 RGS2 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 RGS2 |
| 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 RGS2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_14947 | 1 | 192778272:192778311:192778587:192778665:192779295:192779397 | 192778587:192778665 | ENSG00000116741.6 | ENST00000487236.1 |
| exon_skip_14948 | 1 | 192778272:192778311:192779295:192779561:192780110:192780162 | 192779295:192779561 | ENSG00000116741.6 | ENST00000464302.1 |
| exon_skip_14949 | 1 | 192779499:192779561:192780110:192780277:192780531:192781403 | 192780110:192780277 | ENSG00000116741.6 | ENST00000235382.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RGS2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_14947 | 1 | 192778272:192778311:192778587:192778665:192779295:192779397 | 192778587:192778665 | ENSG00000116741.6 | ENST00000487236.1 |
| exon_skip_14948 | 1 | 192778272:192778311:192779295:192779561:192780110:192780162 | 192779295:192779561 | ENSG00000116741.6 | ENST00000464302.1 |
| exon_skip_14949 | 1 | 192779499:192779561:192780110:192780277:192780531:192781403 | 192780110:192780277 | ENSG00000116741.6 | ENST00000235382.5 |
| 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 RGS2 |
| 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 |
| ENST00000235382 | 192780110 | 192780277 | 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 |
| ENST00000235382 | 192780110 | 192780277 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RGS2 |
| 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 RGS2 |
| - 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. |
RGS2_COAD_exon_skip_14948_psi_boxplot.png |
RGS2_PRAD_exon_skip_14948_psi_boxplot.png |
RGS2_STAD_exon_skip_14948_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-A6-5665-01 | exon_skip_14948 | 192779296 | 192779561 | 192779369 | 192779369 | Frame_Shift_Del | A | - | p.G61fs |
| LIHC | TCGA-FV-A2QR-01 | exon_skip_14948 | 192779296 | 192779561 | 192779369 | 192779369 | Frame_Shift_Del | A | - | p.K63fs |
| PRAD | TCGA-J9-A52C-01 | exon_skip_14948 | 192779296 | 192779561 | 192779369 | 192779369 | Frame_Shift_Del | A | - | p.K63fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_14949 | 192780111 | 192780277 | 192780133 | 192780133 | Frame_Shift_Del | T | - | p.A99fs |
| STAD | TCGA-BR-4362-01 | exon_skip_14949 | 192780111 | 192780277 | 192780194 | 192780194 | Frame_Shift_Del | A | - | p.F119fs |
| COAD | TCGA-G4-6320-01 | exon_skip_14948 | 192779296 | 192779561 | 192779368 | 192779369 | Frame_Shift_Ins | - | A | p.G61fs |
| CESC | TCGA-C5-A1MJ-01 | exon_skip_14948 | 192779296 | 192779561 | 192779519 | 192779519 | Nonsense_Mutation | C | T | p.Q78* |
| READ | TCGA-AG-A002-01 | exon_skip_14949 | 192780111 | 192780277 | 192780207 | 192780207 | Nonsense_Mutation | C | A | p.S124X |
| STAD | TCGA-D7-6520-01 | exon_skip_14948 | 192779296 | 192779561 | 192779562 | 192779563 | Splice_Site | - | T | . |
| STAD | TCGA-D7-6520-01 | exon_skip_14948 | 192779296 | 192779561 | 192779562 | 192779563 | Splice_Site | - | T | p.Y92_splice |
| STAD | TCGA-D7-6520-01 | exon_skip_14948 | 192779296 | 192779561 | 192779563 | 192779564 | Splice_Site | - | T | p.Y92_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-D7-6520-01 |
| Cancer type: STAD | |
| ESID: exon_skip_14948 | |
| Skipped exon start: 192779296 | |
| Skipped exon end: 192779561 | |
| Mutation start: 192779562 | |
| Mutation end: 192779563 | |
| Mutation type: Splice_Site | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: . | |
| Sample: TCGA-D7-6520-01 |
| Cancer type: STAD | |
| ESID: exon_skip_14948 | |
| Skipped exon start: 192779296 | |
| Skipped exon end: 192779561 | |
| Mutation start: 192779562 | |
| Mutation end: 192779563 | |
| Mutation type: Splice_Site | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.Y92_splice | |
| Sample: TCGA-D7-6520-01 |
| Cancer type: STAD | |
| ESID: exon_skip_14948 | |
| Skipped exon start: 192779296 | |
| Skipped exon end: 192779561 | |
| Mutation start: 192779563 | |
| Mutation end: 192779564 | |
| Mutation type: Splice_Site | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.Y92_splice | |
exon_skip_103970_STAD_TCGA-D7-6520-01.png | |
exon_skip_14948_STAD_TCGA-D7-6520-01.png | |
 | Sample: TCGA-J9-A52C-01 |
| Cancer type: PRAD | |
| ESID: exon_skip_14948 | |
| Skipped exon start: 192779296 | |
| Skipped exon end: 192779561 | |
| Mutation start: 192779369 | |
| Mutation end: 192779369 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.K63fs | |
exon_skip_14948_PRAD_TCGA-J9-A52C-01.png | |
exon_skip_308974_PRAD_TCGA-J9-A52C-01.png | |
exon_skip_452229_PRAD_TCGA-J9-A52C-01.png | |
exon_skip_452231_PRAD_TCGA-J9-A52C-01.png | |
exon_skip_452232_PRAD_TCGA-J9-A52C-01.png | |
exon_skip_452233_PRAD_TCGA-J9-A52C-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 |
| MFE296_ENDOMETRIUM | 192779296 | 192779561 | 192779369 | 192779369 | Frame_Shift_Del | A | - | p.K63fs |
| CL34_LARGE_INTESTINE | 192779296 | 192779561 | 192779369 | 192779369 | Frame_Shift_Del | A | - | p.K63fs |
| OVK18_OVARY | 192780111 | 192780277 | 192780194 | 192780194 | Frame_Shift_Del | A | - | p.K121fs |
| HS839T_FIBROBLAST | 192779296 | 192779561 | 192779368 | 192779369 | Frame_Shift_Ins | - | A | p.K62fs |
| JHH2_LIVER | 192779296 | 192779561 | 192779368 | 192779369 | Frame_Shift_Ins | - | A | p.K62fs |
| NCIH1876_LUNG | 192779296 | 192779561 | 192779368 | 192779369 | Frame_Shift_Ins | - | A | p.K62fs |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 192779296 | 192779561 | 192779368 | 192779369 | Frame_Shift_Ins | - | A | p.K62fs |
| UO31_KIDNEY | 192779296 | 192779561 | 192779368 | 192779369 | Frame_Shift_Ins | - | A | p.K62fs |
| KYSE520_OESOPHAGUS | 192780111 | 192780277 | 192780124 | 192780125 | Frame_Shift_Ins | - | T | p.F97fs |
| UACC62_SKIN | 192780111 | 192780277 | 192780193 | 192780194 | Frame_Shift_Ins | - | A | p.K120fs |
| OVKATE_OVARY | 192780111 | 192780277 | 192780193 | 192780194 | Frame_Shift_Ins | - | A | p.K120fs |
| LN340_CENTRAL_NERVOUS_SYSTEM | 192780111 | 192780277 | 192780202 | 192780203 | Frame_Shift_Ins | - | A | p.K123fs |
| 253J_URINARY_TRACT | 192779296 | 192779561 | 192779325 | 192779325 | Missense_Mutation | A | G | p.Y47C |
| 253JBV_URINARY_TRACT | 192779296 | 192779561 | 192779325 | 192779325 | Missense_Mutation | A | G | p.Y47C |
| 253J_URINARY_TRACT | 192779296 | 192779561 | 192779328 | 192779328 | Missense_Mutation | T | A | p.F48Y |
| 253JBV_URINARY_TRACT | 192779296 | 192779561 | 192779328 | 192779328 | Missense_Mutation | T | A | p.F48Y |
| KS1_CENTRAL_NERVOUS_SYSTEM | 192779296 | 192779561 | 192779508 | 192779508 | Missense_Mutation | C | T | p.P74L |
| LK2_LUNG | 192779296 | 192779561 | 192779521 | 192779521 | Missense_Mutation | G | C | p.Q78H |
| C75_LARGE_INTESTINE | 192780111 | 192780277 | 192780139 | 192780139 | Missense_Mutation | A | T | p.L101F |
| NCIH1734_LUNG | 192780111 | 192780277 | 192780173 | 192780173 | Missense_Mutation | T | C | p.W113R |
| HLF_LIVER | 192780111 | 192780277 | 192780138 | 192780138 | Nonsense_Mutation | T | A | p.L101* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RGS2 |
| 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 RGS2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RGS2 |
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RelatedDrugs for RGS2 |
| 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 RGS2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RGS2 | C0036341 | Schizophrenia | 2 | PSYGENET |
| RGS2 | C0020538 | Hypertensive disease | 1 | CTD_human |
| RGS2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| RGS2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| RGS2 | C0030569 | Secondary Parkinson Disease | 1 | CTD_human |
| RGS2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| RGS2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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