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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 RGS12 |
 Gene summary |
| Gene information | Gene symbol | RGS12 | Gene ID | 6002 |
| Gene name | regulator of G protein signaling 12 | |
| Synonyms | - | |
| Cytomap | 4p16.3 | |
| Type of gene | protein-coding | |
| Description | regulator of G-protein signaling 12regulator of G-protein signalling 12 | |
| Modification date | 20180519 | |
| UniProtAcc | O14924 | |
| Context | PubMed: RGS12 [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 RGS12 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 RGS12 |
| 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 RGS12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_421716 | 4 | 3319765:3319778:3344663:3344780:3388142:3388164 | 3344663:3344780 | ENSG00000159788.14 | ENST00000344733.5,ENST00000336727.3,ENST00000382788.3 |
| exon_skip_421717 | 4 | 3319765:3319778:3344663:3344780:3415798:3415968 | 3344663:3344780 | ENSG00000159788.14 | ENST00000543385.1,ENST00000514268.1 |
| exon_skip_421719 | 4 | 3344663:3344780:3388142:3388164:3415798:3415968 | 3388142:3388164 | ENSG00000159788.14 | ENST00000513784.3,ENST00000506631.1,ENST00000344733.5,ENST00000336727.3,ENST00000382788.3,ENST00000306648.7 |
| exon_skip_421721 | 4 | 3371912:3372048:3388142:3388164:3415798:3415968 | 3388142:3388164 | ENSG00000159788.14 | ENST00000506998.1,ENST00000338806.4 |
| exon_skip_421727 | 4 | 3388142:3388164:3415798:3415968:3416478:3416571 | 3415798:3415968 | ENSG00000159788.14 | ENST00000513784.3,ENST00000538395.1,ENST00000506631.1,ENST00000344733.5,ENST00000336727.3,ENST00000506998.1,ENST00000503041.1,ENST00000382788.3,ENST00000306648.7,ENST00000508158.1,ENST00000338806.4 |
| exon_skip_421730 | 4 | 3419239:3419268:3422368:3422445:3424102:3424251 | 3422368:3422445 | ENSG00000159788.14 | ENST00000513991.1,ENST00000538395.1,ENST00000344733.5,ENST00000515521.1,ENST00000336727.3,ENST00000504194.1,ENST00000382788.3,ENST00000306648.7,ENST00000508158.1,ENST00000338806.4 |
| exon_skip_421731 | 4 | 3424279:3424297:3424631:3424705:3425241:3425368 | 3424631:3424705 | ENSG00000159788.14 | ENST00000509746.1,ENST00000513991.1,ENST00000538395.1,ENST00000507246.1,ENST00000344733.5,ENST00000515521.1,ENST00000511709.1,ENST00000336727.3,ENST00000504194.1,ENST00000382788.3,ENST00000306648.7,ENST00000508158.1,ENST00000507041.1,ENST00000338806.4 |
| exon_skip_421736 | 4 | 3427192:3427287:3428332:3428481:3429816:3429864 | 3428332:3428481 | ENSG00000159788.14 | ENST00000515521.1 |
| exon_skip_421737 | 4 | 3429825:3429896:3430284:3430438:3432133:3432174 | 3430284:3430438 | ENSG00000159788.14 | ENST00000344733.5,ENST00000336727.3,ENST00000504194.1,ENST00000382788.3,ENST00000338806.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RGS12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_421716 | 4 | 3319765:3319778:3344663:3344780:3388142:3388164 | 3344663:3344780 | ENSG00000159788.14 | ENST00000344733.5,ENST00000336727.3,ENST00000382788.3 |
| exon_skip_421717 | 4 | 3319765:3319778:3344663:3344780:3415798:3415968 | 3344663:3344780 | ENSG00000159788.14 | ENST00000543385.1,ENST00000514268.1 |
| exon_skip_421719 | 4 | 3344663:3344780:3388142:3388164:3415798:3415968 | 3388142:3388164 | ENSG00000159788.14 | ENST00000506631.1,ENST00000344733.5,ENST00000336727.3,ENST00000382788.3,ENST00000513784.3,ENST00000306648.7 |
| exon_skip_421721 | 4 | 3371912:3372048:3388142:3388164:3415798:3415968 | 3388142:3388164 | ENSG00000159788.14 | ENST00000338806.4,ENST00000506998.1 |
| exon_skip_421727 | 4 | 3388142:3388164:3415798:3415968:3416478:3416571 | 3415798:3415968 | ENSG00000159788.14 | ENST00000506631.1,ENST00000344733.5,ENST00000336727.3,ENST00000382788.3,ENST00000513784.3,ENST00000306648.7,ENST00000338806.4,ENST00000506998.1,ENST00000508158.1,ENST00000503041.1,ENST00000538395.1 |
| exon_skip_421730 | 4 | 3419239:3419268:3422368:3422445:3424102:3424251 | 3422368:3422445 | ENSG00000159788.14 | ENST00000344733.5,ENST00000336727.3,ENST00000382788.3,ENST00000306648.7,ENST00000338806.4,ENST00000508158.1,ENST00000504194.1,ENST00000538395.1,ENST00000513991.1,ENST00000515521.1 |
| exon_skip_421731 | 4 | 3424279:3424297:3424631:3424705:3425241:3425368 | 3424631:3424705 | ENSG00000159788.14 | ENST00000344733.5,ENST00000336727.3,ENST00000382788.3,ENST00000306648.7,ENST00000338806.4,ENST00000508158.1,ENST00000504194.1,ENST00000538395.1,ENST00000513991.1,ENST00000515521.1,ENST00000509746.1,ENST00000511709.1,ENST00000507041.1,ENST00000507246.1 |
| exon_skip_421736 | 4 | 3427192:3427287:3428332:3428481:3429816:3429864 | 3428332:3428481 | ENSG00000159788.14 | ENST00000515521.1 |
| exon_skip_421737 | 4 | 3429825:3429896:3430284:3430438:3432133:3432174 | 3430284:3430438 | ENSG00000159788.14 | ENST00000344733.5,ENST00000336727.3,ENST00000382788.3,ENST00000338806.4,ENST00000504194.1 |
| 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 RGS12 |
| 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 |
| ENST00000336727 | 3388142 | 3388164 | Frame-shift |
| ENST00000344733 | 3388142 | 3388164 | Frame-shift |
| ENST00000336727 | 3415798 | 3415968 | Frame-shift |
| ENST00000344733 | 3415798 | 3415968 | Frame-shift |
| ENST00000336727 | 3422368 | 3422445 | Frame-shift |
| ENST00000344733 | 3422368 | 3422445 | Frame-shift |
| ENST00000336727 | 3424631 | 3424705 | Frame-shift |
| ENST00000344733 | 3424631 | 3424705 | Frame-shift |
| ENST00000336727 | 3430284 | 3430438 | Frame-shift |
| ENST00000344733 | 3430284 | 3430438 | Frame-shift |
| ENST00000336727 | 3344663 | 3344780 | In-frame |
| ENST00000344733 | 3344663 | 3344780 | 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 |
| ENST00000336727 | 3388142 | 3388164 | Frame-shift |
| ENST00000344733 | 3388142 | 3388164 | Frame-shift |
| ENST00000336727 | 3415798 | 3415968 | Frame-shift |
| ENST00000344733 | 3415798 | 3415968 | Frame-shift |
| ENST00000336727 | 3422368 | 3422445 | Frame-shift |
| ENST00000344733 | 3422368 | 3422445 | Frame-shift |
| ENST00000336727 | 3424631 | 3424705 | Frame-shift |
| ENST00000344733 | 3424631 | 3424705 | Frame-shift |
| ENST00000336727 | 3430284 | 3430438 | Frame-shift |
| ENST00000344733 | 3430284 | 3430438 | Frame-shift |
| ENST00000336727 | 3344663 | 3344780 | In-frame |
| ENST00000344733 | 3344663 | 3344780 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RGS12 |
| 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 |
| ENST00000336727 | 6257 | 1447 | 3344663 | 3344780 | 2786 | 2902 | 627 | 666 |
| ENST00000344733 | 5486 | 1447 | 3344663 | 3344780 | 2786 | 2902 | 627 | 666 |
| 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 |
| ENST00000336727 | 6257 | 1447 | 3344663 | 3344780 | 2786 | 2902 | 627 | 666 |
| ENST00000344733 | 5486 | 1447 | 3344663 | 3344780 | 2786 | 2902 | 627 | 666 |
| 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 RGS12 |
| - 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. |
RGS12_HNSC_exon_skip_421737_psi_boxplot.png |
RGS12_LUAD_exon_skip_421737_psi_boxplot.png |
RGS12_STAD_exon_skip_421737_psi_boxplot.png |
RGS12_THCA_exon_skip_421737_psi_boxplot.png |
RGS12_UCEC_exon_skip_421737_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 |
| LUAD | TCGA-MP-A4TE-01 | exon_skip_421717 exon_skip_421716 | 3344664 | 3344780 | 3344676 | 3344676 | Frame_Shift_Del | G | - | p.G632fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_421717 exon_skip_421716 | 3344664 | 3344780 | 3344733 | 3344733 | Frame_Shift_Del | G | - | p.G651fs |
| ACC | TCGA-PK-A5HB-01 | exon_skip_421737 | 3430285 | 3430438 | 3430399 | 3430399 | Frame_Shift_Del | A | - | p.K1178fs |
| HNSC | TCGA-QK-A6II-01 | exon_skip_421737 | 3430285 | 3430438 | 3430399 | 3430399 | Frame_Shift_Del | A | - | p.K1178fs |
| LUAD | TCGA-78-7166-01 | exon_skip_421737 | 3430285 | 3430438 | 3430399 | 3430399 | Frame_Shift_Del | A | - | p.K1178fs |
| STAD | TCGA-BR-8361-01 | exon_skip_421737 | 3430285 | 3430438 | 3430399 | 3430400 | Frame_Shift_Del | AA | - | p.1175_1176del |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_421737 | 3430285 | 3430438 | 3430399 | 3430399 | Frame_Shift_Del | A | - | p.K1178fs |
| THCA | TCGA-FK-A3SE-01 | exon_skip_421737 | 3430285 | 3430438 | 3430399 | 3430399 | Frame_Shift_Del | A | - | p.K1178fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_421737 | 3430285 | 3430438 | 3430399 | 3430399 | Frame_Shift_Del | A | - | p.K1176fs |
| BLCA | TCGA-XF-A9T3-01 | exon_skip_421717 exon_skip_421716 | 3344664 | 3344780 | 3344706 | 3344706 | Nonsense_Mutation | C | T | p.Q642* |
| LIHC | TCGA-DD-AAC8-01 | exon_skip_421731 | 3424632 | 3424705 | 3424630 | 3424630 | Splice_Site | A | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-QK-A6II-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_421737 | |
| Skipped exon start: 3430285 | |
| Skipped exon end: 3430438 | |
| Mutation start: 3430399 | |
| Mutation end: 3430399 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.K1178fs | |
exon_skip_421737_HNSC_TCGA-QK-A6II-01.png | |
 | Sample: TCGA-78-7166-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_421737 | |
| Skipped exon start: 3430285 | |
| Skipped exon end: 3430438 | |
| Mutation start: 3430399 | |
| Mutation end: 3430399 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.K1178fs | |
exon_skip_421737_LUAD_TCGA-78-7166-01.png | |
exon_skip_468027_LUAD_TCGA-78-7166-01.png | |
exon_skip_468028_LUAD_TCGA-78-7166-01.png | |
exon_skip_468038_LUAD_TCGA-78-7166-01.png | |
exon_skip_468039_LUAD_TCGA-78-7166-01.png | |
 | Sample: TCGA-BR-8361-01 |
| Cancer type: STAD | |
| ESID: exon_skip_421737 | |
| Skipped exon start: 3430285 | |
| Skipped exon end: 3430438 | |
| Mutation start: 3430399 | |
| Mutation end: 3430400 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: AA | |
| Mutation seq: - | |
| AAchange: p.1175_1176del | |
exon_skip_308974_STAD_TCGA-BR-8361-01.png | |
exon_skip_346425_STAD_TCGA-BR-8361-01.png | |
exon_skip_346426_STAD_TCGA-BR-8361-01.png | |
exon_skip_35193_STAD_TCGA-BR-8361-01.png | |
exon_skip_361242_STAD_TCGA-BR-8361-01.png | |
exon_skip_379370_STAD_TCGA-BR-8361-01.png | |
exon_skip_388276_STAD_TCGA-BR-8361-01.png | |
exon_skip_421737_STAD_TCGA-BR-8361-01.png | |
exon_skip_511069_STAD_TCGA-BR-8361-01.png | |
exon_skip_517775_STAD_TCGA-BR-8361-01.png | |
exon_skip_77254_STAD_TCGA-BR-8361-01.png | |
exon_skip_77846_STAD_TCGA-BR-8361-01.png | |
exon_skip_91288_STAD_TCGA-BR-8361-01.png | |
 | Sample: TCGA-FK-A3SE-01 |
| Cancer type: THCA | |
| ESID: exon_skip_421737 | |
| Skipped exon start: 3430285 | |
| Skipped exon end: 3430438 | |
| Mutation start: 3430399 | |
| Mutation end: 3430399 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.K1178fs | |
exon_skip_421737_THCA_TCGA-FK-A3SE-01.png | |
 | Sample: TCGA-B5-A0K9-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_421737 | |
| Skipped exon start: 3430285 | |
| Skipped exon end: 3430438 | |
| Mutation start: 3430399 | |
| Mutation end: 3430399 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.K1176fs | |
exon_skip_101656_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_25134_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_295913_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_301201_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_319638_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_321422_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_321423_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_321427_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_32745_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_382168_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_420494_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_421737_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_438393_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_468121_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_54935_UCEC_TCGA-B5-A0K9-01.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 | 3430285 | 3430438 | 3430341 | 3430341 | Frame_Shift_Del | A | - | p.G1156fs |
| SNU520_STOMACH | 3430285 | 3430438 | 3430399 | 3430400 | Frame_Shift_Del | AA | - | p.K1178fs |
| OVK18_OVARY | 3430285 | 3430438 | 3430399 | 3430400 | Frame_Shift_Del | AA | - | p.K1178fs |
| PC9_LUNG | 3344664 | 3344780 | 3344670 | 3344670 | Missense_Mutation | A | G | p.K630E |
| PC14_LUNG | 3344664 | 3344780 | 3344670 | 3344670 | Missense_Mutation | A | G | p.K630E |
| LIM1215_LARGE_INTESTINE | 3344664 | 3344780 | 3344679 | 3344679 | Missense_Mutation | C | T | p.R633W |
| JHUEM7_ENDOMETRIUM | 3415799 | 3415968 | 3415891 | 3415891 | Missense_Mutation | C | T | p.R705C |
| AN3CA_ENDOMETRIUM | 3415799 | 3415968 | 3415931 | 3415931 | Missense_Mutation | G | A | p.R718H |
| NCIH1339_LUNG | 3422369 | 3422445 | 3422386 | 3422386 | Missense_Mutation | G | C | p.G927R |
| 22RV1_PROSTATE | 3422369 | 3422445 | 3422392 | 3422392 | Missense_Mutation | C | A | p.L929M |
| BONNA12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3424632 | 3424705 | 3424680 | 3424680 | Missense_Mutation | C | T | p.R1028C |
| SNU175_LARGE_INTESTINE | 3424632 | 3424705 | 3424681 | 3424681 | Missense_Mutation | G | A | p.R1028H |
| SNU1040_LARGE_INTESTINE | 3424632 | 3424705 | 3424693 | 3424693 | Missense_Mutation | G | A | p.R1032H |
| SNU81_LARGE_INTESTINE | 3430285 | 3430438 | 3430316 | 3430316 | Missense_Mutation | C | A | p.S1148Y |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 3430285 | 3430438 | 3430346 | 3430346 | Missense_Mutation | A | G | p.N1158S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3430285 | 3430438 | 3430346 | 3430346 | Missense_Mutation | A | G | p.N1158S |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3430285 | 3430438 | 3430399 | 3430399 | Missense_Mutation | A | G | p.K1176E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RGS12 |
| 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 RGS12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RGS12 |
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RelatedDrugs for RGS12 |
| 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 RGS12 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RGS12 | C0036341 | Schizophrenia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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