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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 SGSM1 |
 Gene summary |
| Gene information | Gene symbol | SGSM1 | Gene ID | 129049 |
| Gene name | small G protein signaling modulator 1 | |
| Synonyms | RUTBC2 | |
| Cytomap | 22q11.23 | |
| Type of gene | protein-coding | |
| Description | small G protein signaling modulator 1RUN and TBC1 domain containing 2RUN and TBC1 domain-containing protein 2small G protein signaling modulator 1 protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q2NKQ1 | |
| Context | PubMed: SGSM1 [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 SGSM1 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 SGSM1 |
| 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 SGSM1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_363963 | 22 | 25202407:25202451:25209644:25209722:25209975:25210159 | 25209644:25209722 | ENSG00000167037.14 | ENST00000470591.1 |
| exon_skip_363964 | 22 | 25240863:25240939:25243600:25243763:25246246:25246399 | 25243600:25243763 | ENSG00000167037.14 | ENST00000473458.1,ENST00000400358.4,ENST00000480523.1,ENST00000400359.4 |
| exon_skip_363966 | 22 | 25263059:25263127:25264342:25264506:25264689:25264822 | 25264342:25264506 | ENSG00000167037.14 | ENST00000473458.1,ENST00000400358.4,ENST00000480523.1,ENST00000400359.4 |
| exon_skip_363968 | 22 | 25264689:25264822:25270381:25270546:25272543:25272682 | 25270381:25270546 | ENSG00000167037.14 | ENST00000400359.4 |
| exon_skip_363970 | 22 | 25282566:25282695:25289397:25289580:25291189:25291258 | 25289397:25289580 | ENSG00000167037.14 | ENST00000400358.4,ENST00000480523.1,ENST00000400359.4 |
| exon_skip_363971 | 22 | 25301071:25301154:25308609:25308719:25313624:25313721 | 25308609:25308719 | ENSG00000167037.14 | ENST00000473458.1,ENST00000400358.4,ENST00000480523.1,ENST00000400359.4 |
| exon_skip_363972 | 22 | 25313624:25313721:25315792:25315960:25320152:25320560 | 25315792:25315960 | ENSG00000167037.14 | ENST00000473458.1,ENST00000400358.4,ENST00000480523.1,ENST00000400359.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SGSM1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_363963 | 22 | 25202407:25202451:25209644:25209722:25209975:25210159 | 25209644:25209722 | ENSG00000167037.14 | ENST00000470591.1 |
| exon_skip_363964 | 22 | 25240863:25240939:25243600:25243763:25246246:25246399 | 25243600:25243763 | ENSG00000167037.14 | ENST00000400358.4,ENST00000400359.4,ENST00000473458.1,ENST00000480523.1 |
| exon_skip_363966 | 22 | 25263059:25263127:25264342:25264506:25264689:25264822 | 25264342:25264506 | ENSG00000167037.14 | ENST00000400358.4,ENST00000400359.4,ENST00000473458.1,ENST00000480523.1 |
| exon_skip_363968 | 22 | 25264689:25264822:25270381:25270546:25272543:25272682 | 25270381:25270546 | ENSG00000167037.14 | ENST00000400359.4 |
| exon_skip_363970 | 22 | 25282566:25282695:25289397:25289580:25291189:25291258 | 25289397:25289580 | ENSG00000167037.14 | ENST00000400358.4,ENST00000400359.4,ENST00000480523.1 |
| exon_skip_363971 | 22 | 25301071:25301154:25308609:25308719:25313624:25313721 | 25308609:25308719 | ENSG00000167037.14 | ENST00000400358.4,ENST00000400359.4,ENST00000473458.1,ENST00000480523.1 |
| exon_skip_363972 | 22 | 25313624:25313721:25315792:25315960:25320152:25320560 | 25315792:25315960 | ENSG00000167037.14 | ENST00000400358.4,ENST00000400359.4,ENST00000473458.1,ENST00000480523.1 |
| 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 SGSM1 |
| 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 |
| ENST00000400359 | 25243600 | 25243763 | Frame-shift |
| ENST00000400359 | 25264342 | 25264506 | Frame-shift |
| ENST00000400359 | 25308609 | 25308719 | Frame-shift |
| ENST00000400359 | 25270381 | 25270546 | In-frame |
| ENST00000400359 | 25289397 | 25289580 | In-frame |
| ENST00000400359 | 25315792 | 25315960 | 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 |
| ENST00000400359 | 25243600 | 25243763 | Frame-shift |
| ENST00000400359 | 25264342 | 25264506 | Frame-shift |
| ENST00000400359 | 25308609 | 25308719 | Frame-shift |
| ENST00000400359 | 25270381 | 25270546 | In-frame |
| ENST00000400359 | 25289397 | 25289580 | In-frame |
| ENST00000400359 | 25315792 | 25315960 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SGSM1 |
| 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 |
| ENST00000400359 | 4334 | 1148 | 25270381 | 25270546 | 1299 | 1463 | 430 | 485 |
| ENST00000400359 | 4334 | 1148 | 25289397 | 25289580 | 1943 | 2125 | 645 | 706 |
| ENST00000400359 | 4334 | 1148 | 25315792 | 25315960 | 3198 | 3365 | 1063 | 1119 |
| 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 |
| ENST00000400359 | 4334 | 1148 | 25270381 | 25270546 | 1299 | 1463 | 430 | 485 |
| ENST00000400359 | 4334 | 1148 | 25289397 | 25289580 | 1943 | 2125 | 645 | 706 |
| ENST00000400359 | 4334 | 1148 | 25315792 | 25315960 | 3198 | 3365 | 1063 | 1119 |
| 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 SGSM1 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_363966 | 25264343 | 25264506 | 25264377 | 25264377 | Frame_Shift_Del | G | - | p.Q343fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_363968 | 25270382 | 25270546 | 25270422 | 25270422 | Frame_Shift_Del | G | - | p.V444fs |
| STAD | TCGA-BR-8368-01 | exon_skip_363971 | 25308610 | 25308719 | 25308665 | 25308665 | Frame_Shift_Del | C | - | p.F1013fs |
| OV | TCGA-10-0930-01 | exon_skip_363964 | 25243601 | 25243763 | 25243735 | 25243735 | Nonsense_Mutation | C | T | p.Q92* |
| BRCA | TCGA-BH-A0DH-01 | exon_skip_363963 | 25209645 | 25209722 | 25209724 | 25209724 | Splice_Site | T | C | NULL |
| - 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 |
| SKMEL2_SKIN | 25243601 | 25243763 | 25243737 | 25243744 | Frame_Shift_Del | AGACCTGG | - | p.DLE93fs |
| RKO_LARGE_INTESTINE | 25270382 | 25270546 | 25270540 | 25270540 | Frame_Shift_Del | C | - | p.P485fs |
| MFE319_ENDOMETRIUM | 25270382 | 25270546 | 25270540 | 25270540 | Frame_Shift_Del | C | - | p.P485fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25243601 | 25243763 | 25243633 | 25243633 | Missense_Mutation | C | T | p.R58W |
| BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25243601 | 25243763 | 25243640 | 25243640 | Missense_Mutation | G | A | p.R60Q |
| CCK81_LARGE_INTESTINE | 25243601 | 25243763 | 25243657 | 25243657 | Missense_Mutation | C | T | p.R66C |
| IGR1_SKIN | 25243601 | 25243763 | 25243661 | 25243661 | Missense_Mutation | G | T | p.S67I |
| LP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25243601 | 25243763 | 25243706 | 25243706 | Missense_Mutation | C | T | p.P82L |
| SW480_LARGE_INTESTINE | 25243601 | 25243763 | 25243740 | 25243740 | Missense_Mutation | C | A | p.D93E |
| SKLMS1_SOFT_TISSUE | 25264343 | 25264506 | 25264357 | 25264357 | Missense_Mutation | A | G | p.T337A |
| VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25264343 | 25264506 | 25264357 | 25264357 | Missense_Mutation | A | G | p.T337A |
| LC1SQSF_LUNG | 25264343 | 25264506 | 25264364 | 25264364 | Missense_Mutation | T | G | p.V339G |
| BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25264343 | 25264506 | 25264364 | 25264364 | Missense_Mutation | T | G | p.V339G |
| SW962_VULVA | 25264343 | 25264506 | 25264369 | 25264369 | Missense_Mutation | G | A | p.V341I |
| HEC108_ENDOMETRIUM | 25264343 | 25264506 | 25264381 | 25264381 | Missense_Mutation | G | A | p.G345R |
| NCIH2023_LUNG | 25264343 | 25264506 | 25264449 | 25264449 | Missense_Mutation | G | T | p.E367D |
| SW684_SOFT_TISSUE | 25270382 | 25270546 | 25270409 | 25270409 | Missense_Mutation | C | T | p.S440F |
| SNU1040_LARGE_INTESTINE | 25289398 | 25289580 | 25289459 | 25289459 | Missense_Mutation | C | T | p.A666V |
| SNUC4_LARGE_INTESTINE | 25289398 | 25289580 | 25289492 | 25289492 | Missense_Mutation | C | T | p.A677V |
| EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25308610 | 25308719 | 25308651 | 25308651 | Missense_Mutation | A | G | p.M1009V |
| RKO_LARGE_INTESTINE | 25308610 | 25308719 | 25308672 | 25308672 | Missense_Mutation | G | A | p.G1016R |
| SKMEL2_SKIN | 25308610 | 25308719 | 25308684 | 25308684 | Missense_Mutation | G | A | p.D1020N |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 25315793 | 25315960 | 25315823 | 25315823 | Missense_Mutation | G | T | p.W1074L |
| NCIH650_LUNG | 25315793 | 25315960 | 25315846 | 25315846 | Missense_Mutation | C | T | p.H1082Y |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25315793 | 25315960 | 25315904 | 25315904 | Missense_Mutation | G | A | p.R1101H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SGSM1 |
| 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 SGSM1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SGSM1 |
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RelatedDrugs for SGSM1 |
| 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 SGSM1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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