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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 SMG1 |
 Gene summary |
| Gene information | Gene symbol | SMG1 | Gene ID | 23049 |
| Gene name | SMG1, nonsense mediated mRNA decay associated PI3K related kinase | |
| Synonyms | 61E3.4|ATX|LIP | |
| Cytomap | 16p12.3 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase SMG1PI-3-kinase-related kinase SMG-1SMG1 phosphatidylinositol 3-kinase-related kinaselambda-interacting proteinlambda/iota protein kinase C-interacting proteinsmg-1 homolog, phosphatidylinositol 3-kinase-related kinase | |
| Modification date | 20180523 | |
| UniProtAcc | Q96Q15 | |
| Context | PubMed: SMG1 [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 |
| SMG1 | GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 11544179 |
| SMG1 | GO:0018105 | peptidyl-serine phosphorylation | 11544179|15175154 |
| SMG1 | GO:0046777 | protein autophosphorylation | 11331269|11544179 |
| SMG1 | GO:0046854 | phosphatidylinositol phosphorylation | 11331269 |
| SMG1 | GO:2001020 | regulation of response to DNA damage stimulus | 15175154 |
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Exon skipping events across known transcript of Ensembl for SMG1 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 SMG1 |
| 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 SMG1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_142514 | 16 | 18823332:18823449:18826496:18826603:18826761:18826973 | 18826496:18826603 | ENSG00000157106.12 | ENST00000561940.1,ENST00000565324.1,ENST00000446231.2,ENST00000389467.3 |
| exon_skip_142516 | 16 | 18828612:18828792:18830823:18830976:18839352:18839490 | 18830823:18830976 | ENSG00000157106.12 | ENST00000565324.1,ENST00000446231.2,ENST00000389467.3 |
| exon_skip_142518 | 16 | 18840607:18841077:18841247:18841437:18841540:18841691 | 18841247:18841437 | ENSG00000157106.12 | ENST00000565324.1,ENST00000446231.2,ENST00000389467.3 |
| exon_skip_142521 | 16 | 18841247:18841437:18841540:18841691:18844261:18844488 | 18841540:18841691 | ENSG00000157106.12 | ENST00000565324.1,ENST00000446231.2,ENST00000389467.3 |
| exon_skip_142523 | 16 | 18847681:18847854:18848574:18848765:18849335:18849554 | 18848574:18848765 | ENSG00000157106.12 | ENST00000565324.1,ENST00000446231.2,ENST00000389467.3 |
| exon_skip_142525 | 16 | 18848574:18848765:18849335:18849554:18849678:18849788 | 18849335:18849554 | ENSG00000157106.12 | ENST00000565324.1,ENST00000446231.2,ENST00000389467.3 |
| exon_skip_142530 | 16 | 18849335:18849554:18849678:18849788:18849872:18850011 | 18849678:18849788 | ENSG00000157106.12 | ENST00000565324.1,ENST00000446231.2,ENST00000389467.3 |
| exon_skip_142531 | 16 | 18849872:18850011:18851019:18851268:18852886:18853116 | 18851019:18851268 | ENSG00000157106.12 | ENST00000565324.1,ENST00000446231.2,ENST00000563448.1,ENST00000389467.3 |
| exon_skip_142534 | 16 | 18853529:18853776:18856750:18856973:18858774:18858929 | 18856750:18856973 | ENSG00000157106.12 | ENST00000565324.1,ENST00000446231.2,ENST00000563448.1,ENST00000389467.3 |
| exon_skip_142535 | 16 | 18859137:18859355:18860538:18860700:18861270:18861448 | 18860538:18860700 | ENSG00000157106.12 | ENST00000565324.1,ENST00000446231.2,ENST00000563448.1,ENST00000389467.3 |
| exon_skip_142537 | 16 | 18878008:18878097:18879511:18879676:18879844:18880041 | 18879511:18879676 | ENSG00000157106.12 | ENST00000565324.1,ENST00000563235.1,ENST00000446231.2,ENST00000389467.3 |
| exon_skip_142538 | 16 | 18880425:18880625:18881175:18881316:18881931:18882033 | 18881175:18881316 | ENSG00000157106.12 | ENST00000565324.1,ENST00000563235.1,ENST00000446231.2,ENST00000389467.3,ENST00000568038.1 |
| exon_skip_142541 | 16 | 18888452:18888554:18890816:18891041:18893486:18893660 | 18890816:18891041 | ENSG00000157106.12 | ENST00000565224.1,ENST00000565324.1,ENST00000446231.2,ENST00000389467.3,ENST00000561947.1 |
| exon_skip_142544 | 16 | 18893486:18893660:18895391:18895489:18896411:18896484 | 18895391:18895489 | ENSG00000157106.12 | ENST00000565224.1,ENST00000565324.1,ENST00000446231.2,ENST00000389467.3,ENST00000561947.1 |
| exon_skip_142546 | 16 | 18895426:18895489:18896411:18896484:18896862:18896988 | 18896411:18896484 | ENSG00000157106.12 | ENST00000565224.1,ENST00000532700.2,ENST00000565324.1,ENST00000446231.2,ENST00000389467.3,ENST00000561947.1 |
| exon_skip_142548 | 16 | 18896862:18896988:18900693:18900907:18902184:18902243 | 18900693:18900907 | ENSG00000157106.12 | ENST00000565224.1,ENST00000532700.2,ENST00000565324.1,ENST00000446231.2,ENST00000389467.3,ENST00000561947.1 |
| exon_skip_142549 | 16 | 18903539:18903676:18907373:18907529:18908114:18908196 | 18907373:18907529 | ENSG00000157106.12 | ENST00000565224.1,ENST00000532700.2,ENST00000446231.2,ENST00000389467.3,ENST00000569122.1 |
| exon_skip_142551 | 16 | 18908122:18908278:18911308:18911366:18922684:18923035 | 18911308:18911366 | ENSG00000157106.12 | ENST00000563836.1 |
| exon_skip_142553 | 16 | 18908122:18908278:18911308:18911366:18937271:18937361 | 18911308:18911366 | ENSG00000157106.12 | ENST00000532700.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SMG1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_142514 | 16 | 18823332:18823449:18826496:18826603:18826761:18826973 | 18826496:18826603 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1,ENST00000561940.1 |
| exon_skip_142516 | 16 | 18828612:18828792:18830823:18830976:18839352:18839490 | 18830823:18830976 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1 |
| exon_skip_142518 | 16 | 18840607:18841077:18841247:18841437:18841540:18841691 | 18841247:18841437 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1 |
| exon_skip_142521 | 16 | 18841247:18841437:18841540:18841691:18844261:18844488 | 18841540:18841691 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1 |
| exon_skip_142523 | 16 | 18847681:18847854:18848574:18848765:18849335:18849554 | 18848574:18848765 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1 |
| exon_skip_142525 | 16 | 18848574:18848765:18849335:18849554:18849678:18849788 | 18849335:18849554 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1 |
| exon_skip_142530 | 16 | 18849335:18849554:18849678:18849788:18849872:18850011 | 18849678:18849788 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1 |
| exon_skip_142531 | 16 | 18849872:18850011:18851019:18851268:18852886:18853116 | 18851019:18851268 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1,ENST00000563448.1 |
| exon_skip_142534 | 16 | 18853529:18853776:18856750:18856973:18858774:18858929 | 18856750:18856973 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1,ENST00000563448.1 |
| exon_skip_142535 | 16 | 18859137:18859355:18860538:18860700:18861270:18861448 | 18860538:18860700 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1,ENST00000563448.1 |
| exon_skip_142538 | 16 | 18880425:18880625:18881175:18881316:18881931:18882033 | 18881175:18881316 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1,ENST00000563235.1,ENST00000568038.1 |
| exon_skip_142541 | 16 | 18888452:18888554:18890816:18891041:18893486:18893660 | 18890816:18891041 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1,ENST00000561947.1,ENST00000565224.1 |
| exon_skip_142546 | 16 | 18895426:18895489:18896411:18896484:18896862:18896988 | 18896411:18896484 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1,ENST00000561947.1,ENST00000565224.1,ENST00000532700.2 |
| exon_skip_142548 | 16 | 18896862:18896988:18900693:18900907:18902184:18902243 | 18900693:18900907 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565324.1,ENST00000561947.1,ENST00000565224.1,ENST00000532700.2 |
| exon_skip_142549 | 16 | 18903539:18903676:18907373:18907529:18908114:18908196 | 18907373:18907529 | ENSG00000157106.12 | ENST00000446231.2,ENST00000389467.3,ENST00000565224.1,ENST00000532700.2,ENST00000569122.1 |
| exon_skip_142551 | 16 | 18908122:18908278:18911308:18911366:18922684:18923035 | 18911308:18911366 | ENSG00000157106.12 | ENST00000563836.1 |
| exon_skip_142553 | 16 | 18908122:18908278:18911308:18911366:18937271:18937361 | 18911308:18911366 | ENSG00000157106.12 | ENST00000532700.2 |
| 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 SMG1 |
| 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 |
| ENST00000446231 | 18826496 | 18826603 | Frame-shift |
| ENST00000446231 | 18841247 | 18841437 | Frame-shift |
| ENST00000446231 | 18841540 | 18841691 | Frame-shift |
| ENST00000446231 | 18848574 | 18848765 | Frame-shift |
| ENST00000446231 | 18849678 | 18849788 | Frame-shift |
| ENST00000446231 | 18856750 | 18856973 | Frame-shift |
| ENST00000446231 | 18895391 | 18895489 | Frame-shift |
| ENST00000446231 | 18896411 | 18896484 | Frame-shift |
| ENST00000446231 | 18900693 | 18900907 | Frame-shift |
| ENST00000446231 | 18830823 | 18830976 | In-frame |
| ENST00000446231 | 18849335 | 18849554 | In-frame |
| ENST00000446231 | 18851019 | 18851268 | In-frame |
| ENST00000446231 | 18860538 | 18860700 | In-frame |
| ENST00000446231 | 18879511 | 18879676 | In-frame |
| ENST00000446231 | 18881175 | 18881316 | In-frame |
| ENST00000446231 | 18890816 | 18891041 | In-frame |
| ENST00000446231 | 18907373 | 18907529 | 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 |
| ENST00000446231 | 18826496 | 18826603 | Frame-shift |
| ENST00000446231 | 18841247 | 18841437 | Frame-shift |
| ENST00000446231 | 18841540 | 18841691 | Frame-shift |
| ENST00000446231 | 18848574 | 18848765 | Frame-shift |
| ENST00000446231 | 18849678 | 18849788 | Frame-shift |
| ENST00000446231 | 18856750 | 18856973 | Frame-shift |
| ENST00000446231 | 18896411 | 18896484 | Frame-shift |
| ENST00000446231 | 18900693 | 18900907 | Frame-shift |
| ENST00000446231 | 18830823 | 18830976 | In-frame |
| ENST00000446231 | 18849335 | 18849554 | In-frame |
| ENST00000446231 | 18851019 | 18851268 | In-frame |
| ENST00000446231 | 18860538 | 18860700 | In-frame |
| ENST00000446231 | 18881175 | 18881316 | In-frame |
| ENST00000446231 | 18890816 | 18891041 | In-frame |
| ENST00000446231 | 18907373 | 18907529 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SMG1 |
| 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 |
| ENST00000446231 | 16132 | 3661 | 18907373 | 18907529 | 670 | 825 | 85 | 137 |
| ENST00000446231 | 16132 | 3661 | 18890816 | 18891041 | 1707 | 1931 | 431 | 506 |
| ENST00000446231 | 16132 | 3661 | 18881175 | 18881316 | 2906 | 3046 | 831 | 877 |
| ENST00000446231 | 16132 | 3661 | 18879511 | 18879676 | 3444 | 3608 | 1010 | 1065 |
| ENST00000446231 | 16132 | 3661 | 18860538 | 18860700 | 5875 | 6036 | 1820 | 1874 |
| ENST00000446231 | 16132 | 3661 | 18851019 | 18851268 | 7110 | 7358 | 2232 | 2315 |
| ENST00000446231 | 16132 | 3661 | 18849335 | 18849554 | 7608 | 7826 | 2398 | 2471 |
| ENST00000446231 | 16132 | 3661 | 18830823 | 18830976 | 10155 | 10307 | 3247 | 3298 |
| 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 |
| ENST00000446231 | 16132 | 3661 | 18907373 | 18907529 | 670 | 825 | 85 | 137 |
| ENST00000446231 | 16132 | 3661 | 18890816 | 18891041 | 1707 | 1931 | 431 | 506 |
| ENST00000446231 | 16132 | 3661 | 18881175 | 18881316 | 2906 | 3046 | 831 | 877 |
| ENST00000446231 | 16132 | 3661 | 18860538 | 18860700 | 5875 | 6036 | 1820 | 1874 |
| ENST00000446231 | 16132 | 3661 | 18851019 | 18851268 | 7110 | 7358 | 2232 | 2315 |
| ENST00000446231 | 16132 | 3661 | 18849335 | 18849554 | 7608 | 7826 | 2398 | 2471 |
| ENST00000446231 | 16132 | 3661 | 18830823 | 18830976 | 10155 | 10307 | 3247 | 3298 |
| 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 |
| Q96Q15 | 85 | 137 | 1 | 1269 | Alternative sequence | ID=VSP_017746;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9566925;Dbxref=PMID:9566925 |
| Q96Q15 | 85 | 137 | 1 | 630 | Alternative sequence | ID=VSP_017747;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331269;Dbxref=PMID:11331269 |
| Q96Q15 | 85 | 137 | 1 | 140 | Alternative sequence | ID=VSP_017748;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15175154;Dbxref=PMID:15175154 |
| Q96Q15 | 85 | 137 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 85 | 137 | 126 | 126 | Natural variant | ID=VAR_041624;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs752796432,PMID:17344846 |
| Q96Q15 | 85 | 137 | 1 | 1977 | Region | Note=Interaction with SMG8 and SMG9;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21245168;Dbxref=PMID:21245168 |
| Q96Q15 | 431 | 506 | 1 | 1269 | Alternative sequence | ID=VSP_017746;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9566925;Dbxref=PMID:9566925 |
| Q96Q15 | 431 | 506 | 1 | 630 | Alternative sequence | ID=VSP_017747;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331269;Dbxref=PMID:11331269 |
| Q96Q15 | 431 | 506 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 431 | 506 | 465 | 465 | Natural variant | ID=VAR_041630;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs200419100,PMID:17344846 |
| Q96Q15 | 431 | 506 | 1 | 1977 | Region | Note=Interaction with SMG8 and SMG9;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21245168;Dbxref=PMID:21245168 |
| Q96Q15 | 831 | 877 | 1 | 1269 | Alternative sequence | ID=VSP_017746;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9566925;Dbxref=PMID:9566925 |
| Q96Q15 | 831 | 877 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 831 | 877 | 832 | 832 | Natural variant | ID=VAR_041638;Note=N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs80176913,PMID:17344846 |
| Q96Q15 | 831 | 877 | 1 | 1977 | Region | Note=Interaction with SMG8 and SMG9;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21245168;Dbxref=PMID:21245168 |
| Q96Q15 | 1010 | 1065 | 1 | 1269 | Alternative sequence | ID=VSP_017746;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9566925;Dbxref=PMID:9566925 |
| Q96Q15 | 1010 | 1065 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 1010 | 1065 | 1016 | 1016 | Natural variant | ID=VAR_041641;Note=F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| Q96Q15 | 1010 | 1065 | 1029 | 1029 | Natural variant | ID=VAR_041642;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| Q96Q15 | 1010 | 1065 | 1 | 1977 | Region | Note=Interaction with SMG8 and SMG9;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21245168;Dbxref=PMID:21245168 |
| Q96Q15 | 1820 | 1874 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 1820 | 1874 | 1131 | 1866 | Domain | Note=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534 |
| Q96Q15 | 1820 | 1874 | 1 | 1977 | Region | Note=Interaction with SMG8 and SMG9;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21245168;Dbxref=PMID:21245168 |
| Q96Q15 | 1820 | 1874 | 1817 | 1852 | Repeat | Note=HEAT |
| Q96Q15 | 2232 | 2315 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 2232 | 2315 | 2150 | 2478 | Domain | Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 |
| Q96Q15 | 2232 | 2315 | 2258 | 2258 | Natural variant | ID=VAR_041651;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35572280,PMID:17344846 |
| Q96Q15 | 2398 | 2471 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 2398 | 2471 | 2150 | 2478 | Domain | Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 |
| Q96Q15 | 3247 | 3298 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| 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 |
| Q96Q15 | 85 | 137 | 1 | 1269 | Alternative sequence | ID=VSP_017746;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9566925;Dbxref=PMID:9566925 |
| Q96Q15 | 85 | 137 | 1 | 630 | Alternative sequence | ID=VSP_017747;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331269;Dbxref=PMID:11331269 |
| Q96Q15 | 85 | 137 | 1 | 140 | Alternative sequence | ID=VSP_017748;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15175154;Dbxref=PMID:15175154 |
| Q96Q15 | 85 | 137 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 85 | 137 | 126 | 126 | Natural variant | ID=VAR_041624;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs752796432,PMID:17344846 |
| Q96Q15 | 85 | 137 | 1 | 1977 | Region | Note=Interaction with SMG8 and SMG9;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21245168;Dbxref=PMID:21245168 |
| Q96Q15 | 431 | 506 | 1 | 1269 | Alternative sequence | ID=VSP_017746;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9566925;Dbxref=PMID:9566925 |
| Q96Q15 | 431 | 506 | 1 | 630 | Alternative sequence | ID=VSP_017747;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331269;Dbxref=PMID:11331269 |
| Q96Q15 | 431 | 506 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 431 | 506 | 465 | 465 | Natural variant | ID=VAR_041630;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs200419100,PMID:17344846 |
| Q96Q15 | 431 | 506 | 1 | 1977 | Region | Note=Interaction with SMG8 and SMG9;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21245168;Dbxref=PMID:21245168 |
| Q96Q15 | 831 | 877 | 1 | 1269 | Alternative sequence | ID=VSP_017746;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9566925;Dbxref=PMID:9566925 |
| Q96Q15 | 831 | 877 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 831 | 877 | 832 | 832 | Natural variant | ID=VAR_041638;Note=N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs80176913,PMID:17344846 |
| Q96Q15 | 831 | 877 | 1 | 1977 | Region | Note=Interaction with SMG8 and SMG9;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21245168;Dbxref=PMID:21245168 |
| Q96Q15 | 1820 | 1874 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 1820 | 1874 | 1131 | 1866 | Domain | Note=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534 |
| Q96Q15 | 1820 | 1874 | 1 | 1977 | Region | Note=Interaction with SMG8 and SMG9;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21245168;Dbxref=PMID:21245168 |
| Q96Q15 | 1820 | 1874 | 1817 | 1852 | Repeat | Note=HEAT |
| Q96Q15 | 2232 | 2315 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 2232 | 2315 | 2150 | 2478 | Domain | Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 |
| Q96Q15 | 2232 | 2315 | 2258 | 2258 | Natural variant | ID=VAR_041651;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35572280,PMID:17344846 |
| Q96Q15 | 2398 | 2471 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
| Q96Q15 | 2398 | 2471 | 2150 | 2478 | Domain | Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 |
| Q96Q15 | 3247 | 3298 | 1 | 3661 | Chain | ID=PRO_0000229791;Note=Serine/threonine-protein kinase SMG1 |
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SNVs in the skipped exons for SMG1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| UCEC | TCGA-AP-A0LL-01 | exon_skip_142518 | 18841248 | 18841437 | 18841330 | 18841346 | Frame_Shift_Del | TAGCACCTGCCGGTGAT | - | p.N3012fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_142518 | 18841248 | 18841437 | 18841357 | 18841357 | Frame_Shift_Del | A | - | p.F3008fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_142518 | 18841248 | 18841437 | 18841357 | 18841357 | Frame_Shift_Del | A | - | p.D3009fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_142518 | 18841248 | 18841437 | 18841357 | 18841357 | Frame_Shift_Del | A | - | p.F3008fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_142523 | 18848575 | 18848765 | 18848606 | 18848606 | Frame_Shift_Del | C | - | p.V2525fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_142531 | 18851020 | 18851268 | 18851223 | 18851223 | Frame_Shift_Del | G | - | p.R2248fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_142531 | 18851020 | 18851268 | 18851223 | 18851223 | Frame_Shift_Del | G | - | p.R2248fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_142531 | 18851020 | 18851268 | 18851223 | 18851223 | Frame_Shift_Del | G | - | p.R2248fs |
| HNSC | TCGA-DQ-7591-01 | exon_skip_142534 | 18856751 | 18856973 | 18856797 | 18856807 | Frame_Shift_Del | GGAGTCTTCAG | - | p.L2055fs |
| HNSC | TCGA-DQ-7591-01 | exon_skip_142534 | 18856751 | 18856973 | 18856797 | 18856807 | Frame_Shift_Del | GGAGTCTTCAG | - | p.LKTP2055fs |
| KIRP | TCGA-A4-8517-01 | exon_skip_142534 | 18856751 | 18856973 | 18856931 | 18856931 | Frame_Shift_Del | C | - | p.L2013fs |
| KIRP | TCGA-A4-8517-01 | exon_skip_142534 | 18856751 | 18856973 | 18856931 | 18856931 | Frame_Shift_Del | C | - | p.M2014X |
| STAD | TCGA-CD-A4MG-01 | exon_skip_142541 | 18890817 | 18891041 | 18890990 | 18890990 | Frame_Shift_Del | A | - | p.S449fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_142544 | 18895392 | 18895489 | 18895442 | 18895442 | Frame_Shift_Del | A | - | p.S357fs |
| HNSC | TCGA-CV-7568-01 | exon_skip_142521 | 18841541 | 18841691 | 18841660 | 18841660 | Nonsense_Mutation | G | A | p.Q2942* |
| BLCA | TCGA-DK-AA6P-01 | exon_skip_142530 | 18849679 | 18849788 | 18849689 | 18849689 | Nonsense_Mutation | G | T | p.S2395* |
| BLCA | TCGA-E7-A3Y1-01 | exon_skip_142530 | 18849679 | 18849788 | 18849753 | 18849753 | Nonsense_Mutation | G | A | p.R2374* |
| ESCA | TCGA-L5-A8NS-01 | exon_skip_142534 | 18856751 | 18856973 | 18856783 | 18856783 | Nonsense_Mutation | T | A | p.K2063* |
| ESCA | TCGA-L5-A8NS-01 | exon_skip_142534 | 18856751 | 18856973 | 18856783 | 18856783 | Nonsense_Mutation | T | A | p.K2063X |
| COAD | TCGA-CA-6718-01 | exon_skip_142534 | 18856751 | 18856973 | 18856972 | 18856972 | Nonsense_Mutation | C | A | p.E2000X |
| GBM | TCGA-06-6391-01 | exon_skip_142516 | 18830824 | 18830976 | 18830977 | 18830977 | Splice_Site | C | T | p.E3248_splice |
| - 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 |
| SNUC4_LARGE_INTESTINE | 18890817 | 18891041 | 18890990 | 18890990 | Frame_Shift_Del | A | - | p.S449fs |
| COLO783_SKIN | 18879512 | 18879676 | 18879659 | 18879660 | Frame_Shift_Ins | - | A | p.F1016fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 18826497 | 18826603 | 18826554 | 18826554 | Missense_Mutation | T | C | p.T3522A |
| HEC1_ENDOMETRIUM | 18830824 | 18830976 | 18830924 | 18830924 | Missense_Mutation | C | T | p.G3265D |
| PC9_LUNG | 18830824 | 18830976 | 18830967 | 18830967 | Missense_Mutation | C | G | p.A3251P |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18841248 | 18841437 | 18841322 | 18841322 | Missense_Mutation | A | G | p.I3020T |
| HEC265_ENDOMETRIUM | 18841541 | 18841691 | 18841658 | 18841658 | Missense_Mutation | T | A | p.Q2942H |
| SW684_SOFT_TISSUE | 18848575 | 18848765 | 18848597 | 18848597 | Missense_Mutation | G | A | p.P2528S |
| MDAMB231_BREAST | 18848575 | 18848765 | 18848711 | 18848711 | Missense_Mutation | C | T | p.G2490S |
| KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18848575 | 18848765 | 18848738 | 18848738 | Missense_Mutation | T | G | p.M2481L |
| NCIH1963_LUNG | 18849336 | 18849554 | 18849382 | 18849382 | Missense_Mutation | C | T | p.R2456Q |
| SNU1040_LARGE_INTESTINE | 18849336 | 18849554 | 18849448 | 18849448 | Missense_Mutation | G | A | p.A2434V |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18849336 | 18849554 | 18849481 | 18849481 | Missense_Mutation | A | G | p.V2423A |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18849336 | 18849554 | 18849491 | 18849491 | Missense_Mutation | C | T | p.D2420N |
| NCIH1666_LUNG | 18849679 | 18849788 | 18849684 | 18849684 | Missense_Mutation | C | T | p.E2397K |
| C33A_CERVIX | 18851020 | 18851268 | 18851024 | 18851024 | Missense_Mutation | G | A | p.T2314M |
| HEC1_ENDOMETRIUM | 18851020 | 18851268 | 18851027 | 18851027 | Missense_Mutation | A | G | p.V2313A |
| SKGIIIA_CERVIX | 18851020 | 18851268 | 18851133 | 18851133 | Missense_Mutation | G | C | p.H2278D |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 18851020 | 18851268 | 18851147 | 18851147 | Missense_Mutation | C | A | p.R2273L |
| NB13_AUTONOMIC_GANGLIA | 18851020 | 18851268 | 18851193 | 18851193 | Missense_Mutation | C | A | p.G2258C |
| MDAMB361_BREAST | 18851020 | 18851268 | 18851222 | 18851222 | Missense_Mutation | C | T | p.R2248H |
| DMS454_LUNG | 18856751 | 18856973 | 18856846 | 18856846 | Missense_Mutation | C | G | p.D2042H |
| SNU1040_LARGE_INTESTINE | 18856751 | 18856973 | 18856875 | 18856875 | Missense_Mutation | G | A | p.A2032V |
| NCIH1975_LUNG | 18856751 | 18856973 | 18856912 | 18856912 | Missense_Mutation | C | A | p.A2020S |
| CW2_LARGE_INTESTINE | 18856751 | 18856973 | 18856938 | 18856938 | Missense_Mutation | G | A | p.T2011I |
| CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18860539 | 18860700 | 18860550 | 18860550 | Missense_Mutation | G | A | p.S1871F |
| SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18860539 | 18860700 | 18860590 | 18860590 | Missense_Mutation | A | C | p.Y1858D |
| RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18860539 | 18860700 | 18860614 | 18860614 | Missense_Mutation | G | C | p.Q1850E |
| HEC6_ENDOMETRIUM | 18860539 | 18860700 | 18860691 | 18860691 | Missense_Mutation | G | A | p.P1824L |
| NCIH1155_LUNG | 18879512 | 18879676 | 18879585 | 18879585 | Missense_Mutation | G | A | p.A1041V |
| MDAMB415_BREAST | 18881176 | 18881316 | 18881186 | 18881186 | Missense_Mutation | G | C | p.H875D |
| HEC59_ENDOMETRIUM | 18881176 | 18881316 | 18881263 | 18881263 | Missense_Mutation | A | G | p.M849T |
| JHUEM7_ENDOMETRIUM | 18881176 | 18881316 | 18881289 | 18881289 | Missense_Mutation | T | G | p.E840D |
| PK1_PANCREAS | 18890817 | 18891041 | 18890969 | 18890969 | Missense_Mutation | C | A | p.A456S |
| SW48_LARGE_INTESTINE | 18890817 | 18891041 | 18890996 | 18890996 | Missense_Mutation | A | G | p.F447L |
| CCK81_LARGE_INTESTINE | 18895392 | 18895489 | 18895442 | 18895442 | Missense_Mutation | A | G | p.S357P |
| SKUT1_SOFT_TISSUE | 18895392 | 18895489 | 18895487 | 18895487 | Missense_Mutation | A | G | p.W342R |
| JHUEM7_ENDOMETRIUM | 18907374 | 18907529 | 18907394 | 18907394 | Missense_Mutation | T | C | p.K131R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 18907374 | 18907529 | 18907458 | 18907458 | Missense_Mutation | C | T | p.V110I |
| HT115_LARGE_INTESTINE | 18856751 | 18856973 | 18856972 | 18856972 | Splice_Site | C | T | p.E2000K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SMG1 |
| 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 |
| exon_skip_142548 | 16 | 18896862:18896988:18900693:18900907:18902184:18902243 | 18900693:18900907 | ENST00000565224.1,ENST00000532700.2,ENST00000565324.1,ENST00000446231.2,ENST00000389467.3,ENST00000561947.1 | KIRC | rs374052744 | chr16:18900862 | A/G | 1.49e-03 |
| exon_skip_142548 | 16 | 18896862:18896988:18900693:18900907:18902184:18902243 | 18900693:18900907 | ENST00000565224.1,ENST00000532700.2,ENST00000565324.1,ENST00000446231.2,ENST00000389467.3,ENST00000561947.1 | KIRC | rs374052744 | chr16:18900862 | A/G | 1.50e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SMG1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SMG1 |
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RelatedDrugs for SMG1 |
| 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 SMG1 |
| 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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