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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for SUGT1 |
 Gene summary |
| Gene information | Gene symbol | SUGT1 | Gene ID | 10910 |
| Gene name | SGT1 homolog, MIS12 kinetochore complex assembly cochaperone | |
| Synonyms | SGT1 | |
| Cytomap | 13q14.3 | |
| Type of gene | protein-coding | |
| Description | protein SGT1 homologSGT1, suppressor of G2 allele of SKP1putative 40-6-3 proteinsuppressor of G2 allele of SKP1, S. cerevisiae, homolog of | |
| Modification date | 20200313 | |
| UniProtAcc | Q9Y2Z0, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| SUGT1 | GO:0031647 | regulation of protein stability | 23935490 |
| SUGT1 | GO:0043947 | positive regulation by host of symbiont catalytic activity | 23935490 |
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Gene structures and expression levels for SUGT1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000165416
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SUGT1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_106855 | chr13 | 52659180:52659249:52661475:52661570:52662649:52662702 | 52661475:52661570 |
| exon_skip_111468 | chr13 | 52653046:52653103:52657532:52657622:52658399:52658468 | 52657532:52657622 |
| exon_skip_145206 | chr13 | 52666812:52666919:52676230:52676320:52679974:52680155 | 52676230:52676320 |
| exon_skip_145553 | chr13 | 52676230:52676320:52679974:52680155:52687734:52687872 | 52679974:52680155 |
| exon_skip_200679 | chr13 | 52659179:52659249:52661475:52661570:52662649:52662702 | 52661475:52661570 |
| exon_skip_244410 | chr13 | 52652866:52652958:52653046:52653103:52657532:52657619 | 52653046:52653103 |
| exon_skip_261347 | chr13 | 52659179:52659249:52662649:52662702:52663096:52663112 | 52662649:52662702 |
| exon_skip_271466 | chr13 | 52652866:52652958:52653046:52653103:52657532:52657622 | 52653046:52653103 |
| exon_skip_34772 | chr13 | 52659220:52659249:52661475:52661570:52662649:52662702 | 52661475:52661570 |
| exon_skip_58785 | chr13 | 52657532:52657622:52658099:52658226:52658399:52658468 | 52658099:52658226 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for SUGT1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000343788 | 52653046 | 52653103 | Frame-shift |
| ENST00000343788 | 52679974 | 52680155 | Frame-shift |
| ENST00000343788 | 52661475 | 52661570 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000343788 | 52653046 | 52653103 | Frame-shift |
| ENST00000343788 | 52679974 | 52680155 | Frame-shift |
| ENST00000343788 | 52661475 | 52661570 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000343788 | 52653046 | 52653103 | Frame-shift |
| ENST00000343788 | 52657532 | 52657622 | Frame-shift |
| ENST00000343788 | 52676230 | 52676320 | Frame-shift |
| ENST00000343788 | 52679974 | 52680155 | Frame-shift |
| ENST00000343788 | 52661475 | 52661570 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SUGT1 |
p-ENSG00000165416_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000343788 | 1234 | 365 | 52661475 | 52661570 | 412 | 506 | 110 | 141 |
| Loci of skipped exons in MSBB 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 |
| ENST00000343788 | 1234 | 365 | 52661475 | 52661570 | 412 | 506 | 110 | 141 |
| Loci of skipped exons in Mayo 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 |
| ENST00000343788 | 1234 | 365 | 52661475 | 52661570 | 412 | 506 | 110 | 141 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q9Y2Z0 | 110 | 141 | 110 | 142 | Alternative sequence | ID=VSP_013420;Note=In isoform 2. IETGFHRVGQAGLQLLTSSDPPALDSQSAGITG->S;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10445024,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.4,ECO:0000303|Ref.5;Dbxref=PMID:10445024,P |
| Q9Y2Z0 | 110 | 141 | 2 | 365 | Chain | ID=PRO_0000106332;Note=Protein SGT1 homolog |
| Q9Y2Z0 | 110 | 141 | 79 | 112 | Repeat | Note=TPR 3 |
| Q9Y2Z0 | 110 | 141 | 120 | 120 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q9Y2Z0 | 110 | 141 | 110 | 142 | Alternative sequence | ID=VSP_013420;Note=In isoform 2. IETGFHRVGQAGLQLLTSSDPPALDSQSAGITG->S;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10445024,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.4,ECO:0000303|Ref.5;Dbxref=PMID:10445024,P |
| Q9Y2Z0 | 110 | 141 | 2 | 365 | Chain | ID=PRO_0000106332;Note=Protein SGT1 homolog |
| Q9Y2Z0 | 110 | 141 | 79 | 112 | Repeat | Note=TPR 3 |
| Q9Y2Z0 | 110 | 141 | 120 | 120 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q9Y2Z0 | 110 | 141 | 110 | 142 | Alternative sequence | ID=VSP_013420;Note=In isoform 2. IETGFHRVGQAGLQLLTSSDPPALDSQSAGITG->S;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10445024,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.4,ECO:0000303|Ref.5;Dbxref=PMID:10445024,P |
| Q9Y2Z0 | 110 | 141 | 2 | 365 | Chain | ID=PRO_0000106332;Note=Protein SGT1 homolog |
| Q9Y2Z0 | 110 | 141 | 79 | 112 | Repeat | Note=TPR 3 |
| Q9Y2Z0 | 110 | 141 | 120 | 120 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SUGT1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for SUGT1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for SUGT1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| ADstage | MSBB | IFG | exon_skip_145553 | -4.075232e-01 | 3.135595e-02 | chr13 | + | 52676230 | 52676320 | 52679974 | 52680155 | 52687734 | 52687872 |
| CDR | MSBB | IFG | exon_skip_145553 | -4.921703e-01 | 7.804987e-03 | chr13 | + | 52676230 | 52676320 | 52679974 | 52680155 | 52687734 | 52687872 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SUGT1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for SUGT1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | ILF2 | exon_skip_200679 | -4.218911e-01 | 2.533715e-02 |
| IFG | HNRNPK | exon_skip_200679 | -4.079013e-01 | 3.118402e-02 |
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RelatedDrugs for SUGT1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SUGT1 |
| 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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