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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 SHTN1 |
 Gene summary |
| Gene information | Gene symbol | SHTN1 | Gene ID | 57698 |
| Gene name | shootin 1 | |
| Synonyms | KIAA1598|shootin-1 | |
| Cytomap | 10q25.3 | |
| Type of gene | protein-coding | |
| Description | shootin-1shootin1 | |
| Modification date | 20200313 | |
| UniProtAcc | A0MZ66, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| SHTN1 | GO:2001224 | positive regulation of neuron migration | 23864681 |
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Gene structures and expression levels for SHTN1 |
| 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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ENSG00000187164
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000392903.3 | SHTN1-204:protein_coding:SHTN1 | 1.661262e+02 | 8.684290e-01 | 6.020597e-04 | 2.974197e-02 |
| 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 SHTN1 |
| 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_101742 | chr10 | 116884797:116886566:116911790:116911843:116915375:116915484 | 116911790:116911843 |
| exon_skip_149041 | chr10 | 116968652:116968712:116979256:116979308:117005022:117005187 | 116979256:116979308 |
| exon_skip_160979 | chr10 | 116960136:116960230:116968652:116968712:116979256:116979308 | 116968652:116968712 |
| exon_skip_220912 | chr10 | 116960136:116960230:116968652:116968712:117005022:117005187 | 116968652:116968712 |
| exon_skip_232388 | chr10 | 116960136:116960230:116968652:116968712:116979256:116979302 | 116968652:116968712 |
| exon_skip_239429 | chr10 | 116954049:116954210:116960136:116960230:116968652:116968712 | 116960136:116960230 |
| exon_skip_240669 | chr10 | 116884797:116886566:116901765:116901957:116906627:116906747 | 116901765:116901957 |
| exon_skip_241517 | chr10 | 116954049:116954210:116960136:116960230:116968652:116968710 | 116960136:116960230 |
| exon_skip_251262 | chr10 | 116927792:116927891:116929849:116930002:116940466:116940485 | 116929849:116930002 |
| exon_skip_255286 | chr10 | 116968652:116968712:116979256:116979308:117005022:117005071 | 116979256:116979308 |
| exon_skip_25858 | chr10 | 116901765:116901957:116906627:116906747:116911790:116911843 | 116906627:116906747 |
| exon_skip_271334 | chr10 | 116911790:116911843:116915375:116915484:116921434:116921516 | 116915375:116915484 |
| exon_skip_288067 | chr10 | 116940466:116940612:116944924:116945018:116948916:116948997 | 116944924:116945018 |
| exon_skip_52106 | chr10 | 116901776:116901957:116906627:116906747:116911790:116911843 | 116906627:116906747 |
| exon_skip_55165 | chr10 | 116927792:116927891:116929849:116930002:116940466:116940612 | 116929849:116930002 |
| exon_skip_83864 | chr10 | 116921434:116921516:116927792:116927891:116929849:116930002 | 116927792:116927891 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_187778 | MSBB_PG | 2.795364e-01 | 1.729310e-01 | 1.066054e-01 | 4.453904e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for SHTN1 |
| 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 |
| ENST00000355371 | 116906627 | 116906747 | Frame-shift |
| ENST00000355371 | 116927792 | 116927891 | Frame-shift |
| ENST00000355371 | 116929849 | 116930002 | Frame-shift |
| ENST00000355371 | 116960136 | 116960230 | Frame-shift |
| ENST00000355371 | 116968652 | 116968712 | Frame-shift |
| 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 |
| ENST00000355371 | 116906627 | 116906747 | Frame-shift |
| ENST00000355371 | 116915375 | 116915484 | Frame-shift |
| ENST00000355371 | 116927792 | 116927891 | Frame-shift |
| ENST00000355371 | 116929849 | 116930002 | Frame-shift |
| ENST00000355371 | 116960136 | 116960230 | Frame-shift |
| ENST00000355371 | 116968652 | 116968712 | Frame-shift |
| 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 |
| ENST00000355371 | 116901765 | 116901957 | Frame-shift |
| ENST00000355371 | 116906627 | 116906747 | Frame-shift |
| ENST00000355371 | 116915375 | 116915484 | Frame-shift |
| ENST00000355371 | 116927792 | 116927891 | Frame-shift |
| ENST00000355371 | 116929849 | 116930002 | Frame-shift |
| ENST00000355371 | 116944924 | 116945018 | Frame-shift |
| ENST00000355371 | 116960136 | 116960230 | Frame-shift |
| ENST00000355371 | 116968652 | 116968712 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SHTN1 |
p-ENSG00000187164_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SHTN1 |
| 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 SHTN1 |
| - 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 SHTN1 |
| 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_286485 | 4.139143e-01 | 2.855013e-02 | chr10 | - | 116911790 | 116911843 | 116913409 | 116913485 | 116915375 | 116915484 |
| ADstage | MSBB | PG | exon_skip_187778 | 4.481216e-01 | 1.020000e-11 | chr10 | - | 116884797 | 116886566 | 116901765 | 116906747 | 116911790 | 116911843 |
| ADstage | ROSMAP | PCC | exon_skip_187778 | 3.947763e-01 | 1.970000e-09 | chr10 | - | 116884797 | 116886566 | 116901765 | 116906747 | 116911790 | 116911843 |
| CDR | MSBB | PG | exon_skip_187778 | 4.891396e-01 | 5.700000e-14 | chr10 | - | 116884797 | 116886566 | 116901765 | 116906747 | 116911790 | 116911843 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SHTN1 |
| 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 SHTN1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_187778 | 4.096436e-01 | 8.237814e-08 |
| FL | HNRNPA0 | exon_skip_187778 | -4.334624e-01 | 1.985277e-10 |
| PCC | MSI1 | exon_skip_187778 | 4.248174e-01 | 7.851797e-11 |
| PG | KHDRBS3 | exon_skip_187778 | -4.243713e-01 | 1.518552e-10 |
| PG | HNRNPA0 | exon_skip_187778 | -4.447873e-01 | 1.508252e-11 |
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RelatedDrugs for SHTN1 |
| 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 SHTN1 |
| 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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