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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 KNSTRN |
 Gene summary |
| Gene information | Gene symbol | KNSTRN | Gene ID | 90417 |
| Gene name | kinetochore localized astrin (SPAG5) binding protein | |
| Synonyms | C15orf23|HSD11|SKAP|TRAF4AF1 | |
| Cytomap | 15q15.1 | |
| Type of gene | protein-coding | |
| Description | small kinetochore-associated proteinTRAF4 associated factor 1kinastrinkinetochore-localized astrin-binding proteinputative TRAF4-associated factor 1small kinetochore associated proteinsmall kinetochore-associated protein, kinetochore-localized astri | |
| Modification date | 20200313 | |
| UniProtAcc | H0YKD4, | |
| Context |
| 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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Gene structures and expression levels for KNSTRN |
| 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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ENSG00000128944
| 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 |
| CB | UP | ENST00000448395.6 | KNSTRN-203:protein_coding:KNSTRN | 6.904487e+01 | 8.552048e-01 | 9.021942e-06 | 9.672934e-05 |
| 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 KNSTRN |
| 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_148067 | chr15 | 40383255:40383322:40386362:40386494:40387159:40387206 | 40386362:40386494 |
| exon_skip_154878 | chr15 | 40389836:40389929:40391493:40391554:40391949:40392023 | 40391493:40391554 |
| exon_skip_160937 | chr15 | 40387159:40387206:40389166:40389291:40389506:40389611 | 40389166:40389291 |
| exon_skip_256670 | chr15 | 40383228:40383322:40384457:40384519:40386362:40386494 | 40384457:40384519 |
| exon_skip_68378 | chr15 | 40383255:40383322:40384457:40384519:40386362:40386494 | 40384457:40384519 |
| exon_skip_86839 | chr15 | 40383255:40383322:40386405:40386494:40387159:40387206 | 40386405:40386494 |
| 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_154878 | Mayo_CB | 6.803659e-01 | 8.197403e-01 | -1.393744e-01 | 1.139528e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for KNSTRN |
| 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 |
| ENST00000249776 | 40386362 | 40386494 | Frame-shift |
| ENST00000249776 | 40391493 | 40391554 | 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 |
| ENST00000249776 | 40391493 | 40391554 | 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 |
| ENST00000249776 | 40386362 | 40386494 | Frame-shift |
| ENST00000249776 | 40391493 | 40391554 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for KNSTRN |
p-ENSG00000128944_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 KNSTRN |
| 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 KNSTRN |
| - 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 KNSTRN |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KNSTRN |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_154878 | rs7165012 | chr15:40361837 | 6.836524e-05 | 6.624055e-03 |
| HCC | exon_skip_154878 | rs17672041 | chr15:40430227 | 3.979018e-04 | 2.827894e-02 |
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Correlation with RNA binding proteins (RBPs) for KNSTRN |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_181279 | -4.314910e-01 | 4.859445e-08 |
| CB | ZNF638 | exon_skip_181279 | -4.296901e-01 | 5.600589e-08 |
| CB | CNOT4 | exon_skip_181279 | -4.588337e-01 | 5.073336e-09 |
| CB | PCBP4 | exon_skip_181279 | 4.653369e-01 | 2.876843e-09 |
| CB | TRA2A | exon_skip_181279 | -5.199097e-01 | 1.494987e-11 |
| CB | FUBP1 | exon_skip_181279 | -4.079361e-01 | 2.918616e-07 |
| CB | HNRNPA2B1 | exon_skip_181279 | -4.256682e-01 | 7.666835e-08 |
| CB | RBM45 | exon_skip_181279 | 4.022355e-01 | 4.413853e-07 |
| CB | RBM4B | exon_skip_181279 | -4.487266e-01 | 1.197089e-08 |
| CB | RBM45 | exon_skip_154878 | 5.410463e-01 | 1.803369e-13 |
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RelatedDrugs for KNSTRN |
| 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 KNSTRN |
| 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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