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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 KIAA1217 |
 Gene summary |
| Gene information | Gene symbol | KIAA1217 | Gene ID | 56243 |
| Gene name | KIAA1217 | |
| Synonyms | ETL4|SKT | |
| Cytomap | 10p12.2-p12.1 | |
| Type of gene | protein-coding | |
| Description | sickle tail protein homologlikely orthologue of Mus musculus enhancer trap locus 4 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| 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 KIAA1217 |
| 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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ENSG00000120549
| 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 | ENST00000376454.8 | KIAA1217-204:protein_coding:KIAA1217 | 1.512625e+01 | 6.951249e+00 | 2.890913e-08 | 2.890385e-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 KIAA1217 |
| 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_134769 | chr10 | 24219626:24219909:24367119:24367168:24380869:24381067 | 24367119:24367168 |
| exon_skip_14007 | chr10 | 24524323:24524764:24527936:24528119:24531830:24531944 | 24527936:24528119 |
| exon_skip_17387 | chr10 | 24533212:24533237:24536774:24536893:24542693:24542770 | 24536774:24536893 |
| exon_skip_178278 | chr10 | 24524323:24524764:24527936:24528119:24531833:24531993 | 24527936:24528119 |
| exon_skip_232308 | chr10 | 24536774:24536893:24542693:24542770:24544981:24545103 | 24542693:24542770 |
| exon_skip_249974 | chr10 | 24536774:24536893:24542507:24542542:24542693:24542770 | 24542507:24542542 |
| exon_skip_260739 | chr10 | 24533212:24533237:24536774:24536893:24544981:24545103 | 24536774:24536893 |
| exon_skip_284604 | chr10 | 24524323:24524764:24527936:24528119:24531830:24531993 | 24527936:24528119 |
| exon_skip_286680 | chr10 | 24473228:24474060:24494500:24494604:24495147:24495196 | 24494500:24494604 |
| exon_skip_291234 | chr10 | 24542693:24542770:24542883:24544481:24544981:24545103 | 24542883:24544481 |
| 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 KIAA1217 |
| 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 |
| ENST00000376454 | 24527936 | 24528119 | Frame-shift |
| ENST00000376454 | 24494500 | 24494604 | In-frame |
| ENST00000376454 | 24536774 | 24536893 | In-frame |
| ENST00000376454 | 24542883 | 24544481 | 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 |
| ENST00000376454 | 24494500 | 24494604 | In-frame |
| ENST00000376454 | 24536774 | 24536893 | 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 |
| ENST00000376454 | 24527936 | 24528119 | Frame-shift |
| ENST00000376454 | 24494500 | 24494604 | In-frame |
| ENST00000376454 | 24536774 | 24536893 | In-frame |
| ENST00000376454 | 24542883 | 24544481 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KIAA1217 |
p-ENSG00000120549_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 |
| ENST00000376454 | 7398 | 1943 | 24494500 | 24494604 | 1711 | 1814 | 560 | 594 |
| ENST00000376454 | 7398 | 1943 | 24536774 | 24536893 | 3446 | 3564 | 1138 | 1178 |
| ENST00000376454 | 7398 | 1943 | 24542883 | 24544481 | 3644 | 5241 | 1204 | 1737 |
| 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 |
| ENST00000376454 | 7398 | 1943 | 24494500 | 24494604 | 1711 | 1814 | 560 | 594 |
| ENST00000376454 | 7398 | 1943 | 24536774 | 24536893 | 3446 | 3564 | 1138 | 1178 |
| 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 |
| ENST00000376454 | 7398 | 1943 | 24494500 | 24494604 | 1711 | 1814 | 560 | 594 |
| ENST00000376454 | 7398 | 1943 | 24536774 | 24536893 | 3446 | 3564 | 1138 | 1178 |
| ENST00000376454 | 7398 | 1943 | 24542883 | 24544481 | 3644 | 5241 | 1204 | 1737 |
| 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 |
| Q5T5P2 | 560 | 594 | 560 | 594 | Alternative sequence | ID=VSP_052428;Note=In isoform 3%2C isoform 4%2C isoform 5%2C isoform 6%2C isoform 7 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:1 |
| Q5T5P2 | 560 | 594 | 1 | 1943 | Chain | ID=PRO_0000287897;Note=Sickle tail protein homolog |
| Q5T5P2 | 560 | 594 | 557 | 581 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T5P2 | 1138 | 1178 | 1139 | 1737 | Alternative sequence | ID=VSP_052429;Note=In isoform 2%2C isoform 4 and isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574462,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10574462,PMID:15489334,PMID:1797 |
| Q5T5P2 | 1138 | 1178 | 1 | 1943 | Chain | ID=PRO_0000287897;Note=Sickle tail protein homolog |
| Q5T5P2 | 1204 | 1737 | 1139 | 1737 | Alternative sequence | ID=VSP_052429;Note=In isoform 2%2C isoform 4 and isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574462,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10574462,PMID:15489334,PMID:1797 |
| Q5T5P2 | 1204 | 1737 | 1179 | 1737 | Alternative sequence | ID=VSP_030353;Note=In isoform 5 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.7;Dbxref=PMID:17974005 |
| Q5T5P2 | 1204 | 1737 | 1205 | 1737 | Alternative sequence | ID=VSP_052430;Note=In isoform 6 and isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5T5P2 | 1204 | 1737 | 1 | 1943 | Chain | ID=PRO_0000287897;Note=Sickle tail protein homolog |
| Q5T5P2 | 1204 | 1737 | 1464 | 1490 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T5P2 | 1204 | 1737 | 1656 | 1686 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T5P2 | 1204 | 1737 | 1461 | 1461 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2AQ25 |
| Q5T5P2 | 1204 | 1737 | 1362 | 1362 | Natural variant | ID=VAR_051360;Note=P->A;Dbxref=dbSNP:rs16924863 |
| Q5T5P2 | 1204 | 1737 | 1267 | 1267 | Sequence conflict | Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5T5P2 | 1204 | 1737 | 1306 | 1306 | Sequence conflict | Note=T->A;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 |
| Q5T5P2 | 560 | 594 | 560 | 594 | Alternative sequence | ID=VSP_052428;Note=In isoform 3%2C isoform 4%2C isoform 5%2C isoform 6%2C isoform 7 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:1 |
| Q5T5P2 | 560 | 594 | 1 | 1943 | Chain | ID=PRO_0000287897;Note=Sickle tail protein homolog |
| Q5T5P2 | 560 | 594 | 557 | 581 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T5P2 | 1138 | 1178 | 1139 | 1737 | Alternative sequence | ID=VSP_052429;Note=In isoform 2%2C isoform 4 and isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574462,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10574462,PMID:15489334,PMID:1797 |
| Q5T5P2 | 1138 | 1178 | 1 | 1943 | Chain | ID=PRO_0000287897;Note=Sickle tail protein homolog |
| 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 |
| Q5T5P2 | 560 | 594 | 560 | 594 | Alternative sequence | ID=VSP_052428;Note=In isoform 3%2C isoform 4%2C isoform 5%2C isoform 6%2C isoform 7 and isoform 10. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:1 |
| Q5T5P2 | 560 | 594 | 1 | 1943 | Chain | ID=PRO_0000287897;Note=Sickle tail protein homolog |
| Q5T5P2 | 560 | 594 | 557 | 581 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T5P2 | 1138 | 1178 | 1139 | 1737 | Alternative sequence | ID=VSP_052429;Note=In isoform 2%2C isoform 4 and isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574462,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10574462,PMID:15489334,PMID:1797 |
| Q5T5P2 | 1138 | 1178 | 1 | 1943 | Chain | ID=PRO_0000287897;Note=Sickle tail protein homolog |
| Q5T5P2 | 1204 | 1737 | 1139 | 1737 | Alternative sequence | ID=VSP_052429;Note=In isoform 2%2C isoform 4 and isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574462,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:10574462,PMID:15489334,PMID:1797 |
| Q5T5P2 | 1204 | 1737 | 1179 | 1737 | Alternative sequence | ID=VSP_030353;Note=In isoform 5 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.7;Dbxref=PMID:17974005 |
| Q5T5P2 | 1204 | 1737 | 1205 | 1737 | Alternative sequence | ID=VSP_052430;Note=In isoform 6 and isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5T5P2 | 1204 | 1737 | 1 | 1943 | Chain | ID=PRO_0000287897;Note=Sickle tail protein homolog |
| Q5T5P2 | 1204 | 1737 | 1464 | 1490 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T5P2 | 1204 | 1737 | 1656 | 1686 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T5P2 | 1204 | 1737 | 1461 | 1461 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2AQ25 |
| Q5T5P2 | 1204 | 1737 | 1362 | 1362 | Natural variant | ID=VAR_051360;Note=P->A;Dbxref=dbSNP:rs16924863 |
| Q5T5P2 | 1204 | 1737 | 1267 | 1267 | Sequence conflict | Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5T5P2 | 1204 | 1737 | 1306 | 1306 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in KIAA1217 |
| 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 KIAA1217 |
| - 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 KIAA1217 |
| 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 KIAA1217 |
| 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 KIAA1217 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | KHDRBS2 | exon_skip_286680 | 5.895560e-01 | 3.788107e-13 |
| CB | CPEB1 | exon_skip_286680 | 4.422163e-01 | 2.169186e-07 |
| CB | SRSF9 | exon_skip_286680 | 4.102390e-01 | 1.835444e-06 |
| CB | SART3 | exon_skip_286680 | 4.229242e-01 | 8.075871e-07 |
| CB | KHSRP | exon_skip_260739 | -4.152648e-01 | 1.468790e-06 |
| IFG | HNRNPL | exon_skip_286680 | 5.698154e-01 | 4.533474e-03 |
| TC | RALYL | exon_skip_260739 | -4.014735e-01 | 6.033479e-06 |
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RelatedDrugs for KIAA1217 |
| 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 KIAA1217 |
| 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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