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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 IFT20 |
 Gene summary |
| Gene information | Gene symbol | IFT20 | Gene ID | 90410 |
| Gene name | intraflagellar transport 20 | |
| Synonyms | - | |
| Cytomap | 17q11.2 | |
| Type of gene | protein-coding | |
| Description | intraflagellar transport protein 20 homologintraflagellar transport 20 homologintraflagellar transport protein IFT20 | |
| Modification date | 20200327 | |
| 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 IFT20 |
| 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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ENSG00000109083
| 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 | DOWN | ENST00000578009.5 | IFT20-205:protein_coding:IFT20 | 3.294770e+01 | -7.985025e+00 | 3.164019e-08 | 8.004832e-07 |
| TC | DOWN | ENST00000578009.5 | IFT20-205:protein_coding:IFT20 | 3.275721e+00 | -4.415543e+00 | 6.281611e-03 | 3.969283e-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 IFT20 |
| 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_142183 | chr17 | 28329173:28329276:28330111:28330228:28330443:28330528 | 28330111:28330228 |
| exon_skip_164226 | chr17 | 28331859:28331987:28332146:28332181:28335340:28335435 | 28332146:28332181 |
| exon_skip_16466 | chr17 | 28328697:28328733:28329173:28329276:28330443:28330528 | 28329173:28329276 |
| exon_skip_190106 | chr17 | 28332146:28332382:28332690:28332723:28335340:28335435 | 28332690:28332723 |
| exon_skip_271862 | chr17 | 28328327:28328733:28329173:28329276:28330443:28330528 | 28329173:28329276 |
| exon_skip_62848 | chr17 | 28331859:28331987:28332146:28332382:28335340:28335435 | 28332146:28332382 |
| exon_skip_7540 | chr17 | 28331859:28331987:28332146:28332181:28335340:28335439 | 28332146:28332181 |
| exon_skip_77933 | chr17 | 28328337:28328733:28329173:28329276:28330443:28330528 | 28329173:28329276 |
| 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 IFT20 |
| 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 |
| ENST00000585313 | 28332146 | 28332181 | 3UTR-3UTR |
| ENST00000395418 | 28329173 | 28329276 | Frame-shift |
| ENST00000585313 | 28329173 | 28329276 | 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 |
| ENST00000585313 | 28332146 | 28332181 | 3UTR-3UTR |
| 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 |
| ENST00000585313 | 28332146 | 28332181 | 3UTR-3UTR |
| ENST00000395418 | 28329173 | 28329276 | Frame-shift |
| ENST00000585313 | 28329173 | 28329276 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for IFT20 |
p-ENSG00000109083_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 IFT20 |
| 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 |
| Mayo | ENST00000585313 | 28332146 | 28332181 | hsa-miR-6750-5p | chr17:28332161-28332168 | 8mer-1a | chr17:28332147-28332168 | 160.00 | -22.13 |
| Mayo | ENST00000585313 | 28332146 | 28332181 | hsa-miR-6822-5p | chr17:28332161-28332168 | 8mer-1a | chr17:28332147-28332168 | 160.00 | -22.13 |
| MSBB | ENST00000585313 | 28332146 | 28332181 | hsa-miR-6750-5p | chr17:28332161-28332168 | 8mer-1a | chr17:28332147-28332168 | 160.00 | -22.13 |
| MSBB | ENST00000585313 | 28332146 | 28332181 | hsa-miR-6822-5p | chr17:28332161-28332168 | 8mer-1a | chr17:28332147-28332168 | 160.00 | -22.13 |
| ROSMAP | ENST00000585313 | 28332146 | 28332181 | hsa-miR-6750-5p | chr17:28332161-28332168 | 8mer-1a | chr17:28332147-28332168 | 160.00 | -22.13 |
| ROSMAP | ENST00000585313 | 28332146 | 28332181 | hsa-miR-6822-5p | chr17:28332161-28332168 | 8mer-1a | chr17:28332147-28332168 | 160.00 | -22.13 |
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SNVs in the skipped exons for IFT20 |
| - 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 IFT20 |
| 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 IFT20 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| TC | exon_skip_62848 | rs2071379 | chr17:28368811 | 1.274347e-04 | 1.986129e-02 |
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Correlation with RNA binding proteins (RBPs) for IFT20 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | ELAVL4 | exon_skip_62848 | 4.828272e-01 | 6.570922e-21 |
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RelatedDrugs for IFT20 |
| 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 IFT20 |
| 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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