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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 IFT46 |
 Gene summary |
| Gene information | Gene symbol | IFT46 | Gene ID | 56912 |
| Gene name | intraflagellar transport 46 | |
| Synonyms | C11orf2|C11orf60|CFAP32 | |
| Cytomap | 11q23.3 | |
| Type of gene | protein-coding | |
| Description | intraflagellar transport protein 46 homologUPF0360cilia and flagella associated protein 32intraflagellar transport 46 homologintraflagellar transport protein IFT46 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A5F9ZH13, | |
| 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 IFT46 |
| 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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ENSG00000118096
| 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 IFT46 |
| 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_128089 | chr11 | 118559785:118559864:118564965:118565061:118565790:118565810 | 118564965:118565061 |
| exon_skip_142108 | chr11 | 118556994:118557045:118557738:118557890:118559785:118559832 | 118557738:118557890 |
| exon_skip_173714 | chr11 | 118556994:118557045:118557738:118557890:118559785:118559864 | 118557738:118557890 |
| exon_skip_181629 | chr11 | 118551786:118551852:118552214:118552335:118554459:118554587 | 118552214:118552335 |
| exon_skip_200486 | chr11 | 118544901:118545011:118545409:118545494:118545793:118545853 | 118545409:118545494 |
| exon_skip_204161 | chr11 | 118545409:118545494:118545793:118545853:118551786:118551852 | 118545793:118545853 |
| exon_skip_206054 | chr11 | 118560275:118560418:118564965:118565061:118565790:118565810 | 118564965:118565061 |
| exon_skip_233231 | chr11 | 118559785:118559864:118564965:118565091:118565790:118565810 | 118564965:118565091 |
| exon_skip_262038 | chr11 | 118555248:118555322:118556906:118557045:118559785:118559864 | 118556906:118557045 |
| exon_skip_46552 | chr11 | 118544592:118545011:118545409:118545494:118545793:118545853 | 118545409:118545494 |
| exon_skip_80876 | chr11 | 118564965:118565061:118565790:118565917:118572596:118572703 | 118565790:118565917 |
| exon_skip_91137 | chr11 | 118559785:118559864:118564965:118565061:118572596:118572703 | 118564965:118565061 |
| 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 IFT46 |
| 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 |
| ENST00000264021 | 118564965 | 118565061 | 3UTR-3UTR |
| ENST00000264021 | 118545409 | 118545494 | Frame-shift |
| ENST00000264021 | 118556906 | 118557045 | 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 |
| ENST00000264021 | 118564965 | 118565061 | 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 |
| ENST00000264021 | 118564965 | 118565061 | 3UTR-3UTR |
| ENST00000264021 | 118545409 | 118545494 | Frame-shift |
| ENST00000264021 | 118545793 | 118545853 | Frame-shift |
| ENST00000264021 | 118552214 | 118552335 | Frame-shift |
| ENST00000264021 | 118556906 | 118557045 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for IFT46 |
p-ENSG00000118096_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 IFT46 |
| 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 | ENST00000264021 | 118564965 | 118565061 | hsa-miR-4671-5p | chr11:118565003-118565010 | 8mer-1a | chr11:118564989-118565010 | 148.00 | -16.42 |
| Mayo | ENST00000264021 | 118564965 | 118565061 | hsa-miR-1272 | chr11:118565030-118565037 | 8mer-1a | chr11:118565022-118565041 | 157.00 | -14.55 |
| Mayo | ENST00000264021 | 118564965 | 118565061 | hsa-miR-3145-5p | chr11:118564980-118564987 | 8mer-1a | chr11:118564968-118564987 | 155.00 | -17.68 |
| Mayo | ENST00000264021 | 118564965 | 118565061 | hsa-miR-653-5p | chr11:118565047-118565054 | 8mer-1a | chr11:118565039-118565059 | 141.00 | -20.03 |
| MSBB | ENST00000264021 | 118564965 | 118565061 | hsa-miR-4671-5p | chr11:118565003-118565010 | 8mer-1a | chr11:118564989-118565010 | 148.00 | -16.42 |
| MSBB | ENST00000264021 | 118564965 | 118565061 | hsa-miR-1272 | chr11:118565030-118565037 | 8mer-1a | chr11:118565022-118565041 | 157.00 | -14.55 |
| MSBB | ENST00000264021 | 118564965 | 118565061 | hsa-miR-3145-5p | chr11:118564980-118564987 | 8mer-1a | chr11:118564968-118564987 | 155.00 | -17.68 |
| MSBB | ENST00000264021 | 118564965 | 118565061 | hsa-miR-653-5p | chr11:118565047-118565054 | 8mer-1a | chr11:118565039-118565059 | 141.00 | -20.03 |
| ROSMAP | ENST00000264021 | 118564965 | 118565061 | hsa-miR-4671-5p | chr11:118565003-118565010 | 8mer-1a | chr11:118564989-118565010 | 148.00 | -16.42 |
| ROSMAP | ENST00000264021 | 118564965 | 118565061 | hsa-miR-1272 | chr11:118565030-118565037 | 8mer-1a | chr11:118565022-118565041 | 157.00 | -14.55 |
| ROSMAP | ENST00000264021 | 118564965 | 118565061 | hsa-miR-3145-5p | chr11:118564980-118564987 | 8mer-1a | chr11:118564968-118564987 | 155.00 | -17.68 |
| ROSMAP | ENST00000264021 | 118564965 | 118565061 | hsa-miR-653-5p | chr11:118565047-118565054 | 8mer-1a | chr11:118565039-118565059 | 141.00 | -20.03 |
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SNVs in the skipped exons for IFT46 |
| - 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 IFT46 |
| 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 IFT46 |
| 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 IFT46 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP4 | exon_skip_142108 | 4.966115e-01 | 2.784665e-11 |
| CB | RBM4 | exon_skip_142108 | -5.146782e-01 | 3.917176e-12 |
| CB | ZNF638 | exon_skip_128089 | -4.986075e-01 | 3.494086e-11 |
| CB | CNOT4 | exon_skip_128089 | -4.719677e-01 | 4.981477e-10 |
| IFG | SFPQ | exon_skip_173714 | 4.022513e-01 | 3.383425e-02 |
| IFG | ILF2 | exon_skip_173714 | -4.376473e-01 | 1.985405e-02 |
| IFG | HNRNPH2 | exon_skip_173714 | -4.442325e-01 | 1.787170e-02 |
| IFG | ESRP1 | exon_skip_173714 | -4.621422e-01 | 1.328942e-02 |
| PCC | ILF2 | exon_skip_173714 | -4.109836e-01 | 5.786951e-10 |
| PCC | SRSF9 | exon_skip_173714 | -4.343948e-01 | 4.476705e-11 |
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RelatedDrugs for IFT46 |
| 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 IFT46 |
| 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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