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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 HOOK3 |
 Gene summary |
| Gene information | Gene symbol | HOOK3 | Gene ID | 84376 |
| Gene name | hook microtubule tethering protein 3 | |
| Synonyms | HK3 | |
| Cytomap | 8p11.21 | |
| Type of gene | protein-coding | |
| Description | protein Hook homolog 3h-hook3hHK3hook homolog 3 | |
| 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 HOOK3 |
| 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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ENSG00000168172
| 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 HOOK3 |
| 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_122868 | chr8 | 43002107:43002141:43007847:43007929:43010305:43010348 | 43007847:43007929 |
| exon_skip_129060 | chr8 | 42925557:42925629:42930122:42930172:42943313:42943445 | 42930122:42930172 |
| exon_skip_129248 | chr8 | 42943313:42943445:42950388:42950455:42957094:42957156 | 42950388:42950455 |
| exon_skip_134051 | chr8 | 42986655:42986795:42997550:42997637:43002107:43002141 | 42997550:42997637 |
| exon_skip_143022 | chr8 | 42997590:42997637:43002107:43002141:43007847:43007929 | 43002107:43002141 |
| exon_skip_144669 | chr8 | 42896978:42897188:42906173:42906258:42925557:42925629 | 42906173:42906258 |
| exon_skip_169204 | chr8 | 42986655:42986795:42994434:42994492:42997550:42997637 | 42994434:42994492 |
| exon_skip_170505 | chr8 | 42906173:42906258:42925557:42925629:42930122:42930172 | 42925557:42925629 |
| exon_skip_19036 | chr8 | 43000271:43000276:43002107:43002141:43007847:43007929 | 43002107:43002141 |
| exon_skip_55811 | chr8 | 42997590:42997637:43000271:43000276:43002107:43002141 | 43000271:43000276 |
| exon_skip_59490 | chr8 | 42966473:42966613:42968013:42968214:42973289:42973399 | 42968013:42968214 |
| exon_skip_59965 | chr8 | 42959231:42959314:42964311:42964474:42966473:42966613 | 42964311:42964474 |
| exon_skip_84259 | chr8 | 42982627:42982696:42986655:42986795:42997550:42997637 | 42986655:42986795 |
| 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_55811 | Mayo_TC | 5.576829e-01 | 7.080952e-01 | -1.504123e-01 | 5.340071e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for HOOK3 |
| 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 |
| ENST00000307602 | 42906173 | 42906258 | Frame-shift |
| ENST00000307602 | 42950388 | 42950455 | Frame-shift |
| ENST00000307602 | 42964311 | 42964474 | Frame-shift |
| ENST00000307602 | 42968013 | 42968214 | Frame-shift |
| ENST00000307602 | 42997550 | 42997637 | Frame-shift |
| ENST00000307602 | 43002107 | 43002141 | Frame-shift |
| ENST00000307602 | 43007847 | 43007929 | Frame-shift |
| ENST00000307602 | 42930122 | 42930172 | In-frame |
| ENST00000307602 | 42986655 | 42986795 | 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 |
| ENST00000307602 | 42906173 | 42906258 | Frame-shift |
| ENST00000307602 | 42925557 | 42925629 | Frame-shift |
| ENST00000307602 | 42950388 | 42950455 | Frame-shift |
| ENST00000307602 | 42964311 | 42964474 | Frame-shift |
| ENST00000307602 | 42968013 | 42968214 | Frame-shift |
| ENST00000307602 | 42997550 | 42997637 | Frame-shift |
| ENST00000307602 | 43002107 | 43002141 | Frame-shift |
| ENST00000307602 | 43007847 | 43007929 | Frame-shift |
| ENST00000307602 | 42930122 | 42930172 | In-frame |
| ENST00000307602 | 42986655 | 42986795 | 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 |
| ENST00000307602 | 42906173 | 42906258 | Frame-shift |
| ENST00000307602 | 42925557 | 42925629 | Frame-shift |
| ENST00000307602 | 42950388 | 42950455 | Frame-shift |
| ENST00000307602 | 42968013 | 42968214 | Frame-shift |
| ENST00000307602 | 43002107 | 43002141 | Frame-shift |
| ENST00000307602 | 43007847 | 43007929 | Frame-shift |
| ENST00000307602 | 42930122 | 42930172 | In-frame |
| ENST00000307602 | 42986655 | 42986795 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HOOK3 |
p-ENSG00000168172_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 |
| ENST00000307602 | 14415 | 718 | 42930122 | 42930172 | 418 | 467 | 72 | 89 |
| ENST00000307602 | 14415 | 718 | 42986655 | 42986795 | 1593 | 1732 | 464 | 510 |
| 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 |
| ENST00000307602 | 14415 | 718 | 42930122 | 42930172 | 418 | 467 | 72 | 89 |
| ENST00000307602 | 14415 | 718 | 42986655 | 42986795 | 1593 | 1732 | 464 | 510 |
| 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 |
| ENST00000307602 | 14415 | 718 | 42930122 | 42930172 | 418 | 467 | 72 | 89 |
| ENST00000307602 | 14415 | 718 | 42986655 | 42986795 | 1593 | 1732 | 464 | 510 |
| 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 |
| Q86VS8 | 72 | 89 | 1 | 718 | Chain | ID=PRO_0000219197;Note=Protein Hook homolog 3 |
| Q86VS8 | 72 | 89 | 10 | 126 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q86VS8 | 72 | 89 | 69 | 89 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6B9H |
| Q86VS8 | 72 | 89 | 1 | 164 | Region | Note=Sufficient for interaction with microtubules |
| Q86VS8 | 464 | 510 | 1 | 718 | Chain | ID=PRO_0000219197;Note=Protein Hook homolog 3 |
| Q86VS8 | 464 | 510 | 462 | 667 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q86VS8 | 72 | 89 | 1 | 718 | Chain | ID=PRO_0000219197;Note=Protein Hook homolog 3 |
| Q86VS8 | 72 | 89 | 10 | 126 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q86VS8 | 72 | 89 | 69 | 89 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6B9H |
| Q86VS8 | 72 | 89 | 1 | 164 | Region | Note=Sufficient for interaction with microtubules |
| Q86VS8 | 464 | 510 | 1 | 718 | Chain | ID=PRO_0000219197;Note=Protein Hook homolog 3 |
| Q86VS8 | 464 | 510 | 462 | 667 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q86VS8 | 72 | 89 | 1 | 718 | Chain | ID=PRO_0000219197;Note=Protein Hook homolog 3 |
| Q86VS8 | 72 | 89 | 10 | 126 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q86VS8 | 72 | 89 | 69 | 89 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6B9H |
| Q86VS8 | 72 | 89 | 1 | 164 | Region | Note=Sufficient for interaction with microtubules |
| Q86VS8 | 464 | 510 | 1 | 718 | Chain | ID=PRO_0000219197;Note=Protein Hook homolog 3 |
| Q86VS8 | 464 | 510 | 462 | 667 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in HOOK3 |
| 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 HOOK3 |
| - 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 HOOK3 |
| 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_55811 | -4.043526e-01 | 3.282820e-02 | chr8 | + | 42997590 | 42997637 | 43000271 | 43000276 | 43002107 | 43002141 |
| CDR | MSBB | IFG | exon_skip_55811 | -4.549835e-01 | 1.498728e-02 | chr8 | + | 42997590 | 42997637 | 43000271 | 43000276 | 43002107 | 43002141 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HOOK3 |
| 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 HOOK3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_129248 | -4.316982e-01 | 7.317241e-08 |
| FL | RALYL | exon_skip_55811 | 4.776352e-01 | 1.893659e-12 |
| PCC | RALYL | exon_skip_55811 | 5.290088e-01 | 7.081490e-15 |
| PG | RALYL | exon_skip_55811 | 5.811597e-01 | 3.449122e-19 |
| STG | RALYL | exon_skip_55811 | 6.144920e-01 | 1.914692e-10 |
| TC | RALYL | exon_skip_55811 | 5.977022e-01 | 2.074442e-15 |
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RelatedDrugs for HOOK3 |
| 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 HOOK3 |
| 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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