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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 THOC5 |
 Gene summary |
| Gene information | Gene symbol | THOC5 | Gene ID | 8563 |
| Gene name | THO complex 5 | |
| Synonyms | C22orf19|Fmip|PK1.3|fSAP79 | |
| Cytomap | 22q12.2 | |
| Type of gene | protein-coding | |
| Description | THO complex subunit 5 homologFms-interacting proteinNF2/meningioma region protein pK1.3PP39.2functional spliceosome-associated protein 79hTREX90placental protein 39.2 | |
| Modification date | 20200313 | |
| UniProtAcc | C9JCL9, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| THOC5 | GO:0006406 | mRNA export from nucleus | 17190602 |
| THOC5 | GO:0030224 | monocyte differentiation | 19015024 |
| THOC5 | GO:0046784 | viral mRNA export from host cell nucleus | 18974867 |
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Gene structures and expression levels for THOC5 |
| 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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ENSG00000100296
| 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 THOC5 |
| 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_107400 | chr22 | 29549052:29549158:29550728:29550843:29553448:29553655 | 29550728:29550843 |
| exon_skip_154787 | chr22 | 29528078:29528177:29528274:29528359:29528426:29528466 | 29528274:29528359 |
| exon_skip_182902 | chr22 | 29549052:29549158:29550728:29550843:29553448:29553495 | 29550728:29550843 |
| exon_skip_211698 | chr22 | 29549052:29549158:29550728:29550843:29553448:29553589 | 29550728:29550843 |
| exon_skip_289667 | chr22 | 29529162:29529239:29531078:29531110:29531831:29531963 | 29531078:29531110 |
| exon_skip_34934 | chr22 | 29529162:29529239:29531831:29531963:29536624:29536738 | 29531831:29531963 |
| exon_skip_77952 | chr22 | 29549052:29549158:29550728:29550843:29553671:29553741 | 29550728:29550843 |
| 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 THOC5 |
| 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 |
| ENST00000397872 | 29550728 | 29550843 | 3UTR-3UTR |
| ENST00000397873 | 29550728 | 29550843 | 3UTR-3UTR |
| 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 |
| ENST00000397873 | 29550728 | 29550843 | 3UTR-3UTR |
| ENST00000397871 | 29531831 | 29531963 | Frame-shift |
| ENST00000397872 | 29531831 | 29531963 | Frame-shift |
| ENST00000397873 | 29531831 | 29531963 | Frame-shift |
| ENST00000490103 | 29531831 | 29531963 | 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 |
| ENST00000397872 | 29550728 | 29550843 | 3UTR-3UTR |
| ENST00000397873 | 29550728 | 29550843 | 3UTR-3UTR |
| ENST00000397871 | 29531831 | 29531963 | Frame-shift |
| ENST00000397872 | 29531831 | 29531963 | Frame-shift |
| ENST00000397873 | 29531831 | 29531963 | Frame-shift |
| ENST00000490103 | 29531831 | 29531963 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for THOC5 |
p-ENSG00000100296_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 THOC5 |
| 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 | ENST00000397873 | 29550728 | 29550843 | hsa-miR-4310 | chr22:29550832-29550839 | 8mer-1a | chr22:29550817-29550839 | 155.00 | -17.53 |
| Mayo | ENST00000397873 | 29550728 | 29550843 | hsa-miR-4726-3p | chr22:29550789-29550796 | 8mer-1a | chr22:29550783-29550807 | 151.00 | -23.07 |
| Mayo | ENST00000397873 | 29550728 | 29550843 | hsa-miR-6791-3p | chr22:29550755-29550762 | 8mer-1a | chr22:29550743-29550762 | 144.00 | -20.76 |
| Mayo | ENST00000397873 | 29550728 | 29550843 | hsa-miR-7157-5p | chr22:29550832-29550839 | 8mer-1a | chr22:29550817-29550839 | 155.00 | -17.53 |
| Mayo | ENST00000397873 | 29550728 | 29550843 | hsa-miR-2355-5p | chr22:29550768-29550775 | 8mer-1a | chr22:29550756-29550775 | 150.00 | -15.97 |
| Mayo | ENST00000397873 | 29550728 | 29550843 | hsa-miR-4786-3p | chr22:29550800-29550807 | 8mer-1a | chr22:29550783-29550807 | 151.00 | -23.07 |
| Mayo | ENST00000397873 | 29550728 | 29550843 | hsa-miR-6829-3p | chr22:29550755-29550762 | 8mer-1a | chr22:29550743-29550762 | 144.00 | -20.76 |
| MSBB | ENST00000397873 | 29550728 | 29550843 | hsa-miR-4310 | chr22:29550832-29550839 | 8mer-1a | chr22:29550817-29550839 | 155.00 | -17.53 |
| MSBB | ENST00000397873 | 29550728 | 29550843 | hsa-miR-4726-3p | chr22:29550789-29550796 | 8mer-1a | chr22:29550783-29550807 | 151.00 | -23.07 |
| MSBB | ENST00000397873 | 29550728 | 29550843 | hsa-miR-6791-3p | chr22:29550755-29550762 | 8mer-1a | chr22:29550743-29550762 | 144.00 | -20.76 |
| MSBB | ENST00000397873 | 29550728 | 29550843 | hsa-miR-7157-5p | chr22:29550832-29550839 | 8mer-1a | chr22:29550817-29550839 | 155.00 | -17.53 |
| MSBB | ENST00000397873 | 29550728 | 29550843 | hsa-miR-2355-5p | chr22:29550768-29550775 | 8mer-1a | chr22:29550756-29550775 | 150.00 | -15.97 |
| MSBB | ENST00000397873 | 29550728 | 29550843 | hsa-miR-4786-3p | chr22:29550800-29550807 | 8mer-1a | chr22:29550783-29550807 | 151.00 | -23.07 |
| MSBB | ENST00000397873 | 29550728 | 29550843 | hsa-miR-6829-3p | chr22:29550755-29550762 | 8mer-1a | chr22:29550743-29550762 | 144.00 | -20.76 |
| ROSMAP | ENST00000397873 | 29550728 | 29550843 | hsa-miR-4310 | chr22:29550832-29550839 | 8mer-1a | chr22:29550817-29550839 | 155.00 | -17.53 |
| ROSMAP | ENST00000397873 | 29550728 | 29550843 | hsa-miR-4726-3p | chr22:29550789-29550796 | 8mer-1a | chr22:29550783-29550807 | 151.00 | -23.07 |
| ROSMAP | ENST00000397873 | 29550728 | 29550843 | hsa-miR-6791-3p | chr22:29550755-29550762 | 8mer-1a | chr22:29550743-29550762 | 144.00 | -20.76 |
| ROSMAP | ENST00000397873 | 29550728 | 29550843 | hsa-miR-7157-5p | chr22:29550832-29550839 | 8mer-1a | chr22:29550817-29550839 | 155.00 | -17.53 |
| ROSMAP | ENST00000397873 | 29550728 | 29550843 | hsa-miR-2355-5p | chr22:29550768-29550775 | 8mer-1a | chr22:29550756-29550775 | 150.00 | -15.97 |
| ROSMAP | ENST00000397873 | 29550728 | 29550843 | hsa-miR-4786-3p | chr22:29550800-29550807 | 8mer-1a | chr22:29550783-29550807 | 151.00 | -23.07 |
| ROSMAP | ENST00000397873 | 29550728 | 29550843 | hsa-miR-6829-3p | chr22:29550755-29550762 | 8mer-1a | chr22:29550743-29550762 | 144.00 | -20.76 |
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SNVs in the skipped exons for THOC5 |
| - 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 THOC5 |
| 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 THOC5 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_289667 | rs2188120 | chr22:29524830 | 1.052011e-10 | 1.060678e-07 |
| CB | exon_skip_289667 | rs456300 | chr22:29564346 | 9.196818e-09 | 5.900734e-06 |
| CB | exon_skip_289667 | rs2007668 | chr22:29512165 | 1.371301e-08 | 8.266065e-06 |
| CB | exon_skip_289667 | rs467812 | chr22:29544960 | 1.371301e-08 | 8.266065e-06 |
| CB | exon_skip_289667 | rs8135828 | chr22:29533250 | 1.725125e-08 | 1.019925e-05 |
| CB | exon_skip_289667 | rs2283859 | chr22:29508530 | 2.100127e-08 | 1.218247e-05 |
| CB | exon_skip_289667 | rs9613968 | chr22:29584326 | 2.873421e-06 | 8.801293e-04 |
| TC | exon_skip_289667 | rs2188120 | chr22:29524830 | 1.433361e-05 | 3.328835e-03 |
| TC | exon_skip_289667 | rs2283859 | chr22:29508530 | 1.370320e-04 | 2.102181e-02 |
| TC | exon_skip_289667 | rs8135828 | chr22:29533250 | 2.361176e-04 | 3.241848e-02 |
| HCC | exon_skip_289667 | rs469363 | chr22:29556192 | 7.709699e-09 | 1.935697e-06 |
| HCC | exon_skip_289667 | rs2074948 | chr22:29511861 | 8.045006e-09 | 2.006336e-06 |
| HCC | exon_skip_289667 | rs2188120 | chr22:29524830 | 1.356233e-08 | 3.241005e-06 |
| HCC | exon_skip_289667 | rs11704899 | chr22:29522493 | 3.983366e-07 | 7.056554e-05 |
| HCC | exon_skip_289667 | rs8135828 | chr22:29533250 | 7.618768e-07 | 1.276681e-04 |
| HCC | exon_skip_289667 | rs1006396 | chr22:29621011 | 7.618768e-07 | 1.276681e-04 |
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Correlation with RNA binding proteins (RBPs) for THOC5 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP1 | exon_skip_77952 | -4.626274e-01 | 1.199672e-09 |
| CB | PCBP4 | exon_skip_77952 | 5.606537e-01 | 2.714206e-14 |
| CB | TRA2A | exon_skip_77952 | -5.429964e-01 | 2.421948e-13 |
| CB | FUBP1 | exon_skip_77952 | -4.468664e-01 | 4.985097e-09 |
| CB | RBM23 | exon_skip_77952 | -4.413448e-01 | 8.073518e-09 |
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RelatedDrugs for THOC5 |
| 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 THOC5 |
| 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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