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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 TTC8 |
 Gene summary |
| Gene information | Gene symbol | TTC8 | Gene ID | 123016 |
| Gene name | tetratricopeptide repeat domain 8 | |
| Synonyms | BBS8|RP51 | |
| Cytomap | 14q31.3 | |
| Type of gene | protein-coding | |
| Description | tetratricopeptide repeat protein 8Bardet-Biedl syndrome type 8TPR repeat protein 8 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A0C4DFT4, A0A0C4DGH8, A0A0C4DGX9, | |
| 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 TTC8 |
| 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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ENSG00000165533
| 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 |
| PG | DOWN | ENST00000556567.5 | TTC8-213:retained_intron:TTC8 | 7.243013e+00 | -8.702916e-01 | 1.615128e-06 | 1.278723e-04 |
| CB | DOWN | ENST00000354441.10 | TTC8-204:protein_coding:TTC8 | 8.850257e+01 | -1.632860e+00 | 2.470276e-05 | 2.262941e-04 |
| 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 TTC8 |
| 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_105835 | chr14 | 88841425:88841514:88843806:88843850:88852971:88852997 | 88843806:88843850 |
| exon_skip_105881 | chr14 | 88843806:88843850:88846848:88846907:88852971:88852997 | 88846848:88846907 |
| exon_skip_110593 | chr14 | 88872337:88872452:88875026:88875109:88877294:88877334 | 88875026:88875109 |
| exon_skip_111210 | chr14 | 88843806:88843850:88846598:88846675:88852971:88852997 | 88846598:88846675 |
| exon_skip_138512 | chr14 | 88841037:88841196:88841425:88841514:88843806:88843850 | 88841425:88841514 |
| exon_skip_152378 | chr14 | 88841037:88841196:88841425:88841514:88852971:88852997 | 88841425:88841514 |
| exon_skip_177487 | chr14 | 88841037:88841196:88843806:88843850:88852971:88852997 | 88843806:88843850 |
| exon_skip_182389 | chr14 | 88843806:88843850:88852971:88853056:88857190:88857265 | 88852971:88853056 |
| exon_skip_184370 | chr14 | 88824574:88824821:88836908:88837066:88839452:88839572 | 88836908:88837066 |
| exon_skip_255962 | chr14 | 88841485:88841514:88843806:88843850:88852971:88852997 | 88843806:88843850 |
| exon_skip_258930 | chr14 | 88824739:88824821:88833693:88833722:88839452:88839572 | 88833693:88833722 |
| exon_skip_59520 | chr14 | 88872337:88872452:88875026:88875109:88877294:88877951 | 88875026:88875109 |
| exon_skip_64078 | chr14 | 88843806:88843850:88846598:88846675:88852971:88853056 | 88846598:88846675 |
| exon_skip_69225 | chr14 | 88872330:88872452:88875026:88875109:88877294:88877478 | 88875026:88875109 |
| exon_skip_69395 | chr14 | 88872337:88872452:88875026:88875109:88877294:88877956 | 88875026:88875109 |
| 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 TTC8 |
| 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 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for TTC8 |
p-ENSG00000165533_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 TTC8 |
| 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 TTC8 |
| - 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 TTC8 |
| 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 TTC8 |
| 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 TTC8 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_59520 | -4.838211e-01 | 1.043184e-10 |
| CB | RBM3 | exon_skip_59520 | 4.027815e-01 | 1.413465e-07 |
| CB | FUBP1 | exon_skip_59520 | -4.692928e-01 | 4.383145e-10 |
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RelatedDrugs for TTC8 |
| 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 TTC8 |
| 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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