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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for TTC29 |
 Gene summary |
| Gene information | Gene symbol | TTC29 | Gene ID | 83894 |
| Gene name | tetratricopeptide repeat domain 29 | |
| Synonyms | NYD-SP14|TBPP2A | |
| Cytomap | 4q31.22 | |
| Type of gene | protein-coding | |
| Description | tetratricopeptide repeat protein 29TPR repeat protein 29testicular secretory protein Li 62testis development protein NYD-SP14 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8NA56 | |
| Context | PubMed: TTC29 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for TTC29 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for TTC29 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TTC29 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_432546 | 4 | 147741276:147741400:147752792:147752946:147754957:147755049 | 147752792:147752946 | ENSG00000137473.13 | ENST00000508306.1 |
| exon_skip_432547 | 4 | 147788649:147788735:147795867:147796080:147824695:147824881 | 147795867:147796080 | ENSG00000137473.13 | ENST00000508306.1,ENST00000513335.1,ENST00000504425.1,ENST00000325106.4,ENST00000398886.4 |
| exon_skip_432548 | 4 | 147860968:147861053:147863735:147863836:147866182:147866200 | 147863735:147863836 | ENSG00000137473.13 | ENST00000513335.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TTC29 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_432546 | 4 | 147741276:147741400:147752792:147752946:147754957:147755049 | 147752792:147752946 | ENSG00000137473.13 | ENST00000508306.1 |
| exon_skip_432547 | 4 | 147788649:147788735:147795867:147796080:147824695:147824881 | 147795867:147796080 | ENSG00000137473.13 | ENST00000513335.1,ENST00000398886.4,ENST00000325106.4,ENST00000508306.1,ENST00000504425.1 |
| exon_skip_432548 | 4 | 147860968:147861053:147863735:147863836:147866182:147866200 | 147863735:147863836 | ENSG00000137473.13 | ENST00000513335.1 |
| exon_skip_432550 | 4 | 147863735:147863836:147865248:147865485:147866182:147866200 | 147865248:147865485 | ENSG00000137473.13 | ENST00000515315.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for TTC29 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000325106 | 147795867 | 147796080 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000325106 | 147795867 | 147796080 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TTC29 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000325106 | 1802 | 475 | 147795867 | 147796080 | 814 | 1026 | 195 | 266 |
| Loci of skipped exons in GTEx 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 |
| ENST00000325106 | 1802 | 475 | 147795867 | 147796080 | 814 | 1026 | 195 | 266 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q8NA56 | 195 | 266 | 1 | 475 | Chain | ID=PRO_0000294435;Note=Tetratricopeptide repeat protein 29 |
| Q8NA56 | 195 | 266 | 182 | 215 | Repeat | Note=TPR 1 |
| Q8NA56 | 195 | 266 | 234 | 267 | Repeat | Note=TPR 2 |
| Q8NA56 | 195 | 266 | 239 | 239 | Sequence conflict | Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q8NA56 | 195 | 266 | 1 | 475 | Chain | ID=PRO_0000294435;Note=Tetratricopeptide repeat protein 29 |
| Q8NA56 | 195 | 266 | 182 | 215 | Repeat | Note=TPR 1 |
| Q8NA56 | 195 | 266 | 234 | 267 | Repeat | Note=TPR 2 |
| Q8NA56 | 195 | 266 | 239 | 239 | Sequence conflict | Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for TTC29 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| BLCA | TCGA-YF-AA3L-01 | exon_skip_432547 | 147795868 | 147796080 | 147796039 | 147796039 | Nonsense_Mutation | G | A | p.Q236* |
| LUAD | TCGA-44-7670-01 | exon_skip_432547 | 147795868 | 147796080 | 147796051 | 147796051 | Nonsense_Mutation | C | A | p.E206* |
| LUAD | TCGA-44-7670-01 | exon_skip_432547 | 147795868 | 147796080 | 147796051 | 147796051 | Nonsense_Mutation | C | A | p.E232* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| JHUEM7_ENDOMETRIUM | 147795868 | 147796080 | 147795900 | 147795900 | Missense_Mutation | A | G | p.I256T |
| MRKNU1_BREAST | 147795868 | 147796080 | 147795978 | 147795978 | Missense_Mutation | C | T | p.C230Y |
| SNU216_STOMACH | 147795868 | 147796080 | 147795999 | 147795999 | Missense_Mutation | C | T | p.R223H |
| SNU81_LARGE_INTESTINE | 147795868 | 147796080 | 147796023 | 147796023 | Missense_Mutation | C | T | p.R215Q |
| MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 147795868 | 147796080 | 147796033 | 147796033 | Missense_Mutation | T | C | p.T212A |
| HCC2998_LARGE_INTESTINE | 147795868 | 147796080 | 147796051 | 147796051 | Nonsense_Mutation | C | A | p.E206* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTC29 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTC29 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTC29 |
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RelatedDrugs for TTC29 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TTC29 |
| 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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