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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 TTC19 |
 Gene summary |
| Gene information | Gene symbol | TTC19 | Gene ID | 54902 |
| Gene name | tetratricopeptide repeat domain 19 | |
| Synonyms | 2010204O13Rik|MC3DN2 | |
| Cytomap | 17p12 | |
| Type of gene | protein-coding | |
| Description | tetratricopeptide repeat protein 19, mitochondrialTPR repeat protein 19 | |
| Modification date | 20180523 | |
| UniProtAcc | Q6DKK2 | |
| Context | PubMed: TTC19 [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 TTC19 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 TTC19 |
| 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 TTC19 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_149243 | 17 | 15903431:15903559:15905228:15905339:15906106:15906145 | 15905228:15905339 | ENSG00000011295.11 | ENST00000261647.5,ENST00000486880.2,ENST00000497842.2 |
| exon_skip_149244 | 17 | 15905228:15905339:15905970:15906145:15907144:15907167 | 15905970:15906145 | ENSG00000011295.11 | ENST00000470399.1,ENST00000466729.1 |
| exon_skip_149245 | 17 | 15905228:15905339:15906106:15906145:15907144:15907167 | 15906106:15906145 | ENSG00000011295.11 | ENST00000261647.5,ENST00000486880.2,ENST00000475723.1,ENST00000497842.2 |
| exon_skip_149246 | 17 | 15906106:15906145:15907144:15907201:15907514:15907565 | 15907144:15907201 | ENSG00000011295.11 | ENST00000466729.1,ENST00000261647.5,ENST00000486880.2,ENST00000475723.1,ENST00000497842.2 |
| exon_skip_149250 | 17 | 15909791:15909882:15927802:15927896:15928330:15928485 | 15927802:15927896 | ENSG00000011295.11 | ENST00000497842.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TTC19 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_149243 | 17 | 15903431:15903559:15905228:15905339:15906106:15906145 | 15905228:15905339 | ENSG00000011295.11 | ENST00000261647.5,ENST00000486880.2,ENST00000497842.2 |
| exon_skip_149244 | 17 | 15905228:15905339:15905970:15906145:15907144:15907167 | 15905970:15906145 | ENSG00000011295.11 | ENST00000466729.1,ENST00000470399.1 |
| exon_skip_149245 | 17 | 15905228:15905339:15906106:15906145:15907144:15907167 | 15906106:15906145 | ENSG00000011295.11 | ENST00000261647.5,ENST00000486880.2,ENST00000475723.1,ENST00000497842.2 |
| exon_skip_149246 | 17 | 15906106:15906145:15907144:15907201:15907514:15907565 | 15907144:15907201 | ENSG00000011295.11 | ENST00000261647.5,ENST00000486880.2,ENST00000466729.1,ENST00000475723.1,ENST00000497842.2 |
| exon_skip_149250 | 17 | 15909791:15909882:15927802:15927896:15928330:15928485 | 15927802:15927896 | ENSG00000011295.11 | ENST00000497842.2 |
| 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 TTC19 |
| 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 |
| ENST00000261647 | 15905228 | 15905339 | In-frame |
| ENST00000261647 | 15906106 | 15906145 | In-frame |
| ENST00000261647 | 15907144 | 15907201 | 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 |
| ENST00000261647 | 15905228 | 15905339 | In-frame |
| ENST00000261647 | 15906106 | 15906145 | In-frame |
| ENST00000261647 | 15907144 | 15907201 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TTC19 |
| 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 |
| ENST00000261647 | 3019 | 380 | 15905228 | 15905339 | 782 | 892 | 104 | 141 |
| ENST00000261647 | 3019 | 380 | 15906106 | 15906145 | 893 | 931 | 141 | 154 |
| ENST00000261647 | 3019 | 380 | 15907144 | 15907201 | 932 | 988 | 154 | 173 |
| 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 |
| ENST00000261647 | 3019 | 380 | 15905228 | 15905339 | 782 | 892 | 104 | 141 |
| ENST00000261647 | 3019 | 380 | 15906106 | 15906145 | 893 | 931 | 141 | 154 |
| ENST00000261647 | 3019 | 380 | 15907144 | 15907201 | 932 | 988 | 154 | 173 |
| 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 |
| Q6DKK2 | 104 | 141 | 71 | 380 | Chain | ID=PRO_0000106407;Note=Tetratricopeptide repeat protein 19%2C mitochondrial |
| Q6DKK2 | 104 | 141 | 136 | 169 | Repeat | Note=TPR 1 |
| Q6DKK2 | 141 | 154 | 71 | 380 | Chain | ID=PRO_0000106407;Note=Tetratricopeptide repeat protein 19%2C mitochondrial |
| Q6DKK2 | 141 | 154 | 136 | 169 | Repeat | Note=TPR 1 |
| Q6DKK2 | 154 | 173 | 71 | 380 | Chain | ID=PRO_0000106407;Note=Tetratricopeptide repeat protein 19%2C mitochondrial |
| Q6DKK2 | 154 | 173 | 136 | 169 | Repeat | Note=TPR 1 |
| 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 |
| Q6DKK2 | 104 | 141 | 71 | 380 | Chain | ID=PRO_0000106407;Note=Tetratricopeptide repeat protein 19%2C mitochondrial |
| Q6DKK2 | 104 | 141 | 136 | 169 | Repeat | Note=TPR 1 |
| Q6DKK2 | 141 | 154 | 71 | 380 | Chain | ID=PRO_0000106407;Note=Tetratricopeptide repeat protein 19%2C mitochondrial |
| Q6DKK2 | 141 | 154 | 136 | 169 | Repeat | Note=TPR 1 |
| Q6DKK2 | 154 | 173 | 71 | 380 | Chain | ID=PRO_0000106407;Note=Tetratricopeptide repeat protein 19%2C mitochondrial |
| Q6DKK2 | 154 | 173 | 136 | 169 | Repeat | Note=TPR 1 |
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SNVs in the skipped exons for TTC19 |
| - 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 |
| CHOL | TCGA-W5-AA36-01 | exon_skip_149243 | 15905229 | 15905339 | 15905253 | 15905253 | Nonsense_Mutation | G | T | p.E113X |
| - 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 |
| BT20_BREAST | 15905229 | 15905339 | 15905287 | 15905287 | Missense_Mutation | G | T | p.R124L |
| HOP62_LUNG | 15905229 | 15905339 | 15905329 | 15905329 | Missense_Mutation | C | G | p.T138S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTC19 |
| 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 TTC19 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTC19 |
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RelatedDrugs for TTC19 |
| 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 TTC19 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TTC19 | C0021359 | Infertility | 1 | CTD_human |
| TTC19 | C0027765 | nervous system disorder | 1 | CTD_human |
| TTC19 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human;HPO |
| TTC19 | C0751830 | Gait Disorders, Neurologic | 1 | CTD_human |
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