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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 TTC5 |
 Gene summary |
| Gene information | Gene symbol | TTC5 | Gene ID | 91875 |
| Gene name | tetratricopeptide repeat domain 5 | |
| Synonyms | Strap | |
| Cytomap | 14q11.2 | |
| Type of gene | protein-coding | |
| Description | tetratricopeptide repeat protein 5TPR repeat protein 5stress-responsive activator of p300 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N0Z6 | |
| Context | PubMed: TTC5 [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 TTC5 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 TTC5 |
| 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 TTC5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_110919 | 14 | 20757687:20757905:20760141:20760286:20763470:20763685 | 20760141:20760286 | ENSG00000136319.7 | ENST00000258821.3,ENST00000423949.2,ENST00000383029.3 |
| exon_skip_110920 | 14 | 20763470:20763685:20763866:20764013:20764548:20764605 | 20763866:20764013 | ENSG00000136319.7 | ENST00000554157.1,ENST00000258821.3,ENST00000423949.2,ENST00000383029.3 |
| exon_skip_110921 | 14 | 20764548:20764605:20766955:20767047:20767456:20767563 | 20766955:20767047 | ENSG00000136319.7 | ENST00000554157.1,ENST00000258821.3,ENST00000423949.2,ENST00000383029.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TTC5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_110916 | 14 | 20725876:20725934:20726343:20726358:20729771:20729892 | 20726343:20726358 | ENSG00000136319.7 | ENST00000556592.1 |
| exon_skip_110919 | 14 | 20757687:20757905:20760141:20760286:20763470:20763685 | 20760141:20760286 | ENSG00000136319.7 | ENST00000258821.3,ENST00000383029.3,ENST00000423949.2 |
| exon_skip_110920 | 14 | 20763470:20763685:20763866:20764013:20764548:20764605 | 20763866:20764013 | ENSG00000136319.7 | ENST00000258821.3,ENST00000383029.3,ENST00000554157.1,ENST00000423949.2 |
| exon_skip_110921 | 14 | 20764548:20764605:20766955:20767047:20767456:20767563 | 20766955:20767047 | ENSG00000136319.7 | ENST00000258821.3,ENST00000383029.3,ENST00000554157.1,ENST00000423949.2 |
| 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 TTC5 |
| 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 |
| ENST00000258821 | 20760141 | 20760286 | Frame-shift |
| ENST00000258821 | 20766955 | 20767047 | Frame-shift |
| ENST00000258821 | 20763866 | 20764013 | 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 |
| ENST00000258821 | 20760141 | 20760286 | Frame-shift |
| ENST00000258821 | 20766955 | 20767047 | Frame-shift |
| ENST00000258821 | 20763866 | 20764013 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TTC5 |
| 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 |
| ENST00000258821 | 4796 | 440 | 20763866 | 20764013 | 754 | 900 | 232 | 281 |
| 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 |
| ENST00000258821 | 4796 | 440 | 20763866 | 20764013 | 754 | 900 | 232 | 281 |
| 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 |
| Q8N0Z6 | 232 | 281 | 1 | 440 | Chain | ID=PRO_0000106381;Note=Tetratricopeptide repeat protein 5 |
| Q8N0Z6 | 232 | 281 | 262 | 280 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XVS |
| Q8N0Z6 | 232 | 281 | 281 | 283 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XVS |
| Q8N0Z6 | 232 | 281 | 224 | 253 | Repeat | Note=TPR 6;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00339,ECO:0000269|PubMed:22362889;Dbxref=PMID:22362889 |
| 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 |
| Q8N0Z6 | 232 | 281 | 1 | 440 | Chain | ID=PRO_0000106381;Note=Tetratricopeptide repeat protein 5 |
| Q8N0Z6 | 232 | 281 | 262 | 280 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XVS |
| Q8N0Z6 | 232 | 281 | 281 | 283 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XVS |
| Q8N0Z6 | 232 | 281 | 224 | 253 | Repeat | Note=TPR 6;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00339,ECO:0000269|PubMed:22362889;Dbxref=PMID:22362889 |
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SNVs in the skipped exons for TTC5 |
| - 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 |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_110920 | 20763867 | 20764013 | 20763965 | 20763966 | Frame_Shift_Del | GA | - | p.249_249del |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_110920 | 20763867 | 20764013 | 20763965 | 20763966 | Frame_Shift_Del | GA | - | p.R249fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_110920 | 20763867 | 20764013 | 20763965 | 20763966 | Frame_Shift_Del | GA | - | p.SR248fs |
| KICH | TCGA-KN-8428-01 | exon_skip_110920 | 20763867 | 20764013 | 20763923 | 20763923 | Nonsense_Mutation | G | A | p.R263* |
| - 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 |
| MCC13_SKIN | 20763867 | 20764013 | 20763878 | 20763878 | Missense_Mutation | G | A | p.L278F |
| SNU601_STOMACH | 20763867 | 20764013 | 20763881 | 20763881 | Missense_Mutation | G | A | p.L277F |
| ECC12_STOMACH | 20763867 | 20764013 | 20763881 | 20763881 | Missense_Mutation | G | A | p.L277F |
| KYSE270_OESOPHAGUS | 20763867 | 20764013 | 20763898 | 20763898 | Missense_Mutation | A | G | p.L271P |
| BT483_BREAST | 20763867 | 20764013 | 20763919 | 20763919 | Missense_Mutation | T | A | p.E264V |
| SW13_ADRENAL_CORTEX | 20766956 | 20767047 | 20767030 | 20767030 | Missense_Mutation | A | G | p.Y189H |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20760142 | 20760286 | 20760253 | 20760253 | Nonsense_Mutation | G | T | p.C364* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTC5 |
| 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 TTC5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTC5 |
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RelatedDrugs for TTC5 |
| 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 TTC5 |
| 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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