|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for TTC16 |
 Gene summary |
| Gene information | Gene symbol | TTC16 | Gene ID | 158248 |
| Gene name | tetratricopeptide repeat domain 16 | |
| Synonyms | - | |
| Cytomap | 9q34.11 | |
| Type of gene | protein-coding | |
| Description | tetratricopeptide repeat protein 16TPR repeat protein 16 | |
| Modification date | 20180329 | |
| UniProtAcc | Q8NEE8 | |
| Context | PubMed: TTC16 [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 |
Top |
Exon skipping events across known transcript of Ensembl for TTC16 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. |
 |
Top |
Gene isoform structures and expression levels for TTC16 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for TTC16 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_499349 | 9 | 130479612:130479703:130479907:130480051:130482356:130482457 | 130479907:130480051 | ENSG00000167094.11 | ENST00000393748.4,ENST00000373289.3 |
| exon_skip_499350 | 9 | 130486398:130486643:130487034:130487176:130488517:130488581 | 130487034:130487176 | ENSG00000167094.11 | ENST00000373289.3 |
| exon_skip_499351 | 9 | 130488517:130488683:130489248:130489391:130489548:130489744 | 130489248:130489391 | ENSG00000167094.11 | ENST00000489226.1,ENST00000373289.3,ENST00000488285.1 |
| exon_skip_499353 | 9 | 130489548:130489744:130491859:130491947:130492914:130493868 | 130491859:130491947 | ENSG00000167094.11 | ENST00000373289.3,ENST00000488285.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for TTC16 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_499349 | 9 | 130479612:130479703:130479907:130480051:130482356:130482457 | 130479907:130480051 | ENSG00000167094.11 | ENST00000373289.3,ENST00000393748.4 |
| exon_skip_499350 | 9 | 130486398:130486643:130487034:130487176:130488517:130488581 | 130487034:130487176 | ENSG00000167094.11 | ENST00000373289.3 |
| exon_skip_499351 | 9 | 130488517:130488683:130489248:130489391:130489548:130489744 | 130489248:130489391 | ENSG00000167094.11 | ENST00000373289.3,ENST00000489226.1,ENST00000488285.1 |
| exon_skip_499353 | 9 | 130489548:130489744:130491859:130491947:130492914:130493868 | 130491859:130491947 | ENSG00000167094.11 | ENST00000373289.3,ENST00000488285.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TTC16 |
| 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 |
| ENST00000373289 | 130487034 | 130487176 | Frame-shift |
| ENST00000373289 | 130489248 | 130489391 | Frame-shift |
| ENST00000373289 | 130491859 | 130491947 | Frame-shift |
| ENST00000373289 | 130479907 | 130480051 | 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 |
| ENST00000373289 | 130487034 | 130487176 | Frame-shift |
| ENST00000373289 | 130489248 | 130489391 | Frame-shift |
| ENST00000373289 | 130491859 | 130491947 | Frame-shift |
| ENST00000373289 | 130479907 | 130480051 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for TTC16 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000373289 | 2914 | 873 | 130479907 | 130480051 | 363 | 506 | 94 | 142 |
| 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 |
| ENST00000373289 | 2914 | 873 | 130479907 | 130480051 | 363 | 506 | 94 | 142 |
| 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 |
| Q8NEE8 | 94 | 142 | 1 | 176 | Alternative sequence | ID=VSP_056854;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8NEE8 | 94 | 142 | 1 | 873 | Chain | ID=PRO_0000106403;Note=Tetratricopeptide repeat protein 16 |
| Q8NEE8 | 94 | 142 | 61 | 94 | Repeat | Note=TPR 1 |
| Q8NEE8 | 94 | 142 | 96 | 128 | Repeat | Note=TPR 2 |
| Q8NEE8 | 94 | 142 | 136 | 169 | Repeat | Note=TPR 3 |
| 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 |
| Q8NEE8 | 94 | 142 | 1 | 176 | Alternative sequence | ID=VSP_056854;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8NEE8 | 94 | 142 | 1 | 873 | Chain | ID=PRO_0000106403;Note=Tetratricopeptide repeat protein 16 |
| Q8NEE8 | 94 | 142 | 61 | 94 | Repeat | Note=TPR 1 |
| Q8NEE8 | 94 | 142 | 96 | 128 | Repeat | Note=TPR 2 |
| Q8NEE8 | 94 | 142 | 136 | 169 | Repeat | Note=TPR 3 |
Top |
SNVs in the skipped exons for TTC16 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| THCA | TCGA-EM-A2CJ-01 | exon_skip_499350 | 130487035 | 130487176 | 130487098 | 130487098 | Frame_Shift_Del | T | - | p.L394fs |
| STAD | TCGA-BR-4257-01 | exon_skip_499353 | 130491860 | 130491947 | 130491862 | 130491863 | Frame_Shift_Ins | - | A | p.E589fs |
| STAD | TCGA-BR-4257-01 | exon_skip_499353 | 130491860 | 130491947 | 130491863 | 130491864 | Frame_Shift_Ins | - | A | p.E589fs |
| THCA | TCGA-EM-A2CJ-01 | exon_skip_499350 | 130487035 | 130487176 | 130487098 | 130487098 | Nonsense_Mutation | T | - | p.L394X |
| KIRP | TCGA-Y8-A896-01 | exon_skip_499349 | 130479908 | 130480051 | 130480052 | 130480052 | Splice_Site | G | A | . |
| - 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 |
| HCT15_LARGE_INTESTINE | 130491860 | 130491947 | 130491863 | 130491863 | Frame_Shift_Del | A | - | p.K591fs |
| PK59_PANCREAS | 130479908 | 130480051 | 130479926 | 130479926 | Missense_Mutation | C | T | p.R101W |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 130479908 | 130480051 | 130479930 | 130479930 | Missense_Mutation | C | T | p.A102V |
| NCIH1048_LUNG | 130479908 | 130480051 | 130479986 | 130479986 | Missense_Mutation | G | T | p.A121S |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 130487035 | 130487176 | 130487079 | 130487079 | Missense_Mutation | T | C | p.Y388H |
| SKPNDW_BONE | 130487035 | 130487176 | 130487092 | 130487092 | Missense_Mutation | T | C | p.L392P |
| LS411N_LARGE_INTESTINE | 130487035 | 130487176 | 130487154 | 130487154 | Missense_Mutation | G | A | p.G413S |
| CA922_UPPER_AERODIGESTIVE_TRACT | 130491860 | 130491947 | 130491908 | 130491908 | Missense_Mutation | A | G | p.S605G |
| M980513_SKIN | 130479908 | 130480051 | 130479998 | 130479998 | Nonsense_Mutation | C | T | p.Q125* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTC16 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTC16 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTC16 |
Top |
RelatedDrugs for TTC16 |
| 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 |
Top |
RelatedDiseases for TTC16 |
| 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)
|