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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 TMC3 |
 Gene summary |
| Gene information | Gene symbol | TMC3 | Gene ID | 342125 |
| Gene name | transmembrane channel like 3 | |
| Synonyms | - | |
| Cytomap | 15q25.1 | |
| Type of gene | protein-coding | |
| Description | transmembrane channel-like protein 3 | |
| Modification date | 20180523 | |
| UniProtAcc | Q7Z5M5 | |
| Context | PubMed: TMC3 [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 TMC3 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 TMC3 |
| 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 TMC3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_130173 | 15 | 81623557:81625603:81627060:81627316:81628949:81628992 | 81627060:81627316 | ENSG00000188869.8 | ENST00000359440.5,ENST00000558726.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TMC3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_130173 | 15 | 81623557:81625603:81627060:81627316:81628949:81628992 | 81627060:81627316 | ENSG00000188869.8 | ENST00000558726.1,ENST00000359440.5 |
| 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 TMC3 |
| 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 |
| ENST00000359440 | 81627060 | 81627316 | Frame-shift |
| 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 |
| ENST00000359440 | 81627060 | 81627316 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TMC3 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for TMC3 |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_130173 | 81627061 | 81627316 | 81627090 | 81627090 | Frame_Shift_Del | G | - | p.P811fs |
| LUSC | TCGA-33-4583-01 | exon_skip_130173 | 81627061 | 81627316 | 81627216 | 81627216 | Frame_Shift_Del | G | - | p.N768fs |
| - 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 |
| SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 81627061 | 81627316 | 81627154 | 81627155 | Frame_Shift_Del | TG | - | p.Q789fs |
| NCIH1581_LUNG | 81627061 | 81627316 | 81627097 | 81627097 | Missense_Mutation | C | T | p.G808E |
| GMEL_SKIN | 81627061 | 81627316 | 81627131 | 81627131 | Missense_Mutation | G | A | p.P797S |
| EFO21_OVARY | 81627061 | 81627316 | 81627167 | 81627167 | Missense_Mutation | C | T | p.E785K |
| UO31_KIDNEY | 81627061 | 81627316 | 81627169 | 81627169 | Missense_Mutation | A | G | p.I784T |
| IGROV1_OVARY | 81627061 | 81627316 | 81627190 | 81627190 | Missense_Mutation | C | T | p.G777E |
| RKO_LARGE_INTESTINE | 81627061 | 81627316 | 81627217 | 81627217 | Missense_Mutation | T | C | p.N768S |
| RH41_SOFT_TISSUE | 81627061 | 81627316 | 81627236 | 81627236 | Missense_Mutation | A | C | p.S762A |
| RH4_SOFT_TISSUE | 81627061 | 81627316 | 81627236 | 81627236 | Missense_Mutation | A | C | p.S762A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMC3 |
| 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 TMC3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMC3 |
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RelatedDrugs for TMC3 |
| 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 TMC3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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