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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 TMC2 |
 Gene summary |
| Gene information | Gene symbol | TMC2 | Gene ID | 117532 |
| Gene name | transmembrane channel like 2 | |
| Synonyms | C20orf145 | |
| Cytomap | 20p13 | |
| Type of gene | protein-coding | |
| Description | transmembrane channel-like protein 2transmembrane cochlear-expressed gene 2transmembrane cochlear-expressed protein 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8TDI7 | |
| Context | PubMed: TMC2 [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 TMC2 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 TMC2 |
| 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 TMC2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_348498 | 20 | 2572955:2573054:2575470:2575613:2577796:2577944 | 2575470:2575613 | ENSG00000149488.11 | ENST00000358864.1 |
| exon_skip_348499 | 20 | 2591064:2591244:2592836:2592986:2593839:2593872 | 2592836:2592986 | ENSG00000149488.11 | ENST00000496948.1,ENST00000358864.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TMC2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_348498 | 20 | 2572955:2573054:2575470:2575613:2577796:2577944 | 2575470:2575613 | ENSG00000149488.11 | ENST00000358864.1 |
| exon_skip_348499 | 20 | 2591064:2591244:2592836:2592986:2593839:2593872 | 2592836:2592986 | ENSG00000149488.11 | ENST00000358864.1,ENST00000496948.1 |
| 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 TMC2 |
| 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 |
| ENST00000358864 | 2575470 | 2575613 | Frame-shift |
| ENST00000358864 | 2592836 | 2592986 | 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 |
| ENST00000358864 | 2575470 | 2575613 | Frame-shift |
| ENST00000358864 | 2592836 | 2592986 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TMC2 |
| 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 |
| ENST00000358864 | 3186 | 906 | 2592836 | 2592986 | 1609 | 1758 | 531 | 581 |
| 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 |
| ENST00000358864 | 3186 | 906 | 2592836 | 2592986 | 1609 | 1758 | 531 | 581 |
| 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 TMC2 |
| - 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 |
| LUAD | TCGA-55-7576-01 | exon_skip_348499 | 2592837 | 2592986 | 2592980 | 2592980 | Frame_Shift_Del | G | - | p.V579fs |
| LUSC | TCGA-66-2788-01 | exon_skip_348498 | 2575471 | 2575613 | 2575614 | 2575614 | Splice_Site | G | A | p.S359_splice |
| STAD | TCGA-CG-4300-01 | exon_skip_348499 | 2592837 | 2592986 | 2592836 | 2592836 | Splice_Site | G | A | p.L532_splice |
| - 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 |
| A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2575471 | 2575613 | 2575490 | 2575490 | Missense_Mutation | C | A | p.A318E |
| HEC251_ENDOMETRIUM | 2575471 | 2575613 | 2575495 | 2575495 | Missense_Mutation | T | G | p.F320V |
| PC3_PROSTATE | 2575471 | 2575613 | 2575529 | 2575529 | Missense_Mutation | G | T | p.G331V |
| PC3JPC3_LUNG | 2575471 | 2575613 | 2575529 | 2575529 | Missense_Mutation | G | T | p.G331V |
| NCIH2023_LUNG | 2575471 | 2575613 | 2575532 | 2575532 | Missense_Mutation | G | T | p.W332L |
| IM95_STOMACH | 2575471 | 2575613 | 2575550 | 2575550 | Missense_Mutation | C | A | p.P338H |
| SNUC2A_LARGE_INTESTINE | 2575471 | 2575613 | 2575555 | 2575555 | Missense_Mutation | G | A | p.A340T |
| SNUC2B_LARGE_INTESTINE | 2575471 | 2575613 | 2575555 | 2575555 | Missense_Mutation | G | A | p.A340T |
| NB14_AUTONOMIC_GANGLIA | 2575471 | 2575613 | 2575598 | 2575598 | Missense_Mutation | T | G | p.I354S |
| LOVO_LARGE_INTESTINE | 2575471 | 2575613 | 2575610 | 2575610 | Missense_Mutation | G | A | p.R358Q |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2592837 | 2592986 | 2592843 | 2592843 | Missense_Mutation | A | G | p.N534D |
| SNU1040_LARGE_INTESTINE | 2592837 | 2592986 | 2592862 | 2592862 | Missense_Mutation | A | G | p.N540S |
| HGC27_STOMACH | 2592837 | 2592986 | 2592872 | 2592872 | Missense_Mutation | C | G | p.H543Q |
| DOV13_OVARY | 2592837 | 2592986 | 2592892 | 2592892 | Missense_Mutation | A | G | p.Y550C |
| HS294T_SKIN | 2592837 | 2592986 | 2592892 | 2592892 | Missense_Mutation | A | G | p.Y550C |
| BECKER_CENTRAL_NERVOUS_SYSTEM | 2592837 | 2592986 | 2592903 | 2592903 | Missense_Mutation | G | T | p.G554C |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2592837 | 2592986 | 2592954 | 2592954 | Missense_Mutation | C | T | p.R571W |
| MZ7MEL_SKIN | 2575471 | 2575613 | 2575613 | 2575613 | Splice_Site | C | T | p.S359L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMC2 |
| 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 TMC2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMC2 |
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RelatedDrugs for TMC2 |
| 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 TMC2 |
| 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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