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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 TRPM8 |
 Gene summary |
| Gene information | Gene symbol | TRPM8 | Gene ID | 79054 |
| Gene name | transient receptor potential cation channel subfamily M member 8 | |
| Synonyms | LTRPC6|LTrpC-6|TRPP8|trp-p8 | |
| Cytomap | 2q37.1 | |
| Type of gene | protein-coding | |
| Description | transient receptor potential cation channel subfamily M member 8TRPM8 cationic channeltransient receptor potential p8transient receptor potential subfamily M member 8 | |
| Modification date | 20180519 | |
| UniProtAcc | Q7Z2W7 | |
| Context | PubMed: TRPM8 [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 TRPM8 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 TRPM8 |
| 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 TRPM8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_335062 | 2 | 234835182:234835299:234839312:234839386:234845996:234846094 | 234839312:234839386 | ENSG00000144481.12 | ENST00000444298.1,ENST00000324695.4,ENST00000433712.2 |
| exon_skip_335065 | 2 | 234855731:234855799:234855969:234856226:234858592:234858790 | 234855969:234856226 | ENSG00000144481.12 | ENST00000444298.1,ENST00000433712.2 |
| exon_skip_335068 | 2 | 234873271:234873401:234875253:234875399:234878338:234878425 | 234875253:234875399 | ENSG00000144481.12 | ENST00000324695.4 |
| exon_skip_335071 | 2 | 234875278:234875399:234878338:234878451:234878853:234879070 | 234878338:234878451 | ENSG00000144481.12 | ENST00000490797.1,ENST00000324695.4 |
| exon_skip_335074 | 2 | 234890451:234890559:234891696:234891868:234894331:234894439 | 234891696:234891868 | ENSG00000144481.12 | ENST00000444298.1,ENST00000477103.1,ENST00000324695.4,ENST00000456930.1,ENST00000433712.2 |
| exon_skip_335075 | 2 | 234890451:234890559:234891696:234891995:234894331:234894439 | 234891696:234891995 | ENSG00000144481.12 | ENST00000439148.1 |
| exon_skip_335078 | 2 | 234916713:234916747:234923205:234923298:234925942:234925973 | 234923205:234923298 | ENSG00000144481.12 | ENST00000444298.1,ENST00000439148.1,ENST00000324695.4,ENST00000433712.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TRPM8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_335062 | 2 | 234835182:234835299:234839312:234839386:234845996:234846094 | 234839312:234839386 | ENSG00000144481.12 | ENST00000324695.4,ENST00000444298.1,ENST00000433712.2 |
| exon_skip_335068 | 2 | 234873271:234873401:234875253:234875399:234878338:234878425 | 234875253:234875399 | ENSG00000144481.12 | ENST00000324695.4 |
| exon_skip_335074 | 2 | 234890451:234890559:234891696:234891868:234894331:234894439 | 234891696:234891868 | ENSG00000144481.12 | ENST00000324695.4,ENST00000444298.1,ENST00000433712.2,ENST00000456930.1,ENST00000477103.1 |
| exon_skip_335075 | 2 | 234890451:234890559:234891696:234891995:234894331:234894439 | 234891696:234891995 | ENSG00000144481.12 | ENST00000439148.1 |
| exon_skip_335078 | 2 | 234916713:234916747:234923205:234923298:234925942:234925973 | 234923205:234923298 | ENSG00000144481.12 | ENST00000324695.4,ENST00000444298.1,ENST00000433712.2,ENST00000439148.1 |
| 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 TRPM8 |
| 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 |
| ENST00000324695 | 234923205 | 234923298 | 3UTR-3CDS |
| ENST00000324695 | 234839312 | 234839386 | Frame-shift |
| ENST00000324695 | 234875253 | 234875399 | Frame-shift |
| ENST00000324695 | 234878338 | 234878451 | Frame-shift |
| ENST00000324695 | 234891696 | 234891868 | 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 |
| ENST00000324695 | 234923205 | 234923298 | 3UTR-3CDS |
| ENST00000324695 | 234839312 | 234839386 | Frame-shift |
| ENST00000324695 | 234875253 | 234875399 | Frame-shift |
| ENST00000324695 | 234891696 | 234891868 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TRPM8 |
| 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 TRPM8 |
| - 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_335074 | 234891697 | 234891868 | 234891805 | 234891805 | Frame_Shift_Del | T | - | p.F900fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_335075 | 234891697 | 234891995 | 234891805 | 234891805 | Frame_Shift_Del | T | - | p.F900fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_335078 | 234923206 | 234923298 | 234923251 | 234923251 | Frame_Shift_Del | A | - | p.K1104fs |
| ESCA | TCGA-LN-A5U7-01 | exon_skip_335071 | 234878339 | 234878451 | 234878354 | 234878354 | Nonsense_Mutation | C | T | p.Q681X |
| BRCA | TCGA-BH-A0DS-01 | exon_skip_335071 | 234878339 | 234878451 | 234878392 | 234878392 | Nonsense_Mutation | G | A | p.W693* |
| - 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 |
| CHP134_AUTONOMIC_GANGLIA | 234839313 | 234839386 | 234839358 | 234839358 | Missense_Mutation | G | T | p.V55F |
| HEC251_ENDOMETRIUM | 234839313 | 234839386 | 234839374 | 234839374 | Missense_Mutation | A | G | p.D60G |
| HEC108_ENDOMETRIUM | 234875254 | 234875399 | 234875382 | 234875382 | Missense_Mutation | G | A | p.A670T |
| KATOIII_STOMACH | 234878339 | 234878451 | 234878346 | 234878346 | Missense_Mutation | T | C | p.L678P |
| NCIH2009_LUNG | 234878339 | 234878451 | 234878408 | 234878408 | Missense_Mutation | C | G | p.L699V |
| EVSAT_BREAST | 234891697 | 234891995 | 234891703 | 234891703 | Missense_Mutation | G | C | p.D866H |
| EVSAT_BREAST | 234891697 | 234891868 | 234891703 | 234891703 | Missense_Mutation | G | C | p.D866H |
| NCIH1048_LUNG | 234891697 | 234891995 | 234891706 | 234891706 | Missense_Mutation | G | A | p.V867M |
| NCIH1048_LUNG | 234891697 | 234891868 | 234891706 | 234891706 | Missense_Mutation | G | A | p.V867M |
| NCIH2286_LUNG | 234891697 | 234891995 | 234891757 | 234891757 | Missense_Mutation | G | T | p.A884S |
| NCIH2286_LUNG | 234891697 | 234891868 | 234891757 | 234891757 | Missense_Mutation | G | T | p.A884S |
| NCIH250_LUNG | 234891697 | 234891995 | 234891796 | 234891796 | Missense_Mutation | A | T | p.R897W |
| NCIH250_LUNG | 234891697 | 234891868 | 234891796 | 234891796 | Missense_Mutation | A | T | p.R897W |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 234923206 | 234923298 | 234923234 | 234923234 | Missense_Mutation | A | C | p.E1098A |
| DU145_PROSTATE | 234839313 | 234839386 | 234839352 | 234839352 | Nonsense_Mutation | G | T | p.E53* |
| SNUC2A_LARGE_INTESTINE | 234875254 | 234875399 | 234875255 | 234875255 | Splice_Site | G | A | p.E627E |
| SNUC2B_LARGE_INTESTINE | 234875254 | 234875399 | 234875255 | 234875255 | Splice_Site | G | A | p.E627E |
| NCIH1930_LUNG | 234878339 | 234878451 | 234878450 | 234878450 | Splice_Site | A | T | p.R713W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TRPM8 |
| 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 TRPM8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TRPM8 |
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RelatedDrugs for TRPM8 |
| 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 |
| Q7Z2W7 | DB01744 | Camphor | Transient receptor potential cation channel subfamily M member 8 | small molecule | approved | |
| Q7Z2W7 | DB09061 | Cannabidiol | Transient receptor potential cation channel subfamily M member 8 | small molecule | approved|investigational |
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RelatedDiseases for TRPM8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TRPM8 | C0149931 | Migraine Disorders | 1 | CTD_human |
| TRPM8 | C0338480 | Common Migraine | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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