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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 TRPC6 |
 Gene summary |
| Gene information | Gene symbol | TRPC6 | Gene ID | 7225 |
| Gene name | transient receptor potential cation channel subfamily C member 6 | |
| Synonyms | FSGS2|TRP6 | |
| Cytomap | 11q22.1 | |
| Type of gene | protein-coding | |
| Description | short transient receptor potential channel 6TRP-6focal segmental glomerulosclerosis 2transient receptor protein 6 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y210 | |
| Context | PubMed: TRPC6 [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 |
| TRPC6 | GO:0032414 | positive regulation of ion transmembrane transporter activity | 10998353 |
| TRPC6 | GO:0051928 | positive regulation of calcium ion transport | 10998353 |
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Exon skipping events across known transcript of Ensembl for TRPC6 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 TRPC6 |
| 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 TRPC6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77026 | 11 | 101325748:101325832:101340157:101340232:101341913:101342117 | 101340157:101340232 | ENSG00000137672.8 | ENST00000348423.4,ENST00000344327.3,ENST00000532133.1,ENST00000360497.4 |
| exon_skip_77028 | 11 | 101342867:101343063:101344239:101344504:101347031:101347265 | 101344239:101344504 | ENSG00000137672.8 | ENST00000348423.4,ENST00000344327.3,ENST00000360497.4 |
| exon_skip_77030 | 11 | 101344239:101344504:101347031:101347265:101353679:101353896 | 101347031:101347265 | ENSG00000137672.8 | ENST00000348423.4,ENST00000344327.3,ENST00000360497.4 |
| exon_skip_77032 | 11 | 101353679:101353896:101359667:101359832:101362286:101362469 | 101359667:101359832 | ENSG00000137672.8 | ENST00000344327.3,ENST00000532133.1 |
| exon_skip_77035 | 11 | 101353679:101353896:101362286:101362469:101374754:101374821 | 101362286:101362469 | ENSG00000137672.8 | ENST00000360497.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TRPC6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77026 | 11 | 101325748:101325832:101340157:101340232:101341913:101342117 | 101340157:101340232 | ENSG00000137672.8 | ENST00000344327.3,ENST00000532133.1,ENST00000348423.4,ENST00000360497.4 |
| exon_skip_77028 | 11 | 101342867:101343063:101344239:101344504:101347031:101347265 | 101344239:101344504 | ENSG00000137672.8 | ENST00000344327.3,ENST00000348423.4,ENST00000360497.4 |
| exon_skip_77030 | 11 | 101344239:101344504:101347031:101347265:101353679:101353896 | 101347031:101347265 | ENSG00000137672.8 | ENST00000344327.3,ENST00000348423.4,ENST00000360497.4 |
| exon_skip_77032 | 11 | 101353679:101353896:101359667:101359832:101362286:101362469 | 101359667:101359832 | ENSG00000137672.8 | ENST00000344327.3,ENST00000532133.1 |
| exon_skip_77035 | 11 | 101353679:101353896:101362286:101362469:101374754:101374821 | 101362286:101362469 | ENSG00000137672.8 | ENST00000360497.4 |
| 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 TRPC6 |
| 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 |
| ENST00000344327 | 101344239 | 101344504 | Frame-shift |
| ENST00000344327 | 101340157 | 101340232 | In-frame |
| ENST00000344327 | 101347031 | 101347265 | In-frame |
| ENST00000344327 | 101359667 | 101359832 | 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 |
| ENST00000344327 | 101344239 | 101344504 | Frame-shift |
| ENST00000344327 | 101340157 | 101340232 | In-frame |
| ENST00000344327 | 101347031 | 101347265 | In-frame |
| ENST00000344327 | 101359667 | 101359832 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TRPC6 |
| 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 |
| ENST00000344327 | 4629 | 931 | 101359667 | 101359832 | 1554 | 1718 | 376 | 431 |
| ENST00000344327 | 4629 | 931 | 101347031 | 101347265 | 1936 | 2169 | 503 | 581 |
| ENST00000344327 | 4629 | 931 | 101340157 | 101340232 | 2835 | 2909 | 803 | 828 |
| 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 |
| ENST00000344327 | 4629 | 931 | 101359667 | 101359832 | 1554 | 1718 | 376 | 431 |
| ENST00000344327 | 4629 | 931 | 101347031 | 101347265 | 1936 | 2169 | 503 | 581 |
| ENST00000344327 | 4629 | 931 | 101340157 | 101340232 | 2835 | 2909 | 803 | 828 |
| 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 |
| Q9Y210 | 376 | 431 | 316 | 431 | Alternative sequence | ID=VSP_006572;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10816590;Dbxref=PMID:10816590 |
| Q9Y210 | 376 | 431 | 377 | 431 | Alternative sequence | ID=VSP_006573;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10816590;Dbxref=PMID:10816590 |
| Q9Y210 | 376 | 431 | 1 | 931 | Chain | ID=PRO_0000215322;Note=Short transient receptor potential channel 6 |
| Q9Y210 | 376 | 431 | 395 | 395 | Natural variant | ID=VAR_079789;Note=In FSGS2%3B unknown pathological significance%3B requires 2 nucleotide substitutions%3B decreases calcium ion transport. L->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21511817,ECO:0000269|PubMed:26892346;Dbxref= |
| Q9Y210 | 376 | 431 | 404 | 404 | Natural variant | ID=VAR_061861;Note=Polymorphism%3B increases calcium ion transport. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19936226,ECO:0000269|PubMed:21511817,ECO:0000269|PubMed:26892346;Dbxref=dbSNP:rs36111323,PMID:19936226,P |
| Q9Y210 | 376 | 431 | 1 | 438 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y210 | 503 | 581 | 1 | 931 | Chain | ID=PRO_0000215322;Note=Short transient receptor potential channel 6 |
| Q9Y210 | 503 | 581 | 561 | 561 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12970363;Dbxref=PMID:12970363 |
| Q9Y210 | 503 | 581 | 561 | 561 | Mutagenesis | Note=Constitutively activates channel. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12970363;Dbxref=PMID:12970363 |
| Q9Y210 | 503 | 581 | 509 | 521 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y210 | 503 | 581 | 543 | 592 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y210 | 503 | 581 | 488 | 508 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y210 | 503 | 581 | 522 | 542 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y210 | 803 | 828 | 1 | 931 | Chain | ID=PRO_0000215322;Note=Short transient receptor potential channel 6 |
| Q9Y210 | 803 | 828 | 815 | 815 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18088087;Dbxref=PMID:18088087 |
| Q9Y210 | 803 | 828 | 826 | 827 | Mutagenesis | Note=Decreases calcium ion transport. KK->EE;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26892346;Dbxref=PMID:26892346 |
| Q9Y210 | 803 | 828 | 728 | 931 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9Y210 | 376 | 431 | 316 | 431 | Alternative sequence | ID=VSP_006572;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10816590;Dbxref=PMID:10816590 |
| Q9Y210 | 376 | 431 | 377 | 431 | Alternative sequence | ID=VSP_006573;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10816590;Dbxref=PMID:10816590 |
| Q9Y210 | 376 | 431 | 1 | 931 | Chain | ID=PRO_0000215322;Note=Short transient receptor potential channel 6 |
| Q9Y210 | 376 | 431 | 395 | 395 | Natural variant | ID=VAR_079789;Note=In FSGS2%3B unknown pathological significance%3B requires 2 nucleotide substitutions%3B decreases calcium ion transport. L->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21511817,ECO:0000269|PubMed:26892346;Dbxref= |
| Q9Y210 | 376 | 431 | 404 | 404 | Natural variant | ID=VAR_061861;Note=Polymorphism%3B increases calcium ion transport. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19936226,ECO:0000269|PubMed:21511817,ECO:0000269|PubMed:26892346;Dbxref=dbSNP:rs36111323,PMID:19936226,P |
| Q9Y210 | 376 | 431 | 1 | 438 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y210 | 503 | 581 | 1 | 931 | Chain | ID=PRO_0000215322;Note=Short transient receptor potential channel 6 |
| Q9Y210 | 503 | 581 | 561 | 561 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12970363;Dbxref=PMID:12970363 |
| Q9Y210 | 503 | 581 | 561 | 561 | Mutagenesis | Note=Constitutively activates channel. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12970363;Dbxref=PMID:12970363 |
| Q9Y210 | 503 | 581 | 509 | 521 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y210 | 503 | 581 | 543 | 592 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y210 | 503 | 581 | 488 | 508 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y210 | 503 | 581 | 522 | 542 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y210 | 803 | 828 | 1 | 931 | Chain | ID=PRO_0000215322;Note=Short transient receptor potential channel 6 |
| Q9Y210 | 803 | 828 | 815 | 815 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18088087;Dbxref=PMID:18088087 |
| Q9Y210 | 803 | 828 | 826 | 827 | Mutagenesis | Note=Decreases calcium ion transport. KK->EE;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26892346;Dbxref=PMID:26892346 |
| Q9Y210 | 803 | 828 | 728 | 931 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for TRPC6 |
| - 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-DD-A1EG-01 | exon_skip_77026 | 101340158 | 101340232 | 101340161 | 101340161 | Frame_Shift_Del | T | - | p.K827fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_77030 | 101347032 | 101347265 | 101347222 | 101347222 | Frame_Shift_Del | G | - | p.P518fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_77035 | 101362287 | 101362469 | 101362370 | 101362370 | Frame_Shift_Del | C | - | p.D349fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_77035 | 101362287 | 101362469 | 101362370 | 101362370 | Frame_Shift_Del | C | - | p.D349fs |
| UCEC | TCGA-B5-A11R-01 | exon_skip_77030 | 101347032 | 101347265 | 101347129 | 101347129 | Nonsense_Mutation | C | T | p.W549* |
| SKCM | TCGA-EE-A29L-06 | exon_skip_77030 | 101347032 | 101347265 | 101347198 | 101347198 | Nonsense_Mutation | C | T | p.W526* |
| SKCM | TCGA-EE-A29L-06 | exon_skip_77030 | 101347032 | 101347265 | 101347198 | 101347198 | Nonsense_Mutation | C | T | p.W526X |
| CESC | TCGA-JW-A5VL-01 | exon_skip_77030 | 101347032 | 101347265 | 101347230 | 101347230 | Nonsense_Mutation | G | A | p.Q516* |
| LUAD | TCGA-17-Z028-01 | exon_skip_77032 | 101359668 | 101359832 | 101359687 | 101359687 | Nonsense_Mutation | C | T | p.W425* |
| SKCM | TCGA-FR-A3YO-06 | exon_skip_77035 | 101362287 | 101362469 | 101362289 | 101362289 | Nonsense_Mutation | T | A | p.K376* |
| SKCM | TCGA-FR-A3YO-06 | exon_skip_77035 | 101362287 | 101362469 | 101362289 | 101362289 | Nonsense_Mutation | T | A | p.K376X |
| LUSC | TCGA-37-3789-01 | exon_skip_77035 | 101362287 | 101362469 | 101362388 | 101362388 | Nonsense_Mutation | C | A | p.E343* |
| SKCM | TCGA-DA-A1IC-06 | exon_skip_77026 | 101340158 | 101340232 | 101340233 | 101340233 | Splice_Site | C | T | . |
| HNSC | TCGA-CN-5369-01 | exon_skip_77035 | 101362287 | 101362469 | 101362286 | 101362287 | Splice_Site | - | T | p.K376_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 |
| RERFLCFM_LUNG | 101340158 | 101340232 | 101340196 | 101340196 | Missense_Mutation | G | T | p.H816N |
| MZ7MEL_SKIN | 101340158 | 101340232 | 101340210 | 101340210 | Missense_Mutation | C | T | p.G811E |
| M14_SKIN | 101340158 | 101340232 | 101340211 | 101340211 | Missense_Mutation | C | T | p.G811R |
| HSC2_UPPER_AERODIGESTIVE_TRACT | 101340158 | 101340232 | 101340218 | 101340218 | Missense_Mutation | C | G | p.K808N |
| NCIH2172_LUNG | 101344240 | 101344504 | 101344377 | 101344377 | Missense_Mutation | C | G | p.Q624H |
| NCIH520_LUNG | 101344240 | 101344504 | 101344436 | 101344436 | Missense_Mutation | A | C | p.L605V |
| C80_LARGE_INTESTINE | 101344240 | 101344504 | 101344444 | 101344444 | Missense_Mutation | G | A | p.A602V |
| SARC9371_BONE | 101344240 | 101344504 | 101344457 | 101344457 | Missense_Mutation | G | A | p.L598F |
| MKN7_STOMACH | 101344240 | 101344504 | 101344494 | 101344494 | Missense_Mutation | C | A | p.K585N |
| SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 101347032 | 101347265 | 101347052 | 101347052 | Missense_Mutation | T | G | p.N575T |
| SW948_LARGE_INTESTINE | 101347032 | 101347265 | 101347073 | 101347073 | Missense_Mutation | G | A | p.T568M |
| SW1271_LUNG | 101347032 | 101347265 | 101347149 | 101347149 | Missense_Mutation | C | A | p.A543S |
| KON_UPPER_AERODIGESTIVE_TRACT | 101347032 | 101347265 | 101347170 | 101347170 | Missense_Mutation | T | G | p.I536L |
| HLE_LIVER | 101347032 | 101347265 | 101347173 | 101347173 | Missense_Mutation | C | A | p.A535S |
| OC316_OVARY | 101347032 | 101347265 | 101347198 | 101347198 | Missense_Mutation | C | A | p.W526C |
| HCC1954_BREAST | 101347032 | 101347265 | 101347198 | 101347198 | Missense_Mutation | C | A | p.W526C |
| OC314_OVARY | 101347032 | 101347265 | 101347198 | 101347198 | Missense_Mutation | C | A | p.W526C |
| HCC1954_MATCHED_NORMAL_TISSUE | 101347032 | 101347265 | 101347198 | 101347198 | Missense_Mutation | C | A | p.W526C |
| HEC251_ENDOMETRIUM | 101347032 | 101347265 | 101347238 | 101347238 | Missense_Mutation | A | C | p.I513S |
| HEC108_ENDOMETRIUM | 101347032 | 101347265 | 101347262 | 101347262 | Missense_Mutation | A | G | p.M505T |
| HT115_LARGE_INTESTINE | 101359668 | 101359832 | 101359765 | 101359765 | Missense_Mutation | C | T | p.R399Q |
| NCIH23_LUNG | 101359668 | 101359832 | 101359768 | 101359768 | Missense_Mutation | A | G | p.L398S |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 101359668 | 101359832 | 101359819 | 101359819 | Missense_Mutation | G | A | p.P381L |
| HEC108_ENDOMETRIUM | 101362287 | 101362469 | 101362300 | 101362300 | Missense_Mutation | T | C | p.Y372C |
| MDAMB453_BREAST | 101362287 | 101362469 | 101362333 | 101362333 | Missense_Mutation | G | T | p.P361Q |
| HEC151_ENDOMETRIUM | 101362287 | 101362469 | 101362445 | 101362445 | Nonsense_Mutation | G | A | p.Q324* |
| HEC108_ENDOMETRIUM | 101362287 | 101362469 | 101362287 | 101362287 | Splice_Site | T | - | p.K376fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TRPC6 |
| 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 TRPC6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TRPC6 |
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RelatedDrugs for TRPC6 |
| 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 TRPC6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TRPC6 | C1858915 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 | 3 | CTD_human;UNIPROT |
| TRPC6 | C0004936 | Mental disorders | 1 | CTD_human |
| TRPC6 | C0020564 | Hypertrophy | 1 | CTD_human |
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