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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 GPR143 |
 Gene summary |
| Gene information | Gene symbol | GPR143 | Gene ID | 4935 |
| Gene name | G protein-coupled receptor 143 | |
| Synonyms | NYS6|OA1 | |
| Cytomap | Xp22.2 | |
| Type of gene | protein-coding | |
| Description | G-protein coupled receptor 143ocular albinism 1ocular albinism type 1 protein | |
| Modification date | 20180523 | |
| UniProtAcc | P51810 | |
| Context | PubMed: GPR143 [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 |
| GPR143 | GO:0007186 | G-protein coupled receptor signaling pathway | 16524428 |
| GPR143 | GO:0032400 | melanosome localization | 19717472 |
| GPR143 | GO:0032402 | melanosome transport | 19717472 |
| GPR143 | GO:0035584 | calcium-mediated signaling using intracellular calcium source | 18828673 |
| GPR143 | GO:0048015 | phosphatidylinositol-mediated signaling | 16524428 |
| GPR143 | GO:0050848 | regulation of calcium-mediated signaling | 18828673 |
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Exon skipping events across known transcript of Ensembl for GPR143 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 GPR143 |
| 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 GPR143 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513850 | X | 9693453:9693880:9707524:9707759:9709377:9709495 | 9707524:9707759 | ENSG00000101850.8 | ENST00000380929.2,ENST00000467482.1 |
| exon_skip_513862 | X | 9709377:9709495:9711604:9711713:9714083:9714193 | 9711604:9711713 | ENSG00000101850.8 | ENST00000447366.1,ENST00000380929.2,ENST00000467482.1 |
| exon_skip_513867 | X | 9714083:9714193:9716613:9716706:9727371:9727434 | 9716613:9716706 | ENSG00000101850.8 | ENST00000447366.1,ENST00000380929.2,ENST00000467482.1,ENST00000431126.1 |
| exon_skip_513876 | X | 9716613:9716706:9727371:9727466:9728756:9728866 | 9727371:9727466 | ENSG00000101850.8 | ENST00000447366.1,ENST00000380929.2,ENST00000467482.1,ENST00000431126.1 |
| exon_skip_513885 | X | 9727371:9727466:9728756:9728866:9733607:9734004 | 9728756:9728866 | ENSG00000101850.8 | ENST00000380929.2 |
| exon_skip_513888 | X | 9727371:9727466:9728756:9728866:9754281:9754337 | 9728756:9728866 | ENSG00000101850.8 | ENST00000447366.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GPR143 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513850 | X | 9693453:9693880:9707524:9707759:9709377:9709495 | 9707524:9707759 | ENSG00000101850.8 | ENST00000467482.1,ENST00000380929.2 |
| exon_skip_513862 | X | 9709377:9709495:9711604:9711713:9714083:9714193 | 9711604:9711713 | ENSG00000101850.8 | ENST00000467482.1,ENST00000380929.2,ENST00000447366.1 |
| exon_skip_513867 | X | 9714083:9714193:9716613:9716706:9727371:9727434 | 9716613:9716706 | ENSG00000101850.8 | ENST00000467482.1,ENST00000380929.2,ENST00000447366.1,ENST00000431126.1 |
| exon_skip_513876 | X | 9716613:9716706:9727371:9727466:9728756:9728866 | 9727371:9727466 | ENSG00000101850.8 | ENST00000467482.1,ENST00000380929.2,ENST00000447366.1,ENST00000431126.1 |
| exon_skip_513885 | X | 9727371:9727466:9728756:9728866:9733607:9734004 | 9728756:9728866 | ENSG00000101850.8 | ENST00000380929.2 |
| 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 GPR143 |
| 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 |
| ENST00000467482 | 9707524 | 9707759 | Frame-shift |
| ENST00000467482 | 9711604 | 9711713 | Frame-shift |
| ENST00000467482 | 9727371 | 9727466 | Frame-shift |
| ENST00000467482 | 9716613 | 9716706 | 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 |
| ENST00000467482 | 9707524 | 9707759 | Frame-shift |
| ENST00000467482 | 9711604 | 9711713 | Frame-shift |
| ENST00000467482 | 9727371 | 9727466 | Frame-shift |
| ENST00000467482 | 9716613 | 9716706 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GPR143 |
| 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 |
| ENST00000467482 | 1779 | 404 | 9716613 | 9716706 | 603 | 695 | 152 | 182 |
| 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 |
| ENST00000467482 | 1779 | 404 | 9716613 | 9716706 | 603 | 695 | 152 | 182 |
| 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 |
| P51810 | 152 | 182 | 1 | 404 | Chain | ID=PRO_0000195086;Note=G-protein coupled receptor 143 |
| P51810 | 152 | 182 | 152 | 152 | Natural variant | ID=VAR_005515;Note=In OA1. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9529334;Dbxref=dbSNP:rs58933950,PMID:9529334 |
| P51810 | 152 | 182 | 166 | 166 | Natural variant | ID=VAR_063271;Note=In OA1. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16646960;Dbxref=PMID:16646960 |
| P51810 | 152 | 182 | 173 | 173 | Natural variant | ID=VAR_005516;Note=In OA1%3B results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. A->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11115845,ECO:0000269| |
| P51810 | 152 | 182 | 171 | 191 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P51810 | 152 | 182 | 150 | 170 | Transmembrane | Note=Helical%3B Name%3D4;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 |
| P51810 | 152 | 182 | 1 | 404 | Chain | ID=PRO_0000195086;Note=G-protein coupled receptor 143 |
| P51810 | 152 | 182 | 152 | 152 | Natural variant | ID=VAR_005515;Note=In OA1. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9529334;Dbxref=dbSNP:rs58933950,PMID:9529334 |
| P51810 | 152 | 182 | 166 | 166 | Natural variant | ID=VAR_063271;Note=In OA1. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16646960;Dbxref=PMID:16646960 |
| P51810 | 152 | 182 | 173 | 173 | Natural variant | ID=VAR_005516;Note=In OA1%3B results in altered glycosylation pattern and subcellular localization consistent with protein retention in the endoplasmic reticulum. A->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11115845,ECO:0000269| |
| P51810 | 152 | 182 | 171 | 191 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P51810 | 152 | 182 | 150 | 170 | Transmembrane | Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for GPR143 |
| - 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. |
GPR143_SKCM_exon_skip_513862_psi_boxplot.png |
| - 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 |
| GBM | TCGA-06-0145-01 | exon_skip_513862 | 9711605 | 9711713 | 9711643 | 9711643 | Frame_Shift_Del | C | - | p.K243fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_513876 | 9727372 | 9727466 | 9727421 | 9727421 | Frame_Shift_Del | A | - | p.C136fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_513876 | 9727372 | 9727466 | 9727435 | 9727435 | Frame_Shift_Del | A | - | p.F131fs |
| LUAD | TCGA-53-7624-01 | exon_skip_513888 exon_skip_513885 | 9728757 | 9728866 | 9728837 | 9728837 | Nonsense_Mutation | C | A | p.G94* |
| SKCM | TCGA-ER-A19J-06 | exon_skip_513862 | 9711605 | 9711713 | 9711604 | 9711604 | Splice_Site | C | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-ER-A19J-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_513862 | |
| Skipped exon start: 9711605 | |
| Skipped exon end: 9711713 | |
| Mutation start: 9711604 | |
| Mutation end: 9711604 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: . | |
exon_skip_513862_SKCM_TCGA-ER-A19J-06.png | |
| - 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 |
| NCIH748_LUNG | 9707525 | 9707759 | 9707530 | 9707530 | Missense_Mutation | G | T | p.S372Y |
| SNU175_LARGE_INTESTINE | 9716614 | 9716706 | 9716680 | 9716680 | Missense_Mutation | G | A | p.A161V |
| BCPAP_THYROID | 9728757 | 9728866 | 9728768 | 9728768 | Missense_Mutation | C | T | p.V117M |
| MDAMB436_BREAST | 9728757 | 9728866 | 9728800 | 9728800 | Missense_Mutation | T | C | p.N106S |
| SNUC2A_LARGE_INTESTINE | 9707525 | 9707759 | 9707525 | 9707525 | Splice_Site | C | A | p.G374C |
| SNUC2B_LARGE_INTESTINE | 9707525 | 9707759 | 9707525 | 9707525 | Splice_Site | C | A | p.G374C |
| HCC1954_BREAST | 9728757 | 9728866 | 9728758 | 9728758 | Splice_Site | G | A | p.A120V |
| HCC1954_MATCHED_NORMAL_TISSUE | 9728757 | 9728866 | 9728758 | 9728758 | Splice_Site | G | A | p.A120V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GPR143 |
| 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 GPR143 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GPR143 |
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RelatedDrugs for GPR143 |
| 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 GPR143 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GPR143 | C0342684 | Ocular albinism, type I | 12 | CTD_human;ORPHANET;UNIPROT |
| GPR143 | C3151752 | NYSTAGMUS 6, CONGENITAL, X-LINKED | 1 | CTD_human;UNIPROT |
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