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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 GUCY1A2 |
 Gene summary |
| Gene information | Gene symbol | GUCY1A2 | Gene ID | 2977 |
| Gene name | guanylate cyclase 1 soluble subunit alpha 2 | |
| Synonyms | GC-SA2|GUC1A2 | |
| Cytomap | 11q22.3 | |
| Type of gene | protein-coding | |
| Description | guanylate cyclase soluble subunit alpha-2GCS-alpha-2guanylate cyclase 1, soluble, alpha 2 | |
| Modification date | 20180522 | |
| UniProtAcc | P33402 | |
| Context | PubMed: GUCY1A2 [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 GUCY1A2 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 GUCY1A2 |
| 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 GUCY1A2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77208 | 11 | 106558100:106558482:106579237:106579392:106647164:106647308 | 106579237:106579392 | ENSG00000152402.6 | ENST00000347596.2,ENST00000526355.2 |
| exon_skip_77209 | 11 | 106579237:106579392:106617276:106617369:106647164:106647308 | 106617276:106617369 | ENSG00000152402.6 | ENST00000282249.2 |
| exon_skip_77210 | 11 | 106647164:106647308:106680718:106681204:106810185:106810904 | 106680718:106681204 | ENSG00000152402.6 | ENST00000282249.2,ENST00000526355.2 |
| exon_skip_77211 | 11 | 106680718:106681204:106807375:106807438:106810185:106810904 | 106807375:106807438 | ENSG00000152402.6 | ENST00000347596.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GUCY1A2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77208 | 11 | 106558100:106558482:106579237:106579392:106647164:106647308 | 106579237:106579392 | ENSG00000152402.6 | ENST00000526355.2,ENST00000347596.2 |
| exon_skip_77209 | 11 | 106579237:106579392:106617276:106617369:106647164:106647308 | 106617276:106617369 | ENSG00000152402.6 | ENST00000282249.2 |
| exon_skip_77210 | 11 | 106647164:106647308:106680718:106681204:106810185:106810904 | 106680718:106681204 | ENSG00000152402.6 | ENST00000526355.2,ENST00000282249.2 |
| exon_skip_77211 | 11 | 106680718:106681204:106807375:106807438:106810185:106810904 | 106807375:106807438 | ENSG00000152402.6 | ENST00000347596.2 |
| 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 GUCY1A2 |
| 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 |
| ENST00000526355 | 106579237 | 106579392 | Frame-shift |
| ENST00000526355 | 106680718 | 106681204 | 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 |
| ENST00000526355 | 106579237 | 106579392 | Frame-shift |
| ENST00000526355 | 106680718 | 106681204 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GUCY1A2 |
| 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 |
| ENST00000526355 | 16222 | 732 | 106680718 | 106681204 | 1676 | 2161 | 402 | 564 |
| 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 |
| ENST00000526355 | 16222 | 732 | 106680718 | 106681204 | 1676 | 2161 | 402 | 564 |
| 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 |
| P33402 | 402 | 564 | 402 | 402 | Alternative sequence | ID=VSP_054154;Note=In isoform 3. K->KSKHVTEGHLTQLSVAGFNSLE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P33402 | 402 | 564 | 1 | 732 | Chain | ID=PRO_0000074113;Note=Guanylate cyclase soluble subunit alpha-2 |
| P33402 | 402 | 564 | 521 | 648 | Domain | Note=Guanylate cyclase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00099 |
| 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 |
| P33402 | 402 | 564 | 402 | 402 | Alternative sequence | ID=VSP_054154;Note=In isoform 3. K->KSKHVTEGHLTQLSVAGFNSLE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P33402 | 402 | 564 | 1 | 732 | Chain | ID=PRO_0000074113;Note=Guanylate cyclase soluble subunit alpha-2 |
| P33402 | 402 | 564 | 521 | 648 | Domain | Note=Guanylate cyclase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00099 |
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SNVs in the skipped exons for GUCY1A2 |
| - 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-NJ-A4YQ-01 | exon_skip_77210 | 106680719 | 106681204 | 106680934 | 106680934 | Frame_Shift_Del | G | - | p.L494fs |
| ESCA | TCGA-IG-A4QS-01 | exon_skip_77210 | 106680719 | 106681204 | 106680972 | 106680972 | Frame_Shift_Del | T | - | p.H480fs |
| ESCA | TCGA-V5-A7RB-01 | exon_skip_77208 | 106579238 | 106579392 | 106579283 | 106579283 | Nonsense_Mutation | G | T | p.S680X |
| SKCM | TCGA-D3-A8GI-06 | exon_skip_77209 | 106617277 | 106617369 | 106617327 | 106617327 | Nonsense_Mutation | G | A | p.Q627* |
| LUAD | TCGA-50-6590-01 | exon_skip_77210 | 106680719 | 106681204 | 106680949 | 106680949 | Nonsense_Mutation | T | A | p.K488* |
| HNSC | TCGA-CN-5367-01 | exon_skip_77210 | 106680719 | 106681204 | 106681089 | 106681089 | Nonsense_Mutation | G | C | p.S441* |
| LUSC | TCGA-63-5128-01 | exon_skip_77210 | 106680719 | 106681204 | 106681206 | 106681206 | Splice_Site | T | C | p.V403_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 |
| HEC59_ENDOMETRIUM | 106579238 | 106579392 | 106579265 | 106579265 | Missense_Mutation | C | T | p.R655H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 106579238 | 106579392 | 106579265 | 106579265 | Missense_Mutation | C | T | p.R655H |
| 639V_URINARY_TRACT | 106579238 | 106579392 | 106579271 | 106579271 | Missense_Mutation | G | T | p.P653H |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 106579238 | 106579392 | 106579280 | 106579280 | Missense_Mutation | C | A | p.G650V |
| CW2_LARGE_INTESTINE | 106579238 | 106579392 | 106579284 | 106579284 | Missense_Mutation | A | T | p.S649T |
| EW7_BONE | 106579238 | 106579392 | 106579340 | 106579340 | Missense_Mutation | C | T | p.R630Q |
| DU145_PROSTATE | 106579238 | 106579392 | 106579347 | 106579347 | Missense_Mutation | C | A | p.G628W |
| G402_SOFT_TISSUE | 106579238 | 106579392 | 106579365 | 106579365 | Missense_Mutation | C | G | p.V622L |
| LOVO_LARGE_INTESTINE | 106680719 | 106681204 | 106680789 | 106680789 | Missense_Mutation | T | C | p.Q541R |
| GP2D_LARGE_INTESTINE | 106680719 | 106681204 | 106680814 | 106680814 | Missense_Mutation | T | A | p.I533L |
| NCIH2291_LUNG | 106680719 | 106681204 | 106680819 | 106680819 | Missense_Mutation | G | T | p.T531K |
| SNU81_LARGE_INTESTINE | 106680719 | 106681204 | 106680953 | 106680953 | Missense_Mutation | C | A | p.E486D |
| HEC251_ENDOMETRIUM | 106680719 | 106681204 | 106681024 | 106681024 | Missense_Mutation | C | A | p.D463Y |
| NCIH838_LUNG | 106680719 | 106681204 | 106681065 | 106681065 | Missense_Mutation | G | T | p.T449N |
| HEC6_ENDOMETRIUM | 106680719 | 106681204 | 106681066 | 106681066 | Missense_Mutation | T | C | p.T449A |
| WM88_SKIN | 106680719 | 106681204 | 106681093 | 106681093 | Missense_Mutation | G | A | p.L440F |
| NCIH2073_LUNG | 106680719 | 106681204 | 106681109 | 106681109 | Missense_Mutation | C | A | p.M434I |
| NCIH1993_LUNG | 106680719 | 106681204 | 106681109 | 106681109 | Missense_Mutation | C | A | p.M434I |
| SW982_SOFT_TISSUE | 106680719 | 106681204 | 106681117 | 106681117 | Missense_Mutation | C | T | p.E432K |
| QIMRWIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 106680719 | 106681204 | 106681128 | 106681128 | Missense_Mutation | T | C | p.D428G |
| SW48_LARGE_INTESTINE | 106680719 | 106681204 | 106681140 | 106681140 | Missense_Mutation | G | A | p.S424F |
| NCIH716_LARGE_INTESTINE | 106680719 | 106681204 | 106681162 | 106681162 | Missense_Mutation | T | A | p.N417Y |
| OC316_OVARY | 106680719 | 106681204 | 106681171 | 106681171 | Missense_Mutation | G | A | p.P414S |
| OC314_OVARY | 106680719 | 106681204 | 106681171 | 106681171 | Missense_Mutation | G | A | p.P414S |
| MCC13_SKIN | 106680719 | 106681204 | 106681181 | 106681181 | Missense_Mutation | C | T | p.M410I |
| NCIH1339_LUNG | 106680719 | 106681204 | 106681200 | 106681200 | Missense_Mutation | A | T | p.M404K |
| NUGC4_STOMACH | 106680719 | 106681204 | 106680805 | 106680805 | Nonsense_Mutation | G | A | p.Q536* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GUCY1A2 |
| 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 GUCY1A2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GUCY1A2 |
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RelatedDrugs for GUCY1A2 |
| 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 |
| P33402 | DB00435 | Nitric Oxide | Guanylate cyclase soluble subunit alpha-2 | small molecule | approved | |
| P33402 | DB01020 | Isosorbide Mononitrate | Guanylate cyclase soluble subunit alpha-2 | small molecule | approved | |
| P33402 | DB08931 | Riociguat | Guanylate cyclase soluble subunit alpha-2 | small molecule | approved | |
| P33402 | DB09241 | Methylene blue | Guanylate cyclase soluble subunit alpha-2 | small molecule | approved|investigational | |
| P33402 | DB09282 | Molsidomine | Guanylate cyclase soluble subunit alpha-2 | small molecule | approved|investigational | |
| P33402 | DB13170 | Plecanatide | Guanylate cyclase soluble subunit alpha-2 | small molecule | approved|investigational |
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RelatedDiseases for GUCY1A2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GUCY1A2 | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
| GUCY1A2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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