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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for GUCY1B1 |
Gene summary |
Gene information | Gene symbol | GUCY1B1 | Gene ID | 2983 |
Gene name | guanylate cyclase 1 soluble subunit beta 1 | |
Synonyms | GC-S-beta-1|GC-SB3|GUC1B3|GUCB3|GUCSB3|GUCY1B3 | |
Cytomap | 4q32.1 | |
Type of gene | protein-coding | |
Description | guanylate cyclase soluble subunit beta-1GCS-beta-1GCS-beta-3guanylate cyclase 1, soluble, beta 3guanylate cyclase soluble subunit beta-3soluble guanylate cyclase small subunit | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
GUCY1B1 | GO:0006182 | cGMP biosynthetic process | 23505436 |
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Gene structures and expression levels for GUCY1B1 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000505154.5 | GUCY1B1-204:protein_coding:GUCY1B1 | 3.574355e+01 | 8.365488e-01 | 2.228208e-03 | 1.007585e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GUCY1B1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_102479 | chr4 | 155777524:155777642:155785264:155785329:155789714:155789746 | 155785264:155785329 |
exon_skip_125336 | chr4 | 155777524:155777642:155789714:155789911:155793856:155794086 | 155789714:155789911 |
exon_skip_129984 | chr4 | 155759090:155759143:155759787:155759860:155774968:155774999 | 155759787:155759860 |
exon_skip_136785 | chr4 | 155759113:155759143:155759356:155759541:155759787:155759860 | 155759356:155759541 |
exon_skip_15224 | chr4 | 155802441:155802579:155803624:155803764:155804593:155804747 | 155803624:155803764 |
exon_skip_155066 | chr4 | 155759090:155759143:155759787:155759860:155774968:155775068 | 155759787:155759860 |
exon_skip_177569 | chr4 | 155759090:155759143:155759356:155759541:155759787:155759860 | 155759356:155759541 |
exon_skip_226823 | chr4 | 155759787:155759860:155772602:155772697:155774968:155775068 | 155772602:155772697 |
exon_skip_228671 | chr4 | 155759459:155759541:155759787:155759860:155774968:155775067 | 155759787:155759860 |
exon_skip_263571 | chr4 | 155759113:155759143:155759787:155759860:155774968:155775068 | 155759787:155759860 |
exon_skip_38043 | chr4 | 155759459:155759541:155759787:155759860:155774968:155775068 | 155759787:155759860 |
exon_skip_39127 | chr4 | 155759031:155759143:155759356:155759541:155759787:155759860 | 155759356:155759541 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for GUCY1B1 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000264424 | 155759787 | 155759860 | Frame-shift |
ENST00000264424 | 155789714 | 155789911 | In-frame |
ENST00000264424 | 155803624 | 155803764 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000264424 | 155759787 | 155759860 | Frame-shift |
ENST00000264424 | 155789714 | 155789911 | In-frame |
ENST00000264424 | 155803624 | 155803764 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000264424 | 155759787 | 155759860 | Frame-shift |
ENST00000264424 | 155789714 | 155789911 | In-frame |
ENST00000264424 | 155803624 | 155803764 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GUCY1B1 |
p-ENSG00000061918_img4.png |
Loci of skipped exons in ROSMAP 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 MSBB 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 Mayo 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 ROSMAP. |
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 MSBB. |
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 Mayo. |
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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3'-UTR located exon skipping events that lost miRNA binding sites in GUCY1B1 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for GUCY1B1 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
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AD stage-associated exon skippint events for GUCY1B1 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GUCY1B1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for GUCY1B1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | NUP42 | exon_skip_155066 | 4.375246e-01 | 5.191948e-08 |
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RelatedDrugs for GUCY1B1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for GUCY1B1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |