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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 GDA |
Gene summary |
Gene information | Gene symbol | GDA | Gene ID | 9615 |
Gene name | guanine deaminase | |
Synonyms | CYPIN|GAH|GUANASE|NEDASIN | |
Cytomap | 9q21.13 | |
Type of gene | protein-coding | |
Description | guanine deaminasecytoplasmic PSD95 interactorguanine aminaseguanine aminohydrolasep51-nedasin | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 32514259(Targeted mass spectrometry to quantify brain-derived cerebrospinal fluid biomarkers in Alzheimer's disease) |
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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Gene structures and expression levels for GDA |
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 |
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 GDA |
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_13994 | chr9 | 72219479:72219506:72223120:72223227:72225677:72225784 | 72223120:72223227 |
exon_skip_206360 | chr9 | 72247406:72247433:72248272:72248338:72250750:72250841 | 72248272:72248338 |
exon_skip_222743 | chr9 | 72247406:72247433:72248272:72248406:72250750:72250841 | 72248272:72248406 |
exon_skip_234600 | chr9 | 72202571:72202742:72210687:72210774:72213886:72213991 | 72210687:72210774 |
exon_skip_267560 | chr9 | 72227997:72228040:72231114:72231181:72241152:72241298 | 72231114:72231181 |
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 GDA |
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 |
ENST00000358399 | 72210687 | 72210774 | Frame-shift |
ENST00000358399 | 72231114 | 72231181 | Frame-shift |
ENST00000358399 | 72223120 | 72223227 | 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 |
ENST00000358399 | 72231114 | 72231181 | Frame-shift |
ENST00000358399 | 72223120 | 72223227 | 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 |
ENST00000358399 | 72223120 | 72223227 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GDA |
p-ENSG00000119125_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 |
ENST00000358399 | 5357 | 454 | 72223120 | 72223227 | 701 | 807 | 202 | 238 |
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 |
ENST00000358399 | 5357 | 454 | 72223120 | 72223227 | 701 | 807 | 202 | 238 |
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 |
ENST00000358399 | 5357 | 454 | 72223120 | 72223227 | 701 | 807 | 202 | 238 |
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 |
Q9Y2T3 | 202 | 238 | 204 | 208 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
Q9Y2T3 | 202 | 238 | 210 | 212 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
Q9Y2T3 | 202 | 238 | 237 | 242 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
Q9Y2T3 | 202 | 238 | 1 | 454 | Chain | ID=PRO_0000122298;Note=Guanine deaminase |
Q9Y2T3 | 202 | 238 | 220 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
Q9Y2T3 | 202 | 238 | 213 | 214 | Region | Note=Substrate binding;Ontology_term=ECO:0000244,ECO:0000305;evidence=ECO:0000244|PDB:2UZ9,ECO:0000305|PubMed:22662200;Dbxref=PMID:22662200 |
Q9Y2T3 | 202 | 238 | 215 | 217 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
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 |
Q9Y2T3 | 202 | 238 | 204 | 208 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
Q9Y2T3 | 202 | 238 | 210 | 212 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
Q9Y2T3 | 202 | 238 | 237 | 242 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
Q9Y2T3 | 202 | 238 | 1 | 454 | Chain | ID=PRO_0000122298;Note=Guanine deaminase |
Q9Y2T3 | 202 | 238 | 220 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
Q9Y2T3 | 202 | 238 | 213 | 214 | Region | Note=Substrate binding;Ontology_term=ECO:0000244,ECO:0000305;evidence=ECO:0000244|PDB:2UZ9,ECO:0000305|PubMed:22662200;Dbxref=PMID:22662200 |
Q9Y2T3 | 202 | 238 | 215 | 217 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
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 |
Q9Y2T3 | 202 | 238 | 204 | 208 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
Q9Y2T3 | 202 | 238 | 210 | 212 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
Q9Y2T3 | 202 | 238 | 237 | 242 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
Q9Y2T3 | 202 | 238 | 1 | 454 | Chain | ID=PRO_0000122298;Note=Guanine deaminase |
Q9Y2T3 | 202 | 238 | 220 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
Q9Y2T3 | 202 | 238 | 213 | 214 | Region | Note=Substrate binding;Ontology_term=ECO:0000244,ECO:0000305;evidence=ECO:0000244|PDB:2UZ9,ECO:0000305|PubMed:22662200;Dbxref=PMID:22662200 |
Q9Y2T3 | 202 | 238 | 215 | 217 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4AQL |
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3'-UTR located exon skipping events that lost miRNA binding sites in GDA |
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 GDA |
- 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 GDA |
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 GDA |
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 GDA |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for GDA |
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 GDA |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |