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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for CNIH3 |
 Gene summary |
| Gene information | Gene symbol | CNIH3 | Gene ID | 149111 |
| Gene name | cornichon family AMPA receptor auxiliary protein 3 | |
| Synonyms | CNIH-3 | |
| Cytomap | 1q42.12 | |
| Type of gene | protein-coding | |
| Description | protein cornichon homolog 3cornichon homolog 3 | |
| Modification date | 20200313 | |
| UniProtAcc | Q8TBE1, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CNIH3 | GO:2000311 | regulation of AMPA receptor activity | 20805473 |
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Gene structures and expression levels for CNIH3 |
| 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. |
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ENSG00000143786
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000496372.1 | CNIH3-212:lncRNA:CNIH3 | 2.598421e+00 | -1.518648e+00 | 8.022932e-06 | 8.777413e-05 |
| 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 CNIH3 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_101164 | chr1 | 224515862:224515876:224546829:224546939:224566199:224566264 | 224546829:224546939 |
| exon_skip_127193 | chr1 | 224583164:224583267:224587166:224587420:224588361:224588492 | 224587166:224587420 |
| exon_skip_16293 | chr1 | 224680958:224681026:224684796:224684843:224730462:224730574 | 224684796:224684843 |
| exon_skip_180307 | chr1 | 224566199:224566264:224583164:224583267:224680958:224681026 | 224583164:224583267 |
| exon_skip_200941 | chr1 | 224434925:224435187:224515741:224515876:224521000:224521221 | 224515741:224515876 |
| exon_skip_205413 | chr1 | 224684796:224684843:224730462:224730574:224734563:224734706 | 224730462:224730574 |
| exon_skip_239996 | chr1 | 224434925:224435187:224513781:224513936:224515741:224515876 | 224513781:224513936 |
| exon_skip_37033 | chr1 | 224515862:224515876:224521000:224521327:224536936:224536981 | 224521000:224521327 |
| 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 CNIH3 |
| 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 |
| ENST00000272133 | 224730462 | 224730574 | Frame-shift |
| ENST00000272133 | 224684796 | 224684843 | 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 |
| ENST00000272133 | 224730462 | 224730574 | Frame-shift |
| ENST00000272133 | 224684796 | 224684843 | 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 |
| ENST00000272133 | 224730462 | 224730574 | Frame-shift |
| ENST00000272133 | 224684796 | 224684843 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CNIH3 |
p-ENSG00000143786_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 |
| ENST00000272133 | 2575 | 160 | 224684796 | 224684843 | 1034 | 1080 | 50 | 66 |
| 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 |
| ENST00000272133 | 2575 | 160 | 224684796 | 224684843 | 1034 | 1080 | 50 | 66 |
| 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 |
| ENST00000272133 | 2575 | 160 | 224684796 | 224684843 | 1034 | 1080 | 50 | 66 |
| 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 |
| Q8TBE1 | 50 | 66 | 1 | 160 | Chain | ID=PRO_0000122228;Note=Protein cornichon homolog 3 |
| Q8TBE1 | 50 | 66 | 32 | 72 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q8TBE1 | 50 | 66 | 1 | 160 | Chain | ID=PRO_0000122228;Note=Protein cornichon homolog 3 |
| Q8TBE1 | 50 | 66 | 32 | 72 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q8TBE1 | 50 | 66 | 1 | 160 | Chain | ID=PRO_0000122228;Note=Protein cornichon homolog 3 |
| Q8TBE1 | 50 | 66 | 32 | 72 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CNIH3 |
| 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 CNIH3 |
| - 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 CNIH3 |
| 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 CNIH3 |
| 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 CNIH3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CNIH3 |
| 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 CNIH3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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