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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 CNGB1 |
 Gene summary |
| Gene information | Gene symbol | CNGB1 | Gene ID | 1258 |
| Gene name | cyclic nucleotide gated channel subunit beta 1 | |
| Synonyms | CNCG2|CNCG3L|CNCG4|CNG4|CNGB1B|GAR1|GARP|GARP2|RCNC2|RCNCb|RCNCbeta|RP45 | |
| Cytomap | 16q21 | |
| Type of gene | protein-coding | |
| Description | cyclic nucleotide-gated cation channel beta-1CNG channel beta-1CNG-4cyclic nucleotide gated channel beta 1cyclic nucleotide-gated cation channel 4cyclic nucleotide-gated cation channel gammacyclic nucleotide-gated cation channel modulatory subunitg | |
| 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 |
| CNGB1 | GO:0006812 | cation transport | 24164424 |
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Gene structures and expression levels for CNGB1 |
| 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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ENSG00000070729
| 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 CNGB1 |
| 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_130112 | chr16 | 57931716:57931878:57937092:57937359:57939430:57939592 | 57937092:57937359 |
| exon_skip_269463 | chr16 | 57884368:57884457:57887855:57888074:57897397:57897543 | 57887855:57888074 |
| exon_skip_284903 | chr16 | 57912930:57912994:57915249:57915335:57916129:57916179 | 57915249:57915335 |
| exon_skip_83708 | chr16 | 57931765:57931878:57937092:57937359:57939430:57939549 | 57937092:57937359 |
| 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 CNGB1 |
| 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 |
| ENST00000251102 | 57887855 | 57888074 | Frame-shift |
| ENST00000251102 | 57915249 | 57915335 | 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 |
| ENST00000251102 | 57887855 | 57888074 | Frame-shift |
| ENST00000251102 | 57915249 | 57915335 | 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 |
| ENST00000251102 | 57915249 | 57915335 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CNGB1 |
p-ENSG00000070729_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 |
| ENST00000251102 | 5658 | 1251 | 57915249 | 57915335 | 2279 | 2364 | 739 | 767 |
| 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 |
| ENST00000251102 | 5658 | 1251 | 57915249 | 57915335 | 2279 | 2364 | 739 | 767 |
| 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 |
| ENST00000251102 | 5658 | 1251 | 57915249 | 57915335 | 2279 | 2364 | 739 | 767 |
| 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 |
| Q14028 | 739 | 767 | 300 | 1251 | Alternative sequence | ID=VSP_037922;Note=In isoform GARP2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7590744;Dbxref=PMID:7590744 |
| Q14028 | 739 | 767 | 1 | 1251 | Chain | ID=PRO_0000219323;Note=Cyclic nucleotide-gated cation channel beta-1 |
| Q14028 | 739 | 767 | 745 | 745 | Natural variant | ID=VAR_059228;Note=L->I;Dbxref=dbSNP:rs10459809 |
| Q14028 | 739 | 767 | 754 | 790 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14028 | 739 | 767 | 734 | 753 | Transmembrane | Note=Helical%3B Name%3DH3;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 |
| Q14028 | 739 | 767 | 300 | 1251 | Alternative sequence | ID=VSP_037922;Note=In isoform GARP2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7590744;Dbxref=PMID:7590744 |
| Q14028 | 739 | 767 | 1 | 1251 | Chain | ID=PRO_0000219323;Note=Cyclic nucleotide-gated cation channel beta-1 |
| Q14028 | 739 | 767 | 745 | 745 | Natural variant | ID=VAR_059228;Note=L->I;Dbxref=dbSNP:rs10459809 |
| Q14028 | 739 | 767 | 754 | 790 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14028 | 739 | 767 | 734 | 753 | Transmembrane | Note=Helical%3B Name%3DH3;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 |
| Q14028 | 739 | 767 | 300 | 1251 | Alternative sequence | ID=VSP_037922;Note=In isoform GARP2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7590744;Dbxref=PMID:7590744 |
| Q14028 | 739 | 767 | 1 | 1251 | Chain | ID=PRO_0000219323;Note=Cyclic nucleotide-gated cation channel beta-1 |
| Q14028 | 739 | 767 | 745 | 745 | Natural variant | ID=VAR_059228;Note=L->I;Dbxref=dbSNP:rs10459809 |
| Q14028 | 739 | 767 | 754 | 790 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14028 | 739 | 767 | 734 | 753 | Transmembrane | Note=Helical%3B Name%3DH3;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CNGB1 |
| 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 CNGB1 |
| - 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 CNGB1 |
| 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 CNGB1 |
| 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 CNGB1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CNGB1 |
| 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 CNGB1 |
| 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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