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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 CGGBP1 |
Gene summary |
Gene information | Gene symbol | CGGBP1 | Gene ID | 8545 |
Gene name | CGG triplet repeat binding protein 1 | |
Synonyms | CGGBP|p20-CGGBP | |
Cytomap | 3p11.1 | |
Type of gene | protein-coding | |
Description | CGG triplet repeat-binding protein 120 kDa CGG-binding proteinCGG-binding protein 1p20-CGG binding proteinp20-CGGBP DNA-binding protein | |
Modification date | 20200327 | |
UniProtAcc | C9JUJ0, Q9UFW8, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
CGGBP1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10692448 |
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Gene structures and expression levels for CGGBP1 |
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 | ENST00000462901.5 | CGGBP1-203:protein_coding:CGGBP1 | 1.258033e+01 | 1.137012e+00 | 6.341178e-07 | 1.018583e-05 |
CB | UP | ENST00000474441.1 | CGGBP1-205:lncRNA:CGGBP1 | 4.841070e+01 | 8.558218e-01 | 1.953301e-06 | 2.648598e-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 CGGBP1 |
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_26818 | chr3 | 88055658:88055999:88057191:88057292:88058019:88058223 | 88057191:88057292 |
exon_skip_8511 | chr3 | 88055658:88055999:88058019:88058223:88140970:88141078 | 88058019:88058223 |
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 CGGBP1 |
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 |
ENST00000482016 | 88057191 | 88057292 | 3UTR-3UTR |
ENST00000462901 | 88058019 | 88058223 | 3UTR-3UTR |
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 |
ENST00000482016 | 88057191 | 88057292 | 3UTR-3UTR |
ENST00000462901 | 88058019 | 88058223 | 3UTR-3UTR |
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 |
ENST00000482016 | 88057191 | 88057292 | 3UTR-3UTR |
ENST00000462901 | 88058019 | 88058223 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for CGGBP1 |
p-ENSG00000163320_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 CGGBP1 |
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 |
Mayo | ENST00000462901 | 88058019 | 88058223 | hsa-miR-605-3p | chr3:88058129-88058136 | 8mer-1a | chr3:88058114-88058136 | 155.00 | -12.72 |
Mayo | ENST00000482016 | 88057191 | 88057292 | hsa-miR-6507-3p | chr3:88057228-88057235 | 8mer-1a | chr3:88057224-88057245 | 152.00 | -12.57 |
Mayo | ENST00000462901 | 88058019 | 88058223 | hsa-miR-9851-3p | chr3:88058200-88058207 | 8mer-1a | chr3:88058187-88058210 | 167.00 | -32.40 |
Mayo | ENST00000482016 | 88057191 | 88057292 | hsa-miR-613 | chr3:88057277-88057284 | 8mer-1a | chr3:88057265-88057284 | 157.00 | -14.05 |
Mayo | ENST00000462901 | 88058019 | 88058223 | hsa-miR-617 | chr3:88058208-88058215 | 8mer-1a | chr3:88058197-88058219 | 147.00 | -19.17 |
Mayo | ENST00000462901 | 88058019 | 88058223 | hsa-miR-8073 | chr3:88058203-88058210 | 8mer-1a | chr3:88058187-88058210 | 167.00 | -32.40 |
Mayo | ENST00000462901 | 88058019 | 88058223 | hsa-miR-6764-3p | chr3:88058079-88058086 | 8mer-1a | chr3:88058066-88058086 | 153.00 | -19.00 |
Mayo | ENST00000462901 | 88058019 | 88058223 | hsa-miR-6126 | chr3:88058130-88058137 | 8mer-1a | chr3:88058119-88058137 | 142.00 | -22.23 |
Mayo | ENST00000482016 | 88057191 | 88057292 | hsa-miR-1-3p | chr3:88057277-88057284 | 8mer-1a | chr3:88057265-88057284 | 157.00 | -14.05 |
Mayo | ENST00000482016 | 88057191 | 88057292 | hsa-miR-4782-5p | chr3:88057263-88057270 | 8mer-1a | chr3:88057249-88057270 | 154.00 | -20.78 |
Mayo | ENST00000462901 | 88058019 | 88058223 | hsa-miR-6824-3p | chr3:88058079-88058086 | 8mer-1a | chr3:88058066-88058086 | 153.00 | -19.00 |
Mayo | ENST00000482016 | 88057191 | 88057292 | hsa-miR-5706 | chr3:88057263-88057270 | 8mer-1a | chr3:88057249-88057270 | 154.00 | -20.78 |
Mayo | ENST00000482016 | 88057191 | 88057292 | hsa-miR-206 | chr3:88057277-88057284 | 8mer-1a | chr3:88057265-88057284 | 157.00 | -14.05 |
Mayo | ENST00000462901 | 88058019 | 88058223 | hsa-miR-653-5p | chr3:88058146-88058153 | 8mer-1a | chr3:88058138-88058157 | 159.00 | -19.45 |
Mayo | ENST00000462901 | 88058019 | 88058223 | hsa-miR-593-5p | chr3:88058200-88058207 | 8mer-1a | chr3:88058187-88058210 | 167.00 | -32.40 |
Mayo | ENST00000462901 | 88058019 | 88058223 | hsa-miR-29b-1-5p | chr3:88058077-88058084 | 8mer-1a | chr3:88058060-88058084 | 155.00 | -19.62 |
Mayo | ENST00000482016 | 88057191 | 88057292 | hsa-miR-7114-5p | chr3:88057281-88057288 | 8mer-1a | chr3:88057268-88057288 | 151.00 | -19.97 |
Mayo | ENST00000462901 | 88058019 | 88058223 | hsa-miR-221-5p | chr3:88058203-88058210 | 8mer-1a | chr3:88058187-88058210 | 167.00 | -32.40 |
Mayo | ENST00000462901 | 88058019 | 88058223 | hsa-miR-548an | chr3:88058216-88058223 | 8mer-1a | chr3:88058207-88058223 | 146.00 | -12.44 |
MSBB | ENST00000462901 | 88058019 | 88058223 | hsa-miR-605-3p | chr3:88058129-88058136 | 8mer-1a | chr3:88058114-88058136 | 155.00 | -12.72 |
MSBB | ENST00000482016 | 88057191 | 88057292 | hsa-miR-6507-3p | chr3:88057228-88057235 | 8mer-1a | chr3:88057224-88057245 | 152.00 | -12.57 |
MSBB | ENST00000462901 | 88058019 | 88058223 | hsa-miR-9851-3p | chr3:88058200-88058207 | 8mer-1a | chr3:88058187-88058210 | 167.00 | -32.40 |
MSBB | ENST00000482016 | 88057191 | 88057292 | hsa-miR-613 | chr3:88057277-88057284 | 8mer-1a | chr3:88057265-88057284 | 157.00 | -14.05 |
MSBB | ENST00000462901 | 88058019 | 88058223 | hsa-miR-617 | chr3:88058208-88058215 | 8mer-1a | chr3:88058197-88058219 | 147.00 | -19.17 |
MSBB | ENST00000462901 | 88058019 | 88058223 | hsa-miR-8073 | chr3:88058203-88058210 | 8mer-1a | chr3:88058187-88058210 | 167.00 | -32.40 |
MSBB | ENST00000462901 | 88058019 | 88058223 | hsa-miR-6764-3p | chr3:88058079-88058086 | 8mer-1a | chr3:88058066-88058086 | 153.00 | -19.00 |
MSBB | ENST00000462901 | 88058019 | 88058223 | hsa-miR-6126 | chr3:88058130-88058137 | 8mer-1a | chr3:88058119-88058137 | 142.00 | -22.23 |
MSBB | ENST00000482016 | 88057191 | 88057292 | hsa-miR-1-3p | chr3:88057277-88057284 | 8mer-1a | chr3:88057265-88057284 | 157.00 | -14.05 |
MSBB | ENST00000482016 | 88057191 | 88057292 | hsa-miR-4782-5p | chr3:88057263-88057270 | 8mer-1a | chr3:88057249-88057270 | 154.00 | -20.78 |
MSBB | ENST00000462901 | 88058019 | 88058223 | hsa-miR-6824-3p | chr3:88058079-88058086 | 8mer-1a | chr3:88058066-88058086 | 153.00 | -19.00 |
MSBB | ENST00000482016 | 88057191 | 88057292 | hsa-miR-5706 | chr3:88057263-88057270 | 8mer-1a | chr3:88057249-88057270 | 154.00 | -20.78 |
MSBB | ENST00000482016 | 88057191 | 88057292 | hsa-miR-206 | chr3:88057277-88057284 | 8mer-1a | chr3:88057265-88057284 | 157.00 | -14.05 |
MSBB | ENST00000462901 | 88058019 | 88058223 | hsa-miR-653-5p | chr3:88058146-88058153 | 8mer-1a | chr3:88058138-88058157 | 159.00 | -19.45 |
MSBB | ENST00000462901 | 88058019 | 88058223 | hsa-miR-593-5p | chr3:88058200-88058207 | 8mer-1a | chr3:88058187-88058210 | 167.00 | -32.40 |
MSBB | ENST00000462901 | 88058019 | 88058223 | hsa-miR-29b-1-5p | chr3:88058077-88058084 | 8mer-1a | chr3:88058060-88058084 | 155.00 | -19.62 |
MSBB | ENST00000482016 | 88057191 | 88057292 | hsa-miR-7114-5p | chr3:88057281-88057288 | 8mer-1a | chr3:88057268-88057288 | 151.00 | -19.97 |
MSBB | ENST00000462901 | 88058019 | 88058223 | hsa-miR-221-5p | chr3:88058203-88058210 | 8mer-1a | chr3:88058187-88058210 | 167.00 | -32.40 |
MSBB | ENST00000462901 | 88058019 | 88058223 | hsa-miR-548an | chr3:88058216-88058223 | 8mer-1a | chr3:88058207-88058223 | 146.00 | -12.44 |
ROSMAP | ENST00000462901 | 88058019 | 88058223 | hsa-miR-605-3p | chr3:88058129-88058136 | 8mer-1a | chr3:88058114-88058136 | 155.00 | -12.72 |
ROSMAP | ENST00000482016 | 88057191 | 88057292 | hsa-miR-6507-3p | chr3:88057228-88057235 | 8mer-1a | chr3:88057224-88057245 | 152.00 | -12.57 |
ROSMAP | ENST00000462901 | 88058019 | 88058223 | hsa-miR-9851-3p | chr3:88058200-88058207 | 8mer-1a | chr3:88058187-88058210 | 167.00 | -32.40 |
ROSMAP | ENST00000482016 | 88057191 | 88057292 | hsa-miR-613 | chr3:88057277-88057284 | 8mer-1a | chr3:88057265-88057284 | 157.00 | -14.05 |
ROSMAP | ENST00000462901 | 88058019 | 88058223 | hsa-miR-617 | chr3:88058208-88058215 | 8mer-1a | chr3:88058197-88058219 | 147.00 | -19.17 |
ROSMAP | ENST00000462901 | 88058019 | 88058223 | hsa-miR-8073 | chr3:88058203-88058210 | 8mer-1a | chr3:88058187-88058210 | 167.00 | -32.40 |
ROSMAP | ENST00000462901 | 88058019 | 88058223 | hsa-miR-6764-3p | chr3:88058079-88058086 | 8mer-1a | chr3:88058066-88058086 | 153.00 | -19.00 |
ROSMAP | ENST00000462901 | 88058019 | 88058223 | hsa-miR-6126 | chr3:88058130-88058137 | 8mer-1a | chr3:88058119-88058137 | 142.00 | -22.23 |
ROSMAP | ENST00000482016 | 88057191 | 88057292 | hsa-miR-1-3p | chr3:88057277-88057284 | 8mer-1a | chr3:88057265-88057284 | 157.00 | -14.05 |
ROSMAP | ENST00000482016 | 88057191 | 88057292 | hsa-miR-4782-5p | chr3:88057263-88057270 | 8mer-1a | chr3:88057249-88057270 | 154.00 | -20.78 |
ROSMAP | ENST00000462901 | 88058019 | 88058223 | hsa-miR-6824-3p | chr3:88058079-88058086 | 8mer-1a | chr3:88058066-88058086 | 153.00 | -19.00 |
ROSMAP | ENST00000482016 | 88057191 | 88057292 | hsa-miR-5706 | chr3:88057263-88057270 | 8mer-1a | chr3:88057249-88057270 | 154.00 | -20.78 |
ROSMAP | ENST00000482016 | 88057191 | 88057292 | hsa-miR-206 | chr3:88057277-88057284 | 8mer-1a | chr3:88057265-88057284 | 157.00 | -14.05 |
ROSMAP | ENST00000462901 | 88058019 | 88058223 | hsa-miR-653-5p | chr3:88058146-88058153 | 8mer-1a | chr3:88058138-88058157 | 159.00 | -19.45 |
ROSMAP | ENST00000462901 | 88058019 | 88058223 | hsa-miR-593-5p | chr3:88058200-88058207 | 8mer-1a | chr3:88058187-88058210 | 167.00 | -32.40 |
ROSMAP | ENST00000462901 | 88058019 | 88058223 | hsa-miR-29b-1-5p | chr3:88058077-88058084 | 8mer-1a | chr3:88058060-88058084 | 155.00 | -19.62 |
ROSMAP | ENST00000482016 | 88057191 | 88057292 | hsa-miR-7114-5p | chr3:88057281-88057288 | 8mer-1a | chr3:88057268-88057288 | 151.00 | -19.97 |
ROSMAP | ENST00000462901 | 88058019 | 88058223 | hsa-miR-221-5p | chr3:88058203-88058210 | 8mer-1a | chr3:88058187-88058210 | 167.00 | -32.40 |
ROSMAP | ENST00000462901 | 88058019 | 88058223 | hsa-miR-548an | chr3:88058216-88058223 | 8mer-1a | chr3:88058207-88058223 | 146.00 | -12.44 |
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SNVs in the skipped exons for CGGBP1 |
- 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 CGGBP1 |
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 CGGBP1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
HCC | exon_skip_26818 | rs12629581 | chr3:88122078 | 7.973915e-08 | 1.630920e-05 |
DLPFC | exon_skip_26818 | rs12629581 | chr3:88122078 | 5.004967e-04 | 3.229007e-02 |
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Correlation with RNA binding proteins (RBPs) for CGGBP1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CGGBP1 |
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 CGGBP1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |