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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 CABYR |
Gene summary |
Gene information | Gene symbol | CABYR | Gene ID | 26256 |
Gene name | calcium binding tyrosine phosphorylation regulated | |
Synonyms | CABYRa|CABYRc|CABYRc/d|CABYRe|CBP86|CT88|FSP-2|FSP2 | |
Cytomap | 18q11.2 | |
Type of gene | protein-coding | |
Description | calcium-binding tyrosine phosphorylation-regulated proteincalcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2)calcium-binding protein 86cancer/testis antigen 88fibrousheathin IIfibrousheathin-2testis tissue sperm-binding protein | |
Modification date | 20200313 | |
UniProtAcc | A0A024RC21, | |
Context |
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 CABYR |
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 | DOWN | ENST00000327201.10 | CABYR-201:protein_coding:CABYR | 1.007292e+01 | -1.277561e+00 | 2.828551e-04 | 1.783728e-03 |
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 CABYR |
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_111318 | chr18 | 24156874:24156999:24159472:24160069:24161516:24161600 | 24159472:24160069 |
exon_skip_116995 | chr18 | 24143130:24143259:24143360:24143413:24155701:24155754 | 24143360:24143413 |
exon_skip_121495 | chr18 | 24156874:24156999:24159946:24160069:24161516:24161600 | 24159946:24160069 |
exon_skip_149081 | chr18 | 24143360:24143413:24155701:24156999:24159472:24159572 | 24155701:24156999 |
exon_skip_154064 | chr18 | 24143091:24143259:24143360:24143413:24155701:24156042 | 24143360:24143413 |
exon_skip_180866 | chr18 | 24139097:24139118:24143091:24143259:24155701:24155754 | 24143091:24143259 |
exon_skip_204540 | chr18 | 24143360:24143413:24155701:24156042:24159472:24159572 | 24155701:24156042 |
exon_skip_51400 | chr18 | 24139097:24139118:24143091:24143259:24155701:24156042 | 24143091:24143259 |
exon_skip_65378 | chr18 | 24156874:24156999:24159943:24160069:24161516:24161600 | 24159943:24160069 |
exon_skip_70737 | chr18 | 24143360:24143413:24155701:24156999:24159946:24160069 | 24155701:24156999 |
exon_skip_8631 | chr18 | 24143360:24143413:24155701:24156042:24159946:24160069 | 24155701:24156042 |
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 CABYR |
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 |
ENST00000463087 | 24155701 | 24156999 | 3UTR-3CDS |
ENST00000621648 | 24155701 | 24156999 | 3UTR-3CDS |
ENST00000463087 | 24143360 | 24143413 | In-frame |
ENST00000486759 | 24143360 | 24143413 | In-frame |
ENST00000621648 | 24143360 | 24143413 | 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 |
ENST00000463087 | 24143360 | 24143413 | In-frame |
ENST00000486759 | 24143360 | 24143413 | In-frame |
ENST00000621648 | 24143360 | 24143413 | 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 |
ENST00000621648 | 24155701 | 24156999 | 3UTR-3CDS |
ENST00000621648 | 24159472 | 24160069 | 3UTR-3UTR |
ENST00000463087 | 24159946 | 24160069 | 3UTR-3UTR |
ENST00000463087 | 24143360 | 24143413 | In-frame |
ENST00000486759 | 24143360 | 24143413 | In-frame |
ENST00000621648 | 24143360 | 24143413 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CABYR |
p-ENSG00000154040_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 |
ENST00000463087 | 1809 | 493 | 24143360 | 24143413 | 232 | 284 | 49 | 66 |
ENST00000486759 | 1681 | 493 | 24143360 | 24143413 | 228 | 280 | 49 | 66 |
ENST00000621648 | 2243 | 493 | 24143360 | 24143413 | 195 | 247 | 49 | 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 |
ENST00000463087 | 1809 | 493 | 24143360 | 24143413 | 232 | 284 | 49 | 66 |
ENST00000486759 | 1681 | 493 | 24143360 | 24143413 | 228 | 280 | 49 | 66 |
ENST00000621648 | 2243 | 493 | 24143360 | 24143413 | 195 | 247 | 49 | 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 |
ENST00000463087 | 1809 | 493 | 24143360 | 24143413 | 232 | 284 | 49 | 66 |
ENST00000486759 | 1681 | 493 | 24143360 | 24143413 | 228 | 280 | 49 | 66 |
ENST00000621648 | 2243 | 493 | 24143360 | 24143413 | 195 | 247 | 49 | 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 |
O75952 | 49 | 66 | 1 | 201 | Alternative sequence | ID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 201 | Alternative sequence | ID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 201 | Alternative sequence | ID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 98 | Alternative sequence | ID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 98 | Alternative sequence | ID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 98 | Alternative sequence | ID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 49 | 66 | Alternative sequence | ID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039 |
O75952 | 49 | 66 | 49 | 66 | Alternative sequence | ID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039 |
O75952 | 49 | 66 | 49 | 66 | Alternative sequence | ID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039 |
O75952 | 49 | 66 | 1 | 493 | Chain | ID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein |
O75952 | 49 | 66 | 1 | 493 | Chain | ID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein |
O75952 | 49 | 66 | 1 | 493 | Chain | ID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein |
O75952 | 49 | 66 | 12 | 49 | Domain | Note=RIIa |
O75952 | 49 | 66 | 12 | 49 | Domain | Note=RIIa |
O75952 | 49 | 66 | 12 | 49 | Domain | Note=RIIa |
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 |
O75952 | 49 | 66 | 1 | 201 | Alternative sequence | ID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 201 | Alternative sequence | ID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 201 | Alternative sequence | ID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 98 | Alternative sequence | ID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 98 | Alternative sequence | ID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 98 | Alternative sequence | ID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 49 | 66 | Alternative sequence | ID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039 |
O75952 | 49 | 66 | 49 | 66 | Alternative sequence | ID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039 |
O75952 | 49 | 66 | 49 | 66 | Alternative sequence | ID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039 |
O75952 | 49 | 66 | 1 | 493 | Chain | ID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein |
O75952 | 49 | 66 | 1 | 493 | Chain | ID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein |
O75952 | 49 | 66 | 1 | 493 | Chain | ID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein |
O75952 | 49 | 66 | 12 | 49 | Domain | Note=RIIa |
O75952 | 49 | 66 | 12 | 49 | Domain | Note=RIIa |
O75952 | 49 | 66 | 12 | 49 | Domain | Note=RIIa |
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 |
O75952 | 49 | 66 | 1 | 201 | Alternative sequence | ID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 201 | Alternative sequence | ID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 201 | Alternative sequence | ID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 98 | Alternative sequence | ID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 98 | Alternative sequence | ID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 1 | 98 | Alternative sequence | ID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818 |
O75952 | 49 | 66 | 49 | 66 | Alternative sequence | ID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039 |
O75952 | 49 | 66 | 49 | 66 | Alternative sequence | ID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039 |
O75952 | 49 | 66 | 49 | 66 | Alternative sequence | ID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039 |
O75952 | 49 | 66 | 1 | 493 | Chain | ID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein |
O75952 | 49 | 66 | 1 | 493 | Chain | ID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein |
O75952 | 49 | 66 | 1 | 493 | Chain | ID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein |
O75952 | 49 | 66 | 12 | 49 | Domain | Note=RIIa |
O75952 | 49 | 66 | 12 | 49 | Domain | Note=RIIa |
O75952 | 49 | 66 | 12 | 49 | Domain | Note=RIIa |
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3'-UTR located exon skipping events that lost miRNA binding sites in CABYR |
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 | ENST00000463087 | 24159946 | 24160069 | hsa-miR-30e-3p | chr18:24160059-24160066 | 8mer-1a | chr18:24160045-24160066 | 148.00 | -12.66 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-30e-3p | chr18:24160059-24160066 | 8mer-1a | chr18:24160045-24160066 | 148.00 | -12.66 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-6733-5p | chr18:24159934-24159941 | 8mer-1a | chr18:24159934-24159956 | 179.00 | -30.15 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-3121-3p | chr18:24159604-24159611 | 8mer-1a | chr18:24159597-24159617 | 146.00 | -16.83 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-6739-5p | chr18:24159934-24159941 | 8mer-1a | chr18:24159934-24159956 | 179.00 | -30.15 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-7162-5p | chr18:24159733-24159740 | 8mer-1a | chr18:24159724-24159744 | 158.00 | -21.57 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-146b-3p | chr18:24159739-24159746 | 8mer-1a | chr18:24159736-24159758 | 148.00 | -18.71 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-3165 | chr18:24159643-24159650 | 8mer-1a | chr18:24159641-24159663 | 163.00 | -17.07 |
Mayo | ENST00000463087 | 24159946 | 24160069 | hsa-miR-1251-3p | chr18:24160048-24160055 | 8mer-1a | chr18:24160045-24160066 | 148.00 | -12.66 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-1251-3p | chr18:24160048-24160055 | 8mer-1a | chr18:24160045-24160066 | 148.00 | -12.66 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-3665 | chr18:24159571-24159578 | 8mer-1a | chr18:24159559-24159578 | 150.00 | -23.68 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-494-5p | chr18:24159493-24159500 | 8mer-1a | chr18:24159478-24159500 | 169.00 | -19.75 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-323b-5p | chr18:24159493-24159500 | 8mer-1a | chr18:24159478-24159500 | 169.00 | -19.75 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-410-5p | chr18:24159493-24159500 | 8mer-1a | chr18:24159478-24159500 | 169.00 | -19.75 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-1179 | chr18:24159869-24159876 | 8mer-1a | chr18:24159860-24159884 | 154.00 | -24.43 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-33b-5p | chr18:24159805-24159812 | 8mer-1a | chr18:24159804-24159832 | 140.00 | -25.14 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-4738-3p | chr18:24159630-24159637 | 8mer-1a | chr18:24159625-24159649 | 160.00 | -20.57 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-516b-3p | chr18:24159733-24159740 | 8mer-1a | chr18:24159724-24159744 | 158.00 | -21.57 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-516a-3p | chr18:24159733-24159740 | 8mer-1a | chr18:24159724-24159744 | 158.00 | -21.57 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-10394-5p | chr18:24159828-24159835 | 8mer-1a | chr18:24159817-24159839 | 162.00 | -22.06 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-217-3p | chr18:24159536-24159543 | 8mer-1a | chr18:24159528-24159552 | 151.00 | -22.01 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-4774-5p | chr18:24159842-24159849 | 8mer-1a | chr18:24159828-24159849 | 142.00 | -15.93 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-33a-5p | chr18:24159805-24159812 | 8mer-1a | chr18:24159804-24159832 | 140.00 | -25.14 |
Mayo | ENST00000463087 | 24159946 | 24160069 | hsa-miR-30a-3p | chr18:24160059-24160066 | 8mer-1a | chr18:24160045-24160066 | 148.00 | -12.66 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-30a-3p | chr18:24160059-24160066 | 8mer-1a | chr18:24160045-24160066 | 148.00 | -12.66 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-1205 | chr18:24159828-24159835 | 8mer-1a | chr18:24159817-24159839 | 162.00 | -22.06 |
Mayo | ENST00000463087 | 24159946 | 24160069 | hsa-miR-30d-3p | chr18:24160059-24160066 | 8mer-1a | chr18:24160045-24160066 | 148.00 | -12.66 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-30d-3p | chr18:24160059-24160066 | 8mer-1a | chr18:24160045-24160066 | 148.00 | -12.66 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-3153 | chr18:24159934-24159941 | 8mer-1a | chr18:24159934-24159956 | 179.00 | -30.15 |
Mayo | ENST00000621648 | 24159472 | 24160069 | hsa-miR-6894-5p | chr18:24159877-24159884 | 8mer-1a | chr18:24159860-24159884 | 154.00 | -24.43 |
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SNVs in the skipped exons for CABYR |
- 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 CABYR |
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 CABYR |
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 CABYR |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CABYR |
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 CABYR |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |