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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 CYBA |
Gene summary |
Gene information | Gene symbol | CYBA | Gene ID | 1535 |
Gene name | cytochrome b-245 alpha chain | |
Synonyms | p22-PHOX | |
Cytomap | 16q24.2 | |
Type of gene | protein-coding | |
Description | cytochrome b-245 light chaincytochrome b light chaincytochrome b(558) alpha chaincytochrome b(558) alpha-subunitcytochrome b, alpha polypeptidecytochrome b-245, alpha polypeptidecytochrome b558 subunit alphaflavocytochrome b-558 alpha polypeptiden | |
Modification date | 20200329 | |
UniProtAcc | ||
Context | - 26000926(Association of the p22phox polymorphism C242T with the risk of late-onset Alzheimer's disease in a northern Han Chinese population) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
CYBA | GO:0017004 | cytochrome complex assembly | 7938008 |
CYBA | GO:0032755 | positive regulation of interleukin-6 production | 22423966 |
CYBA | GO:0032760 | positive regulation of tumor necrosis factor production | 22423966 |
CYBA | GO:0034137 | positive regulation of toll-like receptor 2 signaling pathway | 22423966 |
CYBA | GO:0050766 | positive regulation of phagocytosis | 22423966 |
CYBA | GO:1900426 | positive regulation of defense response to bacterium | 22423966 |
CYBA | GO:1903428 | positive regulation of reactive oxygen species biosynthetic process | 22423966 |
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Gene structures and expression levels for CYBA |
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 CYBA |
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_192158 | chr16 | 88646141:88646197:88646755:88646838:88647101:88647175 | 88646755:88646838 |
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 CYBA |
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 |
ENST00000261623 | 88646755 | 88646838 | 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 |
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 |
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Infer the effects of exon skipping event on protein functional features for CYBA |
p-ENSG00000051523_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 |
ENST00000261623 | 814 | 195 | 88646755 | 88646838 | 343 | 425 | 68 | 95 |
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 |
P13498 | 68 | 95 | 2 | 195 | Chain | ID=PRO_0000144907;Note=Cytochrome b-245 light chain |
P13498 | 68 | 95 | 91 | 127 | Intramembrane | . |
P13498 | 68 | 95 | 94 | 94 | Metal binding | Note=Iron (heme axial ligand);Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P13498 | 68 | 95 | 72 | 72 | Natural variant | ID=VAR_005122;Note=Y->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19388116,ECO:0000269|PubMed:2469497,ECO:0000269|PubMed:3368442;Dbxref=dbSNP:rs4673,PMID:19388116,PMID:2469497,PMID:3368442 |
P13498 | 68 | 95 | 90 | 90 | Natural variant | ID=VAR_005123;Note=In ARCGD. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1415254;Dbxref=dbSNP:rs104894513,PMID:1415254 |
P13498 | 68 | 95 | 90 | 90 | Natural variant | ID=VAR_060579;Note=In ARCGD. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10910929;Dbxref=dbSNP:rs179363892,PMID:10910929 |
P13498 | 68 | 95 | 94 | 94 | Natural variant | ID=VAR_005124;Note=In ARCGD. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1415254;Dbxref=dbSNP:rs104894510,PMID:1415254 |
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 CYBA |
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 CYBA |
- 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 CYBA |
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 CYBA |
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 CYBA |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CYBA |
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 CYBA |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |