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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 CYBC1 |
 Gene summary |
| Gene information | Gene symbol | CYBC1 | Gene ID | 79415 |
| Gene name | cytochrome b-245 chaperone 1 | |
| Synonyms | C17orf62|Eros | |
| Cytomap | 17q25.3 | |
| Type of gene | protein-coding | |
| Description | cytochrome b-245 chaperone 1essential for reactive oxygen species proteinuncharacterized protein C17orf62 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A0U1RQN8, | |
| 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 CYBC1 |
| 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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ENSG00000178927
| 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 | ENST00000342572.12 | CYBC1-202:protein_coding:CYBC1 | 8.447753e+01 | -1.490792e+00 | 2.183758e-03 | 9.906573e-03 |
| TC | DOWN | ENST00000342572.12 | CYBC1-202:protein_coding:CYBC1 | 8.025551e+01 | -3.291479e+00 | 1.603120e-04 | 2.346943e-03 |
| TC | UP | ENST00000579751.5 | CYBC1-219:protein_coding:CYBC1 | 1.843109e+00 | 1.106469e+00 | 2.052631e-03 | 1.711223e-02 |
| 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 CYBC1 |
| 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_102201 | chr17 | 82446623:82446696:82447580:82447621:82449170:82449292 | 82447580:82447621 |
| exon_skip_105521 | chr17 | 82447580:82447621:82449170:82449292:82450700:82450717 | 82449170:82449292 |
| exon_skip_114699 | chr17 | 82449174:82449292:82449431:82449956:82450700:82450737 | 82449431:82449956 |
| exon_skip_127543 | chr17 | 82447580:82447621:82449170:82449292:82449431:82449480 | 82449170:82449292 |
| exon_skip_128131 | chr17 | 82449174:82449292:82450199:82450254:82450700:82450717 | 82450199:82450254 |
| exon_skip_129829 | chr17 | 82445864:82445960:82446623:82446696:82447580:82447621 | 82446623:82446696 |
| exon_skip_131664 | chr17 | 82449174:82449292:82449431:82449480:82450480:82450670 | 82449431:82449480 |
| exon_skip_145066 | chr17 | 82449170:82449292:82449431:82449480:82450199:82450254 | 82449431:82449480 |
| exon_skip_162886 | chr17 | 82446623:82446696:82447580:82447646:82449170:82449292 | 82447580:82447646 |
| exon_skip_17598 | chr17 | 82449170:82449292:82450199:82450254:82450700:82450717 | 82450199:82450254 |
| exon_skip_183333 | chr17 | 82449431:82449480:82450199:82450254:82450700:82450775 | 82450199:82450254 |
| exon_skip_187920 | chr17 | 82446623:82446696:82447580:82447646:82449170:82449320 | 82447580:82447646 |
| exon_skip_187992 | chr17 | 82446623:82446696:82449170:82449292:82449431:82449480 | 82449170:82449292 |
| exon_skip_20612 | chr17 | 82447580:82447621:82449174:82449292:82449431:82449480 | 82449174:82449292 |
| exon_skip_227429 | chr17 | 82449431:82449480:82450199:82450254:82450700:82450717 | 82450199:82450254 |
| exon_skip_250876 | chr17 | 82445864:82445960:82446623:82446696:82450700:82450717 | 82446623:82446696 |
| exon_skip_252275 | chr17 | 82449174:82449292:82449431:82449480:82450700:82450775 | 82449431:82449480 |
| exon_skip_271384 | chr17 | 82449174:82449292:82449431:82449480:82450700:82450717 | 82449431:82449480 |
| exon_skip_275737 | chr17 | 82449174:82449292:82449431:82449956:82450700:82450717 | 82449431:82449956 |
| exon_skip_27809 | chr17 | 82445864:82445960:82446623:82446696:82449170:82449292 | 82446623:82446696 |
| exon_skip_34528 | chr17 | 82449174:82449292:82449431:82449480:82450480:82450709 | 82449431:82449480 |
| exon_skip_39378 | chr17 | 82445864:82445960:82447580:82447621:82449170:82449292 | 82447580:82447621 |
| exon_skip_44276 | chr17 | 82449174:82449292:82449431:82449480:82450199:82450254 | 82449431:82449480 |
| exon_skip_45239 | chr17 | 82447580:82447621:82449174:82449292:82450700:82450717 | 82449174:82449292 |
| exon_skip_45927 | chr17 | 82446623:82446696:82447580:82447621:82450700:82450717 | 82447580:82447621 |
| exon_skip_57627 | chr17 | 82449174:82449292:82449431:82449480:82450533:82450708 | 82449431:82449480 |
| exon_skip_59033 | chr17 | 82447580:82447621:82447851:82447927:82450700:82450750 | 82447851:82447927 |
| exon_skip_63733 | chr17 | 82446623:82446696:82449170:82449292:82450700:82450717 | 82449170:82449292 |
| exon_skip_68283 | chr17 | 82446623:82446696:82447580:82447621:82449174:82449292 | 82447580:82447621 |
| exon_skip_70383 | chr17 | 82445864:82445960:82446623:82446692:82450700:82450728 | 82446623:82446692 |
| exon_skip_77522 | chr17 | 82445864:82445960:82446623:82446692:82450700:82450717 | 82446623:82446692 |
| 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 CYBC1 |
| 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 |
| ENST00000437807 | 82449431 | 82449480 | 3UTR-3UTR |
| ENST00000578919 | 82449431 | 82449480 | 3UTR-3UTR |
| ENST00000585080 | 82450199 | 82450254 | 3UTR-3UTR |
| ENST00000306645 | 82446623 | 82446696 | Frame-shift |
| ENST00000437807 | 82446623 | 82446696 | Frame-shift |
| ENST00000577732 | 82446623 | 82446696 | Frame-shift |
| ENST00000578919 | 82446623 | 82446696 | Frame-shift |
| ENST00000585064 | 82446623 | 82446696 | Frame-shift |
| ENST00000585080 | 82446623 | 82446696 | Frame-shift |
| ENST00000306645 | 82447580 | 82447621 | In-frame |
| ENST00000437807 | 82447580 | 82447621 | In-frame |
| ENST00000577732 | 82447580 | 82447621 | In-frame |
| ENST00000578919 | 82447580 | 82447621 | In-frame |
| ENST00000585064 | 82447580 | 82447621 | In-frame |
| ENST00000585080 | 82447580 | 82447621 | 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 |
| ENST00000437807 | 82449431 | 82449480 | 3UTR-3UTR |
| ENST00000578919 | 82449431 | 82449480 | 3UTR-3UTR |
| ENST00000306645 | 82447580 | 82447621 | In-frame |
| ENST00000437807 | 82447580 | 82447621 | In-frame |
| ENST00000577732 | 82447580 | 82447621 | In-frame |
| ENST00000578919 | 82447580 | 82447621 | In-frame |
| ENST00000585064 | 82447580 | 82447621 | In-frame |
| ENST00000585080 | 82447580 | 82447621 | 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 |
| ENST00000437807 | 82449170 | 82449292 | 3UTR-3CDS |
| ENST00000577732 | 82449170 | 82449292 | 3UTR-3CDS |
| ENST00000578919 | 82449170 | 82449292 | 3UTR-3CDS |
| ENST00000437807 | 82449431 | 82449480 | 3UTR-3UTR |
| ENST00000578919 | 82449431 | 82449480 | 3UTR-3UTR |
| ENST00000585080 | 82450199 | 82450254 | 3UTR-3UTR |
| ENST00000306645 | 82446623 | 82446696 | Frame-shift |
| ENST00000437807 | 82446623 | 82446696 | Frame-shift |
| ENST00000577732 | 82446623 | 82446696 | Frame-shift |
| ENST00000578919 | 82446623 | 82446696 | Frame-shift |
| ENST00000585064 | 82446623 | 82446696 | Frame-shift |
| ENST00000585080 | 82446623 | 82446696 | Frame-shift |
| ENST00000306645 | 82447580 | 82447621 | In-frame |
| ENST00000437807 | 82447580 | 82447621 | In-frame |
| ENST00000577732 | 82447580 | 82447621 | In-frame |
| ENST00000578919 | 82447580 | 82447621 | In-frame |
| ENST00000585064 | 82447580 | 82447621 | In-frame |
| ENST00000585080 | 82447580 | 82447621 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CYBC1 |
p-ENSG00000178927_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 CYBC1 |
| 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 | ENST00000578919 | 82449431 | 82449480 | hsa-miR-326 | chr17:82449464-82449471 | 8mer-1a | chr17:82449456-82449473 | 151.00 | -19.83 |
| Mayo | ENST00000578919 | 82449431 | 82449480 | hsa-miR-5010-5p | chr17:82449460-82449467 | 8mer-1a | chr17:82449446-82449469 | 158.00 | -25.33 |
| Mayo | ENST00000578919 | 82449431 | 82449480 | hsa-miR-4525 | chr17:82449460-82449467 | 8mer-1a | chr17:82449446-82449469 | 158.00 | -25.33 |
| Mayo | ENST00000578919 | 82449431 | 82449480 | hsa-miR-637 | chr17:82449462-82449469 | 8mer-1a | chr17:82449446-82449469 | 158.00 | -25.33 |
| Mayo | ENST00000578919 | 82449431 | 82449480 | hsa-miR-330-5p | chr17:82449464-82449471 | 8mer-1a | chr17:82449456-82449473 | 151.00 | -19.83 |
| Mayo | ENST00000585080 | 82450199 | 82450254 | hsa-miR-1289 | chr17:82450245-82450252 | 8mer-1a | chr17:82450232-82450253 | 163.00 | -23.22 |
| Mayo | ENST00000585080 | 82450199 | 82450254 | hsa-miR-6828-3p | chr17:82450226-82450233 | 8mer-1a | chr17:82450222-82450244 | 160.00 | -19.94 |
| Mayo | ENST00000585080 | 82450199 | 82450254 | hsa-miR-767-3p | chr17:82450225-82450232 | 8mer-1a | chr17:82450222-82450244 | 160.00 | -19.94 |
| MSBB | ENST00000578919 | 82449431 | 82449480 | hsa-miR-326 | chr17:82449464-82449471 | 8mer-1a | chr17:82449456-82449473 | 151.00 | -19.83 |
| MSBB | ENST00000578919 | 82449431 | 82449480 | hsa-miR-5010-5p | chr17:82449460-82449467 | 8mer-1a | chr17:82449446-82449469 | 158.00 | -25.33 |
| MSBB | ENST00000578919 | 82449431 | 82449480 | hsa-miR-4525 | chr17:82449460-82449467 | 8mer-1a | chr17:82449446-82449469 | 158.00 | -25.33 |
| MSBB | ENST00000578919 | 82449431 | 82449480 | hsa-miR-637 | chr17:82449462-82449469 | 8mer-1a | chr17:82449446-82449469 | 158.00 | -25.33 |
| MSBB | ENST00000578919 | 82449431 | 82449480 | hsa-miR-330-5p | chr17:82449464-82449471 | 8mer-1a | chr17:82449456-82449473 | 151.00 | -19.83 |
| ROSMAP | ENST00000578919 | 82449431 | 82449480 | hsa-miR-326 | chr17:82449464-82449471 | 8mer-1a | chr17:82449456-82449473 | 151.00 | -19.83 |
| ROSMAP | ENST00000578919 | 82449431 | 82449480 | hsa-miR-5010-5p | chr17:82449460-82449467 | 8mer-1a | chr17:82449446-82449469 | 158.00 | -25.33 |
| ROSMAP | ENST00000578919 | 82449431 | 82449480 | hsa-miR-4525 | chr17:82449460-82449467 | 8mer-1a | chr17:82449446-82449469 | 158.00 | -25.33 |
| ROSMAP | ENST00000578919 | 82449431 | 82449480 | hsa-miR-637 | chr17:82449462-82449469 | 8mer-1a | chr17:82449446-82449469 | 158.00 | -25.33 |
| ROSMAP | ENST00000578919 | 82449431 | 82449480 | hsa-miR-330-5p | chr17:82449464-82449471 | 8mer-1a | chr17:82449456-82449473 | 151.00 | -19.83 |
| ROSMAP | ENST00000585080 | 82450199 | 82450254 | hsa-miR-1289 | chr17:82450245-82450252 | 8mer-1a | chr17:82450232-82450253 | 163.00 | -23.22 |
| ROSMAP | ENST00000585080 | 82450199 | 82450254 | hsa-miR-6828-3p | chr17:82450226-82450233 | 8mer-1a | chr17:82450222-82450244 | 160.00 | -19.94 |
| ROSMAP | ENST00000585080 | 82450199 | 82450254 | hsa-miR-767-3p | chr17:82450225-82450232 | 8mer-1a | chr17:82450222-82450244 | 160.00 | -19.94 |
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SNVs in the skipped exons for CYBC1 |
| - 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 CYBC1 |
| 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 CYBC1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_102201 | rs6502114 | chr17:82491800 | 2.607523e-05 | 5.763105e-03 |
| HCC | exon_skip_129829 | rs12450641 | chr17:82531415 | 1.624923e-04 | 1.370400e-02 |
| HCC | exon_skip_129829 | rs12450240 | chr17:82465836 | 3.581414e-04 | 2.600638e-02 |
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Correlation with RNA binding proteins (RBPs) for CYBC1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4 | exon_skip_275737 | 4.050741e-01 | 2.721791e-07 |
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RelatedDrugs for CYBC1 |
| 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 CYBC1 |
| 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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