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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 COX6C |
Gene summary |
Gene information | Gene symbol | COX6C | Gene ID | 1345 |
Gene name | cytochrome c oxidase subunit 6C | |
Synonyms | - | |
Cytomap | 8q22.2 | |
Type of gene | protein-coding | |
Description | cytochrome c oxidase subunit 6Ccytochrome c oxidase polypeptide VIccytochrome c oxidase subunit VIc preproteinepididymis secretory sperm binding protein | |
Modification date | 20200313 | |
UniProtAcc | A0A024R9B7, P09669, | |
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 COX6C |
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 COX6C |
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_104619 | chr8 | 99887490:99887618:99891908:99892047:99893639:99893680 | 99891908:99892047 |
exon_skip_112554 | chr8 | 99887514:99887618:99891908:99892052:99893443:99893622 | 99891908:99892052 |
exon_skip_135169 | chr8 | 99878151:99878265:99887490:99887618:99891908:99891958 | 99887490:99887618 |
exon_skip_188396 | chr8 | 99887490:99887618:99891908:99892052:99893443:99893622 | 99891908:99892052 |
exon_skip_194235 | chr8 | 99887532:99887618:99891908:99892052:99893639:99893680 | 99891908:99892052 |
exon_skip_197464 | chr8 | 99878151:99878265:99887490:99887618:99891908:99891921 | 99887490:99887618 |
exon_skip_235977 | chr8 | 99887592:99887618:99891908:99892052:99893639:99893680 | 99891908:99892052 |
exon_skip_256402 | chr8 | 99878151:99878265:99887490:99887618:99891908:99892029 | 99887490:99887618 |
exon_skip_26380 | chr8 | 99887532:99887618:99891908:99892052:99893319:99893623 | 99891908:99892052 |
exon_skip_265901 | chr8 | 99878151:99878265:99887490:99887618:99891908:99892047 | 99887490:99887618 |
exon_skip_28869 | chr8 | 99887490:99887618:99891908:99892052:99893639:99893680 | 99891908:99892052 |
exon_skip_38453 | chr8 | 99887490:99887618:99891908:99892052:99893319:99893623 | 99891908:99892052 |
exon_skip_43042 | chr8 | 99887532:99887618:99891908:99892047:99893639:99893680 | 99891908:99892047 |
exon_skip_60500 | chr8 | 99887592:99887618:99891908:99892047:99893639:99893680 | 99891908:99892047 |
exon_skip_93906 | chr8 | 99887532:99887618:99891908:99892052:99893443:99893622 | 99891908:99892052 |
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 COX6C |
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 |
ENST00000297564 | 99891908 | 99892047 | 3UTR-3CDS |
ENST00000517682 | 99891908 | 99892047 | 3UTR-3CDS |
ENST00000518171 | 99891908 | 99892052 | 3UTR-3CDS |
ENST00000520271 | 99891908 | 99892052 | 3UTR-3CDS |
ENST00000520468 | 99891908 | 99892052 | 3UTR-3CDS |
ENST00000523016 | 99891908 | 99892052 | 3UTR-3CDS |
ENST00000297564 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000517682 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000520271 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000520468 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000522940 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000524245 | 99887490 | 99887618 | 5CDS-5UTR |
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 |
ENST00000297564 | 99891908 | 99892047 | 3UTR-3CDS |
ENST00000517682 | 99891908 | 99892047 | 3UTR-3CDS |
ENST00000518171 | 99891908 | 99892052 | 3UTR-3CDS |
ENST00000520468 | 99891908 | 99892052 | 3UTR-3CDS |
ENST00000523016 | 99891908 | 99892052 | 3UTR-3CDS |
ENST00000297564 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000517682 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000520271 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000520468 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000522940 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000524245 | 99887490 | 99887618 | 5CDS-5UTR |
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 |
ENST00000297564 | 99891908 | 99892047 | 3UTR-3CDS |
ENST00000517682 | 99891908 | 99892047 | 3UTR-3CDS |
ENST00000518171 | 99891908 | 99892052 | 3UTR-3CDS |
ENST00000520271 | 99891908 | 99892052 | 3UTR-3CDS |
ENST00000520468 | 99891908 | 99892052 | 3UTR-3CDS |
ENST00000522940 | 99891908 | 99892052 | 3UTR-3CDS |
ENST00000523016 | 99891908 | 99892052 | 3UTR-3CDS |
ENST00000297564 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000517682 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000520271 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000520468 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000522940 | 99887490 | 99887618 | 5CDS-5UTR |
ENST00000524245 | 99887490 | 99887618 | 5CDS-5UTR |
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Infer the effects of exon skipping event on protein functional features for COX6C |
p-ENSG00000164919_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 COX6C |
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 COX6C |
- 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 COX6C |
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 COX6C |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
CB | exon_skip_43042 | rs1130569 | chr8:99887565 | 1.658343e-07 | 7.490582e-05 |
TC | exon_skip_60500 | rs1130569 | chr8:99887565 | 1.877283e-04 | 2.694292e-02 |
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Correlation with RNA binding proteins (RBPs) for COX6C |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | TRA2A | exon_skip_43042 | -4.678248e-01 | 5.729728e-10 |
DLPFC | SRSF2 | exon_skip_43042 | 4.161427e-01 | 1.491424e-11 |
DLPFC | HNRNPK | exon_skip_43042 | 4.157115e-01 | 1.572662e-11 |
DLPFC | RALYL | exon_skip_43042 | 4.111651e-01 | 2.738501e-11 |
DLPFC | HNRNPH2 | exon_skip_43042 | 4.576440e-01 | 6.260881e-14 |
IFG | MSI1 | exon_skip_104619 | -5.233172e-01 | 1.244342e-02 |
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RelatedDrugs for COX6C |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
P09669 | approved | DB02659 | Cholic Acid | small molecule | P09669 |
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RelatedDiseases for COX6C |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |