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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 COA1 |
Gene summary |
Gene information | Gene symbol | COA1 | Gene ID | 55744 |
Gene name | cytochrome c oxidase assembly factor 1 homolog | |
Synonyms | C7orf44|MITRAC15 | |
Cytomap | 7p13 | |
Type of gene | protein-coding | |
Description | cytochrome c oxidase assembly factor 1 homologcytochrome c oxidase assembly protein 1 homologmitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa | |
Modification date | 20200313 | |
UniProtAcc | ||
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 COA1 |
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 | ENST00000407230.5 | NCOA1-206:protein_coding:NCOA1 | 9.935717e+01 | 1.011730e+00 | 1.173605e-05 | 1.205486e-04 |
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 COA1 |
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_114595 | chr7 | 43640573:43640649:43645251:43645399:43647535:43647634 | 43645251:43645399 |
exon_skip_121698 | chr7 | 43648600:43648652:43650612:43650712:43729429:43729474 | 43650612:43650712 |
exon_skip_149572 | chr7 | 43657222:43657269:43665658:43665722:43729429:43729474 | 43665658:43665722 |
exon_skip_158307 | chr7 | 43648600:43648652:43650493:43650712:43729429:43729474 | 43650493:43650712 |
exon_skip_159493 | chr7 | 43657222:43657269:43658712:43659144:43729429:43729474 | 43658712:43659144 |
exon_skip_167494 | chr7 | 43648600:43648652:43650612:43650712:43656033:43656153 | 43650612:43650712 |
exon_skip_199340 | chr7 | 43648600:43648652:43711400:43711449:43729429:43729474 | 43711400:43711449 |
exon_skip_209379 | chr7 | 43648600:43648652:43665658:43665722:43729429:43729474 | 43665658:43665722 |
exon_skip_291798 | chr7 | 43645251:43645399:43647535:43647634:43648600:43648614 | 43647535:43647634 |
exon_skip_9097 | chr7 | 43656033:43656153:43657216:43657269:43665658:43665722 | 43657216:43657269 |
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 COA1 |
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 |
ENST00000310564 | 43650493 | 43650712 | 3UTR-3UTR |
ENST00000223336 | 43645251 | 43645399 | Frame-shift |
ENST00000310564 | 43645251 | 43645399 | Frame-shift |
ENST00000395879 | 43645251 | 43645399 | Frame-shift |
ENST00000223336 | 43647535 | 43647634 | Frame-shift |
ENST00000310564 | 43647535 | 43647634 | Frame-shift |
ENST00000395879 | 43647535 | 43647634 | Frame-shift |
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 |
ENST00000310564 | 43650493 | 43650712 | 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 |
ENST00000310564 | 43650493 | 43650712 | 3UTR-3UTR |
ENST00000223336 | 43645251 | 43645399 | Frame-shift |
ENST00000310564 | 43645251 | 43645399 | Frame-shift |
ENST00000395879 | 43645251 | 43645399 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for COA1 |
p-ENSG00000106603_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 COA1 |
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 | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3064-3p | chr7:43650700-43650707 | 8mer-1a | chr7:43650686-43650707 | 147.00 | -18.52 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4524b-5p | chr7:43650636-43650643 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4524a-5p | chr7:43650636-43650643 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3188 | chr7:43650650-43650657 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-646 | chr7:43650635-43650642 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-659-5p | chr7:43650580-43650587 | 8mer-1a | chr7:43650569-43650591 | 149.00 | -24.73 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3921 | chr7:43650675-43650682 | 8mer-1a | chr7:43650660-43650682 | 147.00 | -18.58 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-339-5p | chr7:43650557-43650564 | 8mer-1a | chr7:43650541-43650564 | 146.00 | -20.30 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4649-3p | chr7:43650652-43650659 | 8mer-1a | chr7:43650643-43650668 | 141.00 | -27.16 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4653-5p | chr7:43650675-43650682 | 8mer-1a | chr7:43650660-43650682 | 147.00 | -18.58 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4468 | chr7:43650546-43650553 | 8mer-1a | chr7:43650542-43650563 | 158.00 | -19.58 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3152-3p | chr7:43650640-43650647 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3915 | chr7:43650510-43650517 | 8mer-1a | chr7:43650495-43650517 | 151.00 | -14.97 |
Mayo | ENST00000310564 | 43650493 | 43650712 | hsa-miR-891a-3p | chr7:43650519-43650526 | 8mer-1a | chr7:43650505-43650526 | 142.00 | -15.83 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3064-3p | chr7:43650700-43650707 | 8mer-1a | chr7:43650686-43650707 | 147.00 | -18.52 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4524b-5p | chr7:43650636-43650643 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4524a-5p | chr7:43650636-43650643 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3188 | chr7:43650650-43650657 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-646 | chr7:43650635-43650642 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-659-5p | chr7:43650580-43650587 | 8mer-1a | chr7:43650569-43650591 | 149.00 | -24.73 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3921 | chr7:43650675-43650682 | 8mer-1a | chr7:43650660-43650682 | 147.00 | -18.58 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-339-5p | chr7:43650557-43650564 | 8mer-1a | chr7:43650541-43650564 | 146.00 | -20.30 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4649-3p | chr7:43650652-43650659 | 8mer-1a | chr7:43650643-43650668 | 141.00 | -27.16 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4653-5p | chr7:43650675-43650682 | 8mer-1a | chr7:43650660-43650682 | 147.00 | -18.58 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4468 | chr7:43650546-43650553 | 8mer-1a | chr7:43650542-43650563 | 158.00 | -19.58 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3152-3p | chr7:43650640-43650647 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3915 | chr7:43650510-43650517 | 8mer-1a | chr7:43650495-43650517 | 151.00 | -14.97 |
MSBB | ENST00000310564 | 43650493 | 43650712 | hsa-miR-891a-3p | chr7:43650519-43650526 | 8mer-1a | chr7:43650505-43650526 | 142.00 | -15.83 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3064-3p | chr7:43650700-43650707 | 8mer-1a | chr7:43650686-43650707 | 147.00 | -18.52 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4524b-5p | chr7:43650636-43650643 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4524a-5p | chr7:43650636-43650643 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3188 | chr7:43650650-43650657 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-646 | chr7:43650635-43650642 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-659-5p | chr7:43650580-43650587 | 8mer-1a | chr7:43650569-43650591 | 149.00 | -24.73 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3921 | chr7:43650675-43650682 | 8mer-1a | chr7:43650660-43650682 | 147.00 | -18.58 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-339-5p | chr7:43650557-43650564 | 8mer-1a | chr7:43650541-43650564 | 146.00 | -20.30 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4649-3p | chr7:43650652-43650659 | 8mer-1a | chr7:43650643-43650668 | 141.00 | -27.16 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4653-5p | chr7:43650675-43650682 | 8mer-1a | chr7:43650660-43650682 | 147.00 | -18.58 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-4468 | chr7:43650546-43650553 | 8mer-1a | chr7:43650542-43650563 | 158.00 | -19.58 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3152-3p | chr7:43650640-43650647 | 8mer-1a | chr7:43650635-43650657 | 158.00 | -23.62 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-3915 | chr7:43650510-43650517 | 8mer-1a | chr7:43650495-43650517 | 151.00 | -14.97 |
ROSMAP | ENST00000310564 | 43650493 | 43650712 | hsa-miR-891a-3p | chr7:43650519-43650526 | 8mer-1a | chr7:43650505-43650526 | 142.00 | -15.83 |
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SNVs in the skipped exons for COA1 |
- 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 COA1 |
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 COA1 |
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 COA1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBM45 | exon_skip_209379 | 5.503059e-01 | 5.732996e-14 |
IFG | PCBP2 | exon_skip_209379 | -4.140292e-01 | 3.548965e-02 |
IFG | EIF4B | exon_skip_209379 | 4.455091e-01 | 2.255533e-02 |
TC | RBM45 | exon_skip_209379 | 4.222267e-01 | 2.679347e-08 |
TC | KHDRBS2 | exon_skip_291722 | 4.917670e-01 | 1.080573e-10 |
TC | KHDRBS3 | exon_skip_291722 | 4.213733e-01 | 5.825427e-08 |
TC | HNRNPDL | exon_skip_291722 | 4.168017e-01 | 8.359256e-08 |
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RelatedDrugs for COA1 |
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 COA1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |