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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 ATP5MC2 |
Gene summary |
Gene information | Gene symbol | ATP5MC2 | Gene ID | 517 |
Gene name | ATP synthase membrane subunit c locus 2 | |
Synonyms | ATP5A|ATP5G2 | |
Cytomap | 12q13.13 | |
Type of gene | protein-coding | |
Description | ATP synthase F(0) complex subunit C2, mitochondrialATP synthase c subunitATP synthase lipid-binding protein, mitochondrialATP synthase proteolipid P2ATP synthase proton-transporting mitochondrial F(0) complex subunit C2ATP synthase, H+ transporting, | |
Modification date | 20200313 | |
UniProtAcc | F8W041, Q06055, | |
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 ATP5MC2 |
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 ATP5MC2 |
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_110499 | chr12 | 53669871:53669948:53672576:53672645:53676053:53676082 | 53672576:53672645 |
exon_skip_116908 | chr12 | 53672576:53672645:53673696:53673812:53676176:53677408 | 53673696:53673812 |
exon_skip_130871 | chr12 | 53669933:53669948:53672576:53672645:53676053:53676082 | 53672576:53672645 |
exon_skip_159644 | chr12 | 53665239:53665428:53669148:53669341:53669871:53669948 | 53669148:53669341 |
exon_skip_174385 | chr12 | 53669222:53669341:53669871:53670114:53672576:53672645 | 53669871:53670114 |
exon_skip_187864 | chr12 | 53669871:53669948:53672576:53672645:53676176:53676728 | 53672576:53672645 |
exon_skip_202351 | chr12 | 53665239:53665428:53669148:53669341:53669871:53669940 | 53669148:53669341 |
exon_skip_208527 | chr12 | 53672576:53672645:53673696:53673812:53676176:53676241 | 53673696:53673812 |
exon_skip_252944 | chr12 | 53669222:53669341:53669871:53669948:53672576:53672645 | 53669871:53669948 |
exon_skip_282249 | chr12 | 53669222:53669341:53669871:53670114:53672576:53672631 | 53669871:53670114 |
exon_skip_30229 | chr12 | 53672576:53672645:53673696:53673812:53676176:53676728 | 53673696:53673812 |
exon_skip_37375 | chr12 | 53665239:53665428:53669148:53669341:53669871:53669942 | 53669148:53669341 |
exon_skip_45139 | chr12 | 53669222:53669341:53669871:53669948:53672576:53672631 | 53669871:53669948 |
exon_skip_61181 | chr12 | 53669871:53670114:53672576:53672645:53676053:53676082 | 53672576:53672645 |
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 ATP5MC2 |
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 |
ENST00000552242 | 53673696 | 53673812 | 3UTR-3UTR |
ENST00000394349 | 53669148 | 53669341 | Frame-shift |
ENST00000549164 | 53669148 | 53669341 | Frame-shift |
ENST00000552242 | 53669148 | 53669341 | Frame-shift |
ENST00000394349 | 53672576 | 53672645 | Frame-shift |
ENST00000394349 | 53669871 | 53669948 | In-frame |
ENST00000549164 | 53669871 | 53669948 | In-frame |
ENST00000552242 | 53669871 | 53669948 | 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 |
ENST00000394349 | 53672576 | 53672645 | Frame-shift |
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 |
ENST00000552242 | 53673696 | 53673812 | 3UTR-3UTR |
ENST00000394349 | 53669148 | 53669341 | Frame-shift |
ENST00000549164 | 53669148 | 53669341 | Frame-shift |
ENST00000552242 | 53669148 | 53669341 | Frame-shift |
ENST00000394349 | 53672576 | 53672645 | Frame-shift |
ENST00000394349 | 53669871 | 53669948 | In-frame |
ENST00000549164 | 53669871 | 53669948 | In-frame |
ENST00000552242 | 53669871 | 53669948 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP5MC2 |
p-ENSG00000135390_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 ATP5MC2 |
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 | ENST00000552242 | 53673696 | 53673812 | hsa-miR-6747-3p | chr12:53673723-53673730 | 8mer-1a | chr12:53673712-53673732 | 153.00 | -25.04 |
Mayo | ENST00000552242 | 53673696 | 53673812 | hsa-miR-744-3p | chr12:53673797-53673804 | 8mer-1a | chr12:53673792-53673812 | 148.00 | -16.44 |
Mayo | ENST00000552242 | 53673696 | 53673812 | hsa-miR-6791-3p | chr12:53673746-53673753 | 8mer-1a | chr12:53673739-53673760 | 167.00 | -29.42 |
Mayo | ENST00000552242 | 53673696 | 53673812 | hsa-miR-642a-5p | chr12:53673804-53673811 | 8mer-1a | chr12:53673792-53673812 | 148.00 | -16.44 |
Mayo | ENST00000552242 | 53673696 | 53673812 | hsa-miR-6819-3p | chr12:53673753-53673760 | 8mer-1a | chr12:53673739-53673760 | 167.00 | -29.42 |
Mayo | ENST00000552242 | 53673696 | 53673812 | hsa-miR-6829-3p | chr12:53673746-53673753 | 8mer-1a | chr12:53673739-53673760 | 167.00 | -29.42 |
Mayo | ENST00000552242 | 53673696 | 53673812 | hsa-miR-4284 | chr12:53673763-53673770 | 8mer-1a | chr12:53673762-53673783 | 154.00 | -18.18 |
Mayo | ENST00000552242 | 53673696 | 53673812 | hsa-miR-6877-3p | chr12:53673753-53673760 | 8mer-1a | chr12:53673739-53673760 | 167.00 | -29.42 |
ROSMAP | ENST00000552242 | 53673696 | 53673812 | hsa-miR-6747-3p | chr12:53673723-53673730 | 8mer-1a | chr12:53673712-53673732 | 153.00 | -25.04 |
ROSMAP | ENST00000552242 | 53673696 | 53673812 | hsa-miR-744-3p | chr12:53673797-53673804 | 8mer-1a | chr12:53673792-53673812 | 148.00 | -16.44 |
ROSMAP | ENST00000552242 | 53673696 | 53673812 | hsa-miR-6791-3p | chr12:53673746-53673753 | 8mer-1a | chr12:53673739-53673760 | 167.00 | -29.42 |
ROSMAP | ENST00000552242 | 53673696 | 53673812 | hsa-miR-642a-5p | chr12:53673804-53673811 | 8mer-1a | chr12:53673792-53673812 | 148.00 | -16.44 |
ROSMAP | ENST00000552242 | 53673696 | 53673812 | hsa-miR-6819-3p | chr12:53673753-53673760 | 8mer-1a | chr12:53673739-53673760 | 167.00 | -29.42 |
ROSMAP | ENST00000552242 | 53673696 | 53673812 | hsa-miR-6829-3p | chr12:53673746-53673753 | 8mer-1a | chr12:53673739-53673760 | 167.00 | -29.42 |
ROSMAP | ENST00000552242 | 53673696 | 53673812 | hsa-miR-4284 | chr12:53673763-53673770 | 8mer-1a | chr12:53673762-53673783 | 154.00 | -18.18 |
ROSMAP | ENST00000552242 | 53673696 | 53673812 | hsa-miR-6877-3p | chr12:53673753-53673760 | 8mer-1a | chr12:53673739-53673760 | 167.00 | -29.42 |
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SNVs in the skipped exons for ATP5MC2 |
- 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 ATP5MC2 |
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 ATP5MC2 |
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 ATP5MC2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ATP5MC2 |
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 ATP5MC2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |