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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 ACO2 |
 Gene summary |
| Gene information | Gene symbol | ACO2 | Gene ID | 50 |
| Gene name | aconitase 2 | |
| Synonyms | ACONM|HEL-S-284|ICRD|OCA8|OPA9 | |
| Cytomap | 22q13.2 | |
| Type of gene | protein-coding | |
| Description | aconitate hydratase, mitochondrialaconitase 2, mitochondrialcitrate hydro-lyaseepididymis secretory sperm binding protein Li 284mitochondrial aconitase | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 25322927(Lymphocytic mitochondrial aconitase activity is reduced in Alzheimer's disease and mild cognitive impairment) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ACO2 | GO:0006099 | tricarboxylic acid cycle | 9630632 |
| ACO2 | GO:0006101 | citrate metabolic process | 9630632 |
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Gene structures and expression levels for ACO2 |
| 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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ENSG00000100412
| 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 | UP | ENST00000481310.1 | ACO2-206:lncRNA:ACO2 | 2.290929e+00 | 8.322401e-01 | 6.348410e-04 | 3.528543e-03 |
| CB | DOWN | ENST00000396512.3 | ACO2-202:protein_coding:ACO2 | 5.615946e+01 | -8.337129e-01 | 1.178244e-02 | 3.973948e-02 |
| TC | DOWN | ENST00000396512.3 | ACO2-202:protein_coding:ACO2 | 7.771398e+01 | -9.235178e-01 | 7.264574e-05 | 1.253023e-03 |
| 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 ACO2 |
| 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_1429 | chr22 | 41469130:41469182:41499726:41499862:41507791:41507844 | 41499726:41499862 |
| exon_skip_144257 | chr22 | 41517527:41517631:41518481:41518572:41520171:41520183 | 41518481:41518572 |
| exon_skip_162399 | chr22 | 41517527:41517631:41518481:41518572:41520171:41520276 | 41518481:41518572 |
| exon_skip_19226 | chr22 | 41508015:41508049:41511876:41511968:41515377:41515535 | 41511876:41511968 |
| exon_skip_21995 | chr22 | 41518481:41518572:41520171:41520276:41522830:41522987 | 41520171:41520276 |
| exon_skip_229730 | chr22 | 41520171:41520276:41522830:41522987:41523205:41523278 | 41522830:41522987 |
| exon_skip_230031 | chr22 | 41515513:41515535:41515767:41515917:41517527:41517631 | 41515767:41515917 |
| exon_skip_231503 | chr22 | 41526262:41526453:41527288:41527420:41527901:41528022 | 41527288:41527420 |
| exon_skip_254317 | chr22 | 41469130:41469182:41499726:41499862:41507791:41507846 | 41499726:41499862 |
| exon_skip_254343 | chr22 | 41517597:41517631:41518481:41518572:41520171:41520276 | 41518481:41518572 |
| exon_skip_280357 | chr22 | 41515767:41515917:41517527:41517631:41518481:41518572 | 41517527:41517631 |
| exon_skip_378 | chr22 | 41469130:41469182:41499726:41499862:41507791:41507845 | 41499726:41499862 |
| exon_skip_56558 | chr22 | 41515513:41515535:41515767:41515992:41517527:41517631 | 41515767:41515992 |
| exon_skip_69185 | chr22 | 41525193:41525348:41526262:41526453:41527288:41527420 | 41526262:41526453 |
| exon_skip_87096 | chr22 | 41469130:41469182:41499726:41499862:41507791:41508049 | 41499726:41499862 |
| 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 ACO2 |
| 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 |
| ENST00000216254 | 41515767 | 41515917 | Frame-shift |
| ENST00000216254 | 41518481 | 41518572 | Frame-shift |
| ENST00000216254 | 41520171 | 41520276 | Frame-shift |
| ENST00000216254 | 41522830 | 41522987 | Frame-shift |
| ENST00000216254 | 41527288 | 41527420 | Frame-shift |
| ENST00000216254 | 41511876 | 41511968 | In-frame |
| ENST00000216254 | 41517527 | 41517631 | In-frame |
| ENST00000216254 | 41526262 | 41526453 | 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 |
| ENST00000216254 | 41515767 | 41515917 | 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 |
| ENST00000216254 | 41515767 | 41515917 | Frame-shift |
| ENST00000216254 | 41518481 | 41518572 | Frame-shift |
| ENST00000216254 | 41520171 | 41520276 | Frame-shift |
| ENST00000216254 | 41522830 | 41522987 | Frame-shift |
| ENST00000216254 | 41527288 | 41527420 | Frame-shift |
| ENST00000216254 | 41517527 | 41517631 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACO2 |
p-ENSG00000100412_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 |
| ENST00000216254 | 2758 | 780 | 41511876 | 41511968 | 456 | 547 | 144 | 175 |
| ENST00000216254 | 2758 | 780 | 41517527 | 41517631 | 859 | 962 | 279 | 313 |
| ENST00000216254 | 2758 | 780 | 41526262 | 41526453 | 1785 | 1975 | 587 | 651 |
| 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 |
| ENST00000216254 | 2758 | 780 | 41517527 | 41517631 | 859 | 962 | 279 | 313 |
| 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 |
| Q99798 | 144 | 175 | 28 | 780 | Chain | ID=PRO_0000000541;Note=Aconitate hydratase%2C mitochondrial |
| Q99798 | 144 | 175 | 144 | 144 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99KI0 |
| Q99798 | 144 | 175 | 144 | 144 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99KI0 |
| Q99798 | 144 | 175 | 159 | 159 | Sequence conflict | Note=A->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99798 | 144 | 175 | 167 | 167 | Sequence conflict | Note=K->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99798 | 279 | 313 | 28 | 780 | Chain | ID=PRO_0000000541;Note=Aconitate hydratase%2C mitochondrial |
| Q99798 | 587 | 651 | 607 | 607 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q99798 | 587 | 651 | 28 | 780 | Chain | ID=PRO_0000000541;Note=Aconitate hydratase%2C mitochondrial |
| Q99798 | 587 | 651 | 591 | 591 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99KI0 |
| Q99798 | 587 | 651 | 605 | 605 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q99798 | 587 | 651 | 605 | 605 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99KI0 |
| Q99798 | 587 | 651 | 628 | 628 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99KI0 |
| 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 |
| Q99798 | 279 | 313 | 28 | 780 | Chain | ID=PRO_0000000541;Note=Aconitate hydratase%2C mitochondrial |
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3'-UTR located exon skipping events that lost miRNA binding sites in ACO2 |
| 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 ACO2 |
| - 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 ACO2 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_87096 | 3.877402e-01 | 4.147720e-02 | chr22 | + | 41469130 | 41469182 | 41499726 | 41499862 | 41507791 | 41508049 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACO2 |
| 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 ACO2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ACO2 |
| 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 ACO2 |
| 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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