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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 ALDH1A2 |
Gene summary |
Gene information | Gene symbol | ALDH1A2 | Gene ID | 8854 |
Gene name | aldehyde dehydrogenase 1 family member A2 | |
Synonyms | RALDH(II)|RALDH2|RALDH2-T | |
Cytomap | 15q21.3 | |
Type of gene | protein-coding | |
Description | retinal dehydrogenase 2RALDH 2retinaldehyde-specific dehydrogenase type 2 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 23168450(Long-term exercise modulates hippocampal gene expression in senescent female mice) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
ALDH1A2 | GO:0002138 | retinoic acid biosynthetic process | 29240402 |
ALDH1A2 | GO:0008285 | negative regulation of cell proliferation | 16166285 |
ALDH1A2 | GO:0034097 | response to cytokine | 18495959 |
ALDH1A2 | GO:0051289 | protein homotetramerization | 29240402 |
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Gene structures and expression levels for ALDH1A2 |
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 | DOWN | ENST00000560312.5 | ALDH1A2-221:retained_intron:ALDH1A2 | 1.175871e+01 | -2.150653e+00 | 1.588979e-04 | 1.097408e-03 |
CB | DOWN | ENST00000559297.5 | ALDH1A2-216:lncRNA:ALDH1A2 | 7.735798e-01 | -1.228351e+00 | 4.633484e-04 | 2.700901e-03 |
TC | DOWN | ENST00000558384.1 | ALDH1A2-209:nonsense_mediated_decay:ALDH1A2 | 1.349424e+00 | -2.222151e+00 | 9.575577e-05 | 1.557869e-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 ALDH1A2 |
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_117710 | chr15 | 57965725:57965827:57992705:57992818:57992945:57993073 | 57992705:57992818 |
exon_skip_226919 | chr15 | 58014261:58014281:58107319:58107468:58138447:58138572 | 58107319:58107468 |
exon_skip_60422 | chr15 | 58014177:58014281:58107319:58107468:58138447:58138825 | 58107319:58107468 |
exon_skip_93698 | chr15 | 58107417:58107468:58138447:58138572:58279174:58279227 | 58138447:58138572 |
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 ALDH1A2 |
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 |
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 |
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 |
ENST00000249750 | 57992705 | 57992818 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ALDH1A2 |
p-ENSG00000128918_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 |
ENST00000249750 | 4115 | 518 | 57992705 | 57992818 | 1453 | 1565 | 228 | 265 |
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 |
O94788 | 228 | 265 | 229 | 266 | Alternative sequence | ID=VSP_017363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
O94788 | 228 | 265 | 235 | 238 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6ALJ |
O94788 | 228 | 265 | 258 | 263 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6ALJ |
O94788 | 228 | 265 | 1 | 518 | Chain | ID=PRO_0000056422;Note=Retinal dehydrogenase 2 |
O94788 | 228 | 265 | 217 | 229 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6ALJ |
O94788 | 228 | 265 | 246 | 251 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6ALJ |
O94788 | 228 | 265 | 265 | 277 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6ALJ |
O94788 | 228 | 265 | 263 | 268 | Nucleotide binding | Note=NAD;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
O94788 | 228 | 265 | 231 | 231 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
O94788 | 228 | 265 | 243 | 245 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6ALJ |
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3'-UTR located exon skipping events that lost miRNA binding sites in ALDH1A2 |
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 ALDH1A2 |
- 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 ALDH1A2 |
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 ALDH1A2 |
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 ALDH1A2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ALDH1A2 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
O94788 | approved|nutraceutical|vet_approved | DB00162 | Vitamin A | small molecule | O94788 |
O94788 | approved|investigational|nutraceutical | DB00755 | Tretinoin | small molecule | O94788 |
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RelatedDiseases for ALDH1A2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |