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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for ALDH1A2

check button Gene summary
Gene informationGene symbol

ALDH1A2

Gene ID

8854

Gene namealdehyde dehydrogenase 1 family member A2
SynonymsRALDH(II)|RALDH2|RALDH2-T
Cytomap

15q21.3

Type of geneprotein-coding
Descriptionretinal dehydrogenase 2RALDH 2retinaldehyde-specific dehydrogenase type 2
Modification date20200313
UniProtAcc

A0A0G2JL97,

E9PF31,

H0YKL3,

H0YMG7,

H0YMT5,

O94788,

Q9UED3,

Context- 23168450(Long-term exercise modulates hippocampal gene expression in senescent female mice)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed 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

check buttonSkipped 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.
all structure

ENSG00000128918
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBDOWNENST00000560312.5ALDH1A2-221:retained_intron:ALDH1A21.175871e+01-2.150653e+001.588979e-041.097408e-03
CBDOWNENST00000559297.5ALDH1A2-216:lncRNA:ALDH1A27.735798e-01-1.228351e+004.633484e-042.700901e-03
TCDOWNENST00000558384.1ALDH1A2-209:nonsense_mediated_decay:ALDH1A21.349424e+00-2.222151e+009.575577e-051.557869e-03

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ALDH1A2

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_117710chr1557965725:57965827:57992705:57992818:57992945:5799307357992705:57992818
exon_skip_226919chr1558014261:58014281:58107319:58107468:58138447:5813857258107319:58107468
exon_skip_60422chr1558014177:58014281:58107319:58107468:58138447:5813882558107319:58107468
exon_skip_93698chr1558107417:58107468:58138447:58138572:58279174:5827922758138447:58138572

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for ALDH1A2

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002497505799270557992818In-frame

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Infer the effects of exon skipping event on protein functional features for ALDH1A2

p-ENSG00000128918_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002497504115518579927055799281814531565228265

check button 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 featureDescription of feature

check button 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 featureDescription of feature

check button 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 featureDescription of feature
O94788228265229266Alternative sequenceID=VSP_017363;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O94788228265235238Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6ALJ
O94788228265258263Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6ALJ
O947882282651518ChainID=PRO_0000056422;Note=Retinal dehydrogenase 2
O94788228265217229HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6ALJ
O94788228265246251HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6ALJ
O94788228265265277HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6ALJ
O94788228265263268Nucleotide bindingNote=NAD;Ontology_term=ECO:0000250;evidence=ECO:0000250
O94788228265231231Sequence conflictNote=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
O94788228265243245TurnOntology_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

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for ALDH1A2

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for ALDH1A2

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ALDH1A2

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for ALDH1A2

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for ALDH1A2

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
O94788approved|nutraceutical|vet_approvedDB00162Vitamin Asmall moleculeO94788
O94788approved|investigational|nutraceuticalDB00755Tretinoinsmall moleculeO94788

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RelatedDiseases for ALDH1A2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource