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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 GAPDH

check button Gene summary
Gene informationGene symbol

GAPDH

Gene ID

2597

Gene nameglyceraldehyde-3-phosphate dehydrogenase
SynonymsG3PD|GAPD|HEL-S-162eP
Cytomap

12p13.31

Type of geneprotein-coding
Descriptionglyceraldehyde-3-phosphate dehydrogenaseOCAS, p38 componentOct1 coactivator in S phase, 38 Kd componentaging-associated gene 9 proteinepididymis secretory sperm binding protein Li 162ePpeptidyl-cysteine S-nitrosylase GAPDH
Modification date20200327
UniProtAcc

E7EUT5,

P04406,

Q0QET7,

Context- 25246025(Glyceraldehyde-3-phosphate Dehydrogenase (GAPDH) and Alzheimer's Disease)

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

GO:0010951

negative regulation of endopeptidase activity

22832495

GAPDH

GO:0017148

negative regulation of translation

23071094

GAPDH

GO:0031640

killing of cells of other organism

22832495

GAPDH

GO:0050715

positive regulation of cytokine secretion

22832495

GAPDH

GO:0050832

defense response to fungus

22832495

GAPDH

GO:0051873

killing by host of symbiont cells

22832495

GAPDH

GO:0052501

positive regulation by organism of apoptotic process in other organism involved in symbiotic interaction

22832495

GAPDH

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

22832495

GAPDH

GO:0071346

cellular response to interferon-gamma

15479637


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Gene structures and expression levels for GAPDH

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

ENSG00000111640
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
CBDOWNENST00000619601.1GAPDH-211:protein_coding:GAPDH6.188231e+03-1.076276e+003.669105e-089.080881e-07

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 GAPDH

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_185379chr126534541:6534569:6534810:6534991:6536494:65365936534810:6534991
exon_skip_192977chr126537309:6537390:6537584:6537996:6538101:65383146537584:6537996
exon_skip_227516chr126534541:6534569:6534810:6534861:6536494:65365936534810:6534861
exon_skip_94701chr126537309:6537390:6537584:6537996:6538101:65381216537584:6537996

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 GAPDH

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
ENST00000229239653481065348615CDS-5UTR
ENST0000022923965375846537996Frame-shift
ENST0000039685965375846537996Frame-shift
ENST0000039686165375846537996Frame-shift

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
ENST00000229239653481065348615CDS-5UTR
ENST0000022923965375846537996Frame-shift
ENST0000039685965375846537996Frame-shift
ENST0000039686165375846537996Frame-shift

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

p-ENSG00000111640_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

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


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

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 GAPDH

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 GAPDH

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 GAPDH

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 GAPDH

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

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RelatedDrugs for GAPDH

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P04406approved|withdrawnDB09092Xanthinolsmall moleculeP04406

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RelatedDiseases for GAPDH

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