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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 TCGA

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Exon skipping events with PSIs in GTEx

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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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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for DDO

check button Gene summary
Gene informationGene symbol

DDO

Gene ID

8528

Gene nameD-aspartate oxidase
SynonymsDASOX|DDO-1|DDO-2
Cytomap

6q21

Type of geneprotein-coding
DescriptionD-aspartate oxidaseD-aspartate oxidase, DDOaspartic oxidase
Modification date20180522
UniProtAcc

Q99489

ContextPubMed: DDO [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

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

GO:0019478

D-amino acid catabolic process

20603179


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Exon skipping events across known transcript of Ensembl for DDO from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx 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

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Gene isoform structures and expression levels for DDO

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for DDO

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4617846110712973:110714545:110725976:110726153:110729536:110729645110725976:110726153ENSG00000203797.5ENST00000368924.3
exon_skip_4617876110725976:110726153:110729536:110729645:110734493:110734669110729536:110729645ENSG00000203797.5ENST00000368924.3
exon_skip_4617906110729536:110729645:110734493:110734669:110736669:110736765110734493:110734669ENSG00000203797.5ENST00000368923.3

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for DDO

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4617846110712973:110714545:110725976:110726153:110729536:110729645110725976:110726153ENSG00000203797.5ENST00000368924.3
exon_skip_4617906110729536:110729645:110734493:110734669:110736669:110736765110734493:110734669ENSG00000203797.5ENST00000368923.3

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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

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

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

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA 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 GTEx 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 TCGA.
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 GTEx.
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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SNVs in the skipped exons for DDO

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

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

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_461784
110725977110726153110726023110726023Frame_Shift_DelT-p.T166fs
UCECTCGA-B5-A0K9-01exon_skip_461784
110725977110726153110726027110726027Frame_Shift_DelA-p.F164fs
UCECTCGA-BK-A0C9-01exon_skip_461784
110725977110726153110726050110726050Frame_Shift_DelG-p.Q157fs
BLCATCGA-DK-A6AW-01exon_skip_461784
110725977110726153110726086110726086Nonsense_MutationGAp.R145*
SKCMTCGA-EB-A5UL-06exon_skip_461784
110725977110726153110726086110726086Nonsense_MutationGAp.R145*
SKCMTCGA-EB-A5UL-06exon_skip_461784
110725977110726153110726086110726086Nonsense_MutationGAp.R145X
UCECTCGA-AX-A0J0-01exon_skip_461787
110729537110729645110729610110729610Nonsense_MutationCAp.E98*
THYMTCGA-XU-A930-01exon_skip_461787
110729537110729645110729536110729536Splice_SiteCT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
CAPAN1_PANCREAS110725977110726153110726032110726041Frame_Shift_DelCCTGACCAAA-p.FGQA160fs
NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE110734494110734669110734549110734553Frame_Shift_DelAGTAA-p.FT66fs
MFE319_ENDOMETRIUM110725977110726153110726047110726047Missense_MutationAGp.Y158H
RERFLCMS_LUNG110725977110726153110726085110726085Missense_MutationCTp.R145Q
RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE110725977110726153110726110110726110Missense_MutationAGp.W137R
HCC2218_BREAST110725977110726153110726111110726111Missense_MutationGCp.F136L
SCC9_UPPER_AERODIGESTIVE_TRACT110734494110734669110734506110734506Missense_MutationGTp.H82N
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE110734494110734669110734523110734523Missense_MutationGAp.A76V
HSC3_UPPER_AERODIGESTIVE_TRACT110734494110734669110734560110734560Missense_MutationCAp.D64Y
OV90_OVARY110734494110734669110734563110734563Missense_MutationACp.S63A
GP5D_LARGE_INTESTINE110734494110734669110734604110734604Missense_MutationCTp.C49Y
TC138_BONE110725977110726153110726086110726086Nonsense_MutationGAp.R145*
CAPAN1_PANCREAS110725977110726153110725978110725978Splice_SiteT-p.R181fs

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDO


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDO


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RelatedDrugs for DDO

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DDO

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
DDOC0036341Schizophrenia1PSYGENET