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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 GDPD3

check button Gene summary
Gene informationGene symbol

GDPD3

Gene ID

79153

Gene nameglycerophosphodiester phosphodiesterase domain containing 3
SynonymsGDE7
Cytomap

16p11.2

Type of geneprotein-coding
Descriptionlysophospholipase D GDPD3glycerophosphodiester phosphodiesterase 7glycerophosphodiester phosphodiesterase domain-containing protein 3
Modification date20180519
UniProtAcc

Q7L5L3

ContextPubMed: GDPD3 [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

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Exon skipping events across known transcript of Ensembl for GDPD3 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 GDPD3

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 GDPD3

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1438221630116164:30116330:30119441:30119585:30119693:3011975330119441:30119585ENSG00000102886.10ENST00000566434.1
exon_skip_1438241630116164:30116330:30119533:30119585:30119693:3011975330119533:30119585ENSG00000102886.10ENST00000360688.3,ENST00000406256.3
exon_skip_1438271630116164:30116330:30119693:30119753:30122708:3012271130119693:30119753ENSG00000102886.10ENST00000566613.1
exon_skip_1438291630119693:30119753:30122708:30122842:30123452:3012353830122708:30122842ENSG00000102886.10ENST00000360688.3,ENST00000406256.3
exon_skip_1438351630123843:30123889:30123978:30124114:30124342:3012438530123978:30124114ENSG00000102886.10ENST00000406256.3

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

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Exon skipping events with PSIs in GTEx for GDPD3

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1438221630116164:30116330:30119441:30119585:30119693:3011975330119441:30119585ENSG00000102886.10ENST00000566434.1
exon_skip_1438241630116164:30116330:30119533:30119585:30119693:3011975330119533:30119585ENSG00000102886.10ENST00000360688.3,ENST00000406256.3
exon_skip_1438271630116164:30116330:30119693:30119753:30122708:3012271130119693:30119753ENSG00000102886.10ENST00000566613.1
exon_skip_1438291630119693:30119753:30122708:30122842:30123452:3012353830122708:30122842ENSG00000102886.10ENST00000360688.3,ENST00000406256.3

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 GDPD3

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 GDPD3

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 GDPD3

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-A3A0-01exon_skip_143822
30119442301195853011955330119553Frame_Shift_DelA-p.L267fs
LIHCTCGA-DD-A3A0-01exon_skip_143824
30119534301195853011955330119553Frame_Shift_DelA-p.L267fs
LIHCTCGA-G3-A3CJ-01exon_skip_143827
30119694301197533011969630119696Frame_Shift_DelT-p.K255fs
SKCMTCGA-EE-A29C-06exon_skip_143827
30119694301197533011970030119700Frame_Shift_DelG-p.S254fs
LGGTCGA-CS-5397-01exon_skip_143827
30119694301197533011972530119725Frame_Shift_DelG-p.L246fs
BLCATCGA-KQ-A41N-01exon_skip_143822
30119442301195853011956030119560Nonsense_MutationGAp.R265*
BLCATCGA-KQ-A41N-01exon_skip_143824
30119534301195853011956030119560Nonsense_MutationGAp.R265*
HNSCTCGA-CN-4730-01exon_skip_143829
30122709301228423012279830122798Nonsense_MutationCTp.W206*

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
HS863T_FIBROBLAST30122709301228423012271330122715In_Frame_DelTGA-p.I234del
JEG3_PLACENTA30119694301197533011970030119700Missense_MutationGAp.S254L
WM35_SKIN30123979301241143012402330124023Missense_MutationGTp.R92S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GDPD3

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 GDPD3


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GDPD3


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RelatedDrugs for GDPD3

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 GDPD3

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
GDPD3C0023794Lipoidosis3CTD_human