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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 LPCAT1

check button Gene summary
Gene informationGene symbol

LPCAT1

Gene ID

79888

Gene namelysophosphatidylcholine acyltransferase 1
SynonymsAGPAT10|AGPAT9|AYTL2|LPCAT-1|PFAAP3|lpcat|lysoPAFAT
Cytomap

5p15.33

Type of geneprotein-coding
Descriptionlysophosphatidylcholine acyltransferase 11-acylglycerophosphocholine O-acyltransferase1-alkylglycerophosphocholine O-acetyltransferaseLPC acyltransferase 1acetyl-CoA:lyso-PAF acetyltransferaseacetyl-CoA:lyso-platelet-activating factor acetyltransfera
Modification date20180519
UniProtAcc

Q8NF37

ContextPubMed: LPCAT1 [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
LPCAT1

GO:0036151

phosphatidylcholine acyl-chain remodeling

21498505


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Exon skipping events across known transcript of Ensembl for LPCAT1 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 LPCAT1

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 LPCAT1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_44092051461954:1463950:1466863:1467005:1470940:14710391466863:1467005ENSG00000153395.5ENST00000475622.1,ENST00000283415.3
exon_skip_44094451466863:1467005:1470940:1471039:1474071:14742251470940:1471039ENSG00000153395.5ENST00000475622.1,ENST00000283415.3
exon_skip_44095751470940:1471039:1474071:1474225:1474674:14748001474071:1474225ENSG00000153395.5ENST00000475622.1,ENST00000283415.3
exon_skip_44096151474071:1474225:1474674:1474800:1477518:14776011474674:1474800ENSG00000153395.5ENST00000475622.1,ENST00000283415.3
exon_skip_44096951477518:1477601:1479735:1479790:1481056:14810911479735:1479790ENSG00000153395.5ENST00000475622.1,ENST00000283415.3
exon_skip_44097051481056:1481091:1483542:1483601:1488505:14885661483542:1483601ENSG00000153395.5ENST00000475622.1,ENST00000513757.1,ENST00000283415.3
exon_skip_44097451489860:1489973:1494814:1495029:1501575:15017181494814:1495029ENSG00000153395.5ENST00000475622.1,ENST00000283415.3,ENST00000514484.2
exon_skip_44098251501575:1501718:1521461:1521595:1523824:15238551521461:1521595ENSG00000153395.5ENST00000514484.2

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

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Exon skipping events with PSIs in GTEx for LPCAT1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_44092051461954:1463950:1466863:1467005:1470940:14710391466863:1467005ENSG00000153395.5ENST00000475622.1,ENST00000283415.3
exon_skip_44094451466863:1467005:1470940:1471039:1474071:14742251470940:1471039ENSG00000153395.5ENST00000475622.1,ENST00000283415.3
exon_skip_44095751470940:1471039:1474071:1474225:1474674:14748001474071:1474225ENSG00000153395.5ENST00000475622.1,ENST00000283415.3
exon_skip_44096151474071:1474225:1474674:1474800:1477518:14776011474674:1474800ENSG00000153395.5ENST00000475622.1,ENST00000283415.3
exon_skip_44096951477518:1477601:1479735:1479790:1481056:14810911479735:1479790ENSG00000153395.5ENST00000475622.1,ENST00000283415.3
exon_skip_44097051481056:1481091:1483542:1483601:1488505:14885661483542:1483601ENSG00000153395.5ENST00000475622.1,ENST00000283415.3,ENST00000513757.1
exon_skip_44097451489860:1489973:1494814:1495029:1501575:15017181494814:1495029ENSG00000153395.5ENST00000475622.1,ENST00000283415.3,ENST00000514484.2
exon_skip_44098251501575:1501718:1521461:1521595:1523824:15238551521461:1521595ENSG00000153395.5ENST00000514484.2

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 LPCAT1

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 LPCAT1

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 LPCAT1

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.
LPCAT1_COAD_exon_skip_440961_psi_boxplot.png
boxplot
LPCAT1_LIHC_exon_skip_440961_psi_boxplot.png
boxplot

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_440920
1466864146700514669051466905Frame_Shift_DelA-p.F460fs
STADTCGA-BR-A4CQ-01exon_skip_440944
1470941147103914710361471052Frame_Shift_DelCGCTCTGTGGGGAGAGA-p.394_395del
LIHCTCGA-DD-A1EG-01exon_skip_440961
1474675147480014747851474785Frame_Shift_DelG-p.S305fs
STADTCGA-BR-4292-01exon_skip_440920
1466864146700514669031466903Nonsense_MutationGAp.R461*
STADTCGA-BR-4292-01exon_skip_440920
1466864146700514669031466903Nonsense_MutationGAp.R461X
UCECTCGA-B5-A0JY-01exon_skip_440974
1494815149502914948911494891Nonsense_MutationGAp.R135*
LIHCTCGA-DD-A39X-01exon_skip_440920
1466864146700514670071467007Splice_SiteTC.
COADTCGA-DM-A28K-01exon_skip_440961
1474675147480014746741474674Splice_SiteCT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
LPCAT1_1474071_1474225_1474674_1474800_1477518_1477601_TCGA-DM-A28K-01Sample: TCGA-DM-A28K-01
Cancer type: COAD
ESID: exon_skip_440961
Skipped exon start: 1474675
Skipped exon end: 1474800
Mutation start: 1474674
Mutation end: 1474674
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: .
exon_skip_440961_COAD_TCGA-DM-A28K-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
OC316_OVARY1466864146700514669781466978Missense_MutationCTp.V436I
OC314_OVARY1466864146700514669781466978Missense_MutationCTp.V436I
OE19_OESOPHAGUS1470941147103914709611470961Missense_MutationTCp.T420A
HEC265_ENDOMETRIUM1470941147103914709641470964Missense_MutationCTp.D419N
CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1470941147103914709731470973Missense_MutationGCp.R416G
KYSE180_OESOPHAGUS1474072147422514741151474115Missense_MutationGAp.P379L
T47D_BREAST1474072147422514741271474127Missense_MutationGAp.S375F
OCIMY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1474072147422514741611474161Missense_MutationCTp.G364R
RKO_LARGE_INTESTINE1474675147480014746961474696Missense_MutationGAp.A335V
LS411N_LARGE_INTESTINE1494815149502914948341494834Missense_MutationTGp.R158S
LN464_CENTRAL_NERVOUS_SYSTEM1494815149502914948781494878Missense_MutationCAp.V144L
HCC2998_LARGE_INTESTINE1494815149502914948901494890Missense_MutationCTp.D140N
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1494815149502914949101494910Missense_MutationGAp.A133V
MCC13_SKIN1494815149502914949251494925Missense_MutationGAp.A128V
OVISE_OVARY1494815149502914949591494959Missense_MutationCTp.V117M
RERFLCFM_LUNG1494815149502914949591494959Missense_MutationCTp.V117M
LS411N_LARGE_INTESTINE1494815149502914949941494994Missense_MutationGCp.T105S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LPCAT1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_44092051461954:1463950:1466863:1467005:1470940:14710391466863:1467005ENST00000475622.1,ENST00000283415.3OVrs35452723chr5:1467004A/G3.52e-04
exon_skip_44092051461954:1463950:1466863:1467005:1470940:14710391466863:1467005ENST00000475622.1,ENST00000283415.3OVrs35452723chr5:1467004A/G3.62e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LPCAT1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LPCAT1


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RelatedDrugs for LPCAT1

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 LPCAT1

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