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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 LPIN1

check button Gene summary
Gene informationGene symbol

LPIN1

Gene ID

23175

Gene namelipin 1
SynonymsPAP1
Cytomap

2p25.1

Type of geneprotein-coding
Descriptionphosphatidate phosphatase LPIN1
Modification date20200313
UniProtAcc

A0A0A0MS66,

C9IYP2,

C9J278,

H7C3T1,

Q14693,

Context

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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Gene structures and expression levels for LPIN1

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

ENSG00000134324
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
STGUPENST00000404113.6LPIN1-205:lncRNA:LPIN13.742179e+018.392909e-013.699602e-042.325190e-02
CBUPENST00000441684.5LPIN1-208:protein_coding:LPIN12.700881e+001.234526e+004.575864e-042.672936e-03
CBUPENST00000396098.5LPIN1-203:protein_coding:LPIN13.901276e+001.100899e+005.955372e-043.343003e-03
CBDOWNENST00000396097.5LPIN1-202:protein_coding:LPIN18.406854e+01-9.410501e-018.618300e-044.556384e-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 LPIN1

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_109349chr211788387:11788456:11791914:11792006:11795408:1179548711791914:11792006
exon_skip_11167chr211805070:11805156:11815088:11815240:11819484:1181959811815088:11815240
exon_skip_15700chr211773620:11773745:11776086:11776193:11779519:1177964511776086:11776193
exon_skip_201883chr211815088:11815240:11819484:11819598:11820411:1182051411819484:11819598
exon_skip_237465chr211819564:11819598:11820411:11820514:11824632:1182486311820411:11820514
exon_skip_42887chr211746638:11746671:11763023:11763286:11765533:1176559911763023:11763286
exon_skip_64242chr211787130:11787167:11788387:11788456:11791708:1179178511788387:11788456
exon_skip_69062chr211788387:11788456:11791708:11791785:11791914:1179200611791708:11791785
exon_skip_71391chr211763023:11763286:11764204:11764289:11765533:1176559911764204:11764289

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 LPIN1

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
ENST000002567201179191411792006In-frame
ENST000002567201181508811815240In-frame

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
ENST000002567201179191411792006In-frame

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
ENST000002567201181948411819598Frame-shift
ENST000002567201182041111820514Frame-shift
ENST000002567201179191411792006In-frame
ENST000002567201181508811815240In-frame

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Infer the effects of exon skipping event on protein functional features for LPIN1

p-ENSG00000134324_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
ENST000002567205401890117919141179200617001791535566
ENST000002567205401890118150881181524022362387714764

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
ENST000002567205401890117919141179200617001791535566

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
ENST000002567205401890117919141179200617001791535566
ENST000002567205401890118150881181524022362387714764

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
Q14693535566418890Alternative sequenceID=VSP_055362;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q14693535566535535Alternative sequenceID=VSP_053971;Note=In isoform 4. K->KSSCLSYLHVILDAIRFCFSKIFNAQI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q146935355661890ChainID=PRO_0000209879;Note=Phosphatidate phosphatase LPIN1
Q14693535566565565Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14693535566535535Sequence conflictNote=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14693714764418890Alternative sequenceID=VSP_055362;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q146937147641890ChainID=PRO_0000209879;Note=Phosphatidate phosphatase LPIN1
Q14693714764624830RegionNote=C-LIP

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
Q14693535566418890Alternative sequenceID=VSP_055362;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q14693535566535535Alternative sequenceID=VSP_053971;Note=In isoform 4. K->KSSCLSYLHVILDAIRFCFSKIFNAQI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q146935355661890ChainID=PRO_0000209879;Note=Phosphatidate phosphatase LPIN1
Q14693535566565565Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14693535566535535Sequence conflictNote=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q14693535566418890Alternative sequenceID=VSP_055362;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q14693535566535535Alternative sequenceID=VSP_053971;Note=In isoform 4. K->KSSCLSYLHVILDAIRFCFSKIFNAQI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q146935355661890ChainID=PRO_0000209879;Note=Phosphatidate phosphatase LPIN1
Q14693535566565565Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000250;evidence=ECO:0000250
Q14693535566535535Sequence conflictNote=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q14693714764418890Alternative sequenceID=VSP_055362;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q146937147641890ChainID=PRO_0000209879;Note=Phosphatidate phosphatase LPIN1
Q14693714764624830RegionNote=C-LIP


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3'-UTR located exon skipping events that lost miRNA binding sites in LPIN1

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 LPIN1

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 LPIN1

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 LPIN1

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 LPIN1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBPCBP1exon_skip_15700-4.012999e-012.280390e-07
CBHNRNPABexon_skip_15700-4.485096e-014.838963e-09
CBRBM23exon_skip_15700-4.395870e-011.049330e-08
CBKHSRPexon_skip_690624.032507e-011.794605e-07
DLPFCKHDRBS2exon_skip_690625.751134e-011.753100e-29
DLPFCCPEB1exon_skip_690624.544467e-011.160917e-17
FLELAVL4exon_skip_690625.091799e-011.352005e-13
FLKHDRBS3exon_skip_690624.356389e-015.735865e-10
FLRALYLexon_skip_690624.550251e-017.666807e-11
HCCPCBP4exon_skip_157004.850299e-012.442999e-17
HCCSRSF5exon_skip_157004.893361e-011.158846e-17
HCCDAZAP1exon_skip_69062-5.714006e-016.886473e-25
HCCSFPQexon_skip_69062-6.070734e-011.115335e-28
HCCTRNAU1APexon_skip_69062-5.259941e-011.102451e-20
HCCRBM47exon_skip_69062-4.527925e-014.193573e-15
HCCKHDRBS2exon_skip_690624.164568e-018.578867e-13
HCCKHDRBS3exon_skip_69062-4.736669e-011.462468e-16
HCCPUF60exon_skip_69062-4.121489e-011.546960e-12
HCCPABPC1exon_skip_69062-4.598883e-011.374852e-15
IFGRBM23exon_skip_107079-4.372092e-012.885421e-02
IFGELAVL4exon_skip_690625.143174e-015.110467e-03
IFGPABPN1Lexon_skip_69062-4.547138e-011.505461e-02
IFGRBM47exon_skip_69062-4.059243e-013.209159e-02
IFGRALYLexon_skip_690624.126596e-012.908431e-02
PCCELAVL4exon_skip_690624.978581e-012.305326e-14
PCCCPEB1exon_skip_690625.066055e-016.797608e-15
PGELAVL4exon_skip_690626.974079e-011.075326e-27
PGELAVL1exon_skip_690624.287564e-011.725398e-09
PGKHDRBS2exon_skip_690625.458598e-011.912358e-15
PGKHDRBS3exon_skip_690626.245841e-015.701026e-21
PGHNRNPA0exon_skip_690625.130025e-011.540286e-13
PGHNRNPDLexon_skip_690624.006600e-012.285114e-08
PGHNRNPCexon_skip_690625.024516e-015.719817e-13
PGRALYLexon_skip_690626.669888e-011.177294e-24
PGCELF1exon_skip_690625.274900e-012.357892e-14
PGCPEB1exon_skip_690625.963179e-018.220615e-19
PGNOVA1exon_skip_690625.169604e-019.305754e-14
STGELAVL4exon_skip_690625.828573e-015.989535e-09
STGELAVL1exon_skip_690624.299559e-014.470258e-05
STGKHDRBS2exon_skip_690625.479860e-016.843669e-08
STGKHDRBS3exon_skip_690625.487684e-016.499251e-08
STGHNRNPA0exon_skip_690625.105571e-016.989611e-07
STGRALYLexon_skip_690626.132931e-015.581453e-10
STGCELF1exon_skip_690624.829166e-013.280849e-06
STGCPEB1exon_skip_690624.919051e-012.013812e-06
STGNOVA1exon_skip_690625.262978e-012.721511e-07
TCHNRNPABexon_skip_15700-4.023327e-012.774336e-07
TCELAVL4exon_skip_690627.759586e-013.165691e-32
TCKHDRBS2exon_skip_690627.422167e-013.285754e-28
TCKHDRBS3exon_skip_690626.970446e-011.012918e-23
TCHNRNPA0exon_skip_690626.444752e-011.911637e-19
TCRALYLexon_skip_690628.173228e-013.172242e-38
TCCELF1exon_skip_690625.521584e-011.144525e-13
TCCPEB1exon_skip_690625.178016e-016.112976e-12
TCNOVA1exon_skip_690626.490721e-018.729606e-20

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RelatedDrugs for LPIN1

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

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RelatedDiseases for LPIN1

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