|
Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for LPIN1 |
Gene summary |
Gene information | Gene symbol | LPIN1 | Gene ID | 23175 |
Gene name | lipin 1 | |
Synonyms | PAP1 | |
Cytomap | 2p25.1 | |
Type of gene | protein-coding | |
Description | phosphatidate phosphatase LPIN1 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for LPIN1 |
Skipped 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
STG | UP | ENST00000404113.6 | LPIN1-205:lncRNA:LPIN1 | 3.742179e+01 | 8.392909e-01 | 3.699602e-04 | 2.325190e-02 |
CB | UP | ENST00000441684.5 | LPIN1-208:protein_coding:LPIN1 | 2.700881e+00 | 1.234526e+00 | 4.575864e-04 | 2.672936e-03 |
CB | UP | ENST00000396098.5 | LPIN1-203:protein_coding:LPIN1 | 3.901276e+00 | 1.100899e+00 | 5.955372e-04 | 3.343003e-03 |
CB | DOWN | ENST00000396097.5 | LPIN1-202:protein_coding:LPIN1 | 8.406854e+01 | -9.410501e-01 | 8.618300e-04 | 4.556384e-03 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for LPIN1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_109349 | chr2 | 11788387:11788456:11791914:11792006:11795408:11795487 | 11791914:11792006 |
exon_skip_11167 | chr2 | 11805070:11805156:11815088:11815240:11819484:11819598 | 11815088:11815240 |
exon_skip_15700 | chr2 | 11773620:11773745:11776086:11776193:11779519:11779645 | 11776086:11776193 |
exon_skip_201883 | chr2 | 11815088:11815240:11819484:11819598:11820411:11820514 | 11819484:11819598 |
exon_skip_237465 | chr2 | 11819564:11819598:11820411:11820514:11824632:11824863 | 11820411:11820514 |
exon_skip_42887 | chr2 | 11746638:11746671:11763023:11763286:11765533:11765599 | 11763023:11763286 |
exon_skip_64242 | chr2 | 11787130:11787167:11788387:11788456:11791708:11791785 | 11788387:11788456 |
exon_skip_69062 | chr2 | 11788387:11788456:11791708:11791785:11791914:11792006 | 11791708:11791785 |
exon_skip_71391 | chr2 | 11763023:11763286:11764204:11764289:11765533:11765599 | 11764204:11764289 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
Top |
Open reading frame (ORF) annotation in the exon skipping event for LPIN1 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000256720 | 11791914 | 11792006 | In-frame |
ENST00000256720 | 11815088 | 11815240 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000256720 | 11791914 | 11792006 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000256720 | 11819484 | 11819598 | Frame-shift |
ENST00000256720 | 11820411 | 11820514 | Frame-shift |
ENST00000256720 | 11791914 | 11792006 | In-frame |
ENST00000256720 | 11815088 | 11815240 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for LPIN1 |
p-ENSG00000134324_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000256720 | 5401 | 890 | 11791914 | 11792006 | 1700 | 1791 | 535 | 566 |
ENST00000256720 | 5401 | 890 | 11815088 | 11815240 | 2236 | 2387 | 714 | 764 |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000256720 | 5401 | 890 | 11791914 | 11792006 | 1700 | 1791 | 535 | 566 |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000256720 | 5401 | 890 | 11791914 | 11792006 | 1700 | 1791 | 535 | 566 |
ENST00000256720 | 5401 | 890 | 11815088 | 11815240 | 2236 | 2387 | 714 | 764 |
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 feature | Description of feature |
Q14693 | 535 | 566 | 418 | 890 | Alternative sequence | ID=VSP_055362;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q14693 | 535 | 566 | 535 | 535 | Alternative sequence | ID=VSP_053971;Note=In isoform 4. K->KSSCLSYLHVILDAIRFCFSKIFNAQI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q14693 | 535 | 566 | 1 | 890 | Chain | ID=PRO_0000209879;Note=Phosphatidate phosphatase LPIN1 |
Q14693 | 535 | 566 | 565 | 565 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q14693 | 535 | 566 | 535 | 535 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q14693 | 714 | 764 | 418 | 890 | Alternative sequence | ID=VSP_055362;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q14693 | 714 | 764 | 1 | 890 | Chain | ID=PRO_0000209879;Note=Phosphatidate phosphatase LPIN1 |
Q14693 | 714 | 764 | 624 | 830 | Region | Note=C-LIP |
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 feature | Description of feature |
Q14693 | 535 | 566 | 418 | 890 | Alternative sequence | ID=VSP_055362;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q14693 | 535 | 566 | 535 | 535 | Alternative sequence | ID=VSP_053971;Note=In isoform 4. K->KSSCLSYLHVILDAIRFCFSKIFNAQI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q14693 | 535 | 566 | 1 | 890 | Chain | ID=PRO_0000209879;Note=Phosphatidate phosphatase LPIN1 |
Q14693 | 535 | 566 | 565 | 565 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q14693 | 535 | 566 | 535 | 535 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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 feature | Description of feature |
Q14693 | 535 | 566 | 418 | 890 | Alternative sequence | ID=VSP_055362;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q14693 | 535 | 566 | 535 | 535 | Alternative sequence | ID=VSP_053971;Note=In isoform 4. K->KSSCLSYLHVILDAIRFCFSKIFNAQI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q14693 | 535 | 566 | 1 | 890 | Chain | ID=PRO_0000209879;Note=Phosphatidate phosphatase LPIN1 |
Q14693 | 535 | 566 | 565 | 565 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q14693 | 535 | 566 | 535 | 535 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q14693 | 714 | 764 | 418 | 890 | Alternative sequence | ID=VSP_055362;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q14693 | 714 | 764 | 1 | 890 | Chain | ID=PRO_0000209879;Note=Phosphatidate phosphatase LPIN1 |
Q14693 | 714 | 764 | 624 | 830 | Region | Note=C-LIP |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in LPIN1 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Top |
SNVs in the skipped exons for LPIN1 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
Top |
AD stage-associated exon skippint events for LPIN1 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LPIN1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for LPIN1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | PCBP1 | exon_skip_15700 | -4.012999e-01 | 2.280390e-07 |
CB | HNRNPAB | exon_skip_15700 | -4.485096e-01 | 4.838963e-09 |
CB | RBM23 | exon_skip_15700 | -4.395870e-01 | 1.049330e-08 |
CB | KHSRP | exon_skip_69062 | 4.032507e-01 | 1.794605e-07 |
DLPFC | KHDRBS2 | exon_skip_69062 | 5.751134e-01 | 1.753100e-29 |
DLPFC | CPEB1 | exon_skip_69062 | 4.544467e-01 | 1.160917e-17 |
FL | ELAVL4 | exon_skip_69062 | 5.091799e-01 | 1.352005e-13 |
FL | KHDRBS3 | exon_skip_69062 | 4.356389e-01 | 5.735865e-10 |
FL | RALYL | exon_skip_69062 | 4.550251e-01 | 7.666807e-11 |
HCC | PCBP4 | exon_skip_15700 | 4.850299e-01 | 2.442999e-17 |
HCC | SRSF5 | exon_skip_15700 | 4.893361e-01 | 1.158846e-17 |
HCC | DAZAP1 | exon_skip_69062 | -5.714006e-01 | 6.886473e-25 |
HCC | SFPQ | exon_skip_69062 | -6.070734e-01 | 1.115335e-28 |
HCC | TRNAU1AP | exon_skip_69062 | -5.259941e-01 | 1.102451e-20 |
HCC | RBM47 | exon_skip_69062 | -4.527925e-01 | 4.193573e-15 |
HCC | KHDRBS2 | exon_skip_69062 | 4.164568e-01 | 8.578867e-13 |
HCC | KHDRBS3 | exon_skip_69062 | -4.736669e-01 | 1.462468e-16 |
HCC | PUF60 | exon_skip_69062 | -4.121489e-01 | 1.546960e-12 |
HCC | PABPC1 | exon_skip_69062 | -4.598883e-01 | 1.374852e-15 |
IFG | RBM23 | exon_skip_107079 | -4.372092e-01 | 2.885421e-02 |
IFG | ELAVL4 | exon_skip_69062 | 5.143174e-01 | 5.110467e-03 |
IFG | PABPN1L | exon_skip_69062 | -4.547138e-01 | 1.505461e-02 |
IFG | RBM47 | exon_skip_69062 | -4.059243e-01 | 3.209159e-02 |
IFG | RALYL | exon_skip_69062 | 4.126596e-01 | 2.908431e-02 |
PCC | ELAVL4 | exon_skip_69062 | 4.978581e-01 | 2.305326e-14 |
PCC | CPEB1 | exon_skip_69062 | 5.066055e-01 | 6.797608e-15 |
PG | ELAVL4 | exon_skip_69062 | 6.974079e-01 | 1.075326e-27 |
PG | ELAVL1 | exon_skip_69062 | 4.287564e-01 | 1.725398e-09 |
PG | KHDRBS2 | exon_skip_69062 | 5.458598e-01 | 1.912358e-15 |
PG | KHDRBS3 | exon_skip_69062 | 6.245841e-01 | 5.701026e-21 |
PG | HNRNPA0 | exon_skip_69062 | 5.130025e-01 | 1.540286e-13 |
PG | HNRNPDL | exon_skip_69062 | 4.006600e-01 | 2.285114e-08 |
PG | HNRNPC | exon_skip_69062 | 5.024516e-01 | 5.719817e-13 |
PG | RALYL | exon_skip_69062 | 6.669888e-01 | 1.177294e-24 |
PG | CELF1 | exon_skip_69062 | 5.274900e-01 | 2.357892e-14 |
PG | CPEB1 | exon_skip_69062 | 5.963179e-01 | 8.220615e-19 |
PG | NOVA1 | exon_skip_69062 | 5.169604e-01 | 9.305754e-14 |
STG | ELAVL4 | exon_skip_69062 | 5.828573e-01 | 5.989535e-09 |
STG | ELAVL1 | exon_skip_69062 | 4.299559e-01 | 4.470258e-05 |
STG | KHDRBS2 | exon_skip_69062 | 5.479860e-01 | 6.843669e-08 |
STG | KHDRBS3 | exon_skip_69062 | 5.487684e-01 | 6.499251e-08 |
STG | HNRNPA0 | exon_skip_69062 | 5.105571e-01 | 6.989611e-07 |
STG | RALYL | exon_skip_69062 | 6.132931e-01 | 5.581453e-10 |
STG | CELF1 | exon_skip_69062 | 4.829166e-01 | 3.280849e-06 |
STG | CPEB1 | exon_skip_69062 | 4.919051e-01 | 2.013812e-06 |
STG | NOVA1 | exon_skip_69062 | 5.262978e-01 | 2.721511e-07 |
TC | HNRNPAB | exon_skip_15700 | -4.023327e-01 | 2.774336e-07 |
TC | ELAVL4 | exon_skip_69062 | 7.759586e-01 | 3.165691e-32 |
TC | KHDRBS2 | exon_skip_69062 | 7.422167e-01 | 3.285754e-28 |
TC | KHDRBS3 | exon_skip_69062 | 6.970446e-01 | 1.012918e-23 |
TC | HNRNPA0 | exon_skip_69062 | 6.444752e-01 | 1.911637e-19 |
TC | RALYL | exon_skip_69062 | 8.173228e-01 | 3.172242e-38 |
TC | CELF1 | exon_skip_69062 | 5.521584e-01 | 1.144525e-13 |
TC | CPEB1 | exon_skip_69062 | 5.178016e-01 | 6.112976e-12 |
TC | NOVA1 | exon_skip_69062 | 6.490721e-01 | 8.729606e-20 |
Top |
RelatedDrugs for LPIN1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for LPIN1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |