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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for LIPI |
 Gene summary |
| Gene information | Gene symbol | LIPI | Gene ID | 149998 |
| Gene name | lipase I | |
| Synonyms | CT17|LPDL|PLA1C|PRED5|mPA-PLA1 beta | |
| Cytomap | 21q11.2 | |
| Type of gene | protein-coding | |
| Description | lipase member ILPD lipasecancer/testis antigen 17lipase, member Imembrane-associated phosphatidic acid-selective phospholipase A1-beta | |
| Modification date | 20180421 | |
| UniProtAcc | Q6XZB0 | |
| Context | PubMed: LIPI [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| LIPI | GO:0016042 | lipid catabolic process | 12963729 |
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Exon skipping events across known transcript of Ensembl for LIPI from UCSC genome browser |
| Skipped 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. |
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Gene isoform structures and expression levels for LIPI |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for LIPI |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_361276 | 21 | 15537571:15537711:15538682:15538772:15554078:15554180 | 15538682:15538772 | ENSG00000188992.7 | ENST00000344577.2,ENST00000536861.1 |
| exon_skip_361277 | 21 | 15558281:15558390:15561354:15561740:15583120:15583166 | 15561354:15561740 | ENSG00000188992.7 | ENST00000536861.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LIPI |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_361276 | 21 | 15537571:15537711:15538682:15538772:15554078:15554180 | 15538682:15538772 | ENSG00000188992.7 | ENST00000344577.2,ENST00000536861.1 |
| exon_skip_361277 | 21 | 15558281:15558390:15561354:15561740:15583120:15583166 | 15561354:15561740 | ENSG00000188992.7 | ENST00000536861.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for LIPI |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for LIPI |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| Loci of skipped exons in GTEx 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 |
| 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 feature | Description of feature |
| 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 feature | Description of feature |
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SNVs in the skipped exons for LIPI |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_361277 | 15561355 | 15561740 | 15561488 | 15561488 | Frame_Shift_Del | A | - | p.L122fs |
| LGG | TCGA-DU-6392-01 | exon_skip_361277 | 15561355 | 15561740 | 15561361 | 15561362 | Frame_Shift_Ins | - | T | p.T163fs |
| HNSC | TCGA-CV-7437-01 | exon_skip_361276 | 15538683 | 15538772 | 15538694 | 15538694 | Nonsense_Mutation | G | C | p.S262* |
| LUAD | TCGA-44-6774-01 | exon_skip_361277 | 15561355 | 15561740 | 15561488 | 15561488 | Nonsense_Mutation | A | T | p.L121* |
| KIRP | TCGA-MH-A55W-01 | exon_skip_361277 | 15561355 | 15561740 | 15561570 | 15561570 | Nonsense_Mutation | G | A | p.Q94* |
| KIRP | TCGA-MH-A55W-01 | exon_skip_361277 | 15561355 | 15561740 | 15561570 | 15561570 | Nonsense_Mutation | G | A | p.Q94X |
| PRAD | TCGA-XK-AAJP-01 | exon_skip_361277 | 15561355 | 15561740 | 15561724 | 15561724 | Nonsense_Mutation | G | T | p.C42* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| RPMI2650_UPPER_AERODIGESTIVE_TRACT | 15538683 | 15538772 | 15538687 | 15538687 | Missense_Mutation | G | T | p.F243L |
| CP67MEL_SKIN | 15538683 | 15538772 | 15538694 | 15538694 | Missense_Mutation | G | A | p.S241L |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 15538683 | 15538772 | 15538710 | 15538710 | Missense_Mutation | G | A | p.P236S |
| WM793_SKIN | 15561355 | 15561740 | 15561453 | 15561453 | Missense_Mutation | C | A | p.D112Y |
| LC1F_LUNG | 15561355 | 15561740 | 15561477 | 15561477 | Missense_Mutation | C | T | p.E104K |
| LC1SQSF_LUNG | 15561355 | 15561740 | 15561477 | 15561477 | Missense_Mutation | C | T | p.E104K |
| LC1SQ_LUNG | 15561355 | 15561740 | 15561477 | 15561477 | Missense_Mutation | C | T | p.E104K |
| NCIH1930_LUNG | 15561355 | 15561740 | 15561518 | 15561518 | Missense_Mutation | G | T | p.P90Q |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15561355 | 15561740 | 15561525 | 15561525 | Missense_Mutation | A | T | p.S88T |
| RCM1_LARGE_INTESTINE | 15561355 | 15561740 | 15561551 | 15561551 | Missense_Mutation | A | G | p.L79P |
| HT115_LARGE_INTESTINE | 15561355 | 15561740 | 15561567 | 15561567 | Missense_Mutation | T | G | p.K74Q |
| KYSE220_OESOPHAGUS | 15561355 | 15561740 | 15561669 | 15561669 | Missense_Mutation | T | C | p.R40G |
| NCIH2009_LUNG | 15561355 | 15561740 | 15561711 | 15561711 | Missense_Mutation | G | C | p.Q26E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LIPI |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LIPI |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LIPI |
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RelatedDrugs for LIPI |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for LIPI |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| LIPI | C0020480 | Hyperlipoproteinemia Type IV | 1 | CTD_human;UNIPROT |
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