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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 PITPNA |
 Gene summary |
| Gene information | Gene symbol | PITPNA | Gene ID | 5306 |
| Gene name | phosphatidylinositol transfer protein alpha | |
| Synonyms | HEL-S-36|PI-TPalpha|PITPN|VIB1A | |
| Cytomap | 17p13.3 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol transfer protein alpha isoformPI-TP-alphaepididymis secretory protein Li 36ptdIns transfer protein alphaptdInsTP alpha | |
| Modification date | 20180523 | |
| UniProtAcc | Q00169 | |
| Context | PubMed: PITPNA [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 |
| PITPNA | GO:0015914 | phospholipid transport | 16274224|22822086 |
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Exon skipping events across known transcript of Ensembl for PITPNA 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 PITPNA |
| 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 PITPNA |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_285298 | 17 | 1423506:1423832:1424872:1424939:1437392:1437515 | 1424872:1424939 | ENSG00000174238.10 | ENST00000539476.1,ENST00000575288.1,ENST00000313486.7 |
| exon_skip_285299 | 17 | 1438800:1438812:1439078:1439135:1442162:1442246 | 1439078:1439135 | ENSG00000174238.10 | ENST00000574991.1 |
| exon_skip_285300 | 17 | 1442162:1442246:1444859:1444934:1451589:1451681 | 1444859:1444934 | ENSG00000174238.10 | ENST00000576761.1 |
| exon_skip_285302 | 17 | 1442162:1442246:1451589:1451681:1456297:1456366 | 1451589:1451681 | ENSG00000174238.10 | ENST00000575288.1 |
| exon_skip_285303 | 17 | 1444859:1444934:1444935:1444943:1451589:1451681 | 1444935:1444943 | ENSG00000174238.10 | ENST00000539476.1 |
| exon_skip_285304 | 17 | 1444880:1444934:1446313:1446321:1451589:1451681 | 1446313:1446321 | ENSG00000174238.10 | ENST00000575895.1,ENST00000576010.2,ENST00000574991.1,ENST00000313486.7,ENST00000573231.1,ENST00000576722.1 |
| exon_skip_285305 | 17 | 1444880:1444934:1451589:1451681:1456297:1456366 | 1451589:1451681 | ENSG00000174238.10 | ENST00000576761.1 |
| exon_skip_285306 | 17 | 1451589:1451681:1456297:1456443:1461822:1461853 | 1456297:1456443 | ENSG00000174238.10 | ENST00000575895.1,ENST00000576761.1,ENST00000539476.1,ENST00000576010.2,ENST00000575288.1,ENST00000573056.1,ENST00000313486.7,ENST00000573231.1 |
| exon_skip_285308 | 17 | 1456297:1456443:1461822:1461853:1465834:1465924 | 1461822:1461853 | ENSG00000174238.10 | ENST00000539476.1,ENST00000575288.1 |
| exon_skip_285309 | 17 | 1461822:1461853:1464492:1464575:1465834:1465924 | 1464492:1464575 | ENSG00000174238.10 | ENST00000573231.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PITPNA |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_285298 | 17 | 1423506:1423832:1424872:1424939:1437392:1437515 | 1424872:1424939 | ENSG00000174238.10 | ENST00000313486.7,ENST00000539476.1,ENST00000575288.1 |
| exon_skip_285299 | 17 | 1438800:1438812:1439078:1439135:1442162:1442246 | 1439078:1439135 | ENSG00000174238.10 | ENST00000574991.1 |
| exon_skip_285300 | 17 | 1442162:1442246:1444859:1444934:1451589:1451681 | 1444859:1444934 | ENSG00000174238.10 | ENST00000576761.1 |
| exon_skip_285302 | 17 | 1442162:1442246:1451589:1451681:1456297:1456366 | 1451589:1451681 | ENSG00000174238.10 | ENST00000575288.1 |
| exon_skip_285303 | 17 | 1444859:1444934:1444935:1444943:1451589:1451681 | 1444935:1444943 | ENSG00000174238.10 | ENST00000539476.1 |
| exon_skip_285304 | 17 | 1444880:1444934:1446313:1446321:1451589:1451681 | 1446313:1446321 | ENSG00000174238.10 | ENST00000313486.7,ENST00000574991.1,ENST00000576722.1,ENST00000575895.1,ENST00000576010.2,ENST00000573231.1 |
| exon_skip_285305 | 17 | 1444880:1444934:1451589:1451681:1456297:1456366 | 1451589:1451681 | ENSG00000174238.10 | ENST00000576761.1 |
| exon_skip_285306 | 17 | 1451589:1451681:1456297:1456443:1461822:1461853 | 1456297:1456443 | ENSG00000174238.10 | ENST00000313486.7,ENST00000539476.1,ENST00000575288.1,ENST00000575895.1,ENST00000576761.1,ENST00000576010.2,ENST00000573231.1,ENST00000573056.1 |
| exon_skip_285308 | 17 | 1456297:1456443:1461822:1461853:1465834:1465924 | 1461822:1461853 | ENSG00000174238.10 | ENST00000539476.1,ENST00000575288.1 |
| exon_skip_285309 | 17 | 1461822:1461853:1464492:1464575:1465834:1465924 | 1464492:1464575 | ENSG00000174238.10 | ENST00000573231.1 |
| 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 PITPNA |
| 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 |
| ENST00000313486 | 1424872 | 1424939 | 5CDS-5UTR |
| ENST00000313486 | 1446313 | 1446321 | Frame-shift |
| ENST00000313486 | 1456297 | 1456443 | Frame-shift |
| 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 |
| ENST00000313486 | 1424872 | 1424939 | 5CDS-5UTR |
| ENST00000313486 | 1446313 | 1446321 | Frame-shift |
| ENST00000313486 | 1456297 | 1456443 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PITPNA |
| 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 PITPNA |
| - 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-A3A1-01 | exon_skip_285300 | 1444860 | 1444934 | 1444911 | 1444911 | Frame_Shift_Del | A | - | p.F107fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_285300 | 1444860 | 1444934 | 1444911 | 1444911 | Frame_Shift_Del | A | - | p.L108X |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_285300 | 1444860 | 1444934 | 1444911 | 1444911 | Frame_Shift_Del | A | - | p.F107fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_285306 | 1456298 | 1456443 | 1456400 | 1456400 | Frame_Shift_Del | T | - | p.N32fs |
| SKCM | TCGA-EB-A44O-01 | exon_skip_285302 exon_skip_285305 | 1451590 | 1451681 | 1451683 | 1451683 | Splice_Site | T | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EB-A44O-01 |
| Cancer type: SKCM | |
| ESID: exon_skip_285305 | |
| Skipped exon start: 1451590 | |
| Skipped exon end: 1451681 | |
| Mutation start: 1451683 | |
| Mutation end: 1451683 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_285305_SKCM_TCGA-EB-A44O-01.png | |
exon_skip_335977_SKCM_TCGA-EB-A44O-01.png | |
exon_skip_335979_SKCM_TCGA-EB-A44O-01.png | |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 1456298 | 1456443 | 1456337 | 1456338 | In_Frame_Ins | - | CGC | p.52_53insG |
| SN12C_KIDNEY | 1444860 | 1444934 | 1444911 | 1444911 | Missense_Mutation | A | C | p.F107L |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1451590 | 1451681 | 1451602 | 1451602 | Missense_Mutation | A | G | p.Y93H |
| EN_ENDOMETRIUM | 1451590 | 1451681 | 1451608 | 1451608 | Missense_Mutation | A | G | p.Y91H |
| RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1456298 | 1456443 | 1456411 | 1456411 | Missense_Mutation | C | G | p.E28D |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 1461823 | 1461853 | 1461848 | 1461848 | Missense_Mutation | A | G | p.V9A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PITPNA |
| 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 PITPNA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PITPNA |
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RelatedDrugs for PITPNA |
| 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 PITPNA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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