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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 PXMP4 |
 Gene summary |
| Gene information | Gene symbol | PXMP4 | Gene ID | 11264 |
| Gene name | peroxisomal membrane protein 4 | |
| Synonyms | PMP24 | |
| Cytomap | 20q11.22 | |
| Type of gene | protein-coding | |
| Description | peroxisomal membrane protein 424 kDa peroxisomal intrinsic membrane proteinperoxisomal membrane protein 4, 24kDa | |
| Modification date | 20180519 | |
| UniProtAcc | Q9Y6I8 | |
| Context | PubMed: PXMP4 [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 |
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Exon skipping events across known transcript of Ensembl for PXMP4 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 PXMP4 |
| 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 PXMP4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_355978 | 20 | 32295294:32295775:32298360:32298559:32302479:32302542 | 32298360:32298559 | ENSG00000101417.7 | ENST00000409299.3 |
| exon_skip_355981 | 20 | 32295294:32295775:32298360:32298579:32302479:32302542 | 32298360:32298579 | ENSG00000101417.7 | ENST00000217398.3 |
| exon_skip_355983 | 20 | 32295294:32295775:32302479:32302542:32307900:32308106 | 32302479:32302542 | ENSG00000101417.7 | ENST00000344022.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PXMP4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_355978 | 20 | 32295294:32295775:32298360:32298559:32302479:32302542 | 32298360:32298559 | ENSG00000101417.7 | ENST00000409299.3 |
| exon_skip_355981 | 20 | 32295294:32295775:32298360:32298579:32302479:32302542 | 32298360:32298579 | ENSG00000101417.7 | ENST00000217398.3 |
| 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 PXMP4 |
| 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 |
| ENST00000409299 | 32298360 | 32298559 | 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 |
| ENST00000409299 | 32298360 | 32298559 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PXMP4 |
| 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 PXMP4 |
| - 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. |
PXMP4_LIHC_exon_skip_355981_psi_boxplot.png |
PXMP4_STAD_exon_skip_355981_psi_boxplot.png |
| - 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_355978 | 32298361 | 32298559 | 32298465 | 32298465 | Frame_Shift_Del | G | - | p.L91fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_355981 | 32298361 | 32298579 | 32298465 | 32298465 | Frame_Shift_Del | G | - | p.L91fs |
| CHOL | TCGA-ZH-A8Y8-01 | exon_skip_355978 | 32298361 | 32298559 | 32298495 | 32298502 | Frame_Shift_Del | ACCGTGCC | - | p.79_81del |
| CHOL | TCGA-ZH-A8Y8-01 | exon_skip_355978 | 32298361 | 32298559 | 32298495 | 32298502 | Frame_Shift_Del | ACCGTGCC | - | p.LARF78fs |
| CHOL | TCGA-ZH-A8Y8-01 | exon_skip_355981 | 32298361 | 32298579 | 32298495 | 32298502 | Frame_Shift_Del | ACCGTGCC | - | p.79_81del |
| CHOL | TCGA-ZH-A8Y8-01 | exon_skip_355981 | 32298361 | 32298579 | 32298495 | 32298502 | Frame_Shift_Del | ACCGTGCC | - | p.LARF78fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_355983 | 32302480 | 32302542 | 32302529 | 32302529 | Frame_Shift_Del | T | - | p.I43fs |
| LIHC | TCGA-BC-4073-01 | exon_skip_355978 | 32298361 | 32298559 | 32298387 | 32298387 | Nonsense_Mutation | C | A | p.G117* |
| LIHC | TCGA-BC-4073-01 | exon_skip_355978 | 32298361 | 32298559 | 32298387 | 32298387 | Nonsense_Mutation | C | A | p.G117X |
| LIHC | TCGA-BC-4073-01 | exon_skip_355981 | 32298361 | 32298579 | 32298387 | 32298387 | Nonsense_Mutation | C | A | p.G117* |
| LIHC | TCGA-BC-4073-01 | exon_skip_355981 | 32298361 | 32298579 | 32298387 | 32298387 | Nonsense_Mutation | C | A | p.G117X |
| STAD | TCGA-HU-A4GU-01 | exon_skip_355978 | 32298361 | 32298559 | 32298462 | 32298462 | Nonsense_Mutation | G | A | p.Q92* |
| STAD | TCGA-HU-A4GU-01 | exon_skip_355978 | 32298361 | 32298559 | 32298462 | 32298462 | Nonsense_Mutation | G | A | p.Q92X |
| STAD | TCGA-HU-A4GU-01 | exon_skip_355981 | 32298361 | 32298579 | 32298462 | 32298462 | Nonsense_Mutation | G | A | p.Q92* |
| STAD | TCGA-HU-A4GU-01 | exon_skip_355981 | 32298361 | 32298579 | 32298462 | 32298462 | Nonsense_Mutation | G | A | p.Q92X |
| LUSC | TCGA-18-4083-01 | exon_skip_355983 | 32302480 | 32302542 | 32302479 | 32302479 | Splice_Site | C | A | p.S59_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-ZH-A8Y8-01 |
| Cancer type: CHOL | |
| ESID: exon_skip_355981 | |
| Skipped exon start: 32298361 | |
| Skipped exon end: 32298579 | |
| Mutation start: 32298495 | |
| Mutation end: 32298502 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: ACCGTGCC | |
| Mutation seq: - | |
| AAchange: p.LARF78fs | |
| Sample: TCGA-ZH-A8Y8-01 |
| Cancer type: CHOL | |
| ESID: exon_skip_355978 | |
| Skipped exon start: 32298361 | |
| Skipped exon end: 32298559 | |
| Mutation start: 32298495 | |
| Mutation end: 32298502 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: ACCGTGCC | |
| Mutation seq: - | |
| AAchange: p.LARF78fs | |
| Sample: TCGA-ZH-A8Y8-01 |
| Cancer type: CHOL | |
| ESID: exon_skip_355981 | |
| Skipped exon start: 32298361 | |
| Skipped exon end: 32298579 | |
| Mutation start: 32298495 | |
| Mutation end: 32298502 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: ACCGTGCC | |
| Mutation seq: - | |
| AAchange: p.79_81del | |
| Sample: TCGA-ZH-A8Y8-01 |
| Cancer type: CHOL | |
| ESID: exon_skip_355978 | |
| Skipped exon start: 32298361 | |
| Skipped exon end: 32298559 | |
| Mutation start: 32298495 | |
| Mutation end: 32298502 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: ACCGTGCC | |
| Mutation seq: - | |
| AAchange: p.79_81del | |
exon_skip_355981_CHOL_TCGA-ZH-A8Y8-01.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 |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32298361 | 32298579 | 32298530 | 32298530 | Frame_Shift_Del | T | - | p.Q69fs |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32298361 | 32298559 | 32298530 | 32298530 | Frame_Shift_Del | T | - | p.Q69fs |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32298361 | 32298579 | 32298425 | 32298425 | Missense_Mutation | G | A | p.A104V |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32298361 | 32298559 | 32298425 | 32298425 | Missense_Mutation | G | A | p.A104V |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32302480 | 32302542 | 32302501 | 32302501 | Missense_Mutation | G | T | p.T52N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PXMP4 |
| 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 PXMP4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PXMP4 |
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RelatedDrugs for PXMP4 |
| 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 PXMP4 |
| 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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