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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 PXDNL |
 Gene summary |
| Gene information | Gene symbol | PXDNL | Gene ID | 137902 |
| Gene name | peroxidasin like | |
| Synonyms | PMR1|PRM1|VPO2 | |
| Cytomap | 8q11.22-q11.23 | |
| Type of gene | protein-coding | |
| Description | peroxidasin-like proteincardiac peroxidasecardiovascular peroxidase 2peroxidasin homolog-likepolysomal ribonuclease 1 homologvascular peroxidase 2 | |
| Modification date | 20180523 | |
| UniProtAcc | A1KZ92 | |
| Context | PubMed: PXDNL [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 PXDNL 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 PXDNL |
| 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 PXDNL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489616 | 8 | 52252183:52252313:52258392:52258507:52284432:52284641 | 52258392:52258507 | ENSG00000147485.8 | ENST00000356297.4,ENST00000522933.1 |
| exon_skip_489621 | 8 | 52284432:52284641:52287156:52287291:52320626:52321539 | 52287156:52287291 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| exon_skip_489623 | 8 | 52323809:52323967:52325709:52325818:52336134:52336291 | 52325709:52325818 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| exon_skip_489624 | 8 | 52339205:52339318:52359563:52359722:52361561:52361678 | 52359563:52359722 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| exon_skip_489627 | 8 | 52384746:52384864:52387531:52387701:52396202:52396274 | 52387531:52387701 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| exon_skip_489628 | 8 | 52387531:52387701:52396202:52396274:52412258:52412330 | 52396202:52396274 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| exon_skip_489630 | 8 | 52412258:52412330:52469399:52469471:52505186:52505258 | 52469399:52469471 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| exon_skip_489631 | 8 | 52469399:52469471:52505186:52505258:52567248:52567320 | 52505186:52505258 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PXDNL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489616 | 8 | 52252183:52252313:52258392:52258507:52284432:52284641 | 52258392:52258507 | ENSG00000147485.8 | ENST00000522933.1,ENST00000356297.4 |
| exon_skip_489621 | 8 | 52284432:52284641:52287156:52287291:52320626:52321539 | 52287156:52287291 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| exon_skip_489623 | 8 | 52323809:52323967:52325709:52325818:52336134:52336291 | 52325709:52325818 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| exon_skip_489624 | 8 | 52339205:52339318:52359563:52359722:52361561:52361678 | 52359563:52359722 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| exon_skip_489627 | 8 | 52384746:52384864:52387531:52387701:52396202:52396274 | 52387531:52387701 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| exon_skip_489628 | 8 | 52387531:52387701:52396202:52396274:52412258:52412330 | 52396202:52396274 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| exon_skip_489630 | 8 | 52412258:52412330:52469399:52469471:52505186:52505258 | 52469399:52469471 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| exon_skip_489631 | 8 | 52469399:52469471:52505186:52505258:52567248:52567320 | 52505186:52505258 | ENSG00000147485.8 | ENST00000356297.4,ENST00000543296.1 |
| 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 PXDNL |
| 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 |
| ENST00000356297 | 52258392 | 52258507 | Frame-shift |
| ENST00000356297 | 52325709 | 52325818 | Frame-shift |
| ENST00000356297 | 52387531 | 52387701 | Frame-shift |
| ENST00000356297 | 52287156 | 52287291 | In-frame |
| ENST00000356297 | 52359563 | 52359722 | In-frame |
| ENST00000356297 | 52396202 | 52396274 | In-frame |
| ENST00000356297 | 52469399 | 52469471 | In-frame |
| ENST00000356297 | 52505186 | 52505258 | In-frame |
| 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 |
| ENST00000356297 | 52258392 | 52258507 | Frame-shift |
| ENST00000356297 | 52325709 | 52325818 | Frame-shift |
| ENST00000356297 | 52387531 | 52387701 | Frame-shift |
| ENST00000356297 | 52287156 | 52287291 | In-frame |
| ENST00000356297 | 52359563 | 52359722 | In-frame |
| ENST00000356297 | 52396202 | 52396274 | In-frame |
| ENST00000356297 | 52469399 | 52469471 | In-frame |
| ENST00000356297 | 52505186 | 52505258 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PXDNL |
| 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 |
| ENST00000356297 | 4822 | 1463 | 52505186 | 52505258 | 338 | 409 | 79 | 102 |
| ENST00000356297 | 4822 | 1463 | 52469399 | 52469471 | 410 | 481 | 103 | 126 |
| ENST00000356297 | 4822 | 1463 | 52396202 | 52396274 | 554 | 625 | 151 | 174 |
| ENST00000356297 | 4822 | 1463 | 52359563 | 52359722 | 1468 | 1626 | 455 | 508 |
| ENST00000356297 | 4822 | 1463 | 52287156 | 52287291 | 3659 | 3793 | 1186 | 1230 |
| 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 |
| ENST00000356297 | 4822 | 1463 | 52505186 | 52505258 | 338 | 409 | 79 | 102 |
| ENST00000356297 | 4822 | 1463 | 52469399 | 52469471 | 410 | 481 | 103 | 126 |
| ENST00000356297 | 4822 | 1463 | 52396202 | 52396274 | 554 | 625 | 151 | 174 |
| ENST00000356297 | 4822 | 1463 | 52359563 | 52359722 | 1468 | 1626 | 455 | 508 |
| ENST00000356297 | 4822 | 1463 | 52287156 | 52287291 | 3659 | 3793 | 1186 | 1230 |
| 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 |
| A1KZ92 | 79 | 102 | 1 | 801 | Alternative sequence | ID=VSP_044240;Note=In isoform PMR1. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| A1KZ92 | 79 | 102 | 24 | 1463 | Chain | ID=PRO_0000330731;Note=Peroxidasin-like protein |
| A1KZ92 | 79 | 102 | 75 | 96 | Repeat | Note=LRR 2 |
| A1KZ92 | 79 | 102 | 99 | 120 | Repeat | Note=LRR 3 |
| A1KZ92 | 103 | 126 | 1 | 801 | Alternative sequence | ID=VSP_044240;Note=In isoform PMR1. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| A1KZ92 | 103 | 126 | 24 | 1463 | Chain | ID=PRO_0000330731;Note=Peroxidasin-like protein |
| A1KZ92 | 103 | 126 | 99 | 120 | Repeat | Note=LRR 3 |
| A1KZ92 | 103 | 126 | 123 | 144 | Repeat | Note=LRR 4 |
| A1KZ92 | 151 | 174 | 1 | 801 | Alternative sequence | ID=VSP_044240;Note=In isoform PMR1. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| A1KZ92 | 151 | 174 | 24 | 1463 | Chain | ID=PRO_0000330731;Note=Peroxidasin-like protein |
| A1KZ92 | 151 | 174 | 147 | 168 | Repeat | Note=LRR 5 |
| A1KZ92 | 455 | 508 | 1 | 801 | Alternative sequence | ID=VSP_044240;Note=In isoform PMR1. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| A1KZ92 | 455 | 508 | 24 | 1463 | Chain | ID=PRO_0000330731;Note=Peroxidasin-like protein |
| A1KZ92 | 455 | 508 | 440 | 488 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| A1KZ92 | 455 | 508 | 419 | 504 | Domain | Note=Ig-like C2-type 3 |
| A1KZ92 | 455 | 508 | 507 | 596 | Domain | Note=Ig-like C2-type 4 |
| A1KZ92 | 1186 | 1230 | 24 | 1463 | Chain | ID=PRO_0000330731;Note=Peroxidasin-like protein |
| A1KZ92 | 1186 | 1230 | 1160 | 1217 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| A1KZ92 | 79 | 102 | 1 | 801 | Alternative sequence | ID=VSP_044240;Note=In isoform PMR1. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| A1KZ92 | 79 | 102 | 24 | 1463 | Chain | ID=PRO_0000330731;Note=Peroxidasin-like protein |
| A1KZ92 | 79 | 102 | 75 | 96 | Repeat | Note=LRR 2 |
| A1KZ92 | 79 | 102 | 99 | 120 | Repeat | Note=LRR 3 |
| A1KZ92 | 103 | 126 | 1 | 801 | Alternative sequence | ID=VSP_044240;Note=In isoform PMR1. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| A1KZ92 | 103 | 126 | 24 | 1463 | Chain | ID=PRO_0000330731;Note=Peroxidasin-like protein |
| A1KZ92 | 103 | 126 | 99 | 120 | Repeat | Note=LRR 3 |
| A1KZ92 | 103 | 126 | 123 | 144 | Repeat | Note=LRR 4 |
| A1KZ92 | 151 | 174 | 1 | 801 | Alternative sequence | ID=VSP_044240;Note=In isoform PMR1. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| A1KZ92 | 151 | 174 | 24 | 1463 | Chain | ID=PRO_0000330731;Note=Peroxidasin-like protein |
| A1KZ92 | 151 | 174 | 147 | 168 | Repeat | Note=LRR 5 |
| A1KZ92 | 455 | 508 | 1 | 801 | Alternative sequence | ID=VSP_044240;Note=In isoform PMR1. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| A1KZ92 | 455 | 508 | 24 | 1463 | Chain | ID=PRO_0000330731;Note=Peroxidasin-like protein |
| A1KZ92 | 455 | 508 | 440 | 488 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| A1KZ92 | 455 | 508 | 419 | 504 | Domain | Note=Ig-like C2-type 3 |
| A1KZ92 | 455 | 508 | 507 | 596 | Domain | Note=Ig-like C2-type 4 |
| A1KZ92 | 1186 | 1230 | 24 | 1463 | Chain | ID=PRO_0000330731;Note=Peroxidasin-like protein |
| A1KZ92 | 1186 | 1230 | 1160 | 1217 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for PXDNL |
| - 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-A39Y-01 | exon_skip_489627 | 52387532 | 52387701 | 52387649 | 52387649 | Frame_Shift_Del | C | - | p.E193fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_489628 | 52396203 | 52396274 | 52396207 | 52396207 | Frame_Shift_Del | T | - | p.R174fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_489628 | 52396203 | 52396274 | 52396228 | 52396228 | Frame_Shift_Del | A | - | p.S167fs |
| LUAD | TCGA-55-7994-01 | exon_skip_489624 | 52359564 | 52359722 | 52359646 | 52359647 | Frame_Shift_Ins | - | T | p.R481fs |
| LUAD | TCGA-17-Z022-01 | exon_skip_489616 | 52258393 | 52258507 | 52258450 | 52258450 | Nonsense_Mutation | G | T | p.S1320* |
| THYM | TCGA-YT-A95G-01 | exon_skip_489624 | 52359564 | 52359722 | 52359585 | 52359585 | Nonsense_Mutation | G | A | p.Q502X |
| SKCM | TCGA-EE-A3J7-06 | exon_skip_489624 | 52359564 | 52359722 | 52359642 | 52359642 | Nonsense_Mutation | G | A | p.Q483* |
| SKCM | TCGA-EE-A3J7-06 | exon_skip_489624 | 52359564 | 52359722 | 52359642 | 52359642 | Nonsense_Mutation | G | A | p.Q483X |
| LUAD | TCGA-69-7979-01 | exon_skip_489627 | 52387532 | 52387701 | 52387649 | 52387649 | Nonsense_Mutation | C | A | p.E193* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_489621 | 52287157 | 52287291 | 52287292 | 52287292 | Splice_Site | C | T | . |
| - 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 |
| FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52396203 | 52396274 | 52396248 | 52396255 | Frame_Shift_Del | TTAGATAA | - | p.LSK158fs |
| DU145_PROSTATE | 52258393 | 52258507 | 52258453 | 52258453 | Missense_Mutation | C | A | p.R1319L |
| HT115_LARGE_INTESTINE | 52258393 | 52258507 | 52258453 | 52258453 | Missense_Mutation | C | T | p.R1319H |
| PCI38_UPPER_AERODIGESTIVE_TRACT | 52258393 | 52258507 | 52258462 | 52258462 | Missense_Mutation | T | C | p.Q1316R |
| HCC2998_LARGE_INTESTINE | 52258393 | 52258507 | 52258474 | 52258474 | Missense_Mutation | G | A | p.T1312M |
| NCIH2172_LUNG | 52258393 | 52258507 | 52258492 | 52258492 | Missense_Mutation | C | A | p.G1306V |
| KG1C_CENTRAL_NERVOUS_SYSTEM | 52258393 | 52258507 | 52258500 | 52258500 | Missense_Mutation | C | G | p.R1303S |
| RMGI_OVARY | 52258393 | 52258507 | 52258500 | 52258500 | Missense_Mutation | C | G | p.R1303S |
| SNU886_LIVER | 52287157 | 52287291 | 52287167 | 52287167 | Missense_Mutation | C | G | p.D1228H |
| TE125T_FIBROBLAST | 52287157 | 52287291 | 52287176 | 52287176 | Missense_Mutation | G | A | p.R1225W |
| NCIH196_LUNG | 52287157 | 52287291 | 52287224 | 52287224 | Missense_Mutation | T | A | p.T1209S |
| HOP92_LUNG | 52287157 | 52287291 | 52287251 | 52287251 | Missense_Mutation | G | T | p.L1200I |
| HEC6_ENDOMETRIUM | 52287157 | 52287291 | 52287254 | 52287254 | Missense_Mutation | C | T | p.A1199T |
| NCIH1339_LUNG | 52287157 | 52287291 | 52287275 | 52287275 | Missense_Mutation | C | A | p.G1192C |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52325710 | 52325818 | 52325785 | 52325785 | Missense_Mutation | A | G | p.V610A |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52325710 | 52325818 | 52325786 | 52325786 | Missense_Mutation | C | G | p.V610L |
| NCIH889_LUNG | 52359564 | 52359722 | 52359569 | 52359569 | Missense_Mutation | G | A | p.P507L |
| TGW_AUTONOMIC_GANGLIA | 52359564 | 52359722 | 52359578 | 52359578 | Missense_Mutation | G | T | p.T504N |
| NB10_AUTONOMIC_GANGLIA | 52359564 | 52359722 | 52359579 | 52359579 | Missense_Mutation | T | C | p.T504A |
| NCIH2073_LUNG | 52359564 | 52359722 | 52359614 | 52359614 | Missense_Mutation | C | T | p.S492N |
| BCPAP_THYROID | 52359564 | 52359722 | 52359642 | 52359642 | Missense_Mutation | G | T | p.Q483K |
| WM2664_SKIN | 52359564 | 52359722 | 52359645 | 52359645 | Missense_Mutation | C | T | p.D482N |
| WM115_SKIN | 52359564 | 52359722 | 52359645 | 52359645 | Missense_Mutation | C | T | p.D482N |
| SW1271_LUNG | 52387532 | 52387701 | 52387534 | 52387534 | Missense_Mutation | C | A | p.C231F |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52387532 | 52387701 | 52387545 | 52387545 | Missense_Mutation | C | A | p.E227D |
| WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52387532 | 52387701 | 52387595 | 52387595 | Missense_Mutation | C | T | p.E211K |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52387532 | 52387701 | 52387606 | 52387606 | Missense_Mutation | G | A | p.A207V |
| NCIH1435_LUNG | 52387532 | 52387701 | 52387613 | 52387613 | Missense_Mutation | G | T | p.Q205K |
| MM426_SKIN | 52387532 | 52387701 | 52387667 | 52387667 | Missense_Mutation | C | T | p.D187N |
| JHOC5_OVARY | 52469400 | 52469471 | 52469418 | 52469418 | Missense_Mutation | A | T | p.L121H |
| RH1_SOFT_TISSUE | 52469400 | 52469471 | 52469467 | 52469467 | Missense_Mutation | G | T | p.L105M |
| NCIH1563_LUNG | 52325710 | 52325818 | 52325783 | 52325783 | Nonsense_Mutation | C | A | p.E611* |
| NCIH1793_LUNG | 52387532 | 52387701 | 52387544 | 52387544 | Nonsense_Mutation | C | A | p.E228* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PXDNL |
| 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 PXDNL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PXDNL |
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RelatedDrugs for PXDNL |
| 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 PXDNL |
| 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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