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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 PRODH |
 Gene summary |
| Gene information | Gene symbol | PRODH | Gene ID | 5625 |
| Gene name | proline dehydrogenase 1 | |
| Synonyms | HSPOX2|PIG6|POX|PRODH1|PRODH2|TP53I6 | |
| Cytomap | 22q11.21 | |
| Type of gene | protein-coding | |
| Description | proline dehydrogenase 1, mitochondrialp53-induced gene 6 proteinproline dehydrogenase (oxidase) 1proline oxidase 2proline oxidase, mitochondrialtumor protein p53 inducible protein 6 | |
| Modification date | 20180523 | |
| UniProtAcc | O43272 | |
| Context | PubMed: PRODH [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 |
| PRODH | GO:0010942 | positive regulation of cell death | 23743200 |
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Exon skipping events across known transcript of Ensembl for PRODH 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 PRODH |
| 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 PRODH |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_367275 | 22 | 18905828:18906004:18906963:18907110:18907218:18907311 | 18906963:18907110 | ENSG00000100033.12 | ENST00000334029.2,ENST00000482858.1,ENST00000357068.6,ENST00000491604.1,ENST00000313755.5,ENST00000420436.1 |
| exon_skip_367276 | 22 | 18905828:18906004:18906963:18907144:18907218:18907311 | 18906963:18907144 | ENSG00000100033.12 | ENST00000429300.1 |
| exon_skip_367280 | 22 | 18907218:18907311:18908854:18908936:18909837:18909917 | 18908854:18908936 | ENSG00000100033.12 | ENST00000334029.2,ENST00000429300.1,ENST00000357068.6,ENST00000420436.1 |
| exon_skip_367293 | 22 | 18908893:18908936:18909837:18909917:18910329:18910440 | 18909837:18909917 | ENSG00000100033.12 | ENST00000334029.2,ENST00000438924.1,ENST00000429300.1,ENST00000357068.6,ENST00000420436.1 |
| exon_skip_367312 | 22 | 18909884:18909917:18910329:18910446:18910627:18910692 | 18910329:18910446 | ENSG00000100033.12 | ENST00000334029.2,ENST00000399694.1,ENST00000450579.1,ENST00000357068.6,ENST00000491604.1,ENST00000420436.1 |
| exon_skip_367314 | 22 | 18909884:18909917:18910329:18910446:18912563:18912713 | 18910329:18910446 | ENSG00000100033.12 | ENST00000438924.1 |
| exon_skip_367320 | 22 | 18909884:18909917:18910329:18910692:18912563:18912713 | 18910329:18910692 | ENSG00000100033.12 | ENST00000482858.1 |
| exon_skip_367328 | 22 | 18910392:18910446:18910627:18910692:18912563:18912713 | 18910627:18910692 | ENSG00000100033.12 | ENST00000334029.2,ENST00000450579.1,ENST00000357068.6,ENST00000491604.1,ENST00000420436.1 |
| exon_skip_367344 | 22 | 18913200:18913235:18918502:18918694:18923682:18923809 | 18918502:18918694 | ENSG00000100033.12 | ENST00000420436.1 |
| exon_skip_367345 | 22 | 18913200:18913235:18918502:18918711:18923527:18923655 | 18918502:18918711 | ENSG00000100033.12 | ENST00000482858.1,ENST00000357068.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PRODH |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_367275 | 22 | 18905828:18906004:18906963:18907110:18907218:18907311 | 18906963:18907110 | ENSG00000100033.12 | ENST00000491604.1,ENST00000420436.1,ENST00000313755.5,ENST00000482858.1,ENST00000334029.2,ENST00000357068.6 |
| exon_skip_367276 | 22 | 18905828:18906004:18906963:18907144:18907218:18907311 | 18906963:18907144 | ENSG00000100033.12 | ENST00000429300.1 |
| exon_skip_367280 | 22 | 18907218:18907311:18908854:18908936:18909837:18909917 | 18908854:18908936 | ENSG00000100033.12 | ENST00000420436.1,ENST00000429300.1,ENST00000334029.2,ENST00000357068.6 |
| exon_skip_367293 | 22 | 18908893:18908936:18909837:18909917:18910329:18910440 | 18909837:18909917 | ENSG00000100033.12 | ENST00000420436.1,ENST00000429300.1,ENST00000334029.2,ENST00000357068.6,ENST00000438924.1 |
| exon_skip_367312 | 22 | 18909884:18909917:18910329:18910446:18910627:18910692 | 18910329:18910446 | ENSG00000100033.12 | ENST00000491604.1,ENST00000420436.1,ENST00000334029.2,ENST00000357068.6,ENST00000399694.1,ENST00000450579.1 |
| exon_skip_367314 | 22 | 18909884:18909917:18910329:18910446:18912563:18912713 | 18910329:18910446 | ENSG00000100033.12 | ENST00000438924.1 |
| exon_skip_367320 | 22 | 18909884:18909917:18910329:18910692:18912563:18912713 | 18910329:18910692 | ENSG00000100033.12 | ENST00000482858.1 |
| exon_skip_367328 | 22 | 18910392:18910446:18910627:18910692:18912563:18912713 | 18910627:18910692 | ENSG00000100033.12 | ENST00000491604.1,ENST00000420436.1,ENST00000334029.2,ENST00000357068.6,ENST00000450579.1 |
| exon_skip_367344 | 22 | 18913200:18913235:18918502:18918694:18923682:18923809 | 18918502:18918694 | ENSG00000100033.12 | ENST00000420436.1 |
| exon_skip_367345 | 22 | 18913200:18913235:18918502:18918711:18923527:18923655 | 18918502:18918711 | ENSG00000100033.12 | ENST00000482858.1,ENST00000357068.6 |
| 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 PRODH |
| 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 |
| ENST00000357068 | 18908854 | 18908936 | Frame-shift |
| ENST00000357068 | 18909837 | 18909917 | Frame-shift |
| ENST00000357068 | 18910627 | 18910692 | Frame-shift |
| ENST00000357068 | 18918502 | 18918711 | Frame-shift |
| ENST00000357068 | 18906963 | 18907110 | In-frame |
| ENST00000357068 | 18910329 | 18910446 | 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 |
| ENST00000357068 | 18908854 | 18908936 | Frame-shift |
| ENST00000357068 | 18909837 | 18909917 | Frame-shift |
| ENST00000357068 | 18910627 | 18910692 | Frame-shift |
| ENST00000357068 | 18918502 | 18918711 | Frame-shift |
| ENST00000357068 | 18906963 | 18907110 | In-frame |
| ENST00000357068 | 18910329 | 18910446 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PRODH |
| 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 |
| ENST00000357068 | 2479 | 600 | 18910329 | 18910446 | 999 | 1115 | 244 | 283 |
| ENST00000357068 | 2479 | 600 | 18906963 | 18907110 | 1371 | 1517 | 368 | 417 |
| 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 |
| ENST00000357068 | 2479 | 600 | 18910329 | 18910446 | 999 | 1115 | 244 | 283 |
| ENST00000357068 | 2479 | 600 | 18906963 | 18907110 | 1371 | 1517 | 368 | 417 |
| 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 PRODH |
| - 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-G3-A3CJ-01 | exon_skip_367320 | 18910330 | 18910692 | 18910631 | 18910631 | Frame_Shift_Del | A | - | p.F243fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_367328 | 18910628 | 18910692 | 18910631 | 18910631 | Frame_Shift_Del | A | - | p.F243fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_367344 | 18918503 | 18918694 | 18918624 | 18918624 | Frame_Shift_Del | C | - | p.E121fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_367345 | 18918503 | 18918711 | 18918624 | 18918624 | Frame_Shift_Del | C | - | p.E121fs |
| BRCA | TCGA-E9-A1RI-01 | exon_skip_367293 | 18909838 | 18909917 | 18909913 | 18909914 | Frame_Shift_Ins | - | T | p.S285fs |
| - 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 |
| HCC2157_MATCHED_NORMAL_TISSUE | 18918503 | 18918711 | 18918649 | 18918649 | Frame_Shift_Del | G | - | p.T112fs |
| HCC2157_MATCHED_NORMAL_TISSUE | 18918503 | 18918694 | 18918649 | 18918649 | Frame_Shift_Del | G | - | p.T112fs |
| HEC59_ENDOMETRIUM | 18906964 | 18907110 | 18907073 | 18907073 | Missense_Mutation | G | A | p.A381V |
| HEC59_ENDOMETRIUM | 18906964 | 18907144 | 18907073 | 18907073 | Missense_Mutation | G | A | p.A381V |
| SNU1040_LARGE_INTESTINE | 18908855 | 18908936 | 18908859 | 18908859 | Missense_Mutation | G | A | p.A336V |
| EW13_BONE | 18909838 | 18909917 | 18909892 | 18909892 | Missense_Mutation | G | T | p.A292E |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18909838 | 18909917 | 18909908 | 18909908 | Missense_Mutation | C | T | p.A287T |
| SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18910330 | 18910692 | 18910347 | 18910347 | Missense_Mutation | C | T | p.E278K |
| SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18910330 | 18910446 | 18910347 | 18910347 | Missense_Mutation | C | T | p.E278K |
| NCIH345_LUNG | 18910330 | 18910692 | 18910380 | 18910380 | Missense_Mutation | G | T | p.Q267K |
| NCIH345_LUNG | 18910330 | 18910446 | 18910380 | 18910380 | Missense_Mutation | G | T | p.Q267K |
| ESS1_ENDOMETRIUM | 18910330 | 18910692 | 18910438 | 18910438 | Missense_Mutation | G | T | p.F247L |
| ESS1_ENDOMETRIUM | 18910330 | 18910446 | 18910438 | 18910438 | Missense_Mutation | G | T | p.F247L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRODH |
| 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 PRODH |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRODH |
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RelatedDrugs for PRODH |
| 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 PRODH |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PRODH | C0268529 | Proline dehydrogenase deficiency | 5 | CTD_human;ORPHANET;UNIPROT |
| PRODH | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| PRODH | C1833247 | SCHIZOPHRENIA 4 (disorder) | 2 | UNIPROT |
| PRODH | C0002514 | Amino Acid Metabolism, Inborn Errors | 1 | CTD_human |
| PRODH | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| PRODH | C0027765 | nervous system disorder | 1 | CTD_human |
| PRODH | C0036341 | Schizophrenia | 1 | CTD_human |
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