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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for REV3L |
Gene summary |
Gene information | Gene symbol | REV3L | Gene ID | 5980 |
Gene name | REV3 like, DNA directed polymerase zeta catalytic subunit | |
Synonyms | POLZ|REV3 | |
Cytomap | 6q21 | |
Type of gene | protein-coding | |
Description | DNA polymerase zeta catalytic subunitREV3-like, polymerase (DNA directed), zeta, catalytic subunitRev-3, yeast, homolog-like (polymerase, DNA, zeta) | |
Modification date | 20180523 | |
UniProtAcc | O60673 | |
Context | PubMed: REV3L [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 REV3L 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 REV3L |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for REV3L |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_461833 | 6 | 111628563:111628773:111629216:111629448:111631055:111631302 | 111629216:111629448 | ENSG00000009413.11 | ENST00000462119.1 |
exon_skip_461834 | 6 | 111631055:111631302:111632271:111632462:111634554:111634692 | 111632271:111632462 | ENSG00000009413.11 | ENST00000368802.3,ENST00000462119.1,ENST00000358835.3,ENST00000434009.1,ENST00000368805.1,ENST00000435970.1,ENST00000422377.1 |
exon_skip_461837 | 6 | 111632271:111632462:111634554:111634692:111636469:111636584 | 111634554:111634692 | ENSG00000009413.11 | ENST00000368802.3,ENST00000358835.3,ENST00000434009.1,ENST00000368805.1,ENST00000435970.1,ENST00000422377.1 |
exon_skip_461838 | 6 | 111634554:111634692:111636469:111636584:111643771:111643881 | 111636469:111636584 | ENSG00000009413.11 | ENST00000368802.3,ENST00000358835.3,ENST00000434009.1,ENST00000368805.1,ENST00000435970.1,ENST00000422377.1 |
exon_skip_461840 | 6 | 111636469:111636584:111643771:111643881:111650734:111650941 | 111643771:111643881 | ENSG00000009413.11 | ENST00000368802.3,ENST00000358835.3,ENST00000434009.1,ENST00000368805.1,ENST00000435970.1,ENST00000422377.1 |
exon_skip_461847 | 6 | 111654325:111654570:111656671:111656813:111665127:111665246 | 111656671:111656813 | ENSG00000009413.11 | ENST00000368802.3,ENST00000358835.3,ENST00000434009.1,ENST00000368805.1,ENST00000435970.1,ENST00000422377.1 |
exon_skip_461849 | 6 | 111672878:111672994:111678216:111678328:111680024:111680104 | 111678216:111678328 | ENSG00000009413.11 | ENST00000368802.3,ENST00000358835.3,ENST00000434009.1,ENST00000368805.1,ENST00000435970.1,ENST00000422377.1 |
exon_skip_461850 | 6 | 111678216:111678328:111680024:111680217:111685055:111685181 | 111680024:111680217 | ENSG00000009413.11 | ENST00000368802.3,ENST00000358835.3,ENST00000434009.1,ENST00000368805.1,ENST00000435970.1,ENST00000422377.1 |
exon_skip_461852 | 6 | 111685055:111685181:111686467:111686547:111688317:111688561 | 111686467:111686547 | ENSG00000009413.11 | ENST00000368802.3,ENST00000413831.1,ENST00000358835.3,ENST00000434009.1,ENST00000368805.1,ENST00000435970.1,ENST00000422377.1 |
exon_skip_461853 | 6 | 111708967:111709116:111709203:111709288:111710308:111710413 | 111709203:111709288 | ENSG00000009413.11 | ENST00000470871.1,ENST00000368802.3,ENST00000358835.3,ENST00000434009.1,ENST00000368805.1,ENST00000435970.1,ENST00000422377.1 |
exon_skip_461855 | 6 | 111737485:111737675:111781502:111781609:111793215:111793343 | 111781502:111781609 | ENSG00000009413.11 | ENST00000434009.1 |
exon_skip_461856 | 6 | 111737485:111737675:111793215:111793343:111803952:111804122 | 111793215:111793343 | ENSG00000009413.11 | ENST00000435970.1,ENST00000422377.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for REV3L |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_461833 | 6 | 111628563:111628773:111629216:111629448:111631055:111631302 | 111629216:111629448 | ENSG00000009413.11 | ENST00000462119.1 |
exon_skip_461834 | 6 | 111631055:111631302:111632271:111632462:111634554:111634692 | 111632271:111632462 | ENSG00000009413.11 | ENST00000462119.1,ENST00000434009.1,ENST00000368802.3,ENST00000368805.1,ENST00000422377.1,ENST00000358835.3,ENST00000435970.1 |
exon_skip_461837 | 6 | 111632271:111632462:111634554:111634692:111636469:111636584 | 111634554:111634692 | ENSG00000009413.11 | ENST00000434009.1,ENST00000368802.3,ENST00000368805.1,ENST00000422377.1,ENST00000358835.3,ENST00000435970.1 |
exon_skip_461838 | 6 | 111634554:111634692:111636469:111636584:111643771:111643881 | 111636469:111636584 | ENSG00000009413.11 | ENST00000434009.1,ENST00000368802.3,ENST00000368805.1,ENST00000422377.1,ENST00000358835.3,ENST00000435970.1 |
exon_skip_461840 | 6 | 111636469:111636584:111643771:111643881:111650734:111650941 | 111643771:111643881 | ENSG00000009413.11 | ENST00000434009.1,ENST00000368802.3,ENST00000368805.1,ENST00000422377.1,ENST00000358835.3,ENST00000435970.1 |
exon_skip_461847 | 6 | 111654325:111654570:111656671:111656813:111665127:111665246 | 111656671:111656813 | ENSG00000009413.11 | ENST00000434009.1,ENST00000368802.3,ENST00000368805.1,ENST00000422377.1,ENST00000358835.3,ENST00000435970.1 |
exon_skip_461849 | 6 | 111672878:111672994:111678216:111678328:111680024:111680104 | 111678216:111678328 | ENSG00000009413.11 | ENST00000434009.1,ENST00000368802.3,ENST00000368805.1,ENST00000422377.1,ENST00000358835.3,ENST00000435970.1 |
exon_skip_461850 | 6 | 111678216:111678328:111680024:111680217:111685055:111685181 | 111680024:111680217 | ENSG00000009413.11 | ENST00000434009.1,ENST00000368802.3,ENST00000368805.1,ENST00000422377.1,ENST00000358835.3,ENST00000435970.1 |
exon_skip_461852 | 6 | 111685055:111685181:111686467:111686547:111688317:111688561 | 111686467:111686547 | ENSG00000009413.11 | ENST00000434009.1,ENST00000368802.3,ENST00000368805.1,ENST00000422377.1,ENST00000358835.3,ENST00000435970.1,ENST00000413831.1 |
exon_skip_461853 | 6 | 111708967:111709116:111709203:111709288:111710308:111710413 | 111709203:111709288 | ENSG00000009413.11 | ENST00000434009.1,ENST00000368802.3,ENST00000368805.1,ENST00000422377.1,ENST00000358835.3,ENST00000435970.1,ENST00000470871.1 |
exon_skip_461855 | 6 | 111737485:111737675:111781502:111781609:111793215:111793343 | 111781502:111781609 | ENSG00000009413.11 | ENST00000434009.1 |
exon_skip_461856 | 6 | 111737485:111737675:111793215:111793343:111803952:111804122 | 111793215:111793343 | ENSG00000009413.11 | ENST00000422377.1,ENST00000435970.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for REV3L |
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 |
ENST00000358835 | 111632271 | 111632462 | Frame-shift |
ENST00000368802 | 111632271 | 111632462 | Frame-shift |
ENST00000368805 | 111632271 | 111632462 | Frame-shift |
ENST00000358835 | 111636469 | 111636584 | Frame-shift |
ENST00000368802 | 111636469 | 111636584 | Frame-shift |
ENST00000368805 | 111636469 | 111636584 | Frame-shift |
ENST00000358835 | 111643771 | 111643881 | Frame-shift |
ENST00000368802 | 111643771 | 111643881 | Frame-shift |
ENST00000368805 | 111643771 | 111643881 | Frame-shift |
ENST00000358835 | 111656671 | 111656813 | Frame-shift |
ENST00000368802 | 111656671 | 111656813 | Frame-shift |
ENST00000368805 | 111656671 | 111656813 | Frame-shift |
ENST00000358835 | 111678216 | 111678328 | Frame-shift |
ENST00000368802 | 111678216 | 111678328 | Frame-shift |
ENST00000368805 | 111678216 | 111678328 | Frame-shift |
ENST00000358835 | 111680024 | 111680217 | Frame-shift |
ENST00000368802 | 111680024 | 111680217 | Frame-shift |
ENST00000368805 | 111680024 | 111680217 | Frame-shift |
ENST00000358835 | 111686467 | 111686547 | Frame-shift |
ENST00000368802 | 111686467 | 111686547 | Frame-shift |
ENST00000368805 | 111686467 | 111686547 | Frame-shift |
ENST00000358835 | 111709203 | 111709288 | Frame-shift |
ENST00000368802 | 111709203 | 111709288 | Frame-shift |
ENST00000368805 | 111709203 | 111709288 | Frame-shift |
ENST00000358835 | 111634554 | 111634692 | In-frame |
ENST00000368802 | 111634554 | 111634692 | In-frame |
ENST00000368805 | 111634554 | 111634692 | 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 |
ENST00000358835 | 111632271 | 111632462 | Frame-shift |
ENST00000368802 | 111632271 | 111632462 | Frame-shift |
ENST00000368805 | 111632271 | 111632462 | Frame-shift |
ENST00000358835 | 111636469 | 111636584 | Frame-shift |
ENST00000368802 | 111636469 | 111636584 | Frame-shift |
ENST00000368805 | 111636469 | 111636584 | Frame-shift |
ENST00000358835 | 111643771 | 111643881 | Frame-shift |
ENST00000368802 | 111643771 | 111643881 | Frame-shift |
ENST00000368805 | 111643771 | 111643881 | Frame-shift |
ENST00000358835 | 111656671 | 111656813 | Frame-shift |
ENST00000368802 | 111656671 | 111656813 | Frame-shift |
ENST00000368805 | 111656671 | 111656813 | Frame-shift |
ENST00000358835 | 111678216 | 111678328 | Frame-shift |
ENST00000368802 | 111678216 | 111678328 | Frame-shift |
ENST00000368805 | 111678216 | 111678328 | Frame-shift |
ENST00000358835 | 111680024 | 111680217 | Frame-shift |
ENST00000368802 | 111680024 | 111680217 | Frame-shift |
ENST00000368805 | 111680024 | 111680217 | Frame-shift |
ENST00000358835 | 111686467 | 111686547 | Frame-shift |
ENST00000368802 | 111686467 | 111686547 | Frame-shift |
ENST00000368805 | 111686467 | 111686547 | Frame-shift |
ENST00000358835 | 111709203 | 111709288 | Frame-shift |
ENST00000368802 | 111709203 | 111709288 | Frame-shift |
ENST00000368805 | 111709203 | 111709288 | Frame-shift |
ENST00000358835 | 111634554 | 111634692 | In-frame |
ENST00000368802 | 111634554 | 111634692 | In-frame |
ENST00000368805 | 111634554 | 111634692 | In-frame |
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Infer the effects of exon skipping event on protein functional features for REV3L |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000358835 | 10806 | 3130 | 111634554 | 111634692 | 8922 | 9059 | 2822 | 2868 |
ENST00000368802 | 10718 | 3130 | 111634554 | 111634692 | 8790 | 8927 | 2822 | 2868 |
ENST00000368805 | 10478 | 3130 | 111634554 | 111634692 | 8550 | 8687 | 2822 | 2868 |
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 |
ENST00000358835 | 10806 | 3130 | 111634554 | 111634692 | 8922 | 9059 | 2822 | 2868 |
ENST00000368802 | 10718 | 3130 | 111634554 | 111634692 | 8790 | 8927 | 2822 | 2868 |
ENST00000368805 | 10478 | 3130 | 111634554 | 111634692 | 8550 | 8687 | 2822 | 2868 |
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 |
O60673 | 2822 | 2868 | 1 | 3130 | Chain | ID=PRO_0000046468;Note=DNA polymerase zeta catalytic subunit |
O60673 | 2822 | 2868 | 1 | 3130 | Chain | ID=PRO_0000046468;Note=DNA polymerase zeta catalytic subunit |
O60673 | 2822 | 2868 | 1 | 3130 | Chain | ID=PRO_0000046468;Note=DNA polymerase zeta catalytic subunit |
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 |
O60673 | 2822 | 2868 | 1 | 3130 | Chain | ID=PRO_0000046468;Note=DNA polymerase zeta catalytic subunit |
O60673 | 2822 | 2868 | 1 | 3130 | Chain | ID=PRO_0000046468;Note=DNA polymerase zeta catalytic subunit |
O60673 | 2822 | 2868 | 1 | 3130 | Chain | ID=PRO_0000046468;Note=DNA polymerase zeta catalytic subunit |
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SNVs in the skipped exons for REV3L |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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_461840 | 111643772 | 111643881 | 111643800 | 111643800 | Frame_Shift_Del | C | - | p.A2697fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_461840 | 111643772 | 111643881 | 111643800 | 111643800 | Frame_Shift_Del | C | - | p.A2697fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_461840 | 111643772 | 111643881 | 111643800 | 111643800 | Frame_Shift_Del | C | - | p.A2697fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_461847 | 111656672 | 111656813 | 111656697 | 111656697 | Frame_Shift_Del | A | - | p.L2474fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_461847 | 111656672 | 111656813 | 111656711 | 111656711 | Frame_Shift_Del | A | - | p.F2469fs |
STAD | TCGA-HU-8602-01 | exon_skip_461847 | 111656672 | 111656813 | 111656711 | 111656711 | Frame_Shift_Del | A | - | p.G2548fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_461847 | 111656672 | 111656813 | 111656734 | 111656734 | Frame_Shift_Del | T | - | p.T2462fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_461850 | 111680025 | 111680217 | 111680079 | 111680079 | Frame_Shift_Del | T | - | p.T2262fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_461850 | 111680025 | 111680217 | 111680079 | 111680079 | Frame_Shift_Del | T | - | p.T2262fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_461850 | 111680025 | 111680217 | 111680156 | 111680156 | Frame_Shift_Del | G | - | p.P2236fs |
STAD | TCGA-BR-A4QL-01 | exon_skip_461853 | 111709204 | 111709288 | 111709248 | 111709248 | Frame_Shift_Del | A | - | p.F301fs |
STAD | TCGA-BR-A4QL-01 | exon_skip_461853 | 111709204 | 111709288 | 111709248 | 111709248 | Frame_Shift_Del | A | - | p.Q302fs |
COAD | TCGA-G4-6588-01 | exon_skip_461853 | 111709204 | 111709288 | 111709251 | 111709251 | Frame_Shift_Del | T | - | p.F301fs |
UCEC | TCGA-BG-A0M0-01 | exon_skip_461853 | 111709204 | 111709288 | 111709251 | 111709251 | Frame_Shift_Del | T | - | p.K300fs |
LIHC | TCGA-BC-A112-01 | exon_skip_461837 | 111634555 | 111634692 | 111634599 | 111634600 | Frame_Shift_Ins | - | T | p.N2776fs |
UCEC | TCGA-BG-A0M0-01 | exon_skip_461840 | 111643772 | 111643881 | 111643799 | 111643800 | Frame_Shift_Ins | - | C | p.A2775fs |
STAD | TCGA-VQ-A8P2-01 | exon_skip_461853 | 111709204 | 111709288 | 111709250 | 111709251 | Frame_Shift_Ins | - | T | p.F301fs |
STAD | TCGA-VQ-A8P2-01 | exon_skip_461853 | 111709204 | 111709288 | 111709250 | 111709251 | Frame_Shift_Ins | - | T | p.NS222fs |
UCEC | TCGA-BS-A0TC-01 | exon_skip_461850 | 111680025 | 111680217 | 111680076 | 111680076 | Nonsense_Mutation | C | A | p.E2341* |
UCS | TCGA-ND-A4WC-01 | exon_skip_461850 | 111680025 | 111680217 | 111680169 | 111680169 | Nonsense_Mutation | G | A | p.R2232* |
UCS | TCGA-ND-A4WC-01 | exon_skip_461850 | 111680025 | 111680217 | 111680169 | 111680169 | Nonsense_Mutation | G | A | p.R2310X |
DLBC | TCGA-GS-A9TZ-01 | exon_skip_461847 | 111656672 | 111656813 | 111656671 | 111656671 | Splice_Site | C | T | . |
STAD | TCGA-VQ-A8P2-01 | exon_skip_461849 | 111678217 | 111678328 | 111678330 | 111678331 | Splice_Site | - | A | . |
- 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 |
BT549_BREAST | 111709204 | 111709288 | 111709250 | 111709251 | Frame_Shift_Ins | - | T | p.F301fs |
CAOV4_OVARY | 111709204 | 111709288 | 111709250 | 111709251 | Frame_Shift_Ins | - | T | p.F301fs |
EFO21_OVARY | 111709204 | 111709288 | 111709250 | 111709251 | Frame_Shift_Ins | - | T | p.F301fs |
HS839T_FIBROBLAST | 111709204 | 111709288 | 111709250 | 111709251 | Frame_Shift_Ins | - | T | p.F301fs |
NCIH446_LUNG | 111709204 | 111709288 | 111709250 | 111709251 | Frame_Shift_Ins | - | T | p.F301fs |
NUGC2_STOMACH | 111709204 | 111709288 | 111709250 | 111709251 | Frame_Shift_Ins | - | T | p.F301fs |
OCUM1_STOMACH | 111709204 | 111709288 | 111709250 | 111709251 | Frame_Shift_Ins | - | T | p.F301fs |
SQ1_LUNG | 111709204 | 111709288 | 111709250 | 111709251 | Frame_Shift_Ins | - | T | p.F301fs |
SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111709204 | 111709288 | 111709250 | 111709251 | Frame_Shift_Ins | - | T | p.F301fs |
TT2609C02_THYROID | 111632272 | 111632462 | 111632452 | 111632452 | Missense_Mutation | C | A | p.R2872L |
OVMIU_OVARY | 111634555 | 111634692 | 111634650 | 111634650 | Missense_Mutation | C | A | p.G2837C |
OVMIU_OVARY | 111634555 | 111634692 | 111634673 | 111634673 | Missense_Mutation | A | G | p.L2829S |
NUGC3_STOMACH | 111656672 | 111656813 | 111656779 | 111656779 | Missense_Mutation | G | T | p.R2525S |
DU145_PROSTATE | 111656672 | 111656813 | 111656785 | 111656785 | Missense_Mutation | G | A | p.R2523C |
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111678217 | 111678328 | 111678313 | 111678313 | Missense_Mutation | G | A | p.T2363I |
GI1_CENTRAL_NERVOUS_SYSTEM | 111680025 | 111680217 | 111680073 | 111680073 | Missense_Mutation | G | T | p.L2342I |
HELA_CERVIX | 111632272 | 111632462 | 111632396 | 111632396 | Nonsense_Mutation | G | A | p.Q2891* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for REV3L |
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 REV3L |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for REV3L |
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RelatedDrugs for REV3L |
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 REV3L |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |