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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 DHRS12 |
 Gene summary |
| Gene information | Gene symbol | DHRS12 | Gene ID | 79758 |
| Gene name | dehydrogenase/reductase 12 | |
| Synonyms | SDR40C1 | |
| Cytomap | 13q14.3 | |
| Type of gene | protein-coding | |
| Description | dehydrogenase/reductase SDR family member 12dehydrogenase/reductase (SDR family) member 12short-chain dehydrogenase/reductase family 40C member 1 | |
| Modification date | 20180519 | |
| UniProtAcc | A0PJE2 | |
| Context | PubMed: DHRS12 [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 DHRS12 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 DHRS12 |
| 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 DHRS12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENSG00000102796.6 | ENST00000444610.2 |
| exon_skip_103810 | 13 | 52343291:52343429:52345956:52346047:52348065:52348170 | 52345956:52346047 | ENSG00000102796.6 | ENST00000444610.2,ENST00000218981.1,ENST00000469957.1 |
| exon_skip_103820 | 13 | 52344919:52345631:52345956:52346047:52348065:52348170 | 52345956:52346047 | ENSG00000102796.6 | ENST00000280056.2 |
| exon_skip_103822 | 13 | 52348065:52348170:52350592:52350661:52351195:52351257 | 52350592:52350661 | ENSG00000102796.6 | ENST00000489680.1 |
| exon_skip_103824 | 13 | 52348065:52348170:52351195:52351257:52364146:52364198 | 52351195:52351257 | ENSG00000102796.6 | ENST00000444610.2,ENST00000461948.1,ENST00000490949.1,ENST00000280056.2,ENST00000218981.1 |
| exon_skip_103837 | 13 | 52351195:52351257:52364146:52364228:52365300:52365393 | 52364146:52364228 | ENSG00000102796.6 | ENST00000444610.2,ENST00000490949.1,ENST00000280056.2,ENST00000218981.1 |
| exon_skip_103840 | 13 | 52365300:52365393:52371961:52372044:52373669:52373803 | 52371961:52372044 | ENSG00000102796.6 | ENST00000444610.2,ENST00000497151.1 |
| exon_skip_103841 | 13 | 52365300:52365393:52373669:52373803:52378189:52378234 | 52373669:52373803 | ENSG00000102796.6 | ENST00000490949.1,ENST00000280056.2,ENST00000218981.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DHRS12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENSG00000102796.6 | ENST00000444610.2 |
| exon_skip_103810 | 13 | 52343291:52343429:52345956:52346047:52348065:52348170 | 52345956:52346047 | ENSG00000102796.6 | ENST00000444610.2,ENST00000218981.1,ENST00000469957.1 |
| exon_skip_103820 | 13 | 52344919:52345631:52345956:52346047:52348065:52348170 | 52345956:52346047 | ENSG00000102796.6 | ENST00000280056.2 |
| exon_skip_103822 | 13 | 52348065:52348170:52350592:52350661:52351195:52351257 | 52350592:52350661 | ENSG00000102796.6 | ENST00000489680.1 |
| exon_skip_103824 | 13 | 52348065:52348170:52351195:52351257:52364146:52364198 | 52351195:52351257 | ENSG00000102796.6 | ENST00000444610.2,ENST00000218981.1,ENST00000280056.2,ENST00000490949.1,ENST00000461948.1 |
| exon_skip_103837 | 13 | 52351195:52351257:52364146:52364228:52365300:52365393 | 52364146:52364228 | ENSG00000102796.6 | ENST00000444610.2,ENST00000218981.1,ENST00000280056.2,ENST00000490949.1 |
| exon_skip_103840 | 13 | 52365300:52365393:52371961:52372044:52373669:52373803 | 52371961:52372044 | ENSG00000102796.6 | ENST00000444610.2,ENST00000497151.1 |
| exon_skip_103841 | 13 | 52365300:52365393:52373669:52373803:52378189:52378234 | 52373669:52373803 | ENSG00000102796.6 | ENST00000218981.1,ENST00000280056.2,ENST00000490949.1 |
| 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 DHRS12 |
| 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 |
| ENST00000444610 | 52345956 | 52346047 | Frame-shift |
| ENST00000444610 | 52351195 | 52351257 | Frame-shift |
| ENST00000444610 | 52364146 | 52364228 | Frame-shift |
| ENST00000444610 | 52371961 | 52372044 | Frame-shift |
| ENST00000444610 | 52343291 | 52343429 | 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 |
| ENST00000444610 | 52345956 | 52346047 | Frame-shift |
| ENST00000444610 | 52351195 | 52351257 | Frame-shift |
| ENST00000444610 | 52364146 | 52364228 | Frame-shift |
| ENST00000444610 | 52371961 | 52372044 | Frame-shift |
| ENST00000444610 | 52343291 | 52343429 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DHRS12 |
| 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 |
| ENST00000444610 | 1179 | 317 | 52343291 | 52343429 | 721 | 858 | 235 | 281 |
| 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 |
| ENST00000444610 | 1179 | 317 | 52343291 | 52343429 | 721 | 858 | 235 | 281 |
| 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 |
| A0PJE2 | 235 | 281 | 236 | 317 | Alternative sequence | ID=VSP_029725;Note=In isoform 3. GVRQAMPGFHARFGDRLRSEAQGADTMLWLALSSAAAAQPSGRFFQDRKPVSTHLPLATASSSPAEEEKLIEILEQLAQTFK->DRNEQELRKVVGEAQTASPLPRFLEIMMHEGKCQPQGHSSNDLEACWSSGGGEQNSLPDWPHQLHDLRQLTWALCSSFLLYKQGN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMe |
| A0PJE2 | 235 | 281 | 1 | 317 | Chain | ID=PRO_0000312175;Note=Dehydrogenase/reductase SDR family member 12 |
| 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 |
| A0PJE2 | 235 | 281 | 236 | 317 | Alternative sequence | ID=VSP_029725;Note=In isoform 3. GVRQAMPGFHARFGDRLRSEAQGADTMLWLALSSAAAAQPSGRFFQDRKPVSTHLPLATASSSPAEEEKLIEILEQLAQTFK->DRNEQELRKVVGEAQTASPLPRFLEIMMHEGKCQPQGHSSNDLEACWSSGGGEQNSLPDWPHQLHDLRQLTWALCSSFLLYKQGN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMe |
| A0PJE2 | 235 | 281 | 1 | 317 | Chain | ID=PRO_0000312175;Note=Dehydrogenase/reductase SDR family member 12 |
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SNVs in the skipped exons for DHRS12 |
| - 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_103810 exon_skip_103820 | 52345957 | 52346047 | 52345990 | 52345990 | Frame_Shift_Del | A | - | p.S177fs |
| LUAD | TCGA-95-7043-01 | exon_skip_103837 | 52364147 | 52364228 | 52364174 | 52364174 | Frame_Shift_Del | C | - | p.E141fs |
| LUAD | TCGA-95-7043-01 | exon_skip_103837 | 52364147 | 52364228 | 52364174 | 52364174 | Frame_Shift_Del | C | - | p.E92fs |
| CESC | TCGA-C5-A1M7-01 | exon_skip_103810 exon_skip_103820 | 52345957 | 52346047 | 52346018 | 52346018 | Nonsense_Mutation | C | T | p.W166* |
| CESC | TCGA-C5-A1M7-01 | exon_skip_103810 exon_skip_103820 | 52345957 | 52346047 | 52346018 | 52346018 | Nonsense_Mutation | C | T | p.W215* |
| SKCM | TCGA-EE-A2MI-06 | exon_skip_103841 | 52373670 | 52373803 | 52373720 | 52373720 | Nonsense_Mutation | C | A | p.E26* |
| - 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 |
| SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52373670 | 52373803 | 52373736 | 52373737 | Frame_Shift_Del | CT | - | p.RV41fs |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52373670 | 52373803 | 52373736 | 52373737 | Frame_Shift_Del | CT | - | p.RV41fs |
| NUGC3_STOMACH | 52343292 | 52343429 | 52343325 | 52343325 | Missense_Mutation | C | T | p.A271T |
| HEC151_ENDOMETRIUM | 52345957 | 52346047 | 52345974 | 52345974 | Missense_Mutation | C | T | p.G230D |
| HEC1A_ENDOMETRIUM | 52345957 | 52346047 | 52346002 | 52346002 | Missense_Mutation | C | T | p.A221T |
| HEC1_ENDOMETRIUM | 52345957 | 52346047 | 52346002 | 52346002 | Missense_Mutation | C | T | p.A221T |
| HEC1B_ENDOMETRIUM | 52345957 | 52346047 | 52346002 | 52346002 | Missense_Mutation | C | T | p.A221T |
| NUGC3_STOMACH | 52345957 | 52346047 | 52346043 | 52346043 | Missense_Mutation | T | C | p.Q207R |
| ES2_OVARY | 52373670 | 52373803 | 52373683 | 52373683 | Missense_Mutation | T | G | p.E59D |
| SNU1040_LARGE_INTESTINE | 52373670 | 52373803 | 52373708 | 52373708 | Missense_Mutation | C | T | p.G51D |
| NCIH1573_LUNG | 52371962 | 52372044 | 52371988 | 52371988 | Nonsense_Mutation | C | A | p.E83* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DHRS12 |
| 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 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | GBM | rs10676 | chr13:52343391 | C/T | 2.41e-04 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | GBM | rs10676 | chr13:52343391 | C/T | 2.41e-04 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | CESC | rs10676 | chr13:52343391 | C/T | 3.99e-07 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | CESC | rs10676 | chr13:52343391 | C/T | 4.00e-07 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | COAD | rs10676 | chr13:52343391 | C/T | 9.50e-10 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | COAD | rs10676 | chr13:52343391 | C/T | 9.54e-10 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | COAD | rs10676 | chr13:52343391 | C/T | 2.05e-03 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | BLCA | rs10676 | chr13:52343391 | C/T | 5.03e-05 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | BLCA | rs10676 | chr13:52343391 | C/T | 5.03e-05 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | BLCA | rs10676 | chr13:52343391 | C/T | 4.86e-04 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | LGG | rs10676 | chr13:52343391 | C/T | 4.81e-27 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | LGG | rs10676 | chr13:52343391 | C/T | 4.83e-27 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | LGG | rs10676 | chr13:52343391 | C/T | 5.98e-06 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | KIRC | rs10676 | chr13:52343391 | C/T | 3.79e-32 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | KIRC | rs10676 | chr13:52343391 | C/T | 3.79e-32 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | KIRC | rs10676 | chr13:52343391 | C/T | 7.14e-11 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | KIRC | rs10676 | chr13:52343391 | C/T | 1.41e-03 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | LUAD | rs10676 | chr13:52343391 | C/T | 9.05e-10 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | LUAD | rs10676 | chr13:52343391 | C/T | 9.07e-10 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | PCPG | rs10676 | chr13:52343391 | C/T | 2.71e-18 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | PCPG | rs10676 | chr13:52343391 | C/T | 2.71e-18 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | PCPG | rs10676 | chr13:52343391 | C/T | 8.17e-05 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | PRAD | rs10676 | chr13:52343391 | C/T | 1.82e-17 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | PRAD | rs10676 | chr13:52343391 | C/T | 1.82e-17 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | PRAD | rs10676 | chr13:52343391 | C/T | 5.07e-06 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | TGCT | rs10676 | chr13:52343391 | C/T | 6.52e-06 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | TGCT | rs10676 | chr13:52343391 | C/T | 4.04e-04 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | TGCT | rs10676 | chr13:52343391 | C/T | 4.04e-04 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | STAD | rs10676 | chr13:52343391 | C/T | 8.07e-09 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | STAD | rs10676 | chr13:52343391 | C/T | 8.08e-09 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | THCA | rs10676 | chr13:52343391 | C/T | 4.43e-27 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | THCA | rs10676 | chr13:52343391 | C/T | 4.46e-27 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | THCA | rs10676 | chr13:52343391 | C/T | 5.34e-04 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | UCEC | rs10676 | chr13:52343391 | C/T | 6.12e-06 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | UCEC | rs10676 | chr13:52343391 | C/T | 6.12e-06 |
| exon_skip_103799 | 13 | 52342128:52342432:52343291:52343429:52345956:52346047 | 52343291:52343429 | ENST00000444610.2 | UCEC | rs10676 | chr13:52343391 | C/T | 4.55e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DHRS12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DHRS12 |
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RelatedDrugs for DHRS12 |
| 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 DHRS12 |
| 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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