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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 DHRS7C |
 Gene summary |
| Gene information | Gene symbol | DHRS7C | Gene ID | 201140 |
| Gene name | dehydrogenase/reductase 7C | |
| Synonyms | SDR32C2 | |
| Cytomap | 17p13.1 | |
| Type of gene | protein-coding | |
| Description | dehydrogenase/reductase SDR family member 7Cdehydrogenase/reductase (SDR family) member 7Cshort-chain dehydrogenase/reductase family 32C member 2 | |
| Modification date | 20180523 | |
| UniProtAcc | A6NNS2 | |
| Context | PubMed: DHRS7C [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 DHRS7C 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 DHRS7C |
| 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 DHRS7C |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_286657 | 17 | 9674750:9675013:9676083:9676239:9680509:9680602 | 9676083:9676239 | ENSG00000184544.7 | ENST00000330255.5,ENST00000571134.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DHRS7C |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_286657 | 17 | 9674750:9675013:9676083:9676239:9680509:9680602 | 9676083:9676239 | ENSG00000184544.7 | ENST00000330255.5,ENST00000571134.1 |
| 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 DHRS7C |
| 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 |
| ENST00000330255 | 9676083 | 9676239 | 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 |
| ENST00000330255 | 9676083 | 9676239 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DHRS7C |
| 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 |
| ENST00000330255 | 1023 | 312 | 9676083 | 9676239 | 588 | 743 | 191 | 243 |
| 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 |
| ENST00000330255 | 1023 | 312 | 9676083 | 9676239 | 588 | 743 | 191 | 243 |
| 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 |
| A6NNS2 | 191 | 243 | 192 | 192 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10001 |
| A6NNS2 | 191 | 243 | 19 | 312 | Chain | ID=PRO_0000333755;Note=Dehydrogenase/reductase SDR family member 7C |
| A6NNS2 | 191 | 243 | 227 | 227 | Natural variant | ID=VAR_043150;Note=S->L;Dbxref=dbSNP:rs2280490 |
| 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 |
| A6NNS2 | 191 | 243 | 192 | 192 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10001 |
| A6NNS2 | 191 | 243 | 19 | 312 | Chain | ID=PRO_0000333755;Note=Dehydrogenase/reductase SDR family member 7C |
| A6NNS2 | 191 | 243 | 227 | 227 | Natural variant | ID=VAR_043150;Note=S->L;Dbxref=dbSNP:rs2280490 |
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SNVs in the skipped exons for DHRS7C |
| - 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 |
| SKCM | TCGA-EB-A5UL-06 | exon_skip_286657 | 9676084 | 9676239 | 9676088 | 9676088 | Nonsense_Mutation | C | T | p.W242* |
| LUSC | TCGA-66-2767-01 | exon_skip_286657 | 9676084 | 9676239 | 9676195 | 9676195 | Nonsense_Mutation | G | A | p.R207* |
| - 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 |
| LNCAPCLONEFGC_PROSTATE | 9676084 | 9676239 | 9676089 | 9676090 | Frame_Shift_Ins | - | A | p.W242fs |
| SNU1040_LARGE_INTESTINE | 9676084 | 9676239 | 9676222 | 9676222 | Missense_Mutation | C | T | p.A198T |
| HCC2108_LUNG | 9676084 | 9676239 | 9676225 | 9676225 | Missense_Mutation | G | A | p.H197Y |
| MORCPR_LUNG | 9676084 | 9676239 | 9676225 | 9676225 | Missense_Mutation | G | A | p.H197Y |
| COLO792_SKIN | 9676084 | 9676239 | 9676089 | 9676089 | Nonsense_Mutation | C | T | p.W242* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DHRS7C |
| 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 DHRS7C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DHRS7C |
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RelatedDrugs for DHRS7C |
| 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 DHRS7C |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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