|
||||||
|
 | |
| |
| |
| |
| 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 BDH1 |
 Gene summary |
| Gene information | Gene symbol | BDH1 | Gene ID | 622 |
| Gene name | 3-hydroxybutyrate dehydrogenase 1 | |
| Synonyms | BDH|SDR9C1 | |
| Cytomap | 3q29 | |
| Type of gene | protein-coding | |
| Description | D-beta-hydroxybutyrate dehydrogenase, mitochondrial(R)-3-hydroxybutyrate dehydrogenase3-hydroxybutyrate dehydrogenase (heart, mitochondrial)3-hydroxybutyrate dehydrogenase, type 1short chain dehydrogenase/reductase family 9C member 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q02338 | |
| Context | PubMed: BDH1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for BDH1 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. |
 |
Top |
Gene isoform structures and expression levels for BDH1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for BDH1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_420887 | 3 | 197241136:197241287:197249510:197249652:197259282:197259385 | 197249510:197249652 | ENSG00000161267.7 | ENST00000432819.1,ENST00000358186.2,ENST00000477015.1,ENST00000392379.1,ENST00000392378.2,ENST00000434143.1,ENST00000441275.1,ENST00000446746.1 |
| exon_skip_420901 | 3 | 197249510:197249652:197259282:197259393:197260359:197260432 | 197259282:197259393 | ENSG00000161267.7 | ENST00000432819.1,ENST00000358186.2,ENST00000477015.1,ENST00000392379.1,ENST00000392378.2,ENST00000434143.1,ENST00000446746.1 |
| exon_skip_420912 | 3 | 197260363:197260432:197273231:197273357:197281432:197281584 | 197273231:197273357 | ENSG00000161267.7 | ENST00000432819.1,ENST00000392379.1 |
| exon_skip_420915 | 3 | 197260363:197260432:197273231:197273357:197300051:197300194 | 197273231:197273357 | ENSG00000161267.7 | ENST00000358186.2,ENST00000431056.1 |
| exon_skip_420916 | 3 | 197260363:197260432:197281432:197281584:197282651:197282827 | 197281432:197281584 | ENSG00000161267.7 | ENST00000441275.1 |
| exon_skip_420921 | 3 | 197273231:197273357:197281432:197281584:197282651:197282827 | 197281432:197281584 | ENSG00000161267.7 | ENST00000432819.1,ENST00000392379.1 |
| exon_skip_420923 | 3 | 197273231:197273357:197282212:197282378:197282651:197282827 | 197282212:197282378 | ENSG00000161267.7 | ENST00000445160.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for BDH1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_420901 | 3 | 197249510:197249652:197259282:197259393:197260359:197260432 | 197259282:197259393 | ENSG00000161267.7 | ENST00000392378.2,ENST00000358186.2,ENST00000392379.1,ENST00000446746.1,ENST00000477015.1,ENST00000434143.1,ENST00000432819.1 |
| exon_skip_420912 | 3 | 197260363:197260432:197273231:197273357:197281432:197281584 | 197273231:197273357 | ENSG00000161267.7 | ENST00000392379.1,ENST00000432819.1 |
| exon_skip_420915 | 3 | 197260363:197260432:197273231:197273357:197300051:197300194 | 197273231:197273357 | ENSG00000161267.7 | ENST00000358186.2,ENST00000431056.1 |
| exon_skip_420916 | 3 | 197260363:197260432:197281432:197281584:197282651:197282827 | 197281432:197281584 | ENSG00000161267.7 | ENST00000441275.1 |
| exon_skip_420921 | 3 | 197273231:197273357:197281432:197281584:197282651:197282827 | 197281432:197281584 | ENSG00000161267.7 | ENST00000392379.1,ENST00000432819.1 |
| exon_skip_420923 | 3 | 197273231:197273357:197282212:197282378:197282651:197282827 | 197282212:197282378 | ENSG00000161267.7 | ENST00000445160.2 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for BDH1 |
| 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 |
| 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 |
Top |
Infer the effects of exon skipping event on protein functional features for BDH1 |
| 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 |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for BDH1 |
| - 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_420887 | 197249511 | 197249652 | 197249612 | 197249612 | Frame_Shift_Del | T | - | p.N103fs |
| PCPG | TCGA-PR-A5PF-01 | exon_skip_420915 exon_skip_420912 | 197273232 | 197273357 | 197273266 | 197273266 | Frame_Shift_Del | T | - | p.T17fs |
| - 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 |
| SKNMC_BONE | 197249511 | 197249652 | 197249513 | 197249513 | Missense_Mutation | T | G | p.K136T |
| MCIXC_AUTONOMIC_GANGLIA | 197249511 | 197249652 | 197249513 | 197249513 | Missense_Mutation | T | G | p.K136T |
| GP2D_LARGE_INTESTINE | 197249511 | 197249652 | 197249563 | 197249563 | Missense_Mutation | C | A | p.E119D |
| GP5D_LARGE_INTESTINE | 197249511 | 197249652 | 197249563 | 197249563 | Missense_Mutation | C | A | p.E119D |
| KYSE150_OESOPHAGUS | 197249511 | 197249652 | 197249570 | 197249570 | Missense_Mutation | C | A | p.S117I |
| MCC13_SKIN | 197259283 | 197259393 | 197259341 | 197259341 | Missense_Mutation | G | A | p.S70L |
| KYSE270_OESOPHAGUS | 197273232 | 197273357 | 197273295 | 197273295 | Missense_Mutation | G | A | p.S7F |
| HEC6_ENDOMETRIUM | 197273232 | 197273357 | 197273301 | 197273301 | Missense_Mutation | C | T | p.R5H |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BDH1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BDH1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BDH1 |
Top |
RelatedDrugs for BDH1 |
| 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 |
Top |
RelatedDiseases for BDH1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BDH1 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
| BDH1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|