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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for KDSR |
 Gene summary |
| Gene information | Gene symbol | KDSR | Gene ID | 2531 |
| Gene name | 3-ketodihydrosphingosine reductase | |
| Synonyms | DHSR|EKVP4|FVT1|SDR35C1 | |
| Cytomap | 18q21.33 | |
| Type of gene | protein-coding | |
| Description | 3-ketodihydrosphingosine reductase3-dehydrosphinganine reductaseFVT-1KDS reductasefollicular lymphoma variant translocation 1follicular variant translocation protein 1short chain dehydrogenase/reductase family 35C member 1 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| KDSR | GO:0006666 | 3-keto-sphinganine metabolic process | 15364918 |
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Gene structures and expression levels for KDSR |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000119537
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000587292.1 | KDSR-205:lncRNA:KDSR | 8.066821e+00 | 9.579157e-01 | 9.870042e-11 | 6.237323e-09 |
| CB | UP | ENST00000589530.5 | KDSR-207:retained_intron:KDSR | 3.218075e+00 | 8.641281e-01 | 2.836897e-03 | 1.232001e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KDSR |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_12376 | chr18 | 63344410:63344493:63350888:63351079:63355204:63355299 | 63350888:63351079 |
| exon_skip_129065 | chr18 | 63338800:63338883:63344410:63344493:63350888:63351077 | 63344410:63344493 |
| exon_skip_136035 | chr18 | 63362779:63362868:63366405:63366674:63367011:63367228 | 63366405:63366674 |
| exon_skip_166748 | chr18 | 63331651:63331901:63338800:63338883:63344410:63344493 | 63338800:63338883 |
| exon_skip_169297 | chr18 | 63362843:63362868:63365962:63366308:63367011:63367206 | 63365962:63366308 |
| exon_skip_177908 | chr18 | 63362843:63362868:63365962:63366308:63367011:63367128 | 63365962:63366308 |
| exon_skip_178100 | chr18 | 63362779:63362868:63366250:63366308:63367011:63367174 | 63366250:63366308 |
| exon_skip_202736 | chr18 | 63331383:63331901:63335257:63335358:63338800:63338883 | 63335257:63335358 |
| exon_skip_210206 | chr18 | 63355219:63355299:63355498:63355563:63359736:63359792 | 63355498:63355563 |
| exon_skip_276347 | chr18 | 63331651:63331901:63335257:63335358:63338800:63338883 | 63335257:63335358 |
| exon_skip_33354 | chr18 | 63335257:63335358:63338800:63338883:63344410:63344493 | 63338800:63338883 |
| exon_skip_52443 | chr18 | 63362843:63362868:63366405:63366674:63367011:63367128 | 63366405:63366674 |
| exon_skip_65782 | chr18 | 63362843:63362868:63366250:63366308:63367011:63367128 | 63366250:63366308 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for KDSR |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000645214 | 63335257 | 63335358 | In-frame |
| ENST00000645214 | 63344410 | 63344493 | In-frame |
| ENST00000645214 | 63350888 | 63351079 | In-frame |
| ENST00000645214 | 63355498 | 63355563 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000645214 | 63335257 | 63335358 | In-frame |
| ENST00000645214 | 63344410 | 63344493 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000645214 | 63335257 | 63335358 | In-frame |
| ENST00000645214 | 63338800 | 63338883 | In-frame |
| ENST00000645214 | 63344410 | 63344493 | In-frame |
| ENST00000645214 | 63350888 | 63351079 | In-frame |
| ENST00000645214 | 63355498 | 63355563 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KDSR |
p-ENSG00000119537_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000645214 | 5148 | 332 | 63355498 | 63355563 | 344 | 408 | 85 | 106 |
| ENST00000645214 | 5148 | 332 | 63350888 | 63351079 | 506 | 696 | 139 | 202 |
| ENST00000645214 | 5148 | 332 | 63344410 | 63344493 | 698 | 780 | 203 | 230 |
| ENST00000645214 | 5148 | 332 | 63335257 | 63335358 | 866 | 966 | 259 | 292 |
| Loci of skipped exons in MSBB 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 |
| ENST00000645214 | 5148 | 332 | 63344410 | 63344493 | 698 | 780 | 203 | 230 |
| ENST00000645214 | 5148 | 332 | 63335257 | 63335358 | 866 | 966 | 259 | 292 |
| Loci of skipped exons in Mayo 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 |
| ENST00000645214 | 5148 | 332 | 63355498 | 63355563 | 344 | 408 | 85 | 106 |
| ENST00000645214 | 5148 | 332 | 63350888 | 63351079 | 506 | 696 | 139 | 202 |
| ENST00000645214 | 5148 | 332 | 63344410 | 63344493 | 698 | 780 | 203 | 230 |
| ENST00000645214 | 5148 | 332 | 63338800 | 63338883 | 782 | 864 | 231 | 258 |
| ENST00000645214 | 5148 | 332 | 63335257 | 63335358 | 866 | 966 | 259 | 292 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q06136 | 85 | 106 | 26 | 332 | Chain | ID=PRO_0000031982;Note=3-ketodihydrosphingosine reductase |
| Q06136 | 85 | 106 | 86 | 107 | Natural variant | ID=VAR_079186;Note=In EKVP4%3B loss of 3-dehydrosphinganine reductase activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575652;Dbxref=PMID:28575652 |
| Q06136 | 85 | 106 | 26 | 270 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 139 | 202 | 186 | 186 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10001 |
| Q06136 | 139 | 202 | 190 | 190 | Active site | Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q06136 | 139 | 202 | 139 | 202 | Alternative sequence | ID=VSP_056641;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q06136 | 139 | 202 | 173 | 173 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q06136 | 139 | 202 | 26 | 332 | Chain | ID=PRO_0000031982;Note=3-ketodihydrosphingosine reductase |
| Q06136 | 139 | 202 | 186 | 186 | Natural variant | ID=VAR_079187;Note=In EKVP4. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575652;Dbxref=dbSNP:rs1114167452,PMID:28575652 |
| Q06136 | 139 | 202 | 26 | 270 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 203 | 230 | 26 | 332 | Chain | ID=PRO_0000031982;Note=3-ketodihydrosphingosine reductase |
| Q06136 | 203 | 230 | 26 | 270 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 259 | 292 | 26 | 332 | Chain | ID=PRO_0000031982;Note=3-ketodihydrosphingosine reductase |
| Q06136 | 259 | 292 | 260 | 293 | Natural variant | ID=VAR_079188;Note=In EKVP4%3B loss of 3-dehydrosphinganine reductase activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575652;Dbxref=PMID:28575652 |
| Q06136 | 259 | 292 | 26 | 270 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 259 | 292 | 292 | 293 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 259 | 292 | 271 | 291 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q06136 | 203 | 230 | 26 | 332 | Chain | ID=PRO_0000031982;Note=3-ketodihydrosphingosine reductase |
| Q06136 | 203 | 230 | 26 | 270 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 259 | 292 | 26 | 332 | Chain | ID=PRO_0000031982;Note=3-ketodihydrosphingosine reductase |
| Q06136 | 259 | 292 | 260 | 293 | Natural variant | ID=VAR_079188;Note=In EKVP4%3B loss of 3-dehydrosphinganine reductase activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575652;Dbxref=PMID:28575652 |
| Q06136 | 259 | 292 | 26 | 270 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 259 | 292 | 292 | 293 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 259 | 292 | 271 | 291 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q06136 | 85 | 106 | 26 | 332 | Chain | ID=PRO_0000031982;Note=3-ketodihydrosphingosine reductase |
| Q06136 | 85 | 106 | 86 | 107 | Natural variant | ID=VAR_079186;Note=In EKVP4%3B loss of 3-dehydrosphinganine reductase activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575652;Dbxref=PMID:28575652 |
| Q06136 | 85 | 106 | 26 | 270 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 139 | 202 | 186 | 186 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10001 |
| Q06136 | 139 | 202 | 190 | 190 | Active site | Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q06136 | 139 | 202 | 139 | 202 | Alternative sequence | ID=VSP_056641;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q06136 | 139 | 202 | 173 | 173 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q06136 | 139 | 202 | 26 | 332 | Chain | ID=PRO_0000031982;Note=3-ketodihydrosphingosine reductase |
| Q06136 | 139 | 202 | 186 | 186 | Natural variant | ID=VAR_079187;Note=In EKVP4. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575652;Dbxref=dbSNP:rs1114167452,PMID:28575652 |
| Q06136 | 139 | 202 | 26 | 270 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 203 | 230 | 26 | 332 | Chain | ID=PRO_0000031982;Note=3-ketodihydrosphingosine reductase |
| Q06136 | 203 | 230 | 26 | 270 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 231 | 258 | 26 | 332 | Chain | ID=PRO_0000031982;Note=3-ketodihydrosphingosine reductase |
| Q06136 | 231 | 258 | 26 | 270 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 259 | 292 | 26 | 332 | Chain | ID=PRO_0000031982;Note=3-ketodihydrosphingosine reductase |
| Q06136 | 259 | 292 | 260 | 293 | Natural variant | ID=VAR_079188;Note=In EKVP4%3B loss of 3-dehydrosphinganine reductase activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28575652;Dbxref=PMID:28575652 |
| Q06136 | 259 | 292 | 26 | 270 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 259 | 292 | 292 | 293 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q06136 | 259 | 292 | 271 | 291 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in KDSR |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for KDSR |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for KDSR |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KDSR |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for KDSR |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_129065 | -4.429749e-01 | 5.598917e-09 |
| CB | TRA2A | exon_skip_129065 | -5.461625e-01 | 1.151454e-13 |
| CB | RBM45 | exon_skip_129065 | 5.639227e-01 | 1.209191e-14 |
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RelatedDrugs for KDSR |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for KDSR |
| 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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