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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for SETDB1 |
Gene summary |
Gene information | Gene symbol | SETDB1 | Gene ID | 9869 |
Gene name | SET domain bifurcated histone lysine methyltransferase 1 | |
Synonyms | ESET|H3-K9-HMTase4|KG1T|KMT1E|TDRD21 | |
Cytomap | 1q21.3 | |
Type of gene | protein-coding | |
Description | histone-lysine N-methyltransferase SETDB1ERG-associated protein with a SET domain, ESETSET domain bifurcated 1histone H3-K9 methyltransferase 4histone-lysine N-methyltransferase, H3lysine-9 specific 4lysine N-methyltransferase 1Etudor domain contain | |
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 |
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Gene structures and expression levels for SETDB1 |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000525956.5 | SETDB1-214:protein_coding:SETDB1 | 2.026227e+00 | 1.573294e+00 | 3.784956e-05 | 3.248445e-04 |
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 SETDB1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_122582 | chr1 | 150963530:150963741:150963995:150964083:150964247:150964735 | 150963995:150964083 |
exon_skip_15701 | chr1 | 150944918:150945108:150946886:150947012:150949122:150949268 | 150946886:150947012 |
exon_skip_165266 | chr1 | 150961132:150961191:150962130:150962158:150962587:150962719 | 150962130:150962158 |
exon_skip_172195 | chr1 | 150927842:150927974:150929967:150930118:150941329:150941351 | 150929967:150930118 |
exon_skip_175807 | chr1 | 150942563:150942688:150942852:150943053:150943920:150943973 | 150942852:150943053 |
exon_skip_187056 | chr1 | 150960563:150961191:150962130:150962158:150962587:150962719 | 150962130:150962158 |
exon_skip_20240 | chr1 | 150929998:150930118:150939940:150939974:150941329:150941351 | 150939940:150939974 |
exon_skip_30243 | chr1 | 150929967:150930118:150939940:150939974:150941329:150941377 | 150939940:150939974 |
exon_skip_68049 | chr1 | 150951365:150951481:150959178:150959347:150960563:150960890 | 150959178:150959347 |
exon_skip_84985 | chr1 | 150941329:150941428:150942563:150942688:150943920:150943993 | 150942563:150942688 |
exon_skip_93855 | chr1 | 150942563:150942688:150942852:150943053:150943920:150943993 | 150942852:150943053 |
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 SETDB1 |
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 |
ENST00000271640 | 150939940 | 150939974 | Frame-shift |
ENST00000271640 | 150942852 | 150943053 | Frame-shift |
ENST00000271640 | 150959178 | 150959347 | Frame-shift |
ENST00000271640 | 150962130 | 150962158 | Frame-shift |
ENST00000271640 | 150963995 | 150964083 | Frame-shift |
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 |
ENST00000271640 | 150942852 | 150943053 | Frame-shift |
ENST00000271640 | 150962130 | 150962158 | Frame-shift |
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 |
ENST00000271640 | 150939940 | 150939974 | Frame-shift |
ENST00000271640 | 150942852 | 150943053 | Frame-shift |
ENST00000271640 | 150946886 | 150947012 | Frame-shift |
ENST00000271640 | 150959178 | 150959347 | Frame-shift |
ENST00000271640 | 150962130 | 150962158 | Frame-shift |
ENST00000271640 | 150963995 | 150964083 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SETDB1 |
p-ENSG00000143379_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 |
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 |
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 |
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 |
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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SETDB1 |
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 SETDB1 |
- 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 SETDB1 |
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 SETDB1 |
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 SETDB1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SETDB1 |
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 SETDB1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |