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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 SETD1B |
 Gene summary |
| Gene information | Gene symbol | SETD1B | Gene ID | 23067 |
| Gene name | SET domain containing 1B, histone lysine methyltransferase | |
| Synonyms | KMT2G|Set1B | |
| Cytomap | 12q24.31 | |
| Type of gene | protein-coding | |
| Description | histone-lysine N-methyltransferase SETD1BSET domain containing 1BSET domain-containing protein 1BhSET1Blysine N-methyltransferase 2G | |
| Modification date | 20200313 | |
| UniProtAcc | A0A0A0MQV9, Q9UPS6, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| SETD1B | GO:0044648 | histone H3-K4 dimethylation | 25561738 |
| SETD1B | GO:0051568 | histone H3-K4 methylation | 17355966 |
| SETD1B | GO:0080182 | histone H3-K4 trimethylation | 25561738 |
| SETD1B | GO:0097692 | histone H3-K4 monomethylation | 25561738 |
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Gene structures and expression levels for SETD1B |
| 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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ENSG00000139718
| 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 |
| 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 SETD1B |
| 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_191664 | chr12 | 121817799:121817904:121819404:121819895:121822490:121823749 | 121819404:121819895 |
| exon_skip_292260 | chr12 | 121805835:121806105:121808208:121808320:121809603:121810835 | 121808208:121808320 |
| exon_skip_85717 | chr12 | 121825204:121825366:121827519:121827650:121827735:121827854 | 121827519:121827650 |
| 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 SETD1B |
| 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 |
| ENST00000604567 | 121819404 | 121819895 | In-frame |
| ENST00000619791 | 121819404 | 121819895 | 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 |
| 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 |
| ENST00000604567 | 121808208 | 121808320 | Frame-shift |
| ENST00000619791 | 121808208 | 121808320 | Frame-shift |
| ENST00000604567 | 121819404 | 121819895 | In-frame |
| ENST00000619791 | 121819404 | 121819895 | In-frame |
| ENST00000604567 | 121827519 | 121827650 | In-frame |
| ENST00000619791 | 121827519 | 121827650 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SETD1B |
p-ENSG00000139718_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 |
| ENST00000604567 | 5986 | 1966 | 121819404 | 121819895 | 3488 | 3978 | 1140 | 1303 |
| ENST00000619791 | 5918 | 1966 | 121819404 | 121819895 | 3420 | 3910 | 1140 | 1303 |
| 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 |
| ENST00000604567 | 5986 | 1966 | 121819404 | 121819895 | 3488 | 3978 | 1140 | 1303 |
| ENST00000619791 | 5918 | 1966 | 121819404 | 121819895 | 3420 | 3910 | 1140 | 1303 |
| ENST00000604567 | 5986 | 1966 | 121827519 | 121827650 | 5407 | 5537 | 1779 | 1823 |
| ENST00000619791 | 5918 | 1966 | 121827519 | 121827650 | 5339 | 5469 | 1779 | 1823 |
| 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 |
| Q9UPS6 | 1140 | 1303 | 1 | 1966 | Chain | ID=PRO_0000316993;Note=Histone-lysine N-methyltransferase SETD1B |
| Q9UPS6 | 1140 | 1303 | 1 | 1966 | Chain | ID=PRO_0000316993;Note=Histone-lysine N-methyltransferase SETD1B |
| Q9UPS6 | 1140 | 1303 | 1173 | 1204 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UPS6 | 1140 | 1303 | 1173 | 1204 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UPS6 | 1140 | 1303 | 366 | 1671 | Compositional bias | Note=Pro-rich |
| Q9UPS6 | 1140 | 1303 | 366 | 1671 | Compositional bias | Note=Pro-rich |
| Q9UPS6 | 1140 | 1303 | 1040 | 1175 | Compositional bias | Note=Ser-rich |
| Q9UPS6 | 1140 | 1303 | 1040 | 1175 | Compositional bias | Note=Ser-rich |
| Q9UPS6 | 1140 | 1303 | 1068 | 1312 | Compositional bias | Note=Glu-rich |
| Q9UPS6 | 1140 | 1303 | 1068 | 1312 | Compositional bias | Note=Glu-rich |
| Q9UPS6 | 1140 | 1303 | 1265 | 1265 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CFT2 |
| Q9UPS6 | 1140 | 1303 | 1265 | 1265 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CFT2 |
| Q9UPS6 | 1140 | 1303 | 1283 | 1283 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CFT2 |
| Q9UPS6 | 1140 | 1303 | 1283 | 1283 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CFT2 |
| 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 |
| Q9UPS6 | 1140 | 1303 | 1 | 1966 | Chain | ID=PRO_0000316993;Note=Histone-lysine N-methyltransferase SETD1B |
| Q9UPS6 | 1140 | 1303 | 1 | 1966 | Chain | ID=PRO_0000316993;Note=Histone-lysine N-methyltransferase SETD1B |
| Q9UPS6 | 1140 | 1303 | 1173 | 1204 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UPS6 | 1140 | 1303 | 1173 | 1204 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UPS6 | 1140 | 1303 | 366 | 1671 | Compositional bias | Note=Pro-rich |
| Q9UPS6 | 1140 | 1303 | 366 | 1671 | Compositional bias | Note=Pro-rich |
| Q9UPS6 | 1140 | 1303 | 1040 | 1175 | Compositional bias | Note=Ser-rich |
| Q9UPS6 | 1140 | 1303 | 1040 | 1175 | Compositional bias | Note=Ser-rich |
| Q9UPS6 | 1140 | 1303 | 1068 | 1312 | Compositional bias | Note=Glu-rich |
| Q9UPS6 | 1140 | 1303 | 1068 | 1312 | Compositional bias | Note=Glu-rich |
| Q9UPS6 | 1140 | 1303 | 1265 | 1265 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CFT2 |
| Q9UPS6 | 1140 | 1303 | 1265 | 1265 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CFT2 |
| Q9UPS6 | 1140 | 1303 | 1283 | 1283 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CFT2 |
| Q9UPS6 | 1140 | 1303 | 1283 | 1283 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CFT2 |
| Q9UPS6 | 1779 | 1823 | 1 | 1966 | Chain | ID=PRO_0000316993;Note=Histone-lysine N-methyltransferase SETD1B |
| Q9UPS6 | 1779 | 1823 | 1 | 1966 | Chain | ID=PRO_0000316993;Note=Histone-lysine N-methyltransferase SETD1B |
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3'-UTR located exon skipping events that lost miRNA binding sites in SETD1B |
| 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 SETD1B |
| - 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 SETD1B |
| 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 SETD1B |
| 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 SETD1B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SETD1B |
| 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 SETD1B |
| 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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