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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 SETD1B |
 Gene summary |
| Gene information | Gene symbol | SETD1B | Gene ID | 23067 |
| Gene name | SET domain containing 1B | |
| Synonyms | KMT2G|Set1B | |
| Cytomap | 12q24.31 | |
| Type of gene | protein-coding | |
| Description | histone-lysine N-methyltransferase SETD1BSET domain-containing protein 1BhSET1Blysine N-methyltransferase 2G | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UPS6 | |
| Context | PubMed: SETD1B [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 |
| SETD1B | GO:0051568 | histone H3-K4 methylation | 17355966 |
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Exon skipping events across known transcript of Ensembl for SETD1B 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 SETD1B |
| 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 SETD1B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_87920 | 12 | 122243740:122244011:122246113:122246226:122247508:122248741 | 122246113:122246226 | ENSG00000139718.6 | ENST00000267197.5,ENST00000542440.1,ENST00000604567.1 |
| exon_skip_87923 | 12 | 122255704:122255810:122257309:122257801:122260395:122261655 | 122257309:122257801 | ENSG00000139718.6 | ENST00000267197.5,ENST00000542440.1,ENST00000604567.1 |
| exon_skip_87925 | 12 | 122263105:122263272:122265424:122265556:122265640:122265760 | 122265424:122265556 | ENSG00000139718.6 | ENST00000267197.5,ENST00000542440.1,ENST00000604567.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SETD1B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_87920 | 12 | 122243740:122244011:122246113:122246226:122247508:122248741 | 122246113:122246226 | ENSG00000139718.6 | ENST00000604567.1,ENST00000542440.1,ENST00000267197.5 |
| exon_skip_87923 | 12 | 122255704:122255810:122257309:122257801:122260395:122261655 | 122257309:122257801 | ENSG00000139718.6 | ENST00000604567.1,ENST00000542440.1,ENST00000267197.5 |
| exon_skip_87925 | 12 | 122263105:122263272:122265424:122265556:122265640:122265760 | 122265424:122265556 | ENSG00000139718.6 | ENST00000604567.1,ENST00000542440.1,ENST00000267197.5 |
| 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 SETD1B |
| 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 |
| ENST00000604567 | 122246113 | 122246226 | Frame-shift |
| ENST00000604567 | 122257309 | 122257801 | In-frame |
| ENST00000604567 | 122265424 | 122265556 | 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 |
| ENST00000604567 | 122246113 | 122246226 | Frame-shift |
| ENST00000604567 | 122257309 | 122257801 | In-frame |
| ENST00000604567 | 122265424 | 122265556 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SETD1B |
| 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 |
| ENST00000604567 | 5986 | 1966 | 122257309 | 122257801 | 3487 | 3978 | 1139 | 1303 |
| ENST00000604567 | 5986 | 1966 | 122265424 | 122265556 | 5406 | 5537 | 1779 | 1823 |
| 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 |
| ENST00000604567 | 5986 | 1966 | 122257309 | 122257801 | 3487 | 3978 | 1139 | 1303 |
| ENST00000604567 | 5986 | 1966 | 122265424 | 122265556 | 5406 | 5537 | 1779 | 1823 |
| 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 |
| Q9UPS6 | 1139 | 1303 | 1 | 1966 | Chain | ID=PRO_0000316993;Note=Histone-lysine N-methyltransferase SETD1B |
| Q9UPS6 | 1139 | 1303 | 1173 | 1204 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UPS6 | 1139 | 1303 | 366 | 1671 | Compositional bias | Note=Pro-rich |
| Q9UPS6 | 1139 | 1303 | 1040 | 1175 | Compositional bias | Note=Ser-rich |
| Q9UPS6 | 1139 | 1303 | 1068 | 1312 | Compositional bias | Note=Glu-rich |
| Q9UPS6 | 1139 | 1303 | 1265 | 1265 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CFT2 |
| Q9UPS6 | 1139 | 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 |
| 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 |
| Q9UPS6 | 1139 | 1303 | 1 | 1966 | Chain | ID=PRO_0000316993;Note=Histone-lysine N-methyltransferase SETD1B |
| Q9UPS6 | 1139 | 1303 | 1173 | 1204 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UPS6 | 1139 | 1303 | 366 | 1671 | Compositional bias | Note=Pro-rich |
| Q9UPS6 | 1139 | 1303 | 1040 | 1175 | Compositional bias | Note=Ser-rich |
| Q9UPS6 | 1139 | 1303 | 1068 | 1312 | Compositional bias | Note=Glu-rich |
| Q9UPS6 | 1139 | 1303 | 1265 | 1265 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8CFT2 |
| Q9UPS6 | 1139 | 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 |
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SNVs in the skipped exons for SETD1B |
| - 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 |
| COAD | TCGA-AZ-4615-01 | exon_skip_87923 | 122257310 | 122257801 | 122257648 | 122257648 | Frame_Shift_Del | C | - | p.E1209fs |
| CHOL | TCGA-4G-AAZO-01 | exon_skip_87923 | 122257310 | 122257801 | 122257702 | 122257702 | Nonsense_Mutation | G | T | p.E1228X |
| - 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 |
| SKMEL2_SKIN | 122257310 | 122257801 | 122257648 | 122257648 | Frame_Shift_Del | C | - | p.P1254fs |
| NCIH835_LUNG | 122257310 | 122257801 | 122257331 | 122257333 | In_Frame_Del | CCT | - | p.S1148del |
| OCILY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 122257310 | 122257801 | 122257423 | 122257425 | In_Frame_Del | GAG | - | p.E1180del |
| KM12_LARGE_INTESTINE | 122246114 | 122246226 | 122246129 | 122246129 | Missense_Mutation | G | A | p.R187Q |
| ACHN_KIDNEY | 122246114 | 122246226 | 122246177 | 122246177 | Missense_Mutation | C | T | p.P203L |
| LK2_LUNG | 122257310 | 122257801 | 122257473 | 122257473 | Missense_Mutation | G | T | p.E1194D |
| DMS273_LUNG | 122257310 | 122257801 | 122257483 | 122257483 | Missense_Mutation | G | A | p.E1198K |
| KM12_LARGE_INTESTINE | 122257310 | 122257801 | 122257679 | 122257679 | Missense_Mutation | C | T | p.A1263V |
| SNU503_LARGE_INTESTINE | 122257310 | 122257801 | 122257679 | 122257679 | Missense_Mutation | C | G | p.A1263G |
| HT115_LARGE_INTESTINE | 122265425 | 122265556 | 122265432 | 122265432 | Missense_Mutation | G | A | p.S1782N |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 122265425 | 122265556 | 122265461 | 122265461 | Missense_Mutation | C | T | p.R1792W |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 122265425 | 122265556 | 122265495 | 122265495 | Missense_Mutation | G | A | p.R1803H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SETD1B |
| 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 SETD1B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SETD1B |
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RelatedDrugs for SETD1B |
| 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 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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