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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 BRF2 |
 Gene summary |
| Gene information | Gene symbol | BRF2 | Gene ID | 55290 |
| Gene name | BRF2, RNA polymerase III transcription initiation factor subunit | |
| Synonyms | BRFU|TFIIIB50 | |
| Cytomap | 8p11.23 | |
| Type of gene | protein-coding | |
| Description | transcription factor IIIB 50 kDa subunitB-related factor 2BRF-2BRF2, RNA polymerase III transcription initiation factor 50 kDa subunitBRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-likeRNA polymerase III transcription initi | |
| Modification date | 20180519 | |
| UniProtAcc | Q9HAW0 | |
| Context | PubMed: BRF2 [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 |
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Exon skipping events across known transcript of Ensembl for BRF2 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 BRF2 |
| 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 BRF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489136 | 8 | 37702219:37702731:37703203:37703292:37704371:37704693 | 37703203:37703292 | ENSG00000104221.8 | ENST00000520601.1 |
| exon_skip_489139 | 8 | 37702219:37702731:37704371:37704693:37706113:37706173 | 37704371:37704693 | ENSG00000104221.8 | ENST00000220659.6 |
| exon_skip_489142 | 8 | 37704573:37704693:37704791:37704859:37706113:37706173 | 37704791:37704859 | ENSG00000104221.8 | ENST00000522539.1 |
| exon_skip_489143 | 8 | 37704474:37704693:37704820:37704859:37706113:37706173 | 37704820:37704859 | ENSG00000104221.8 | ENST00000521170.1 |
| exon_skip_489144 | 8 | 37704573:37704693:37706113:37706173:37707147:37707356 | 37706113:37706173 | ENSG00000104221.8 | ENST00000520601.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BRF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489136 | 8 | 37702219:37702731:37703203:37703292:37704371:37704693 | 37703203:37703292 | ENSG00000104221.8 | ENST00000520601.1 |
| exon_skip_489139 | 8 | 37702219:37702731:37704371:37704693:37706113:37706173 | 37704371:37704693 | ENSG00000104221.8 | ENST00000220659.6 |
| exon_skip_489142 | 8 | 37704573:37704693:37704791:37704859:37706113:37706173 | 37704791:37704859 | ENSG00000104221.8 | ENST00000522539.1 |
| exon_skip_489143 | 8 | 37704474:37704693:37704820:37704859:37706113:37706173 | 37704820:37704859 | ENSG00000104221.8 | ENST00000521170.1 |
| exon_skip_489144 | 8 | 37704573:37704693:37706113:37706173:37707147:37707356 | 37706113:37706173 | ENSG00000104221.8 | ENST00000520601.1 |
| 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 BRF2 |
| 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 |
| ENST00000220659 | 37704371 | 37704693 | Frame-shift |
| 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 |
| ENST00000220659 | 37704371 | 37704693 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for BRF2 |
| 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 |
| 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 |
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SNVs in the skipped exons for BRF2 |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_489144 | 37706114 | 37706173 | 37706147 | 37706147 | Frame_Shift_Del | C | - | p.E61fs |
| KIRC | TCGA-B0-5701-01 | exon_skip_489139 | 37704372 | 37704693 | 37704604 | 37704605 | Frame_Shift_Ins | - | AT | p.R102fs |
| ACC | TCGA-OR-A5LM-01 | exon_skip_489139 | 37704372 | 37704693 | 37704589 | 37704589 | Nonsense_Mutation | G | A | p.R107X |
| BLCA | TCGA-CF-A7I0-01 | exon_skip_489144 | 37706114 | 37706173 | 37706159 | 37706159 | Nonsense_Mutation | G | A | p.R57* |
| - 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 |
| SNU1040_LARGE_INTESTINE | 37704372 | 37704693 | 37704540 | 37704540 | Missense_Mutation | A | G | p.L123S |
| DV90_LUNG | 37704372 | 37704693 | 37704603 | 37704603 | Missense_Mutation | C | T | p.R102Q |
| JHUEM7_ENDOMETRIUM | 37706114 | 37706173 | 37706136 | 37706136 | Missense_Mutation | T | G | p.Q64H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BRF2 |
| 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 BRF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BRF2 |
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RelatedDrugs for BRF2 |
| 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 BRF2 |
| 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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