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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 BRWD1 |
 Gene summary |
| Gene information | Gene symbol | BRWD1 | Gene ID | 54014 |
| Gene name | bromodomain and WD repeat domain containing 1 | |
| Synonyms | C21orf107|DCAF19|N143|WDR9|WRD9 | |
| Cytomap | 21q22.2 | |
| Type of gene | protein-coding | |
| Description | bromodomain and WD repeat-containing protein 1WD repeat protein WDR9-form2WD repeat-containing protein 9transcriptional unit N143 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NSI6 | |
| Context | PubMed: BRWD1 [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 BRWD1 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 BRWD1 |
| 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 BRWD1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENSG00000185658.9 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 |
| exon_skip_361966 | 21 | 40581920:40582073:40582711:40582855:40584591:40584633 | 40582711:40582855 | ENSG00000185658.9 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 |
| exon_skip_361967 | 21 | 40581920:40582073:40582791:40582855:40584591:40584633 | 40582791:40582855 | ENSG00000185658.9 | ENST00000473813.1 |
| exon_skip_361968 | 21 | 40587162:40587288:40590077:40590198:40590430:40590586 | 40590077:40590198 | ENSG00000185658.9 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000473813.1,ENST00000424441.1 |
| exon_skip_361970 | 21 | 40587162:40587288:40590454:40590586:40596333:40596395 | 40590454:40590586 | ENSG00000185658.9 | ENST00000446924.1 |
| exon_skip_361972 | 21 | 40601237:40601362:40604102:40604210:40604298:40604424 | 40604102:40604210 | ENSG00000185658.9 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 |
| exon_skip_361976 | 21 | 40608644:40608710:40610404:40610499:40619626:40619758 | 40610404:40610499 | ENSG00000185658.9 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1,ENST00000445668.1,ENST00000445245.1,ENST00000412604.1,ENST00000430093.1 |
| exon_skip_361977 | 21 | 40610404:40610499:40619626:40619758:40622721:40622815 | 40619626:40619758 | ENSG00000185658.9 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1,ENST00000445668.1,ENST00000445245.1,ENST00000412604.1,ENST00000430093.1 |
| exon_skip_361979 | 21 | 40622721:40622815:40627570:40627754:40630412:40630598 | 40627570:40627754 | ENSG00000185658.9 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1,ENST00000455867.1,ENST00000445245.1,ENST00000430093.1 |
| exon_skip_361980 | 21 | 40622721:40622815:40627590:40627754:40630412:40630598 | 40627590:40627754 | ENSG00000185658.9 | ENST00000412604.1 |
| exon_skip_361981 | 21 | 40646299:40646398:40648098:40648139:40649176:40649277 | 40648098:40648139 | ENSG00000185658.9 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000445668.1,ENST00000455867.1,ENST00000445245.1,ENST00000412604.1,ENST00000430093.1 |
| exon_skip_361984 | 21 | 40684766:40684826:40684997:40685027:40685166:40685225 | 40684997:40685027 | ENSG00000185658.9 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000470108.1,ENST00000341322.4,ENST00000484090.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BRWD1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENSG00000185658.9 | ENST00000333229.2,ENST00000446924.1,ENST00000342449.3,ENST00000380800.3 |
| exon_skip_361966 | 21 | 40581920:40582073:40582711:40582855:40584591:40584633 | 40582711:40582855 | ENSG00000185658.9 | ENST00000333229.2,ENST00000446924.1,ENST00000342449.3,ENST00000380800.3 |
| exon_skip_361967 | 21 | 40581920:40582073:40582791:40582855:40584591:40584633 | 40582791:40582855 | ENSG00000185658.9 | ENST00000473813.1 |
| exon_skip_361968 | 21 | 40587162:40587288:40590077:40590198:40590430:40590586 | 40590077:40590198 | ENSG00000185658.9 | ENST00000333229.2,ENST00000342449.3,ENST00000380800.3,ENST00000424441.1,ENST00000473813.1 |
| exon_skip_361970 | 21 | 40587162:40587288:40590454:40590586:40596333:40596395 | 40590454:40590586 | ENSG00000185658.9 | ENST00000446924.1 |
| exon_skip_361972 | 21 | 40601237:40601362:40604102:40604210:40604298:40604424 | 40604102:40604210 | ENSG00000185658.9 | ENST00000333229.2,ENST00000446924.1,ENST00000342449.3,ENST00000380800.3 |
| exon_skip_361976 | 21 | 40608644:40608710:40610404:40610499:40619626:40619758 | 40610404:40610499 | ENSG00000185658.9 | ENST00000333229.2,ENST00000446924.1,ENST00000342449.3,ENST00000380800.3,ENST00000445668.1,ENST00000430093.1,ENST00000445245.1,ENST00000412604.1 |
| exon_skip_361977 | 21 | 40610404:40610499:40619626:40619758:40622721:40622815 | 40619626:40619758 | ENSG00000185658.9 | ENST00000333229.2,ENST00000446924.1,ENST00000342449.3,ENST00000380800.3,ENST00000445668.1,ENST00000430093.1,ENST00000445245.1,ENST00000412604.1 |
| exon_skip_361979 | 21 | 40622721:40622815:40627570:40627754:40630412:40630598 | 40627570:40627754 | ENSG00000185658.9 | ENST00000333229.2,ENST00000446924.1,ENST00000342449.3,ENST00000380800.3,ENST00000430093.1,ENST00000445245.1,ENST00000455867.1 |
| exon_skip_361980 | 21 | 40622721:40622815:40627590:40627754:40630412:40630598 | 40627590:40627754 | ENSG00000185658.9 | ENST00000412604.1 |
| exon_skip_361981 | 21 | 40646299:40646398:40648098:40648139:40649176:40649277 | 40648098:40648139 | ENSG00000185658.9 | ENST00000333229.2,ENST00000342449.3,ENST00000380800.3,ENST00000445668.1,ENST00000430093.1,ENST00000445245.1,ENST00000455867.1,ENST00000412604.1 |
| exon_skip_361984 | 21 | 40684766:40684826:40684997:40685027:40685166:40685225 | 40684997:40685027 | ENSG00000185658.9 | ENST00000333229.2,ENST00000342449.3,ENST00000380800.3,ENST00000341322.4,ENST00000470108.1,ENST00000484090.1 |
| 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 BRWD1 |
| 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 |
| ENST00000333229 | 40574250 | 40574471 | Frame-shift |
| ENST00000333229 | 40590077 | 40590198 | Frame-shift |
| ENST00000333229 | 40610404 | 40610499 | Frame-shift |
| ENST00000333229 | 40627570 | 40627754 | Frame-shift |
| ENST00000333229 | 40648098 | 40648139 | Frame-shift |
| ENST00000333229 | 40582711 | 40582855 | In-frame |
| ENST00000333229 | 40604102 | 40604210 | In-frame |
| ENST00000333229 | 40619626 | 40619758 | In-frame |
| ENST00000333229 | 40684997 | 40685027 | 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 |
| ENST00000333229 | 40574250 | 40574471 | Frame-shift |
| ENST00000333229 | 40590077 | 40590198 | Frame-shift |
| ENST00000333229 | 40610404 | 40610499 | Frame-shift |
| ENST00000333229 | 40627570 | 40627754 | Frame-shift |
| ENST00000333229 | 40648098 | 40648139 | Frame-shift |
| ENST00000333229 | 40582711 | 40582855 | In-frame |
| ENST00000333229 | 40604102 | 40604210 | In-frame |
| ENST00000333229 | 40619626 | 40619758 | In-frame |
| ENST00000333229 | 40684997 | 40685027 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BRWD1 |
| 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 |
| ENST00000333229 | 10158 | 2320 | 40684997 | 40685027 | 437 | 466 | 36 | 46 |
| ENST00000333229 | 10158 | 2320 | 40619626 | 40619758 | 2678 | 2809 | 783 | 827 |
| ENST00000333229 | 10158 | 2320 | 40604102 | 40604210 | 3221 | 3328 | 964 | 1000 |
| ENST00000333229 | 10158 | 2320 | 40582711 | 40582855 | 4229 | 4372 | 1300 | 1348 |
| 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 |
| ENST00000333229 | 10158 | 2320 | 40684997 | 40685027 | 437 | 466 | 36 | 46 |
| ENST00000333229 | 10158 | 2320 | 40619626 | 40619758 | 2678 | 2809 | 783 | 827 |
| ENST00000333229 | 10158 | 2320 | 40604102 | 40604210 | 3221 | 3328 | 964 | 1000 |
| ENST00000333229 | 10158 | 2320 | 40582711 | 40582855 | 4229 | 4372 | 1300 | 1348 |
| 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 BRWD1 |
| - 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-DD-A1EG-01 | exon_skip_361966 exon_skip_361967 | 40582712 | 40582855 | 40582837 | 40582837 | Frame_Shift_Del | T | - | p.S1307fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_361966 exon_skip_361967 | 40582792 | 40582855 | 40582837 | 40582837 | Frame_Shift_Del | T | - | p.S1307fs |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_361966 exon_skip_361967 | 40582712 | 40582855 | 40582837 | 40582837 | Frame_Shift_Del | T | - | p.S1307fs |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_361966 exon_skip_361967 | 40582792 | 40582855 | 40582837 | 40582837 | Frame_Shift_Del | T | - | p.S1307fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_361972 | 40604103 | 40604210 | 40604114 | 40604114 | Frame_Shift_Del | T | - | p.M997fs |
| COAD | TCGA-CM-5861-01 | exon_skip_361966 exon_skip_361967 | 40582712 | 40582855 | 40582836 | 40582837 | Frame_Shift_Ins | - | T | p.S1307fs |
| COAD | TCGA-CM-5861-01 | exon_skip_361966 exon_skip_361967 | 40582792 | 40582855 | 40582836 | 40582837 | Frame_Shift_Ins | - | T | p.S1307fs |
| HNSC | TCGA-CN-4723-01 | exon_skip_361965 | 40574251 | 40574471 | 40574319 | 40574319 | Nonsense_Mutation | G | C | p.S1506* |
| ESCA | TCGA-LN-A5U7-01 | exon_skip_361966 exon_skip_361967 | 40582712 | 40582855 | 40582750 | 40582750 | Nonsense_Mutation | C | A | p.E1336X |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_361968 | 40590078 | 40590198 | 40590106 | 40590106 | Nonsense_Mutation | G | A | p.R1211* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_361968 | 40590078 | 40590198 | 40590106 | 40590106 | Nonsense_Mutation | G | A | p.R1211X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_361968 | 40590078 | 40590198 | 40590106 | 40590106 | Nonsense_Mutation | G | A | p.R1211* |
| BLCA | TCGA-BT-A20Q-01 | exon_skip_361972 | 40604103 | 40604210 | 40604198 | 40604198 | Nonsense_Mutation | G | A | p.R969* |
| READ | TCGA-EI-6917-01 | exon_skip_361972 | 40604103 | 40604210 | 40604198 | 40604198 | Nonsense_Mutation | G | A | p.R969X |
| READ | TCGA-F5-6814-01 | exon_skip_361972 | 40604103 | 40604210 | 40604198 | 40604198 | Nonsense_Mutation | G | A | p.R969X |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_361972 | 40604103 | 40604210 | 40604198 | 40604198 | Nonsense_Mutation | G | A | p.R969* |
| UCEC | TCGA-AP-A051-01 | exon_skip_361976 | 40610405 | 40610499 | 40610455 | 40610455 | Nonsense_Mutation | C | A | p.G510* |
| - 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 |
| SNGM_ENDOMETRIUM | 40582712 | 40582855 | 40582837 | 40582837 | Frame_Shift_Del | T | - | p.S1307fs |
| SNGM_ENDOMETRIUM | 40582792 | 40582855 | 40582837 | 40582837 | Frame_Shift_Del | T | - | p.S1307fs |
| GP2D_LARGE_INTESTINE | 40582712 | 40582855 | 40582837 | 40582837 | Frame_Shift_Del | T | - | p.S1307fs |
| GP2D_LARGE_INTESTINE | 40582792 | 40582855 | 40582837 | 40582837 | Frame_Shift_Del | T | - | p.S1307fs |
| GP5D_LARGE_INTESTINE | 40582712 | 40582855 | 40582837 | 40582837 | Frame_Shift_Del | T | - | p.S1307fs |
| GP5D_LARGE_INTESTINE | 40582792 | 40582855 | 40582837 | 40582837 | Frame_Shift_Del | T | - | p.S1307fs |
| HCC1569_BREAST | 40582712 | 40582855 | 40582837 | 40582837 | Frame_Shift_Del | T | - | p.S1307fs |
| HCC1569_BREAST | 40582792 | 40582855 | 40582837 | 40582837 | Frame_Shift_Del | T | - | p.S1307fs |
| BT483_BREAST | 40574251 | 40574471 | 40574319 | 40574319 | Missense_Mutation | G | A | p.S1506L |
| KOSC2_UPPER_AERODIGESTIVE_TRACT | 40574251 | 40574471 | 40574322 | 40574322 | Missense_Mutation | G | A | p.S1505F |
| LB2518MEL_SKIN | 40574251 | 40574471 | 40574409 | 40574409 | Missense_Mutation | G | A | p.P1476L |
| 8505C_THYROID | 40574251 | 40574471 | 40574410 | 40574410 | Missense_Mutation | G | A | p.P1476S |
| IMR5_AUTONOMIC_GANGLIA | 40574251 | 40574471 | 40574424 | 40574424 | Missense_Mutation | T | G | p.E1471A |
| HSC3_UPPER_AERODIGESTIVE_TRACT | 40582712 | 40582855 | 40582720 | 40582720 | Missense_Mutation | C | G | p.E1346Q |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40582712 | 40582855 | 40582739 | 40582739 | Missense_Mutation | T | A | p.R1339S |
| NCIH2291_LUNG | 40590455 | 40590586 | 40590533 | 40590533 | Missense_Mutation | C | T | p.E1146K |
| CL40_LARGE_INTESTINE | 40619627 | 40619758 | 40619709 | 40619709 | Missense_Mutation | C | T | p.R800H |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40684998 | 40685027 | 40685002 | 40685002 | Missense_Mutation | T | C | p.Y45C |
| HT115_LARGE_INTESTINE | 40590078 | 40590198 | 40590106 | 40590106 | Nonsense_Mutation | G | A | p.R1211* |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40619627 | 40619758 | 40619757 | 40619757 | Splice_Site | G | C | p.S784W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BRWD1 |
| 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 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | GBM | rs2183573 | chr21:40574305 | A/G | 9.75e-04 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | BLCA | rs2183573 | chr21:40574305 | A/G | 2.91e-04 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | HNSC | rs2183573 | chr21:40574305 | A/G | 4.68e-04 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | BRCA | rs2183573 | chr21:40574305 | A/G | 6.43e-05 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | BRCA | rs2183573 | chr21:40574305 | A/G | 3.13e-04 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | LGG | rs2183573 | chr21:40574305 | A/G | 3.66e-05 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | KIRC | rs2183573 | chr21:40574305 | A/G | 1.71e-08 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | KIRC | rs2183573 | chr21:40574305 | A/G | 6.39e-04 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | LUAD | rs2183573 | chr21:40574305 | A/G | 1.60e-03 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | PRAD | rs2183573 | chr21:40574305 | A/G | 1.23e-03 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | PRAD | rs2183573 | chr21:40574305 | A/G | 2.13e-03 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | STAD | rs2183573 | chr21:40574305 | A/G | 1.03e-03 |
| exon_skip_361965 | 21 | 40572144:40572312:40574250:40574471:40578033:40578200 | 40574250:40574471 | ENST00000380800.3,ENST00000342449.3,ENST00000333229.2,ENST00000446924.1 | THCA | rs2183573 | chr21:40574305 | A/G | 1.15e-07 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BRWD1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BRWD1 |
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RelatedDrugs for BRWD1 |
| 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 BRWD1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BRWD1 | C0028960 | Oligospermia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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