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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 BCL9L |
 Gene summary |
| Gene information | Gene symbol | BCL9L | Gene ID | 283149 |
| Gene name | B cell CLL/lymphoma 9 like | |
| Synonyms | BCL9-2|DLNB11 | |
| Cytomap | 11q23.3 | |
| Type of gene | protein-coding | |
| Description | B-cell CLL/lymphoma 9-like proteinB-cell lymphoma 9-like proteinBCL9-like proteinnuclear co-factor of beta-catenin signallingprotein BCL9-2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q86UU0 | |
| Context | PubMed: BCL9L [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 BCL9L 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 BCL9L |
| 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 BCL9L |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77842 | 11 | 118768454:118770217:118770625:118770907:118771327:118771470 | 118770625:118770907 | ENSG00000186174.8 | ENST00000526143.1,ENST00000334801.3 |
| exon_skip_77844 | 11 | 118773698:118773783:118773944:118774161:118778191:118778311 | 118773944:118774161 | ENSG00000186174.8 | ENST00000526143.1,ENST00000334801.3 |
| exon_skip_77846 | 11 | 118778191:118778311:118778978:118779364:118795946:118796317 | 118778978:118779364 | ENSG00000186174.8 | ENST00000526143.1 |
| exon_skip_77851 | 11 | 118778978:118779364:118780622:118780724:118789534:118789588 | 118780622:118780724 | ENSG00000186174.8 | ENST00000532899.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCL9L |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77842 | 11 | 118768454:118770217:118770625:118770907:118771327:118771470 | 118770625:118770907 | ENSG00000186174.8 | ENST00000334801.3,ENST00000526143.1 |
| exon_skip_77844 | 11 | 118773698:118773783:118773944:118774161:118778191:118778311 | 118773944:118774161 | ENSG00000186174.8 | ENST00000334801.3,ENST00000526143.1 |
| exon_skip_77846 | 11 | 118778191:118778311:118778978:118779364:118795946:118796317 | 118778978:118779364 | ENSG00000186174.8 | ENST00000526143.1 |
| exon_skip_77851 | 11 | 118778978:118779364:118780622:118780724:118789534:118789588 | 118780622:118780724 | ENSG00000186174.8 | ENST00000532899.1 |
| 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 BCL9L |
| 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 |
| ENST00000334801 | 118773944 | 118774161 | Frame-shift |
| ENST00000334801 | 118770625 | 118770907 | 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 |
| ENST00000334801 | 118773944 | 118774161 | Frame-shift |
| ENST00000334801 | 118770625 | 118770907 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCL9L |
| 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 |
| ENST00000334801 | 10022 | 1499 | 118770625 | 118770907 | 4090 | 4371 | 1041 | 1135 |
| 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 |
| ENST00000334801 | 10022 | 1499 | 118770625 | 118770907 | 4090 | 4371 | 1041 | 1135 |
| 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 |
| Q86UU0 | 1041 | 1135 | 1 | 1499 | Chain | ID=PRO_0000314079;Note=B-cell CLL/lymphoma 9-like protein |
| Q86UU0 | 1041 | 1135 | 891 | 1378 | Compositional bias | Note=Pro-rich |
| 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 |
| Q86UU0 | 1041 | 1135 | 1 | 1499 | Chain | ID=PRO_0000314079;Note=B-cell CLL/lymphoma 9-like protein |
| Q86UU0 | 1041 | 1135 | 891 | 1378 | Compositional bias | Note=Pro-rich |
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SNVs in the skipped exons for BCL9L |
| - 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. |
BCL9L_STAD_exon_skip_77846_psi_boxplot.png |
| - 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-AA-3663-01 | exon_skip_77842 | 118770626 | 118770907 | 118770652 | 118770652 | Frame_Shift_Del | G | - | p.P1127fs |
| COAD | TCGA-AD-5900-01 | exon_skip_77842 | 118770626 | 118770907 | 118770652 | 118770652 | Frame_Shift_Del | G | - | p.P1127fs |
| STAD | TCGA-D7-A4YV-01 | exon_skip_77842 | 118770626 | 118770907 | 118770652 | 118770652 | Frame_Shift_Del | G | - | p.P1127fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_77842 | 118770626 | 118770907 | 118770652 | 118770652 | Frame_Shift_Del | G | - | p.P1127fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_77842 | 118770626 | 118770907 | 118770652 | 118770652 | Frame_Shift_Del | G | - | p.P1127fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_77842 | 118770626 | 118770907 | 118770652 | 118770652 | Frame_Shift_Del | G | - | p.P1130fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_77842 | 118770626 | 118770907 | 118770884 | 118770884 | Frame_Shift_Del | G | - | p.R1050fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_77846 | 118778979 | 118779364 | 118779099 | 118779099 | Frame_Shift_Del | G | - | p.Q98fs |
| STAD | TCGA-BR-8361-01 | exon_skip_77846 | 118778979 | 118779364 | 118779296 | 118779296 | Frame_Shift_Del | G | - | p.P32fs |
| STAD | TCGA-CG-5726-01 | exon_skip_77846 | 118778979 | 118779364 | 118779296 | 118779296 | Frame_Shift_Del | G | - | p.P32fs |
| READ | TCGA-AG-4022-01 | exon_skip_77846 | 118778979 | 118779364 | 118779352 | 118779352 | Frame_Shift_Del | G | - | p.R14fs |
| BRCA | TCGA-E9-A1NC-01 | exon_skip_77842 | 118770626 | 118770907 | 118770651 | 118770652 | Frame_Shift_Ins | - | G | p.P1128fs |
| COAD | TCGA-D5-6927-01 | exon_skip_77842 | 118770626 | 118770907 | 118770651 | 118770652 | Frame_Shift_Ins | - | G | p.P1127fs |
| COAD | TCGA-G4-6628-01 | exon_skip_77842 | 118770626 | 118770907 | 118770651 | 118770652 | Frame_Shift_Ins | - | G | p.P1127fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_77842 | 118770626 | 118770907 | 118770651 | 118770652 | Frame_Shift_Ins | - | G | p.P1128fs |
| KIRC | TCGA-A3-3363-01 | exon_skip_77842 | 118770626 | 118770907 | 118770651 | 118770652 | Frame_Shift_Ins | - | G | p.P1127fs |
| PAAD | TCGA-3A-A9IU-01 | exon_skip_77842 | 118770626 | 118770907 | 118770651 | 118770652 | Frame_Shift_Ins | - | G | p.P1127fs |
| READ | TCGA-EI-6508-01 | exon_skip_77842 | 118770626 | 118770907 | 118770651 | 118770652 | Frame_Shift_Ins | - | G | p.P1127fs |
| STAD | TCGA-BR-4370-01 | exon_skip_77842 | 118770626 | 118770907 | 118770652 | 118770653 | Frame_Shift_Ins | - | G | p.P1127fs |
| STAD | TCGA-BR-6801-01 | exon_skip_77842 | 118770626 | 118770907 | 118770652 | 118770653 | Frame_Shift_Ins | - | G | p.P1127fs |
| STAD | TCGA-CG-4442-01 | exon_skip_77842 | 118770626 | 118770907 | 118770652 | 118770653 | Frame_Shift_Ins | - | G | p.P1127fs |
| STAD | TCGA-FP-A4BE-01 | exon_skip_77842 | 118770626 | 118770907 | 118770652 | 118770653 | Frame_Shift_Ins | - | G | p.P1127fs |
| LUAD | TCGA-44-6775-01 | exon_skip_77842 | 118770626 | 118770907 | 118770846 | 118770847 | Frame_Shift_Ins | - | C | p.R1062fs |
| LUAD | TCGA-44-6775-01 | exon_skip_77842 | 118770626 | 118770907 | 118770846 | 118770847 | Frame_Shift_Ins | - | C | p.S1062fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_77842 | 118770626 | 118770907 | 118770883 | 118770884 | Frame_Shift_Ins | - | G | p.E1050fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-8361-01 |
| Cancer type: STAD | |
| ESID: exon_skip_77846 | |
| Skipped exon start: 118778979 | |
| Skipped exon end: 118779364 | |
| Mutation start: 118779296 | |
| Mutation end: 118779296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P32fs | |
exon_skip_308974_STAD_TCGA-BR-8361-01.png | |
exon_skip_346425_STAD_TCGA-BR-8361-01.png | |
exon_skip_346426_STAD_TCGA-BR-8361-01.png | |
exon_skip_35193_STAD_TCGA-BR-8361-01.png | |
exon_skip_361242_STAD_TCGA-BR-8361-01.png | |
exon_skip_379370_STAD_TCGA-BR-8361-01.png | |
exon_skip_388276_STAD_TCGA-BR-8361-01.png | |
exon_skip_421737_STAD_TCGA-BR-8361-01.png | |
exon_skip_511069_STAD_TCGA-BR-8361-01.png | |
exon_skip_517775_STAD_TCGA-BR-8361-01.png | |
exon_skip_77254_STAD_TCGA-BR-8361-01.png | |
exon_skip_77846_STAD_TCGA-BR-8361-01.png | |
exon_skip_91288_STAD_TCGA-BR-8361-01.png | |
| - 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 |
| NCIH2106_LUNG | 118773945 | 118774161 | 118773984 | 118773985 | Frame_Shift_Del | GA | - | p.S237fs |
| HEC151_ENDOMETRIUM | 118773945 | 118774161 | 118774128 | 118774128 | Frame_Shift_Del | G | - | p.P189fs |
| CL34_LARGE_INTESTINE | 118778979 | 118779364 | 118779296 | 118779296 | Frame_Shift_Del | G | - | p.P32fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118778979 | 118779364 | 118779136 | 118779137 | Frame_Shift_Ins | - | T | p.N85fs |
| NCIH446_LUNG | 118773945 | 118774161 | 118774002 | 118774003 | In_Frame_Ins | - | CGCCCC | p.230_231insGG |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118770626 | 118770907 | 118770676 | 118770676 | Missense_Mutation | G | A | p.P1119L |
| TOV21G_OVARY | 118770626 | 118770907 | 118770677 | 118770677 | Missense_Mutation | G | A | p.P1119S |
| DMS53_LUNG | 118770626 | 118770907 | 118770701 | 118770701 | Missense_Mutation | C | A | p.A1111S |
| LS411N_LARGE_INTESTINE | 118770626 | 118770907 | 118770701 | 118770701 | Missense_Mutation | C | T | p.A1111T |
| HEC108_ENDOMETRIUM | 118770626 | 118770907 | 118770869 | 118770869 | Missense_Mutation | C | T | p.A1055T |
| LS411N_LARGE_INTESTINE | 118770626 | 118770907 | 118770884 | 118770884 | Missense_Mutation | G | A | p.R1050W |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118773945 | 118774161 | 118773976 | 118773976 | Missense_Mutation | C | T | p.V240I |
| HS939T_SKIN | 118773945 | 118774161 | 118773988 | 118773988 | Missense_Mutation | G | A | p.P236S |
| COLO680N_OESOPHAGUS | 118773945 | 118774161 | 118774000 | 118774000 | Missense_Mutation | G | T | p.P232T |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118773945 | 118774161 | 118774009 | 118774009 | Missense_Mutation | C | T | p.G229R |
| T84_LARGE_INTESTINE | 118773945 | 118774161 | 118774015 | 118774015 | Missense_Mutation | C | T | p.G227R |
| HCC2450_LUNG | 118773945 | 118774161 | 118774042 | 118774042 | Missense_Mutation | G | A | p.R218W |
| EN_ENDOMETRIUM | 118773945 | 118774161 | 118774060 | 118774060 | Missense_Mutation | C | T | p.G212S |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118773945 | 118774161 | 118774065 | 118774065 | Missense_Mutation | G | A | p.P210L |
| CORL24_LUNG | 118773945 | 118774161 | 118774087 | 118774087 | Missense_Mutation | C | G | p.E203Q |
| LS411N_LARGE_INTESTINE | 118773945 | 118774161 | 118774135 | 118774135 | Missense_Mutation | C | T | p.A187T |
| M980513_SKIN | 118778979 | 118779364 | 118779101 | 118779101 | Missense_Mutation | G | A | p.P97L |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118778979 | 118779364 | 118779155 | 118779155 | Missense_Mutation | T | C | p.N79S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 118778979 | 118779364 | 118779155 | 118779155 | Missense_Mutation | T | C | p.N79S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118778979 | 118779364 | 118779183 | 118779183 | Missense_Mutation | C | G | p.V70L |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118778979 | 118779364 | 118779248 | 118779248 | Missense_Mutation | C | T | p.G48D |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118778979 | 118779364 | 118779306 | 118779306 | Missense_Mutation | G | A | p.H29Y |
| IGROV1_OVARY | 118778979 | 118779364 | 118779318 | 118779318 | Missense_Mutation | A | G | p.S25P |
| BB30HNC_UPPER_AERODIGESTIVE_TRACT | 118780623 | 118780724 | 118780633 | 118780633 | Missense_Mutation | T | A | p.N6Y |
| BB30PBL_MATCHED_NORMAL_TISSUE | 118780623 | 118780724 | 118780633 | 118780633 | Missense_Mutation | T | A | p.N6Y |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118780623 | 118780724 | 118780623 | 118780623 | Splice_Site | C | A | p.R9M |
| HCT15_LARGE_INTESTINE | 118780623 | 118780724 | 118780623 | 118780623 | Splice_Site | C | A | p.R9M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCL9L |
| 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 BCL9L |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCL9L |
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RelatedDrugs for BCL9L |
| 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 BCL9L |
| 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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