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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 ACTL6B |
 Gene summary |
| Gene information | Gene symbol | ACTL6B | Gene ID | 51412 |
| Gene name | actin like 6B | |
| Synonyms | ACTL6|BAF53B|arpNalpha | |
| Cytomap | 7q22.1 | |
| Type of gene | protein-coding | |
| Description | actin-like protein 6B53 kDa BRG1-associated factor BBRG1-associated factor 53Bactin-related protein Baf53bhArpN alpha | |
| Modification date | 20180519 | |
| UniProtAcc | O94805 | |
| Context | PubMed: ACTL6B [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 |
| ACTL6B | GO:0006338 | chromatin remodeling | 11726552 |
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Exon skipping events across known transcript of Ensembl for ACTL6B 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 ACTL6B |
| 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 ACTL6B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_478306 | 7 | 100240764:100240949:100243871:100243958:100244173:100244269 | 100243871:100243958 | ENSG00000077080.5 | ENST00000487125.1,ENST00000160382.5 |
| exon_skip_478309 | 7 | 100244173:100244269:100244373:100244454:100244593:100244708 | 100244373:100244454 | ENSG00000077080.5 | ENST00000487125.1,ENST00000160382.5 |
| exon_skip_478311 | 7 | 100247685:100247758:100252641:100252742:100253043:100253076 | 100252641:100252742 | ENSG00000077080.5 | ENST00000485601.1,ENST00000160382.5,ENST00000487225.1,ENST00000461605.1,ENST00000489904.1 |
| exon_skip_478314 | 7 | 100252641:100252742:100253043:100253209:100253425:100253502 | 100253043:100253209 | ENSG00000077080.5 | ENST00000485601.1,ENST00000160382.5 |
| exon_skip_478315 | 7 | 100253043:100253209:100253425:100253502:100253952:100253989 | 100253425:100253502 | ENSG00000077080.5 | ENST00000485601.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ACTL6B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_478306 | 7 | 100240764:100240949:100243871:100243958:100244173:100244269 | 100243871:100243958 | ENSG00000077080.5 | ENST00000160382.5,ENST00000487125.1 |
| exon_skip_478309 | 7 | 100244173:100244269:100244373:100244454:100244593:100244708 | 100244373:100244454 | ENSG00000077080.5 | ENST00000160382.5,ENST00000487125.1 |
| exon_skip_478311 | 7 | 100247685:100247758:100252641:100252742:100253043:100253076 | 100252641:100252742 | ENSG00000077080.5 | ENST00000160382.5,ENST00000485601.1,ENST00000487225.1,ENST00000489904.1,ENST00000461605.1 |
| exon_skip_478314 | 7 | 100252641:100252742:100253043:100253209:100253425:100253502 | 100253043:100253209 | ENSG00000077080.5 | ENST00000160382.5,ENST00000485601.1 |
| exon_skip_478315 | 7 | 100253043:100253209:100253425:100253502:100253952:100253989 | 100253425:100253502 | ENSG00000077080.5 | ENST00000485601.1 |
| 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 ACTL6B |
| 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 |
| ENST00000160382 | 100252641 | 100252742 | Frame-shift |
| ENST00000160382 | 100253043 | 100253209 | Frame-shift |
| ENST00000160382 | 100243871 | 100243958 | In-frame |
| ENST00000160382 | 100244373 | 100244454 | 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 |
| ENST00000160382 | 100252641 | 100252742 | Frame-shift |
| ENST00000160382 | 100253043 | 100253209 | Frame-shift |
| ENST00000160382 | 100243871 | 100243958 | In-frame |
| ENST00000160382 | 100244373 | 100244454 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACTL6B |
| 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 |
| ENST00000160382 | 1554 | 426 | 100244373 | 100244454 | 1044 | 1124 | 312 | 339 |
| ENST00000160382 | 1554 | 426 | 100243871 | 100243958 | 1221 | 1307 | 371 | 400 |
| 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 |
| ENST00000160382 | 1554 | 426 | 100244373 | 100244454 | 1044 | 1124 | 312 | 339 |
| ENST00000160382 | 1554 | 426 | 100243871 | 100243958 | 1221 | 1307 | 371 | 400 |
| 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 |
| O94805 | 312 | 339 | 1 | 426 | Chain | ID=PRO_0000089135;Note=Actin-like protein 6B |
| O94805 | 371 | 400 | 1 | 426 | Chain | ID=PRO_0000089135;Note=Actin-like protein 6B |
| 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 |
| O94805 | 312 | 339 | 1 | 426 | Chain | ID=PRO_0000089135;Note=Actin-like protein 6B |
| O94805 | 371 | 400 | 1 | 426 | Chain | ID=PRO_0000089135;Note=Actin-like protein 6B |
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SNVs in the skipped exons for ACTL6B |
| - 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-A39Y-01 | exon_skip_478306 | 100243872 | 100243958 | 100243891 | 100243891 | Frame_Shift_Del | C | - | p.G394fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_478306 | 100243872 | 100243958 | 100243891 | 100243891 | Frame_Shift_Del | C | - | p.G394fs |
| STAD | TCGA-CD-8536-01 | exon_skip_478314 | 100253044 | 100253209 | 100253163 | 100253163 | Frame_Shift_Del | C | - | p.G50fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_478314 | 100253044 | 100253209 | 100253198 | 100253198 | Frame_Shift_Del | G | - | p.P38fs |
| BLCA | TCGA-XF-AAN5-01 | exon_skip_478315 | 100253426 | 100253502 | 100253457 | 100253457 | Frame_Shift_Del | C | - | p.R24fs |
| BLCA | TCGA-GC-A3RD-01 | exon_skip_478311 | 100252642 | 100252742 | 100252715 | 100252716 | Frame_Shift_Ins | - | T | p.I99fs |
| OV | TCGA-24-1423-01 | exon_skip_478306 | 100243872 | 100243958 | 100243919 | 100243919 | Nonsense_Mutation | C | A | p.E385* |
| COAD | TCGA-CM-5860-01 | exon_skip_478306 | 100243872 | 100243958 | 100243871 | 100243871 | Splice_Site | C | T | . |
| - 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 |
| LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100243872 | 100243958 | 100243917 | 100243918 | Frame_Shift_Ins | - | T | p.E385fs |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100243872 | 100243958 | 100243895 | 100243895 | Missense_Mutation | C | T | p.G393R |
| RKO_LARGE_INTESTINE | 100243872 | 100243958 | 100243920 | 100243920 | Missense_Mutation | C | A | p.M384I |
| AN3CA_ENDOMETRIUM | 100244374 | 100244454 | 100244379 | 100244379 | Missense_Mutation | G | A | p.R338C |
| HEC108_ENDOMETRIUM | 100244374 | 100244454 | 100244381 | 100244381 | Missense_Mutation | A | G | p.I337T |
| GP2D_LARGE_INTESTINE | 100252642 | 100252742 | 100252679 | 100252679 | Missense_Mutation | T | G | p.E111A |
| GP5D_LARGE_INTESTINE | 100252642 | 100252742 | 100252679 | 100252679 | Missense_Mutation | T | G | p.E111A |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100253044 | 100253209 | 100253076 | 100253076 | Missense_Mutation | G | A | p.A79V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100253044 | 100253209 | 100253141 | 100253141 | Missense_Mutation | G | C | p.D57E |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100253044 | 100253209 | 100253141 | 100253141 | Missense_Mutation | G | C | p.D57E |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100253044 | 100253209 | 100253161 | 100253161 | Missense_Mutation | C | A | p.G51W |
| 22RV1_PROSTATE | 100253044 | 100253209 | 100253209 | 100253209 | Splice_Site | C | T | p.A35T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACTL6B |
| 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 ACTL6B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACTL6B |
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RelatedDrugs for ACTL6B |
| 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 ACTL6B |
| 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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