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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 ACTL6A |
 Gene summary |
| Gene information | Gene symbol | ACTL6A | Gene ID | 86 |
| Gene name | actin like 6A | |
| Synonyms | ACTL6|ARPN-BETA|Arp4|BAF53A|INO80K | |
| Cytomap | 3q26.33 | |
| Type of gene | protein-coding | |
| Description | actin-like protein 6A53 kDa BRG1-associated factor ABAF complex 53 kDa subunitBAF53BRG1-associated factor 53AINO80 complex subunit Kactin-related protein 4actin-related protein Baf53aarpNbetahArpN beta | |
| Modification date | 20180519 | |
| UniProtAcc | O96019 | |
| Context | PubMed: ACTL6A [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 |
| ACTL6A | GO:0006338 | chromatin remodeling | 11726552 |
| ACTL6A | GO:0043967 | histone H4 acetylation | 14966270 |
| ACTL6A | GO:0043968 | histone H2A acetylation | 14966270 |
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Exon skipping events across known transcript of Ensembl for ACTL6A 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 ACTL6A |
| 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 ACTL6A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_379600 | 3 | 179287611:179287688:179287854:179288029:179291156:179291257 | 179287854:179288029 | ENSG00000136518.12 | ENST00000450518.2,ENST00000468767.2,ENST00000429709.2,ENST00000494843.1,ENST00000392662.1,ENST00000487978.1 |
| exon_skip_379602 | 3 | 179291156:179291257:179292157:179292255:179293190:179293276 | 179292157:179292255 | ENSG00000136518.12 | ENST00000487978.1 |
| exon_skip_379603 | 3 | 179291156:179291257:179292157:179292289:179293190:179293276 | 179292157:179292289 | ENSG00000136518.12 | ENST00000468767.2 |
| exon_skip_379605 | 3 | 179292168:179292255:179293190:179293292:179294004:179294063 | 179293190:179293292 | ENSG00000136518.12 | ENST00000487978.1 |
| exon_skip_379608 | 3 | 179298681:179298796:179298927:179299008:179301140:179301236 | 179298927:179299008 | ENSG00000136518.12 | ENST00000450518.2,ENST00000429709.2,ENST00000392662.1 |
| exon_skip_379610 | 3 | 179301140:179301236:179304333:179304420:179305717:179306029 | 179304333:179304420 | ENSG00000136518.12 | ENST00000450518.2,ENST00000429709.2,ENST00000392662.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ACTL6A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_379600 | 3 | 179287611:179287688:179287854:179288029:179291156:179291257 | 179287854:179288029 | ENSG00000136518.12 | ENST00000429709.2,ENST00000450518.2,ENST00000392662.1,ENST00000468767.2,ENST00000494843.1,ENST00000487978.1 |
| exon_skip_379602 | 3 | 179291156:179291257:179292157:179292255:179293190:179293276 | 179292157:179292255 | ENSG00000136518.12 | ENST00000487978.1 |
| exon_skip_379603 | 3 | 179291156:179291257:179292157:179292289:179293190:179293276 | 179292157:179292289 | ENSG00000136518.12 | ENST00000468767.2 |
| exon_skip_379605 | 3 | 179292168:179292255:179293190:179293292:179294004:179294063 | 179293190:179293292 | ENSG00000136518.12 | ENST00000487978.1 |
| exon_skip_379608 | 3 | 179298681:179298796:179298927:179299008:179301140:179301236 | 179298927:179299008 | ENSG00000136518.12 | ENST00000429709.2,ENST00000450518.2,ENST00000392662.1 |
| exon_skip_379610 | 3 | 179301140:179301236:179304333:179304420:179305717:179306029 | 179304333:179304420 | ENSG00000136518.12 | ENST00000429709.2,ENST00000450518.2,ENST00000392662.1 |
| 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 ACTL6A |
| 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 |
| ENST00000429709 | 179287854 | 179288029 | Frame-shift |
| ENST00000429709 | 179298927 | 179299008 | In-frame |
| ENST00000429709 | 179304333 | 179304420 | 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 |
| ENST00000429709 | 179287854 | 179288029 | Frame-shift |
| ENST00000429709 | 179298927 | 179299008 | In-frame |
| ENST00000429709 | 179304333 | 179304420 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACTL6A |
| 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 |
| ENST00000429709 | 1918 | 429 | 179298927 | 179299008 | 1159 | 1239 | 315 | 342 |
| ENST00000429709 | 1918 | 429 | 179304333 | 179304420 | 1336 | 1422 | 374 | 403 |
| 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 |
| ENST00000429709 | 1918 | 429 | 179298927 | 179299008 | 1159 | 1239 | 315 | 342 |
| ENST00000429709 | 1918 | 429 | 179304333 | 179304420 | 1336 | 1422 | 374 | 403 |
| 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 |
| O96019 | 315 | 342 | 2 | 429 | Chain | ID=PRO_0000089133;Note=Actin-like protein 6A |
| O96019 | 315 | 342 | 320 | 320 | Sequence conflict | Note=N->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O96019 | 374 | 403 | 2 | 429 | Chain | ID=PRO_0000089133;Note=Actin-like protein 6A |
| O96019 | 374 | 403 | 377 | 377 | Natural variant | ID=VAR_079729;Note=Probable disease-associated mutation found in a patient with developmental delay%2C speech and learning difficulties%2C dysmorphic features and abnormal digits. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28649782;Dbxref= |
| 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 |
| O96019 | 315 | 342 | 2 | 429 | Chain | ID=PRO_0000089133;Note=Actin-like protein 6A |
| O96019 | 315 | 342 | 320 | 320 | Sequence conflict | Note=N->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O96019 | 374 | 403 | 2 | 429 | Chain | ID=PRO_0000089133;Note=Actin-like protein 6A |
| O96019 | 374 | 403 | 377 | 377 | Natural variant | ID=VAR_079729;Note=Probable disease-associated mutation found in a patient with developmental delay%2C speech and learning difficulties%2C dysmorphic features and abnormal digits. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28649782;Dbxref= |
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SNVs in the skipped exons for ACTL6A |
| - 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 |
| LUAD | TCGA-86-A4JF-01 | exon_skip_379600 | 179287855 | 179288029 | 179288016 | 179288016 | Frame_Shift_Del | A | - | p.L88fs |
| STAD | TCGA-BR-8078-01 | exon_skip_379600 | 179287855 | 179288029 | 179288016 | 179288016 | Frame_Shift_Del | A | - | p.L88fs |
| STAD | TCGA-HF-7132-01 | exon_skip_379600 | 179287855 | 179288029 | 179288016 | 179288016 | Frame_Shift_Del | A | - | p.L88fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_379600 | 179287855 | 179288029 | 179288016 | 179288016 | Frame_Shift_Del | A | - | p.L88fs |
| KIRC | TCGA-DV-A4VX-01 | exon_skip_379602 | 179292158 | 179292255 | 179292161 | 179292161 | Frame_Shift_Del | A | - | p.W127X |
| KIRC | TCGA-DV-A4VX-01 | exon_skip_379603 | 179292158 | 179292289 | 179292161 | 179292161 | Frame_Shift_Del | A | - | p.W127X |
| HNSC | TCGA-CV-A6JZ-01 | exon_skip_379608 | 179298928 | 179299008 | 179298935 | 179298935 | Nonsense_Mutation | C | A | p.S318* |
| LUSC | TCGA-21-1070-01 | exon_skip_379602 | 179292158 | 179292255 | 179292256 | 179292256 | Splice_Site | G | T | p.A159_splice |
| STAD | TCGA-BR-6452-01 | exon_skip_379602 | 179292158 | 179292255 | 179292257 | 179292257 | Splice_Site | T | C | . |
| STAD | TCGA-BR-6452-01 | exon_skip_379602 | 179292158 | 179292255 | 179292257 | 179292257 | Splice_Site | T | C | p.A159_splice |
| LIHC | TCGA-DD-AACC-01 | exon_skip_379610 | 179304334 | 179304420 | 179304422 | 179304422 | Splice_Site | T | G | . |
| - 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 |
| HCT116_LARGE_INTESTINE | 179287855 | 179288029 | 179288016 | 179288016 | Frame_Shift_Del | A | - | p.L88fs |
| JHUEM1_ENDOMETRIUM | 179304334 | 179304420 | 179304358 | 179304360 | In_Frame_Del | AAT | - | p.N384del |
| RKO_LARGE_INTESTINE | 179287855 | 179288029 | 179287883 | 179287883 | Missense_Mutation | T | C | p.V44A |
| NCIH378_LUNG | 179287855 | 179288029 | 179287906 | 179287906 | Missense_Mutation | A | C | p.T52P |
| KMH2_THYROID | 179287855 | 179288029 | 179288026 | 179288026 | Missense_Mutation | A | G | p.M92V |
| LS411N_LARGE_INTESTINE | 179304334 | 179304420 | 179304386 | 179304386 | Missense_Mutation | G | A | p.S392N |
| OC316_OVARY | 179304334 | 179304420 | 179304409 | 179304409 | Missense_Mutation | C | A | p.L400I |
| OC314_OVARY | 179304334 | 179304420 | 179304409 | 179304409 | Missense_Mutation | C | A | p.L400I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACTL6A |
| 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 ACTL6A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACTL6A |
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RelatedDrugs for ACTL6A |
| 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 ACTL6A |
| 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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