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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 AKAP6 |
 Gene summary |
| Gene information | Gene symbol | AKAP6 | Gene ID | 9472 |
| Gene name | A-kinase anchoring protein 6 | |
| Synonyms | ADAP100|ADAP6|AKAP100|PRKA6|mAKAP | |
| Cytomap | 14q12 | |
| Type of gene | protein-coding | |
| Description | A-kinase anchor protein 6A kinase (PRKA) anchor protein 6A-kinase anchor protein 100 kDaAKAP 100AKAP-6protein kinase A anchoring protein 6 | |
| Modification date | 20180523 | |
| UniProtAcc | Q13023 | |
| Context | PubMed: AKAP6 [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 |
| AKAP6 | GO:0060306 | regulation of membrane repolarization | 11299204 |
| AKAP6 | GO:0071320 | cellular response to cAMP | 11299204 |
| AKAP6 | GO:1901381 | positive regulation of potassium ion transmembrane transport | 11299204 |
| AKAP6 | GO:1902261 | positive regulation of delayed rectifier potassium channel activity | 11299204 |
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Exon skipping events across known transcript of Ensembl for AKAP6 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 AKAP6 |
| 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 AKAP6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_105971 | 14 | 32798605:32798614:32871203:32871347:32902665:32903023 | 32871203:32871347 | ENSG00000151320.6 | ENST00000557102.1 |
| exon_skip_105975 | 14 | 33014435:33016205:33046325:33046448:33068615:33068712 | 33046325:33046448 | ENSG00000151320.6 | ENST00000280979.4,ENST00000557354.1,ENST00000557272.1 |
| exon_skip_105978 | 14 | 33147516:33147665:33165195:33165316:33201659:33201790 | 33165195:33165316 | ENSG00000151320.6 | ENST00000280979.4,ENST00000555207.1,ENST00000555950.1,ENST00000557354.1,ENST00000557272.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AKAP6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_105971 | 14 | 32798605:32798614:32871203:32871347:32902665:32903023 | 32871203:32871347 | ENSG00000151320.6 | ENST00000557102.1 |
| exon_skip_105975 | 14 | 33014435:33016205:33046325:33046448:33068615:33068712 | 33046325:33046448 | ENSG00000151320.6 | ENST00000280979.4,ENST00000557354.1,ENST00000557272.1 |
| exon_skip_105978 | 14 | 33147516:33147665:33165195:33165316:33201659:33201790 | 33165195:33165316 | ENSG00000151320.6 | ENST00000280979.4,ENST00000557354.1,ENST00000557272.1,ENST00000555207.1,ENST00000555950.1 |
| exon_skip_105979 | 14 | 33242883:33243099:33290607:33294021:33299053:33300023 | 33290607:33294021 | ENSG00000151320.6 | ENST00000280979.4 |
| 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 AKAP6 |
| 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 |
| ENST00000280979 | 33165195 | 33165316 | Frame-shift |
| ENST00000280979 | 33046325 | 33046448 | 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 |
| ENST00000280979 | 33290607 | 33294021 | 3UTR-3CDS |
| ENST00000280979 | 33165195 | 33165316 | Frame-shift |
| ENST00000280979 | 33046325 | 33046448 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AKAP6 |
| 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 |
| ENST00000280979 | 8703 | 2319 | 33046325 | 33046448 | 2517 | 2639 | 782 | 823 |
| 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 |
| ENST00000280979 | 8703 | 2319 | 33046325 | 33046448 | 2517 | 2639 | 782 | 823 |
| 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 |
| Q13023 | 782 | 823 | 1 | 2319 | Chain | ID=PRO_0000064530;Note=A-kinase anchor protein 6 |
| Q13023 | 782 | 823 | 762 | 848 | Repeat | Note=Spectrin 1 |
| 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 |
| Q13023 | 782 | 823 | 1 | 2319 | Chain | ID=PRO_0000064530;Note=A-kinase anchor protein 6 |
| Q13023 | 782 | 823 | 762 | 848 | Repeat | Note=Spectrin 1 |
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SNVs in the skipped exons for AKAP6 |
| - 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_105978 | 33165196 | 33165316 | 33165206 | 33165206 | Frame_Shift_Del | T | - | p.F964fs |
| LIHC | TCGA-2Y-A9GU-01 | exon_skip_105975 | 33046326 | 33046448 | 33046347 | 33046347 | Nonsense_Mutation | G | T | p.E790X |
| LUAD | TCGA-73-4666-01 | exon_skip_105975 | 33046326 | 33046448 | 33046386 | 33046386 | Nonsense_Mutation | G | T | p.E803* |
| HNSC | TCGA-UF-A71D-01 | exon_skip_105978 | 33165196 | 33165316 | 33165313 | 33165313 | Nonsense_Mutation | C | A | p.Y999* |
| LIHC | TCGA-BC-A10R-01 | exon_skip_105978 | 33165196 | 33165316 | 33165314 | 33165314 | Nonsense_Mutation | A | T | p.K1000* |
| - 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 |
| KYSE510_OESOPHAGUS | 33046326 | 33046448 | 33046344 | 33046344 | Missense_Mutation | G | A | p.D789N |
| SNU81_LARGE_INTESTINE | 33046326 | 33046448 | 33046371 | 33046371 | Missense_Mutation | G | A | p.A798T |
| LNCAPCLONEFGC_PROSTATE | 33046326 | 33046448 | 33046406 | 33046406 | Missense_Mutation | A | T | p.K809N |
| HCC1359_LUNG | 33165196 | 33165316 | 33165224 | 33165224 | Nonsense_Mutation | G | T | p.E970* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AKAP6 |
| 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 AKAP6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKAP6 |
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RelatedDrugs for AKAP6 |
| 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 AKAP6 |
| 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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