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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 AKAP11 |
 Gene summary |
| Gene information | Gene symbol | AKAP11 | Gene ID | 11215 |
| Gene name | A-kinase anchoring protein 11 | |
| Synonyms | AKAP-11|AKAP220|PPP1R44|PRKA11 | |
| Cytomap | 13q14.11 | |
| Type of gene | protein-coding | |
| Description | A-kinase anchor protein 11A kinase (PRKA) anchor protein 11A-kinase anchor protein 220 kDaA-kinase anchoring protein, 220kDaa kinase anchor protein 220 kDaprotein kinase A anchoring protein 11protein phosphatase 1, regulatory subunit 44 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UKA4 | |
| Context | PubMed: AKAP11 [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 AKAP11 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 AKAP11 |
| 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 AKAP11 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99960 | 13 | 42860435:42860535:42866520:42866637:42869830:42869878 | 42866520:42866637 | ENSG00000023516.7 | ENST00000025301.2 |
| exon_skip_99962 | 13 | 42869830:42869878:42871183:42871318:42872668:42872933 | 42871183:42871318 | ENSG00000023516.7 | ENST00000025301.2 |
| exon_skip_99964 | 13 | 42882589:42882745:42887182:42887266:42888029:42888076 | 42887182:42887266 | ENSG00000023516.7 | ENST00000025301.2 |
| exon_skip_99968 | 13 | 42888029:42888076:42891663:42891824:42893223:42897396 | 42891663:42891824 | ENSG00000023516.7 | ENST00000025301.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AKAP11 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99960 | 13 | 42860435:42860535:42866520:42866637:42869830:42869878 | 42866520:42866637 | ENSG00000023516.7 | ENST00000025301.2 |
| exon_skip_99962 | 13 | 42869830:42869878:42871183:42871318:42872668:42872933 | 42871183:42871318 | ENSG00000023516.7 | ENST00000025301.2 |
| exon_skip_99964 | 13 | 42882589:42882745:42887182:42887266:42888029:42888076 | 42887182:42887266 | ENSG00000023516.7 | ENST00000025301.2 |
| exon_skip_99968 | 13 | 42888029:42888076:42891663:42891824:42893223:42897396 | 42891663:42891824 | ENSG00000023516.7 | ENST00000025301.2 |
| 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 AKAP11 |
| 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 |
| ENST00000025301 | 42891663 | 42891824 | Frame-shift |
| ENST00000025301 | 42866520 | 42866637 | In-frame |
| ENST00000025301 | 42871183 | 42871318 | In-frame |
| ENST00000025301 | 42887182 | 42887266 | 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 |
| ENST00000025301 | 42891663 | 42891824 | Frame-shift |
| ENST00000025301 | 42866520 | 42866637 | In-frame |
| ENST00000025301 | 42871183 | 42871318 | In-frame |
| ENST00000025301 | 42887182 | 42887266 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AKAP11 |
| 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 |
| ENST00000025301 | 9930 | 1901 | 42866520 | 42866637 | 227 | 343 | 17 | 56 |
| ENST00000025301 | 9930 | 1901 | 42871183 | 42871318 | 392 | 526 | 72 | 117 |
| ENST00000025301 | 9930 | 1901 | 42887182 | 42887266 | 5449 | 5532 | 1758 | 1785 |
| 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 |
| ENST00000025301 | 9930 | 1901 | 42866520 | 42866637 | 227 | 343 | 17 | 56 |
| ENST00000025301 | 9930 | 1901 | 42871183 | 42871318 | 392 | 526 | 72 | 117 |
| ENST00000025301 | 9930 | 1901 | 42887182 | 42887266 | 5449 | 5532 | 1758 | 1785 |
| 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 |
| Q9UKA4 | 17 | 56 | 1 | 1901 | Chain | ID=PRO_0000064517;Note=A-kinase anchor protein 11 |
| Q9UKA4 | 17 | 56 | 18 | 18 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:21406692,PMID:23186163 |
| Q9UKA4 | 72 | 117 | 1 | 1901 | Chain | ID=PRO_0000064517;Note=A-kinase anchor protein 11 |
| Q9UKA4 | 1758 | 1785 | 1 | 1901 | Chain | ID=PRO_0000064517;Note=A-kinase anchor protein 11 |
| Q9UKA4 | 1758 | 1785 | 1705 | 1767 | Compositional bias | Note=Ser-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 |
| Q9UKA4 | 17 | 56 | 1 | 1901 | Chain | ID=PRO_0000064517;Note=A-kinase anchor protein 11 |
| Q9UKA4 | 17 | 56 | 18 | 18 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:21406692,PMID:23186163 |
| Q9UKA4 | 72 | 117 | 1 | 1901 | Chain | ID=PRO_0000064517;Note=A-kinase anchor protein 11 |
| Q9UKA4 | 1758 | 1785 | 1 | 1901 | Chain | ID=PRO_0000064517;Note=A-kinase anchor protein 11 |
| Q9UKA4 | 1758 | 1785 | 1705 | 1767 | Compositional bias | Note=Ser-rich |
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SNVs in the skipped exons for AKAP11 |
| - 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. |
AKAP11_ESCA_exon_skip_99964_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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_99962 | 42871184 | 42871318 | 42871186 | 42871186 | Frame_Shift_Del | T | - | p.D73fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_99962 | 42871184 | 42871318 | 42871197 | 42871197 | Frame_Shift_Del | T | - | p.V77fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_99968 | 42891664 | 42891824 | 42891727 | 42891728 | Frame_Shift_Ins | - | C | p.D1823fs |
| ESCA | TCGA-2H-A9GM-01 | exon_skip_99964 | 42887183 | 42887266 | 42887235 | 42887235 | Nonsense_Mutation | G | T | p.E1776* |
| LIHC | TCGA-ES-A2HT-01 | exon_skip_99968 | 42891664 | 42891824 | 42891711 | 42891711 | Nonsense_Mutation | G | T | p.E1818X |
| CESC | TCGA-EK-A2R7-01 | exon_skip_99968 | 42891664 | 42891824 | 42891750 | 42891750 | Nonsense_Mutation | C | T | p.Q1831* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-2H-A9GM-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_99964 | |
| Skipped exon start: 42887183 | |
| Skipped exon end: 42887266 | |
| Mutation start: 42887235 | |
| Mutation end: 42887235 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E1776* | |
exon_skip_336006_ESCA_TCGA-2H-A9GM-01.png | |
exon_skip_99964_ESCA_TCGA-2H-A9GM-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 |
| SNU1040_LARGE_INTESTINE | 42866521 | 42866637 | 42866563 | 42866563 | Missense_Mutation | C | G | p.Q32E |
| KNS62_LUNG | 42871184 | 42871318 | 42871199 | 42871199 | Missense_Mutation | T | G | p.S78A |
| HEC251_ENDOMETRIUM | 42871184 | 42871318 | 42871273 | 42871273 | Missense_Mutation | G | T | p.K102N |
| SNU466_CENTRAL_NERVOUS_SYSTEM | 42891664 | 42891824 | 42891697 | 42891697 | Missense_Mutation | C | T | p.T1813M |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 42891664 | 42891824 | 42891797 | 42891797 | Missense_Mutation | T | G | p.H1846Q |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 42891664 | 42891824 | 42891809 | 42891809 | Missense_Mutation | T | G | p.N1850K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AKAP11 |
| 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 AKAP11 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKAP11 |
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RelatedDrugs for AKAP11 |
| 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 AKAP11 |
| 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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