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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 AKAP7 |
 Gene summary |
| Gene information | Gene symbol | AKAP7 | Gene ID | 9465 |
| Gene name | A-kinase anchoring protein 7 | |
| Synonyms | AKAP15|AKAP18 | |
| Cytomap | 6q23.2 | |
| Type of gene | protein-coding | |
| Description | A-kinase anchoring protein 7A kinase (PRKA) anchor protein 7A-kinase anchor protein 18 kDaA-kinase anchor protein 9 kDaAKAP 18 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9P0M2 | |
| Context | PubMed: AKAP7 [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 AKAP7 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 AKAP7 |
| 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 AKAP7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_454188 | 6 | 131481314:131481338:131485537:131485672:131486220:131486289 | 131485537:131485672 | ENSG00000118507.11 | ENST00000479599.2 |
| exon_skip_454189 | 6 | 131486220:131486357:131490252:131490413:131520600:131520713 | 131490252:131490413 | ENSG00000118507.11 | ENST00000368123.4,ENST00000541650.1,ENST00000431975.2 |
| exon_skip_454190 | 6 | 131486220:131486357:131490252:131490413:131540800:131540890 | 131490252:131490413 | ENSG00000118507.11 | ENST00000543815.1 |
| exon_skip_454192 | 6 | 131490252:131490413:131520600:131520713:131540800:131540890 | 131520600:131520713 | ENSG00000118507.11 | ENST00000368123.4,ENST00000541650.1,ENST00000431975.2 |
| exon_skip_454194 | 6 | 131520600:131520713:131540800:131540948:131602669:131603083 | 131540800:131540948 | ENSG00000118507.11 | ENST00000368123.4,ENST00000431975.2 |
| exon_skip_454197 | 6 | 131571569:131571756:131574176:131574245:131602669:131603083 | 131574176:131574245 | ENSG00000118507.11 | ENST00000474850.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AKAP7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_454188 | 6 | 131481314:131481338:131485537:131485672:131486220:131486289 | 131485537:131485672 | ENSG00000118507.11 | ENST00000479599.2 |
| exon_skip_454189 | 6 | 131486220:131486357:131490252:131490413:131520600:131520713 | 131490252:131490413 | ENSG00000118507.11 | ENST00000431975.2,ENST00000541650.1,ENST00000368123.4 |
| exon_skip_454190 | 6 | 131486220:131486357:131490252:131490413:131540800:131540890 | 131490252:131490413 | ENSG00000118507.11 | ENST00000543815.1 |
| exon_skip_454191 | 6 | 131486220:131486357:131520600:131520713:131540800:131540890 | 131520600:131520713 | ENSG00000118507.11 | ENST00000535150.1 |
| exon_skip_454192 | 6 | 131490252:131490413:131520600:131520713:131540800:131540890 | 131520600:131520713 | ENSG00000118507.11 | ENST00000431975.2,ENST00000541650.1,ENST00000368123.4 |
| exon_skip_454194 | 6 | 131520600:131520713:131540800:131540948:131602669:131603083 | 131540800:131540948 | ENSG00000118507.11 | ENST00000431975.2,ENST00000368123.4 |
| exon_skip_454197 | 6 | 131571569:131571756:131574176:131574245:131602669:131603083 | 131574176:131574245 | ENSG00000118507.11 | ENST00000474850.2 |
| 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 AKAP7 |
| 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 |
| ENST00000431975 | 131490252 | 131490413 | Frame-shift |
| ENST00000431975 | 131520600 | 131520713 | Frame-shift |
| ENST00000431975 | 131540800 | 131540948 | Frame-shift |
| ENST00000474850 | 131574176 | 131574245 | 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 |
| ENST00000431975 | 131490252 | 131490413 | Frame-shift |
| ENST00000431975 | 131520600 | 131520713 | Frame-shift |
| ENST00000431975 | 131540800 | 131540948 | Frame-shift |
| ENST00000474850 | 131574176 | 131574245 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AKAP7 |
| 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 |
| ENST00000474850 | 687 | 348 | 131574176 | 131574245 | 188 | 256 | 16 | 39 |
| 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 |
| ENST00000474850 | 687 | 348 | 131574176 | 131574245 | 188 | 256 | 16 | 39 |
| 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 |
| Q9P0M2 | 16 | 39 | 1 | 348 | Chain | ID=PRO_0000064523;Note=A-kinase anchor protein 7 isoform gamma |
| Q9P0M2 | 16 | 39 | 26 | 26 | Natural variant | ID=VAR_024246;Note=E->K;Dbxref=dbSNP:rs7771473 |
| 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 |
| Q9P0M2 | 16 | 39 | 1 | 348 | Chain | ID=PRO_0000064523;Note=A-kinase anchor protein 7 isoform gamma |
| Q9P0M2 | 16 | 39 | 26 | 26 | Natural variant | ID=VAR_024246;Note=E->K;Dbxref=dbSNP:rs7771473 |
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SNVs in the skipped exons for AKAP7 |
| - 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_454192 | 131520601 | 131520713 | 131520625 | 131520625 | Frame_Shift_Del | A | - | p.E205fs |
| HNSC | TCGA-CQ-6218-01 | exon_skip_454194 | 131540801 | 131540948 | 131540807 | 131540807 | Frame_Shift_Del | A | - | p.K237fs |
| HNSC | TCGA-CQ-6218-01 | exon_skip_454194 | 131540801 | 131540948 | 131540807 | 131540807 | Frame_Shift_Del | A | - | p.K238fs |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_454194 | 131540801 | 131540948 | 131540807 | 131540807 | Frame_Shift_Del | A | - | p.K215fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_454194 | 131540801 | 131540948 | 131540900 | 131540900 | Frame_Shift_Del | A | - | p.K267fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_454194 | 131540801 | 131540948 | 131540900 | 131540900 | Frame_Shift_Del | A | - | p.K269fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_454194 | 131540801 | 131540948 | 131540900 | 131540900 | Frame_Shift_Del | A | - | p.K269fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_454194 | 131540801 | 131540948 | 131540910 | 131540910 | Frame_Shift_Del | G | - | p.S271fs |
| LGG | TCGA-DU-6392-01 | exon_skip_454189 exon_skip_454190 | 131490253 | 131490413 | 131490380 | 131490380 | Nonsense_Mutation | G | T | p.G186* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_454192 | 131520601 | 131520713 | 131520624 | 131520624 | Nonsense_Mutation | G | T | p.E183* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_454194 | 131540801 | 131540948 | 131540861 | 131540861 | Nonsense_Mutation | G | T | p.E233* |
| - 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 |
| SNUC5_LARGE_INTESTINE | 131540801 | 131540948 | 131540807 | 131540807 | Frame_Shift_Del | A | - | p.K238fs |
| T84_LARGE_INTESTINE | 131490253 | 131490413 | 131490322 | 131490322 | Missense_Mutation | G | C | p.L166F |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131490253 | 131490413 | 131490387 | 131490387 | Missense_Mutation | A | G | p.H188R |
| SH10TC_STOMACH | 131520601 | 131520713 | 131520643 | 131520643 | Missense_Mutation | G | A | p.G211E |
| AGS_STOMACH | 131520601 | 131520713 | 131520657 | 131520657 | Missense_Mutation | T | A | p.F216I |
| SW684_SOFT_TISSUE | 131520601 | 131520713 | 131520694 | 131520694 | Missense_Mutation | C | T | p.S228L |
| NCIH187_LUNG | 131540801 | 131540948 | 131540861 | 131540861 | Missense_Mutation | G | C | p.E255Q |
| SNU81_LARGE_INTESTINE | 131490253 | 131490413 | 131490293 | 131490293 | Nonsense_Mutation | G | T | p.E157* |
| KP3_PANCREAS | 131520601 | 131520713 | 131520601 | 131520601 | Splice_Site | A | C | p.E197A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AKAP7 |
| 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 AKAP7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKAP7 |
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RelatedDrugs for AKAP7 |
| 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 AKAP7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AKAP7 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
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