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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 AKAP3 |
 Gene summary |
| Gene information | Gene symbol | AKAP3 | Gene ID | 10566 |
| Gene name | A-kinase anchoring protein 3 | |
| Synonyms | AKAP 110|AKAP110|CT82|FSP95|HEL159|PRKA3|SOB1 | |
| Cytomap | 12p13.32 | |
| Type of gene | protein-coding | |
| Description | A-kinase anchor protein 3A kinase (PRKA) anchor protein 3A-kinase anchor protein, 110kDaFibrous Sheath Protein of 95 kDacancer/testis antigen 82epididymis luminal protein 159fibrousheathin Ifibrousheathin-1protein kinase A binding protein AKAP 110 | |
| Modification date | 20180523 | |
| UniProtAcc | O75969 | |
| Context | PubMed: AKAP3 [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 AKAP3 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 AKAP3 |
| 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 AKAP3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_89325 | 12 | 4724676:4725060:4735661:4737971:4747266:4747362 | 4735661:4737971 | ENSG00000111254.3 | ENST00000545990.2,ENST00000228850.1 |
| exon_skip_89326 | 12 | 4747266:4747362:4751064:4751170:4754220:4754323 | 4751064:4751170 | ENSG00000111254.3 | ENST00000545990.2,ENST00000228850.1 |
| exon_skip_89337 | 12 | 4751151:4751170:4754220:4754358:4757910:4758213 | 4754220:4754358 | ENSG00000111254.3 | ENST00000541484.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AKAP3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_89325 | 12 | 4724676:4725060:4735661:4737971:4747266:4747362 | 4735661:4737971 | ENSG00000111254.3 | ENST00000545990.2,ENST00000228850.1 |
| exon_skip_89326 | 12 | 4747266:4747362:4751064:4751170:4754220:4754323 | 4751064:4751170 | ENSG00000111254.3 | ENST00000545990.2,ENST00000228850.1 |
| exon_skip_89331 | 12 | 4747266:4747362:4751064:4751199:4754220:4754323 | 4751064:4751199 | ENSG00000111254.3 | ENST00000536414.1 |
| exon_skip_89337 | 12 | 4751151:4751170:4754220:4754358:4757910:4758213 | 4754220:4754358 | ENSG00000111254.3 | ENST00000541484.1 |
| 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 AKAP3 |
| 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 |
| ENST00000228850 | 4751064 | 4751170 | 3UTR-3UTR |
| ENST00000545990 | 4751064 | 4751170 | 3UTR-3UTR |
| ENST00000228850 | 4735661 | 4737971 | In-frame |
| ENST00000545990 | 4735661 | 4737971 | 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 |
| ENST00000228850 | 4751064 | 4751170 | 3UTR-3UTR |
| ENST00000545990 | 4751064 | 4751170 | 3UTR-3UTR |
| ENST00000228850 | 4735661 | 4737971 | In-frame |
| ENST00000545990 | 4735661 | 4737971 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AKAP3 |
| 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 |
| ENST00000228850 | 3036 | 853 | 4735661 | 4737971 | 326 | 2635 | 32 | 802 |
| ENST00000545990 | 3335 | 853 | 4735661 | 4737971 | 622 | 2931 | 32 | 802 |
| 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 |
| ENST00000228850 | 3036 | 853 | 4735661 | 4737971 | 326 | 2635 | 32 | 802 |
| ENST00000545990 | 3335 | 853 | 4735661 | 4737971 | 622 | 2931 | 32 | 802 |
| 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 |
| O75969 | 32 | 802 | 1 | 853 | Chain | ID=PRO_0000064526;Note=A-kinase anchor protein 3 |
| O75969 | 32 | 802 | 1 | 853 | Chain | ID=PRO_0000064526;Note=A-kinase anchor protein 3 |
| O75969 | 32 | 802 | 205 | 205 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 205 | 205 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 208 | 208 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 208 | 208 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 403 | 403 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 403 | 403 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 404 | 404 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 404 | 404 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 635 | 635 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 635 | 635 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 636 | 636 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 636 | 636 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 131 | 131 | Mutagenesis | Note=Abolishes interaction with ROPN1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278869;Dbxref=PMID:11278869 |
| O75969 | 32 | 802 | 131 | 131 | Mutagenesis | Note=Abolishes interaction with ROPN1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278869;Dbxref=PMID:11278869 |
| O75969 | 32 | 802 | 118 | 118 | Natural variant | ID=VAR_055488;Note=G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10334916,ECO:0000269|PubMed:10529264,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2072355,PMID:10334916,PMID:105292 |
| O75969 | 32 | 802 | 118 | 118 | Natural variant | ID=VAR_055488;Note=G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10334916,ECO:0000269|PubMed:10529264,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2072355,PMID:10334916,PMID:105292 |
| O75969 | 32 | 802 | 464 | 464 | Natural variant | ID=VAR_060730;Note=T->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10319321,ECO:0000269|PubMed:10334916,ECO:0000269|PubMed:10529264;Dbxref=dbSNP:rs11063266,PMID:10319321,PMID:10334916,PMID:10529264 |
| O75969 | 32 | 802 | 464 | 464 | Natural variant | ID=VAR_060730;Note=T->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10319321,ECO:0000269|PubMed:10334916,ECO:0000269|PubMed:10529264;Dbxref=dbSNP:rs11063266,PMID:10319321,PMID:10334916,PMID:10529264 |
| O75969 | 32 | 802 | 500 | 500 | Natural variant | ID=VAR_055489;Note=I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10529264;Dbxref=dbSNP:rs12366671,PMID:10529264 |
| O75969 | 32 | 802 | 500 | 500 | Natural variant | ID=VAR_055489;Note=I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10529264;Dbxref=dbSNP:rs12366671,PMID:10529264 |
| O75969 | 32 | 802 | 525 | 525 | Natural variant | ID=VAR_061000;Note=E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10319321,ECO:0000269|PubMed:10334916,ECO:0000269|PubMed:10529264;Dbxref=dbSNP:rs1990312,PMID:10319321,PMID:10334916,PMID:10529264 |
| O75969 | 32 | 802 | 525 | 525 | Natural variant | ID=VAR_061000;Note=E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10319321,ECO:0000269|PubMed:10334916,ECO:0000269|PubMed:10529264;Dbxref=dbSNP:rs1990312,PMID:10319321,PMID:10334916,PMID:10529264 |
| O75969 | 32 | 802 | 661 | 661 | Natural variant | ID=VAR_055490;Note=I->T;Dbxref=dbSNP:rs1990313 |
| O75969 | 32 | 802 | 661 | 661 | Natural variant | ID=VAR_055490;Note=I->T;Dbxref=dbSNP:rs1990313 |
| O75969 | 32 | 802 | 700 | 700 | Natural variant | ID=VAR_055491;Note=S->F;Dbxref=dbSNP:rs2041291 |
| O75969 | 32 | 802 | 700 | 700 | Natural variant | ID=VAR_055491;Note=S->F;Dbxref=dbSNP:rs2041291 |
| O75969 | 32 | 802 | 700 | 700 | Natural variant | ID=VAR_059112;Note=S->P;Dbxref=dbSNP:rs2041290 |
| O75969 | 32 | 802 | 700 | 700 | Natural variant | ID=VAR_059112;Note=S->P;Dbxref=dbSNP:rs2041290 |
| O75969 | 32 | 802 | 725 | 725 | Natural variant | ID=VAR_055492;Note=S->L;Dbxref=dbSNP:rs2072357 |
| O75969 | 32 | 802 | 725 | 725 | Natural variant | ID=VAR_055492;Note=S->L;Dbxref=dbSNP:rs2072357 |
| O75969 | 32 | 802 | 124 | 137 | Region | Note=PKA-RII subunit binding domain |
| O75969 | 32 | 802 | 124 | 137 | Region | Note=PKA-RII subunit binding domain |
| O75969 | 32 | 802 | 272 | 272 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 272 | 272 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 282 | 282 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 282 | 282 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 402 | 402 | Sequence conflict | Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 402 | 402 | Sequence conflict | Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 467 | 467 | Sequence conflict | Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 467 | 467 | Sequence conflict | Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 597 | 597 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 597 | 597 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 700 | 700 | Sequence conflict | Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 700 | 700 | Sequence conflict | Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| O75969 | 32 | 802 | 1 | 853 | Chain | ID=PRO_0000064526;Note=A-kinase anchor protein 3 |
| O75969 | 32 | 802 | 1 | 853 | Chain | ID=PRO_0000064526;Note=A-kinase anchor protein 3 |
| O75969 | 32 | 802 | 205 | 205 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 205 | 205 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 208 | 208 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 208 | 208 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 403 | 403 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 403 | 403 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 404 | 404 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 404 | 404 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 635 | 635 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 635 | 635 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 636 | 636 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 636 | 636 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:12509440;Dbxref=PMID:12509440 |
| O75969 | 32 | 802 | 131 | 131 | Mutagenesis | Note=Abolishes interaction with ROPN1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278869;Dbxref=PMID:11278869 |
| O75969 | 32 | 802 | 131 | 131 | Mutagenesis | Note=Abolishes interaction with ROPN1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11278869;Dbxref=PMID:11278869 |
| O75969 | 32 | 802 | 118 | 118 | Natural variant | ID=VAR_055488;Note=G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10334916,ECO:0000269|PubMed:10529264,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2072355,PMID:10334916,PMID:105292 |
| O75969 | 32 | 802 | 118 | 118 | Natural variant | ID=VAR_055488;Note=G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10334916,ECO:0000269|PubMed:10529264,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2072355,PMID:10334916,PMID:105292 |
| O75969 | 32 | 802 | 464 | 464 | Natural variant | ID=VAR_060730;Note=T->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10319321,ECO:0000269|PubMed:10334916,ECO:0000269|PubMed:10529264;Dbxref=dbSNP:rs11063266,PMID:10319321,PMID:10334916,PMID:10529264 |
| O75969 | 32 | 802 | 464 | 464 | Natural variant | ID=VAR_060730;Note=T->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10319321,ECO:0000269|PubMed:10334916,ECO:0000269|PubMed:10529264;Dbxref=dbSNP:rs11063266,PMID:10319321,PMID:10334916,PMID:10529264 |
| O75969 | 32 | 802 | 500 | 500 | Natural variant | ID=VAR_055489;Note=I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10529264;Dbxref=dbSNP:rs12366671,PMID:10529264 |
| O75969 | 32 | 802 | 500 | 500 | Natural variant | ID=VAR_055489;Note=I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10529264;Dbxref=dbSNP:rs12366671,PMID:10529264 |
| O75969 | 32 | 802 | 525 | 525 | Natural variant | ID=VAR_061000;Note=E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10319321,ECO:0000269|PubMed:10334916,ECO:0000269|PubMed:10529264;Dbxref=dbSNP:rs1990312,PMID:10319321,PMID:10334916,PMID:10529264 |
| O75969 | 32 | 802 | 525 | 525 | Natural variant | ID=VAR_061000;Note=E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10319321,ECO:0000269|PubMed:10334916,ECO:0000269|PubMed:10529264;Dbxref=dbSNP:rs1990312,PMID:10319321,PMID:10334916,PMID:10529264 |
| O75969 | 32 | 802 | 661 | 661 | Natural variant | ID=VAR_055490;Note=I->T;Dbxref=dbSNP:rs1990313 |
| O75969 | 32 | 802 | 661 | 661 | Natural variant | ID=VAR_055490;Note=I->T;Dbxref=dbSNP:rs1990313 |
| O75969 | 32 | 802 | 700 | 700 | Natural variant | ID=VAR_055491;Note=S->F;Dbxref=dbSNP:rs2041291 |
| O75969 | 32 | 802 | 700 | 700 | Natural variant | ID=VAR_055491;Note=S->F;Dbxref=dbSNP:rs2041291 |
| O75969 | 32 | 802 | 700 | 700 | Natural variant | ID=VAR_059112;Note=S->P;Dbxref=dbSNP:rs2041290 |
| O75969 | 32 | 802 | 700 | 700 | Natural variant | ID=VAR_059112;Note=S->P;Dbxref=dbSNP:rs2041290 |
| O75969 | 32 | 802 | 725 | 725 | Natural variant | ID=VAR_055492;Note=S->L;Dbxref=dbSNP:rs2072357 |
| O75969 | 32 | 802 | 725 | 725 | Natural variant | ID=VAR_055492;Note=S->L;Dbxref=dbSNP:rs2072357 |
| O75969 | 32 | 802 | 124 | 137 | Region | Note=PKA-RII subunit binding domain |
| O75969 | 32 | 802 | 124 | 137 | Region | Note=PKA-RII subunit binding domain |
| O75969 | 32 | 802 | 272 | 272 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 272 | 272 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 282 | 282 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 282 | 282 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 402 | 402 | Sequence conflict | Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 402 | 402 | Sequence conflict | Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 467 | 467 | Sequence conflict | Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 467 | 467 | Sequence conflict | Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 597 | 597 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 597 | 597 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 700 | 700 | Sequence conflict | Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75969 | 32 | 802 | 700 | 700 | Sequence conflict | Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for AKAP3 |
| - 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 |
| COAD | TCGA-AM-5820-01 | exon_skip_89325 | 4735662 | 4737971 | 4735970 | 4735970 | Frame_Shift_Del | A | - | p.S700fs |
| ESCA | TCGA-VR-A8EZ-01 | exon_skip_89325 | 4735662 | 4737971 | 4735970 | 4735970 | Frame_Shift_Del | A | - | p.S700fs |
| LIHC | TCGA-DD-A116-01 | exon_skip_89325 | 4735662 | 4737971 | 4735970 | 4735970 | Frame_Shift_Del | A | - | p.S700fs |
| LIHC | TCGA-DD-A1EA-01 | exon_skip_89325 | 4735662 | 4737971 | 4735970 | 4735970 | Frame_Shift_Del | A | - | p.S700fs |
| TGCT | TCGA-VF-A8A9-01 | exon_skip_89325 | 4735662 | 4737971 | 4735970 | 4735970 | Frame_Shift_Del | A | - | p.S700fs |
| STAD | TCGA-BR-6566-01 | exon_skip_89325 | 4735662 | 4737971 | 4736154 | 4736154 | Frame_Shift_Del | G | - | p.R639fs |
| STAD | TCGA-BR-8078-01 | exon_skip_89325 | 4735662 | 4737971 | 4736154 | 4736154 | Frame_Shift_Del | G | - | p.P638fs |
| STAD | TCGA-BR-8078-01 | exon_skip_89325 | 4735662 | 4737971 | 4736154 | 4736154 | Frame_Shift_Del | G | - | p.R639fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_89325 | 4735662 | 4737971 | 4736677 | 4736677 | Frame_Shift_Del | G | - | p.T464fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_89325 | 4735662 | 4737971 | 4736689 | 4736689 | Frame_Shift_Del | A | - | p.L460fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_89325 | 4735662 | 4737971 | 4736697 | 4736697 | Frame_Shift_Del | C | - | p.G457fs |
| LUAD | TCGA-78-7536-01 | exon_skip_89325 | 4735662 | 4737971 | 4736719 | 4736719 | Frame_Shift_Del | C | - | p.G450fs |
| LUAD | TCGA-05-4424-01 | exon_skip_89325 | 4735662 | 4737971 | 4737560 | 4737560 | Frame_Shift_Del | T | - | p.S170fs |
| COAD | TCGA-AM-5820-01 | exon_skip_89325 | 4735662 | 4737971 | 4735965 | 4735966 | Frame_Shift_Ins | - | C | p.G701fs |
| ESCA | TCGA-VR-A8EZ-01 | exon_skip_89325 | 4735662 | 4737971 | 4735965 | 4735966 | Frame_Shift_Ins | - | C | p.G701fs |
| LIHC | TCGA-DD-A1EA-01 | exon_skip_89325 | 4735662 | 4737971 | 4735965 | 4735966 | Frame_Shift_Ins | - | C | p.G701fs |
| SARC | TCGA-DX-AB32-01 | exon_skip_89325 | 4735662 | 4737971 | 4735965 | 4735966 | Frame_Shift_Ins | - | C | p.G701fs |
| UCEC | TCGA-A5-A0VQ-01 | exon_skip_89325 | 4735662 | 4737971 | 4736767 | 4736768 | Frame_Shift_Ins | - | T | p.M434fs |
| BLCA | TCGA-K4-A3WS-01 | exon_skip_89325 | 4735662 | 4737971 | 4735736 | 4735736 | Nonsense_Mutation | G | A | p.Q778* |
| CESC | TCGA-C5-A2LZ-01 | exon_skip_89325 | 4735662 | 4737971 | 4735736 | 4735736 | Nonsense_Mutation | G | A | p.Q778* |
| SKCM | TCGA-D3-A8GC-06 | exon_skip_89325 | 4735662 | 4737971 | 4735736 | 4735736 | Nonsense_Mutation | G | A | p.Q778* |
| SKCM | TCGA-3N-A9WD-06 | exon_skip_89325 | 4735662 | 4737971 | 4735748 | 4735748 | Nonsense_Mutation | G | A | p.Q774* |
| STAD | TCGA-D7-5578-01 | exon_skip_89325 | 4735662 | 4737971 | 4735889 | 4735889 | Nonsense_Mutation | C | A | p.E727* |
| ESCA | TCGA-L5-A4OW-01 | exon_skip_89325 | 4735662 | 4737971 | 4736090 | 4736090 | Nonsense_Mutation | G | A | p.Q660X |
| READ | TCGA-AG-A002-01 | exon_skip_89325 | 4735662 | 4737971 | 4736321 | 4736321 | Nonsense_Mutation | C | A | p.E583X |
| UCS | TCGA-N5-A4R8-01 | exon_skip_89325 | 4735662 | 4737971 | 4737296 | 4737296 | Nonsense_Mutation | C | A | p.G258* |
| UCS | TCGA-N5-A4R8-01 | exon_skip_89325 | 4735662 | 4737971 | 4737296 | 4737296 | Nonsense_Mutation | C | A | p.G258X |
| READ | TCGA-AG-A002-01 | exon_skip_89325 | 4735662 | 4737971 | 4737701 | 4737701 | Nonsense_Mutation | C | A | p.E123X |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_89325 | 4735662 | 4737971 | 4737875 | 4737875 | Nonsense_Mutation | C | A | p.E65* |
| - 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 |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 4735662 | 4737971 | 4736154 | 4736154 | Frame_Shift_Del | G | - | p.P638fs |
| U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4735662 | 4737971 | 4735961 | 4735975 | In_Frame_Del | CATCTCCAGACTTGT | - | p.DKSGD698del |
| HEC6_ENDOMETRIUM | 4735662 | 4737971 | 4736739 | 4736741 | In_Frame_Del | CTC | - | p.E443del |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4735662 | 4737971 | 4735667 | 4735667 | Missense_Mutation | C | T | p.E801K |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4735662 | 4737971 | 4735687 | 4735687 | Missense_Mutation | C | T | p.G794D |
| NCIBL1395_MATCHED_NORMAL_TISSUE | 4735662 | 4737971 | 4735688 | 4735688 | Missense_Mutation | C | G | p.G794R |
| NCIH1395_LUNG | 4735662 | 4737971 | 4735688 | 4735688 | Missense_Mutation | C | G | p.G794R |
| LOVO_LARGE_INTESTINE | 4735662 | 4737971 | 4735818 | 4735818 | Missense_Mutation | T | G | p.E750D |
| ECGI10_OESOPHAGUS | 4735662 | 4737971 | 4735865 | 4735865 | Missense_Mutation | G | C | p.Q735E |
| LOVO_LARGE_INTESTINE | 4735662 | 4737971 | 4736018 | 4736018 | Missense_Mutation | T | C | p.I684V |
| MDAMB436_BREAST | 4735662 | 4737971 | 4736021 | 4736021 | Missense_Mutation | T | G | p.I683L |
| GP2D_LARGE_INTESTINE | 4735662 | 4737971 | 4736033 | 4736033 | Missense_Mutation | T | C | p.K679E |
| CHAGOK1_LUNG | 4735662 | 4737971 | 4736039 | 4736039 | Missense_Mutation | C | A | p.V677L |
| CAS1_CENTRAL_NERVOUS_SYSTEM | 4735662 | 4737971 | 4736167 | 4736167 | Missense_Mutation | G | A | p.A634V |
| CCK81_LARGE_INTESTINE | 4735662 | 4737971 | 4736168 | 4736168 | Missense_Mutation | C | T | p.A634T |
| SNU899_UPPER_AERODIGESTIVE_TRACT | 4735662 | 4737971 | 4736232 | 4736232 | Missense_Mutation | G | C | p.S612R |
| JHH1_LIVER | 4735662 | 4737971 | 4736242 | 4736242 | Missense_Mutation | C | T | p.R609H |
| SKMM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4735662 | 4737971 | 4736276 | 4736276 | Missense_Mutation | T | A | p.I598F |
| AU565_BREAST | 4735662 | 4737971 | 4736360 | 4736360 | Missense_Mutation | C | G | p.E570Q |
| CORL321_PLEURA | 4735662 | 4737971 | 4736363 | 4736363 | Missense_Mutation | C | A | p.D569Y |
| SNU81_LARGE_INTESTINE | 4735662 | 4737971 | 4736363 | 4736363 | Missense_Mutation | C | T | p.D569N |
| JHUEM1_ENDOMETRIUM | 4735662 | 4737971 | 4736446 | 4736446 | Missense_Mutation | T | G | p.Q541P |
| DETROIT562_UPPER_AERODIGESTIVE_TRACT | 4735662 | 4737971 | 4736528 | 4736528 | Missense_Mutation | C | G | p.E514Q |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4735662 | 4737971 | 4736535 | 4736535 | Missense_Mutation | C | A | p.E511D |
| MEWO_SKIN | 4735662 | 4737971 | 4736563 | 4736563 | Missense_Mutation | T | G | p.N502T |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4735662 | 4737971 | 4736566 | 4736566 | Missense_Mutation | C | T | p.G501D |
| HT144_SKIN | 4735662 | 4737971 | 4736611 | 4736611 | Missense_Mutation | C | T | p.R486H |
| SNGM_ENDOMETRIUM | 4735662 | 4737971 | 4736612 | 4736612 | Missense_Mutation | G | A | p.R486C |
| HSC1_SKIN | 4735662 | 4737971 | 4736756 | 4736756 | Missense_Mutation | G | A | p.P438S |
| IPC298_SKIN | 4735662 | 4737971 | 4736825 | 4736825 | Missense_Mutation | G | A | p.P415S |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4735662 | 4737971 | 4736926 | 4736926 | Missense_Mutation | A | G | p.L381P |
| NCIH650_LUNG | 4735662 | 4737971 | 4736967 | 4736967 | Missense_Mutation | G | T | p.S367R |
| TE5_OESOPHAGUS | 4735662 | 4737971 | 4737048 | 4737048 | Missense_Mutation | A | C | p.N340K |
| SNU423_LIVER | 4735662 | 4737971 | 4737101 | 4737101 | Missense_Mutation | G | A | p.L323F |
| HEC251_ENDOMETRIUM | 4735662 | 4737971 | 4737128 | 4737128 | Missense_Mutation | C | T | p.A314T |
| HCC1359_LUNG | 4735662 | 4737971 | 4737195 | 4737195 | Missense_Mutation | A | C | p.S291R |
| AN3CA_ENDOMETRIUM | 4735662 | 4737971 | 4737196 | 4737196 | Missense_Mutation | C | T | p.S291N |
| NB7_AUTONOMIC_GANGLIA | 4735662 | 4737971 | 4737245 | 4737245 | Missense_Mutation | C | A | p.D275Y |
| SKMEL24_SKIN | 4735662 | 4737971 | 4737316 | 4737316 | Missense_Mutation | C | T | p.G251E |
| PK45H_PANCREAS | 4735662 | 4737971 | 4737344 | 4737344 | Missense_Mutation | A | C | p.Y242D |
| KM12_LARGE_INTESTINE | 4735662 | 4737971 | 4737409 | 4737409 | Missense_Mutation | A | T | p.I220N |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4735662 | 4737971 | 4737439 | 4737439 | Missense_Mutation | G | C | p.P210R |
| NB1643_AUTONOMIC_GANGLIA | 4735662 | 4737971 | 4737490 | 4737490 | Missense_Mutation | T | A | p.D193V |
| C33A_CERVIX | 4735662 | 4737971 | 4737535 | 4737535 | Missense_Mutation | A | G | p.L178P |
| KATOIII_STOMACH | 4735662 | 4737971 | 4737548 | 4737548 | Missense_Mutation | T | A | p.I174L |
| SNU283_LARGE_INTESTINE | 4735662 | 4737971 | 4737598 | 4737598 | Missense_Mutation | T | C | p.Q157R |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4735662 | 4737971 | 4737649 | 4737649 | Missense_Mutation | C | A | p.R140L |
| EFO27_OVARY | 4735662 | 4737971 | 4737654 | 4737654 | Missense_Mutation | C | A | p.M138I |
| C2BBE1_LARGE_INTESTINE | 4735662 | 4737971 | 4737679 | 4737679 | Missense_Mutation | C | T | p.R130H |
| BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4735662 | 4737971 | 4737712 | 4737712 | Missense_Mutation | C | T | p.S119N |
| TGW_AUTONOMIC_GANGLIA | 4735662 | 4737971 | 4737752 | 4737752 | Missense_Mutation | T | C | p.I106V |
| HT115_LARGE_INTESTINE | 4735662 | 4737971 | 4737764 | 4737764 | Missense_Mutation | T | C | p.T102A |
| TE12_OESOPHAGUS | 4735662 | 4737971 | 4737768 | 4737768 | Missense_Mutation | C | A | p.E100D |
| NCIH748_LUNG | 4735662 | 4737971 | 4737820 | 4737820 | Missense_Mutation | A | G | p.V83A |
| NCIH2342_LUNG | 4735662 | 4737971 | 4737823 | 4737823 | Missense_Mutation | G | A | p.S82F |
| MZ7MEL_SKIN | 4735662 | 4737971 | 4737862 | 4737862 | Missense_Mutation | C | T | p.G69E |
| NCIH2342_LUNG | 4735662 | 4737971 | 4737875 | 4737875 | Missense_Mutation | C | T | p.E65K |
| NB7_AUTONOMIC_GANGLIA | 4735662 | 4737971 | 4737889 | 4737889 | Missense_Mutation | C | A | p.R60L |
| BT474_BREAST | 4735662 | 4737971 | 4737890 | 4737890 | Missense_Mutation | G | C | p.R60G |
| KM12_LARGE_INTESTINE | 4735662 | 4737971 | 4737902 | 4737902 | Missense_Mutation | A | G | p.F56L |
| SKOV3_OVARY | 4735662 | 4737971 | 4737915 | 4737915 | Missense_Mutation | C | A | p.K51N |
| SNU1040_LARGE_INTESTINE | 4735662 | 4737971 | 4737931 | 4737931 | Missense_Mutation | C | T | p.R46H |
| DETROIT562_UPPER_AERODIGESTIVE_TRACT | 4735662 | 4737971 | 4737961 | 4737961 | Missense_Mutation | G | A | p.T36M |
| NCIH187_LUNG | 4735662 | 4737971 | 4737964 | 4737964 | Missense_Mutation | G | C | p.S35C |
| UMUC5_URINARY_TRACT | 4735662 | 4737971 | 4737263 | 4737263 | Nonsense_Mutation | G | A | p.R269* |
| HEC251_ENDOMETRIUM | 4735662 | 4737971 | 4737263 | 4737263 | Nonsense_Mutation | G | A | p.R269* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AKAP3 |
| 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 AKAP3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKAP3 |
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RelatedDrugs for AKAP3 |
| 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 AKAP3 |
| 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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