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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 APOO |
 Gene summary |
| Gene information | Gene symbol | APOO | Gene ID | 79135 |
| Gene name | apolipoprotein O | |
| Synonyms | FAM121B|MIC26|Mic23|My025 | |
| Cytomap | Xp22.11 | |
| Type of gene | protein-coding | |
| Description | MICOS complex subunit MIC26MICOS complex subunit MIC23brain my025family with sequence similarity 121B | |
| Modification date | 20180519 | |
| UniProtAcc | Q9BUR5 | |
| Context | PubMed: APOO [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 APOO 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 APOO |
| 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 APOO |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_514359 | X | 23851483:23851627:23858429:23858494:23874418:23874499 | 23858429:23858494 | ENSG00000184831.9 | ENST00000490078.1,ENST00000439528.1 |
| exon_skip_514363 | X | 23851480:23851729:23858429:23858494:23874418:23874499 | 23858429:23858494 | ENSG00000184831.9 | ENST00000379226.4,ENST00000379220.3 |
| exon_skip_514368 | X | 23858429:23858494:23874418:23874499:23876758:23876850 | 23874418:23874499 | ENSG00000184831.9 | ENST00000379226.4,ENST00000379220.3,ENST00000490078.1,ENST00000439528.1 |
| exon_skip_514376 | X | 23874418:23874499:23876758:23876850:23886709:23886770 | 23876758:23876850 | ENSG00000184831.9 | ENST00000379226.4,ENST00000379220.3,ENST00000490078.1,ENST00000439528.1 |
| exon_skip_514380 | X | 23876758:23876850:23886709:23886805:23892519:23892574 | 23886709:23886805 | ENSG00000184831.9 | ENST00000379226.4,ENST00000439528.1 |
| exon_skip_514381 | X | 23876758:23876850:23886709:23886805:23897031:23897151 | 23886709:23886805 | ENSG00000184831.9 | ENST00000490078.1 |
| exon_skip_514384 | X | 23886772:23886805:23892519:23892574:23897031:23897151 | 23892519:23892574 | ENSG00000184831.9 | ENST00000379226.4,ENST00000439528.1 |
| exon_skip_514389 | X | 23897031:23897151:23898961:23899069:23925810:23926020 | 23898961:23899069 | ENSG00000184831.9 | ENST00000379220.3,ENST00000490078.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for APOO |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_514359 | X | 23851483:23851627:23858429:23858494:23874418:23874499 | 23858429:23858494 | ENSG00000184831.9 | ENST00000439528.1,ENST00000490078.1 |
| exon_skip_514363 | X | 23851480:23851729:23858429:23858494:23874418:23874499 | 23858429:23858494 | ENSG00000184831.9 | ENST00000379226.4,ENST00000379220.3 |
| exon_skip_514368 | X | 23858429:23858494:23874418:23874499:23876758:23876850 | 23874418:23874499 | ENSG00000184831.9 | ENST00000379226.4,ENST00000439528.1,ENST00000379220.3,ENST00000490078.1 |
| exon_skip_514380 | X | 23876758:23876850:23886709:23886805:23892519:23892574 | 23886709:23886805 | ENSG00000184831.9 | ENST00000379226.4,ENST00000439528.1 |
| exon_skip_514381 | X | 23876758:23876850:23886709:23886805:23897031:23897151 | 23886709:23886805 | ENSG00000184831.9 | ENST00000490078.1 |
| exon_skip_514384 | X | 23886772:23886805:23892519:23892574:23897031:23897151 | 23892519:23892574 | ENSG00000184831.9 | ENST00000379226.4,ENST00000439528.1 |
| exon_skip_514389 | X | 23897031:23897151:23898961:23899069:23925810:23926020 | 23898961:23899069 | ENSG00000184831.9 | ENST00000379220.3,ENST00000490078.1 |
| 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 APOO |
| 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 |
| ENST00000379226 | 23858429 | 23858494 | 5CDS-5UTR |
| ENST00000379226 | 23876758 | 23876850 | Frame-shift |
| ENST00000379226 | 23892519 | 23892574 | Frame-shift |
| ENST00000379226 | 23874418 | 23874499 | In-frame |
| ENST00000379226 | 23886709 | 23886805 | 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 |
| ENST00000379226 | 23858429 | 23858494 | 5CDS-5UTR |
| ENST00000379226 | 23892519 | 23892574 | Frame-shift |
| ENST00000379226 | 23874418 | 23874499 | In-frame |
| ENST00000379226 | 23886709 | 23886805 | In-frame |
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Infer the effects of exon skipping event on protein functional features for APOO |
| 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 |
| ENST00000379226 | 1135 | 198 | 23886709 | 23886805 | 525 | 620 | 97 | 129 |
| ENST00000379226 | 1135 | 198 | 23874418 | 23874499 | 713 | 793 | 160 | 187 |
| 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 |
| ENST00000379226 | 1135 | 198 | 23886709 | 23886805 | 525 | 620 | 97 | 129 |
| ENST00000379226 | 1135 | 198 | 23874418 | 23874499 | 713 | 793 | 160 | 187 |
| 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 |
| Q9BUR5 | 97 | 129 | 80 | 109 | Alternative sequence | ID=VSP_023333;Note=In isoform 2. ETYSQTKPKMQSLVQWGLDSYDYLQNAPPG->TAMTISKMHLLD;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q9BUR5 | 97 | 129 | 26 | 198 | Chain | ID=PRO_0000254646;Note=MICOS complex subunit MIC26 |
| Q9BUR5 | 97 | 129 | 108 | 128 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BUR5 | 160 | 187 | 26 | 198 | Chain | ID=PRO_0000254646;Note=MICOS complex subunit MIC26 |
| Q9BUR5 | 160 | 187 | 162 | 162 | Glycosylation | Note=O-linked (Xyl...) (chondroitin sulfate) serine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9BUR5 | 97 | 129 | 80 | 109 | Alternative sequence | ID=VSP_023333;Note=In isoform 2. ETYSQTKPKMQSLVQWGLDSYDYLQNAPPG->TAMTISKMHLLD;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q9BUR5 | 97 | 129 | 26 | 198 | Chain | ID=PRO_0000254646;Note=MICOS complex subunit MIC26 |
| Q9BUR5 | 97 | 129 | 108 | 128 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BUR5 | 160 | 187 | 26 | 198 | Chain | ID=PRO_0000254646;Note=MICOS complex subunit MIC26 |
| Q9BUR5 | 160 | 187 | 162 | 162 | Glycosylation | Note=O-linked (Xyl...) (chondroitin sulfate) serine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for APOO |
| - 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-DD-A3A0-01 | exon_skip_514380 exon_skip_514381 | 23886710 | 23886805 | 23886765 | 23886765 | Frame_Shift_Del | A | - | p.F111fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_514380 exon_skip_514381 | 23886710 | 23886805 | 23886784 | 23886784 | Frame_Shift_Del | T | - | p.N105fs |
| HNSC | TCGA-BA-A6DF-01 | exon_skip_514389 | 23898962 | 23899069 | 23898999 | 23898999 | Frame_Shift_Del | T | - | p.K27fs |
| LUAD | TCGA-L9-A443-01 | exon_skip_514376 | 23876759 | 23876850 | 23876836 | 23876836 | Nonsense_Mutation | T | A | p.K135* |
| - 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 |
| 253J_URINARY_TRACT | 23886710 | 23886805 | 23886790 | 23886790 | Missense_Mutation | A | G | p.L103P |
| 253JBV_URINARY_TRACT | 23886710 | 23886805 | 23886790 | 23886790 | Missense_Mutation | A | G | p.L103P |
| CAL78_BONE | 23892520 | 23892574 | 23892529 | 23892529 | Missense_Mutation | A | C | p.W95G |
| OVCAR8_OVARY | 23898962 | 23899069 | 23898991 | 23898991 | Missense_Mutation | G | A | p.P30S |
| CHLA99_BONE | 23898962 | 23899069 | 23899017 | 23899017 | Missense_Mutation | A | C | p.V21G |
| NCIH1155_LUNG | 23876759 | 23876850 | 23876761 | 23876761 | Nonsense_Mutation | G | A | p.Q160* |
| EN_ENDOMETRIUM | 23898962 | 23899069 | 23899068 | 23899068 | Splice_Site | A | G | p.V4A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for APOO |
| 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 APOO |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for APOO |
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RelatedDrugs for APOO |
| 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 APOO |
| 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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