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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 ABCA5 |
 Gene summary |
| Gene information | Gene symbol | ABCA5 | Gene ID | 23461 |
| Gene name | ATP binding cassette subfamily A member 5 | |
| Synonyms | ABC13|EST90625 | |
| Cytomap | 17q24.3 | |
| Type of gene | protein-coding | |
| Description | ATP-binding cassette sub-family A member 5ATP-binding cassette A5ATP-binding cassette, sub-family A (ABC1), member 5 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8WWZ7 | |
| Context | PubMed: ABCA5 [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 ABCA5 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 ABCA5 |
| 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 ABCA5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_292903 | 17 | 67243516:67243785:67244402:67244458:67246045:67246125 | 67244402:67244458 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000591234.1,ENST00000586995.1,ENST00000588877.1 |
| exon_skip_292904 | 17 | 67246612:67246762:67247887:67248007:67249713:67249808 | 67247887:67248007 | ENSG00000154265.11 | ENST00000392676.3,ENST00000586811.1,ENST00000392677.2,ENST00000591234.1,ENST00000588877.1 |
| exon_skip_292909 | 17 | 67247887:67248007:67249713:67249808:67249934:67250010 | 67249713:67249808 | ENSG00000154265.11 | ENST00000392676.3,ENST00000586811.1,ENST00000392677.2,ENST00000591234.1,ENST00000588877.1 |
| exon_skip_292912 | 17 | 67251683:67251775:67251873:67251991:67252297:67252424 | 67251873:67251991 | ENSG00000154265.11 | ENST00000392676.3,ENST00000586811.1,ENST00000392677.2,ENST00000591234.1,ENST00000586995.1,ENST00000588877.1 |
| exon_skip_292917 | 17 | 67260875:67261046:67264083:67264197:67266753:67266891 | 67264083:67264197 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000591234.1,ENST00000586995.1,ENST00000588877.1 |
| exon_skip_292918 | 17 | 67270111:67270269:67273781:67273983:67280093:67280213 | 67273781:67273983 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000591234.1,ENST00000593153.1,ENST00000586995.1,ENST00000588877.1 |
| exon_skip_292919 | 17 | 67273781:67273983:67280093:67280213:67282038:67282178 | 67280093:67280213 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000593153.1,ENST00000588877.1 |
| exon_skip_292920 | 17 | 67280093:67280213:67281528:67281561:67282038:67282178 | 67281528:67281561 | ENSG00000154265.11 | ENST00000591234.1,ENST00000586995.1 |
| exon_skip_292921 | 17 | 67285317:67285437:67286002:67286178:67287356:67287467 | 67286002:67286178 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000593153.1,ENST00000586995.1,ENST00000588877.1 |
| exon_skip_292923 | 17 | 67300809:67300951:67302865:67303095:67304420:67304509 | 67302865:67303095 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000593153.1,ENST00000588877.1,ENST00000589975.1 |
| exon_skip_292926 | 17 | 67310454:67310571:67313845:67313964:67321839:67321958 | 67313845:67313964 | ENSG00000154265.11 | ENST00000588665.1 |
| exon_skip_292929 | 17 | 67310454:67310571:67321839:67321958:67323192:67323231 | 67321839:67321958 | ENSG00000154265.11 | ENST00000593153.1 |
| exon_skip_292931 | 17 | 67313845:67313964:67321839:67321958:67323192:67323231 | 67321839:67321958 | ENSG00000154265.11 | ENST00000589609.1,ENST00000588665.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ABCA5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_292903 | 17 | 67243516:67243785:67244402:67244458:67246045:67246125 | 67244402:67244458 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000588877.1,ENST00000591234.1,ENST00000586995.1 |
| exon_skip_292904 | 17 | 67246612:67246762:67247887:67248007:67249713:67249808 | 67247887:67248007 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000588877.1,ENST00000591234.1,ENST00000586811.1 |
| exon_skip_292909 | 17 | 67247887:67248007:67249713:67249808:67249934:67250010 | 67249713:67249808 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000588877.1,ENST00000591234.1,ENST00000586811.1 |
| exon_skip_292912 | 17 | 67251683:67251775:67251873:67251991:67252297:67252424 | 67251873:67251991 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000588877.1,ENST00000591234.1,ENST00000586995.1,ENST00000586811.1 |
| exon_skip_292917 | 17 | 67260875:67261046:67264083:67264197:67266753:67266891 | 67264083:67264197 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000588877.1,ENST00000591234.1,ENST00000586995.1 |
| exon_skip_292918 | 17 | 67270111:67270269:67273781:67273983:67280093:67280213 | 67273781:67273983 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000588877.1,ENST00000591234.1,ENST00000586995.1,ENST00000593153.1 |
| exon_skip_292919 | 17 | 67273781:67273983:67280093:67280213:67282038:67282178 | 67280093:67280213 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000588877.1,ENST00000593153.1 |
| exon_skip_292920 | 17 | 67280093:67280213:67281528:67281561:67282038:67282178 | 67281528:67281561 | ENSG00000154265.11 | ENST00000591234.1,ENST00000586995.1 |
| exon_skip_292921 | 17 | 67285317:67285437:67286002:67286178:67287356:67287467 | 67286002:67286178 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000588877.1,ENST00000586995.1,ENST00000593153.1 |
| exon_skip_292923 | 17 | 67300809:67300951:67302865:67303095:67304420:67304509 | 67302865:67303095 | ENSG00000154265.11 | ENST00000392676.3,ENST00000392677.2,ENST00000588877.1,ENST00000593153.1,ENST00000589975.1 |
| exon_skip_292926 | 17 | 67310454:67310571:67313845:67313964:67321839:67321958 | 67313845:67313964 | ENSG00000154265.11 | ENST00000588665.1 |
| exon_skip_292929 | 17 | 67310454:67310571:67321839:67321958:67323192:67323231 | 67321839:67321958 | ENSG00000154265.11 | ENST00000593153.1 |
| exon_skip_292931 | 17 | 67313845:67313964:67321839:67321958:67323192:67323231 | 67321839:67321958 | ENSG00000154265.11 | ENST00000588665.1,ENST00000589609.1 |
| 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 ABCA5 |
| 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 |
| ENST00000392676 | 67244402 | 67244458 | Frame-shift |
| ENST00000588877 | 67244402 | 67244458 | Frame-shift |
| ENST00000392676 | 67249713 | 67249808 | Frame-shift |
| ENST00000588877 | 67249713 | 67249808 | Frame-shift |
| ENST00000392676 | 67251873 | 67251991 | Frame-shift |
| ENST00000588877 | 67251873 | 67251991 | Frame-shift |
| ENST00000392676 | 67273781 | 67273983 | Frame-shift |
| ENST00000588877 | 67273781 | 67273983 | Frame-shift |
| ENST00000392676 | 67286002 | 67286178 | Frame-shift |
| ENST00000588877 | 67286002 | 67286178 | Frame-shift |
| ENST00000392676 | 67302865 | 67303095 | Frame-shift |
| ENST00000588877 | 67302865 | 67303095 | Frame-shift |
| ENST00000392676 | 67247887 | 67248007 | In-frame |
| ENST00000588877 | 67247887 | 67248007 | In-frame |
| ENST00000392676 | 67264083 | 67264197 | In-frame |
| ENST00000588877 | 67264083 | 67264197 | In-frame |
| ENST00000392676 | 67280093 | 67280213 | In-frame |
| ENST00000588877 | 67280093 | 67280213 | 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 |
| ENST00000392676 | 67244402 | 67244458 | Frame-shift |
| ENST00000588877 | 67244402 | 67244458 | Frame-shift |
| ENST00000392676 | 67249713 | 67249808 | Frame-shift |
| ENST00000588877 | 67249713 | 67249808 | Frame-shift |
| ENST00000392676 | 67251873 | 67251991 | Frame-shift |
| ENST00000588877 | 67251873 | 67251991 | Frame-shift |
| ENST00000392676 | 67273781 | 67273983 | Frame-shift |
| ENST00000588877 | 67273781 | 67273983 | Frame-shift |
| ENST00000392676 | 67286002 | 67286178 | Frame-shift |
| ENST00000588877 | 67286002 | 67286178 | Frame-shift |
| ENST00000392676 | 67302865 | 67303095 | Frame-shift |
| ENST00000588877 | 67302865 | 67303095 | Frame-shift |
| ENST00000392676 | 67247887 | 67248007 | In-frame |
| ENST00000588877 | 67247887 | 67248007 | In-frame |
| ENST00000392676 | 67264083 | 67264197 | In-frame |
| ENST00000588877 | 67264083 | 67264197 | In-frame |
| ENST00000392676 | 67280093 | 67280213 | In-frame |
| ENST00000588877 | 67280093 | 67280213 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ABCA5 |
| 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 |
| ENST00000392676 | 8237 | 1642 | 67280093 | 67280213 | 2338 | 2457 | 757 | 797 |
| ENST00000588877 | 6542 | 1642 | 67280093 | 67280213 | 3283 | 3402 | 757 | 797 |
| ENST00000392676 | 8237 | 1642 | 67264083 | 67264197 | 3096 | 3209 | 1010 | 1048 |
| ENST00000588877 | 6542 | 1642 | 67264083 | 67264197 | 4041 | 4154 | 1010 | 1048 |
| ENST00000392676 | 8237 | 1642 | 67247887 | 67248007 | 4481 | 4600 | 1472 | 1511 |
| ENST00000588877 | 6542 | 1642 | 67247887 | 67248007 | 5426 | 5545 | 1472 | 1511 |
| 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 |
| ENST00000392676 | 8237 | 1642 | 67280093 | 67280213 | 2338 | 2457 | 757 | 797 |
| ENST00000588877 | 6542 | 1642 | 67280093 | 67280213 | 3283 | 3402 | 757 | 797 |
| ENST00000392676 | 8237 | 1642 | 67264083 | 67264197 | 3096 | 3209 | 1010 | 1048 |
| ENST00000588877 | 6542 | 1642 | 67264083 | 67264197 | 4041 | 4154 | 1010 | 1048 |
| ENST00000392676 | 8237 | 1642 | 67247887 | 67248007 | 4481 | 4600 | 1472 | 1511 |
| ENST00000588877 | 6542 | 1642 | 67247887 | 67248007 | 5426 | 5545 | 1472 | 1511 |
| 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 |
| Q8WWZ7 | 757 | 797 | 1 | 777 | Alternative sequence | ID=VSP_020690;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WWZ7 | 757 | 797 | 1 | 777 | Alternative sequence | ID=VSP_020690;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WWZ7 | 757 | 797 | 1 | 1642 | Chain | ID=PRO_0000250669;Note=ATP-binding cassette sub-family A member 5 |
| Q8WWZ7 | 757 | 797 | 1 | 1642 | Chain | ID=PRO_0000250669;Note=ATP-binding cassette sub-family A member 5 |
| Q8WWZ7 | 1010 | 1048 | 926 | 1642 | Alternative sequence | ID=VSP_020692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12504089;Dbxref=PMID:12504089 |
| Q8WWZ7 | 1010 | 1048 | 926 | 1642 | Alternative sequence | ID=VSP_020692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12504089;Dbxref=PMID:12504089 |
| Q8WWZ7 | 1010 | 1048 | 1 | 1642 | Chain | ID=PRO_0000250669;Note=ATP-binding cassette sub-family A member 5 |
| Q8WWZ7 | 1010 | 1048 | 1 | 1642 | Chain | ID=PRO_0000250669;Note=ATP-binding cassette sub-family A member 5 |
| Q8WWZ7 | 1010 | 1048 | 1021 | 1041 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WWZ7 | 1010 | 1048 | 1021 | 1041 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WWZ7 | 1472 | 1511 | 926 | 1642 | Alternative sequence | ID=VSP_020692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12504089;Dbxref=PMID:12504089 |
| Q8WWZ7 | 1472 | 1511 | 926 | 1642 | Alternative sequence | ID=VSP_020692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12504089;Dbxref=PMID:12504089 |
| Q8WWZ7 | 1472 | 1511 | 1 | 1642 | Chain | ID=PRO_0000250669;Note=ATP-binding cassette sub-family A member 5 |
| Q8WWZ7 | 1472 | 1511 | 1 | 1642 | Chain | ID=PRO_0000250669;Note=ATP-binding cassette sub-family A member 5 |
| Q8WWZ7 | 1472 | 1511 | 1290 | 1533 | Domain | Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 |
| Q8WWZ7 | 1472 | 1511 | 1290 | 1533 | Domain | Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 |
| 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 |
| Q8WWZ7 | 757 | 797 | 1 | 777 | Alternative sequence | ID=VSP_020690;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WWZ7 | 757 | 797 | 1 | 777 | Alternative sequence | ID=VSP_020690;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WWZ7 | 757 | 797 | 1 | 1642 | Chain | ID=PRO_0000250669;Note=ATP-binding cassette sub-family A member 5 |
| Q8WWZ7 | 757 | 797 | 1 | 1642 | Chain | ID=PRO_0000250669;Note=ATP-binding cassette sub-family A member 5 |
| Q8WWZ7 | 1010 | 1048 | 926 | 1642 | Alternative sequence | ID=VSP_020692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12504089;Dbxref=PMID:12504089 |
| Q8WWZ7 | 1010 | 1048 | 926 | 1642 | Alternative sequence | ID=VSP_020692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12504089;Dbxref=PMID:12504089 |
| Q8WWZ7 | 1010 | 1048 | 1 | 1642 | Chain | ID=PRO_0000250669;Note=ATP-binding cassette sub-family A member 5 |
| Q8WWZ7 | 1010 | 1048 | 1 | 1642 | Chain | ID=PRO_0000250669;Note=ATP-binding cassette sub-family A member 5 |
| Q8WWZ7 | 1010 | 1048 | 1021 | 1041 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WWZ7 | 1010 | 1048 | 1021 | 1041 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WWZ7 | 1472 | 1511 | 926 | 1642 | Alternative sequence | ID=VSP_020692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12504089;Dbxref=PMID:12504089 |
| Q8WWZ7 | 1472 | 1511 | 926 | 1642 | Alternative sequence | ID=VSP_020692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12504089;Dbxref=PMID:12504089 |
| Q8WWZ7 | 1472 | 1511 | 1 | 1642 | Chain | ID=PRO_0000250669;Note=ATP-binding cassette sub-family A member 5 |
| Q8WWZ7 | 1472 | 1511 | 1 | 1642 | Chain | ID=PRO_0000250669;Note=ATP-binding cassette sub-family A member 5 |
| Q8WWZ7 | 1472 | 1511 | 1290 | 1533 | Domain | Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 |
| Q8WWZ7 | 1472 | 1511 | 1290 | 1533 | Domain | Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 |
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SNVs in the skipped exons for ABCA5 |
| - 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_292903 | 67244403 | 67244458 | 67244445 | 67244445 | Frame_Shift_Del | A | - | p.F1593fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_292912 | 67251874 | 67251991 | 67251935 | 67251935 | Frame_Shift_Del | A | - | p.F1305fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_292912 | 67251874 | 67251991 | 67251935 | 67251935 | Frame_Shift_Del | A | - | p.F1305fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_292912 | 67251874 | 67251991 | 67251959 | 67251959 | Frame_Shift_Del | T | - | p.K1297fs |
| KIRP | TCGA-SX-A7SQ-01 | exon_skip_292921 | 67286003 | 67286178 | 67286078 | 67286078 | Frame_Shift_Del | A | - | p.V570fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_292921 | 67286003 | 67286178 | 67286116 | 67286116 | Frame_Shift_Del | T | - | p.M557fs |
| LGG | TCGA-HT-8564-01 | exon_skip_292923 | 67302866 | 67303095 | 67302912 | 67302912 | Frame_Shift_Del | T | - | p.I248fs |
| LUAD | TCGA-05-4424-01 | exon_skip_292923 | 67302866 | 67303095 | 67303002 | 67303002 | Frame_Shift_Del | G | - | p.R218fs |
| ACC | TCGA-OR-A5JI-01 | exon_skip_292923 | 67302866 | 67303095 | 67302911 | 67302912 | Frame_Shift_Ins | - | T | p.K248fs |
| PAAD | TCGA-HZ-8315-01 | exon_skip_292923 | 67302866 | 67303095 | 67302911 | 67302912 | Frame_Shift_Ins | - | T | p.K248fs |
| PAAD | TCGA-HZ-A8P1-01 | exon_skip_292923 | 67302866 | 67303095 | 67302911 | 67302912 | Frame_Shift_Ins | - | T | p.K248fs |
| SARC | TCGA-3B-A9HL-01 | exon_skip_292923 | 67302866 | 67303095 | 67302911 | 67302912 | Frame_Shift_Ins | - | T | p.K248fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_292923 | 67302866 | 67303095 | 67302921 | 67302922 | Frame_Shift_Ins | - | T | p.KK244fs |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_292912 | 67251874 | 67251991 | 67251958 | 67251958 | Nonsense_Mutation | C | A | p.E1298* |
| STAD | TCGA-CD-A4MH-01 | exon_skip_292918 | 67273782 | 67273983 | 67273963 | 67273963 | Nonsense_Mutation | G | A | p.Q805* |
| KIRC | TCGA-EU-5907-01 | exon_skip_292919 | 67280094 | 67280213 | 67280186 | 67280186 | Nonsense_Mutation | G | C | p.S767* |
| KIRC | TCGA-EU-5907-01 | exon_skip_292919 | 67280094 | 67280213 | 67280186 | 67280186 | Nonsense_Mutation | G | C | p.S767X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_292923 | 67302866 | 67303095 | 67302906 | 67302906 | Nonsense_Mutation | C | A | p.E250* |
| STAD | TCGA-BR-8368-01 | exon_skip_292923 | 67302866 | 67303095 | 67303002 | 67303002 | Nonsense_Mutation | G | A | p.R218* |
| STAD | TCGA-BR-8368-01 | exon_skip_292923 | 67302866 | 67303095 | 67303002 | 67303002 | Nonsense_Mutation | G | A | p.R218X |
| - 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 |
| MDAMB134VI_BREAST | 67244403 | 67244458 | 67244441 | 67244441 | Missense_Mutation | T | C | p.I1595V |
| VMCUB1_URINARY_TRACT | 67247888 | 67248007 | 67247892 | 67247892 | Missense_Mutation | A | T | p.L1511I |
| EN_ENDOMETRIUM | 67247888 | 67248007 | 67247946 | 67247946 | Missense_Mutation | T | C | p.M1493V |
| HEC251_ENDOMETRIUM | 67247888 | 67248007 | 67247996 | 67247996 | Missense_Mutation | C | T | p.R1476Q |
| HCC2998_LARGE_INTESTINE | 67247888 | 67248007 | 67247996 | 67247996 | Missense_Mutation | C | T | p.R1476Q |
| NCIH647_LUNG | 67249714 | 67249808 | 67249742 | 67249742 | Missense_Mutation | T | A | p.M1463L |
| 253J_URINARY_TRACT | 67249714 | 67249808 | 67249792 | 67249792 | Missense_Mutation | C | T | p.S1446N |
| 253JBV_URINARY_TRACT | 67249714 | 67249808 | 67249792 | 67249792 | Missense_Mutation | C | T | p.S1446N |
| SNU1040_LARGE_INTESTINE | 67251874 | 67251991 | 67251885 | 67251885 | Missense_Mutation | C | T | p.C1322Y |
| HT55_LARGE_INTESTINE | 67264084 | 67264197 | 67264106 | 67264106 | Missense_Mutation | A | T | p.M1041K |
| NCIH23_LUNG | 67273782 | 67273983 | 67273803 | 67273803 | Missense_Mutation | T | C | p.E858G |
| HEC59_ENDOMETRIUM | 67273782 | 67273983 | 67273806 | 67273806 | Missense_Mutation | C | T | p.R857H |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67273782 | 67273983 | 67273903 | 67273903 | Missense_Mutation | T | C | p.I825V |
| 8MGBA_CENTRAL_NERVOUS_SYSTEM | 67273782 | 67273983 | 67273941 | 67273941 | Missense_Mutation | T | C | p.D812G |
| RCCFG2_KIDNEY | 67280094 | 67280213 | 67280136 | 67280136 | Missense_Mutation | C | T | p.V784I |
| CAL12T_LUNG | 67280094 | 67280213 | 67280143 | 67280143 | Missense_Mutation | C | A | p.L781F |
| NCIH1792_LUNG | 67280094 | 67280213 | 67280192 | 67280192 | Missense_Mutation | C | T | p.S765N |
| OVK18_OVARY | 67286003 | 67286178 | 67286044 | 67286044 | Missense_Mutation | C | T | p.A581T |
| HEC251_ENDOMETRIUM | 67286003 | 67286178 | 67286060 | 67286060 | Missense_Mutation | T | A | p.E575D |
| TE10_OESOPHAGUS | 67286003 | 67286178 | 67286117 | 67286117 | Missense_Mutation | T | A | p.K556N |
| NCIH510_LUNG | 67302866 | 67303095 | 67302882 | 67302882 | Missense_Mutation | G | A | p.H258Y |
| 127399_SOFT_TISSUE | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| BT12_SOFT_TISSUE | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| CHLA218_BONE | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| COLO699_LUNG | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| HCC2450_LUNG | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| HKA1_SKIN | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| LN428_CENTRAL_NERVOUS_SYSTEM | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| LN464_CENTRAL_NERVOUS_SYSTEM | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| MERO95_LUNG | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| MON_SOFT_TISSUE | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| OACM51_OESOPHAGUS | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| RH36_SOFT_TISSUE | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| TM87_SOFT_TISSUE | 67302866 | 67303095 | 67302921 | 67302921 | Missense_Mutation | C | T | p.E245K |
| CHLA218_BONE | 67302866 | 67303095 | 67302927 | 67302927 | Missense_Mutation | C | T | p.E243K |
| HCC2450_LUNG | 67302866 | 67303095 | 67302927 | 67302927 | Missense_Mutation | C | T | p.E243K |
| MON_SOFT_TISSUE | 67302866 | 67303095 | 67302927 | 67302927 | Missense_Mutation | C | T | p.E243K |
| GP2D_LARGE_INTESTINE | 67302866 | 67303095 | 67302980 | 67302980 | Missense_Mutation | A | T | p.L225Q |
| GP5D_LARGE_INTESTINE | 67302866 | 67303095 | 67302980 | 67302980 | Missense_Mutation | A | T | p.L225Q |
| KYAE1_OESOPHAGUS | 67302866 | 67303095 | 67303035 | 67303035 | Missense_Mutation | C | T | p.E207K |
| HEC6_ENDOMETRIUM | 67302866 | 67303095 | 67303046 | 67303046 | Missense_Mutation | A | G | p.V203A |
| NCIH510_LUNG | 67302866 | 67303095 | 67303050 | 67303050 | Missense_Mutation | C | A | p.A202S |
| JHUEM7_ENDOMETRIUM | 67273782 | 67273983 | 67273948 | 67273948 | Nonsense_Mutation | C | A | p.E810* |
| JHUEM7_ENDOMETRIUM | 67302866 | 67303095 | 67302906 | 67302906 | Nonsense_Mutation | C | A | p.E250* |
| SNU81_LARGE_INTESTINE | 67302866 | 67303095 | 67302906 | 67302906 | Nonsense_Mutation | C | A | p.E250* |
| HEC59_ENDOMETRIUM | 67251874 | 67251991 | 67251874 | 67251875 | Splice_Site | - | T | p.G1326fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABCA5 |
| 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 |
| exon_skip_292918 | 17 | 67270111:67270269:67273781:67273983:67280093:67280213 | 67273781:67273983 | ENST00000392676.3,ENST00000392677.2,ENST00000591234.1,ENST00000593153.1,ENST00000586995.1,ENST00000588877.1 | PRAD | rs536009 | chr17:67273882 | C/A | 8.83e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABCA5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABCA5 |
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RelatedDrugs for ABCA5 |
| 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 ABCA5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ABCA5 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
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