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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 ABCA10 |
 Gene summary |
| Gene information | Gene symbol | ABCA10 | Gene ID | 10349 |
| Gene name | ATP binding cassette subfamily A member 10 | |
| Synonyms | EST698739 | |
| Cytomap | 17q24.3 | |
| Type of gene | protein-coding | |
| Description | ATP-binding cassette sub-family A member 10ATP-binding cassette A10ATP-binding cassette, sub-family A (ABC1), member 10 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8WWZ4 | |
| Context | PubMed: ABCA10 [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 ABCA10 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 ABCA10 |
| 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 ABCA10 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_292877 | 17 | 67149445:67149540:67149611:67149687:67149971:67150150 | 67149611:67149687 | ENSG00000154263.13 | ENST00000519732.1,ENST00000269081.4,ENST00000416101.2,ENST00000522406.1 |
| exon_skip_292882 | 17 | 67161104:67161224:67170421:67170535:67170747:67170918 | 67170421:67170535 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000518929.1,ENST00000523419.1,ENST00000522406.1 |
| exon_skip_292883 | 17 | 67161104:67161224:67170421:67170535:67171546:67171654 | 67170421:67170535 | ENSG00000154263.13 | ENST00000519732.1 |
| exon_skip_292888 | 17 | 67170421:67170535:67170747:67170918:67171546:67171654 | 67170747:67170918 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000518929.1,ENST00000523419.1,ENST00000522406.1 |
| exon_skip_292889 | 17 | 67171546:67171654:67175060:67175149:67178293:67178431 | 67175060:67175149 | ENSG00000154263.13 | ENST00000522406.1 |
| exon_skip_292890 | 17 | 67178815:67178949:67181617:67181784:67183821:67184020 | 67181617:67181784 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000518929.1,ENST00000523419.1,ENST00000522406.1 |
| exon_skip_292891 | 17 | 67186498:67186618:67187316:67187456:67188703:67188794 | 67187316:67187456 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000518929.1,ENST00000523419.1,ENST00000522406.1 |
| exon_skip_292892 | 17 | 67189633:67189753:67189954:67190130:67190525:67190636 | 67189954:67190130 | ENSG00000154263.13 | ENST00000269081.4,ENST00000518929.1,ENST00000523419.1,ENST00000522406.1 |
| exon_skip_292894 | 17 | 67190525:67190636:67192386:67192624:67193204:67193263 | 67192386:67192624 | ENSG00000154263.13 | ENST00000518929.1 |
| exon_skip_292895 | 17 | 67190525:67190636:67192426:67192624:67193204:67193263 | 67192426:67192624 | ENSG00000154263.13 | ENST00000522406.1 |
| exon_skip_292897 | 17 | 67193204:67193263:67197640:67197809:67210844:67210992 | 67197640:67197809 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000432313.2,ENST00000523419.1,ENST00000522406.1 |
| exon_skip_292898 | 17 | 67211955:67212141:67212357:67212499:67215685:67215912 | 67212357:67212499 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000523512.1,ENST00000518929.1,ENST00000432313.2,ENST00000523419.1,ENST00000522406.1 |
| exon_skip_292899 | 17 | 67215832:67215912:67217932:67218036:67218673:67218754 | 67217932:67218036 | ENSG00000154263.13 | ENST00000524273.1,ENST00000269081.4,ENST00000416101.2,ENST00000518929.1,ENST00000432313.2,ENST00000523419.1,ENST00000522406.1 |
| exon_skip_292900 | 17 | 67218818:67218838:67219768:67219850:67221465:67221583 | 67219768:67219850 | ENSG00000154263.13 | ENST00000521526.2 |
| exon_skip_292902 | 17 | 67218818:67218838:67221465:67221670:67223285:67223426 | 67221465:67221670 | ENSG00000154263.13 | ENST00000423818.2,ENST00000269081.4,ENST00000416101.2,ENST00000523512.1,ENST00000432313.2,ENST00000522406.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ABCA10 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_292877 | 17 | 67149445:67149540:67149611:67149687:67149971:67150150 | 67149611:67149687 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000522406.1,ENST00000519732.1 |
| exon_skip_292882 | 17 | 67161104:67161224:67170421:67170535:67170747:67170918 | 67170421:67170535 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000522406.1,ENST00000518929.1,ENST00000523419.1 |
| exon_skip_292883 | 17 | 67161104:67161224:67170421:67170535:67171546:67171654 | 67170421:67170535 | ENSG00000154263.13 | ENST00000519732.1 |
| exon_skip_292888 | 17 | 67170421:67170535:67170747:67170918:67171546:67171654 | 67170747:67170918 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000522406.1,ENST00000518929.1,ENST00000523419.1 |
| exon_skip_292889 | 17 | 67171546:67171654:67175060:67175149:67178293:67178431 | 67175060:67175149 | ENSG00000154263.13 | ENST00000522406.1 |
| exon_skip_292890 | 17 | 67178815:67178949:67181617:67181784:67183821:67184020 | 67181617:67181784 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000522406.1,ENST00000518929.1,ENST00000523419.1 |
| exon_skip_292891 | 17 | 67186498:67186618:67187316:67187456:67188703:67188794 | 67187316:67187456 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000522406.1,ENST00000518929.1,ENST00000523419.1 |
| exon_skip_292892 | 17 | 67189633:67189753:67189954:67190130:67190525:67190636 | 67189954:67190130 | ENSG00000154263.13 | ENST00000269081.4,ENST00000522406.1,ENST00000518929.1,ENST00000523419.1 |
| exon_skip_292894 | 17 | 67190525:67190636:67192386:67192624:67193204:67193263 | 67192386:67192624 | ENSG00000154263.13 | ENST00000518929.1 |
| exon_skip_292895 | 17 | 67190525:67190636:67192426:67192624:67193204:67193263 | 67192426:67192624 | ENSG00000154263.13 | ENST00000522406.1 |
| exon_skip_292897 | 17 | 67193204:67193263:67197640:67197809:67210844:67210992 | 67197640:67197809 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000522406.1,ENST00000523419.1,ENST00000432313.2 |
| exon_skip_292898 | 17 | 67211955:67212141:67212357:67212499:67215685:67215912 | 67212357:67212499 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000522406.1,ENST00000518929.1,ENST00000523419.1,ENST00000432313.2,ENST00000523512.1 |
| exon_skip_292899 | 17 | 67215832:67215912:67217932:67218036:67218673:67218754 | 67217932:67218036 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000522406.1,ENST00000518929.1,ENST00000523419.1,ENST00000432313.2,ENST00000524273.1 |
| exon_skip_292900 | 17 | 67218818:67218838:67219768:67219850:67221465:67221583 | 67219768:67219850 | ENSG00000154263.13 | ENST00000521526.2 |
| exon_skip_292902 | 17 | 67218818:67218838:67221465:67221670:67223285:67223426 | 67221465:67221670 | ENSG00000154263.13 | ENST00000269081.4,ENST00000416101.2,ENST00000522406.1,ENST00000432313.2,ENST00000523512.1,ENST00000423818.2 |
| 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 ABCA10 |
| 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 |
| ENST00000269081 | 67221465 | 67221670 | 3UTR-3CDS |
| ENST00000269081 | 67149611 | 67149687 | Frame-shift |
| ENST00000269081 | 67181617 | 67181784 | Frame-shift |
| ENST00000269081 | 67187316 | 67187456 | Frame-shift |
| ENST00000269081 | 67189954 | 67190130 | Frame-shift |
| ENST00000269081 | 67197640 | 67197809 | Frame-shift |
| ENST00000269081 | 67212357 | 67212499 | Frame-shift |
| ENST00000269081 | 67217932 | 67218036 | Frame-shift |
| ENST00000269081 | 67170421 | 67170535 | In-frame |
| ENST00000269081 | 67170747 | 67170918 | 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 |
| ENST00000269081 | 67221465 | 67221670 | 3UTR-3CDS |
| ENST00000269081 | 67149611 | 67149687 | Frame-shift |
| ENST00000269081 | 67181617 | 67181784 | Frame-shift |
| ENST00000269081 | 67187316 | 67187456 | Frame-shift |
| ENST00000269081 | 67189954 | 67190130 | Frame-shift |
| ENST00000269081 | 67197640 | 67197809 | Frame-shift |
| ENST00000269081 | 67212357 | 67212499 | Frame-shift |
| ENST00000269081 | 67217932 | 67218036 | Frame-shift |
| ENST00000269081 | 67170421 | 67170535 | In-frame |
| ENST00000269081 | 67170747 | 67170918 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ABCA10 |
| 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 |
| ENST00000269081 | 6379 | 1543 | 67170747 | 67170918 | 3788 | 3958 | 959 | 1016 |
| ENST00000269081 | 6379 | 1543 | 67170421 | 67170535 | 3959 | 4072 | 1016 | 1054 |
| 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 |
| ENST00000269081 | 6379 | 1543 | 67170747 | 67170918 | 3788 | 3958 | 959 | 1016 |
| ENST00000269081 | 6379 | 1543 | 67170421 | 67170535 | 3959 | 4072 | 1016 | 1054 |
| 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 |
| Q8WWZ4 | 959 | 1016 | 68 | 1543 | Alternative sequence | ID=VSP_021063;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8WWZ4 | 959 | 1016 | 451 | 1543 | Alternative sequence | ID=VSP_021066;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8WWZ4 | 959 | 1016 | 453 | 1543 | Alternative sequence | ID=VSP_021067;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q8WWZ4 | 959 | 1016 | 1 | 1543 | Chain | ID=PRO_0000253572;Note=ATP-binding cassette sub-family A member 10 |
| Q8WWZ4 | 959 | 1016 | 985 | 1005 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WWZ4 | 959 | 1016 | 1014 | 1034 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WWZ4 | 1016 | 1054 | 68 | 1543 | Alternative sequence | ID=VSP_021063;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8WWZ4 | 1016 | 1054 | 451 | 1543 | Alternative sequence | ID=VSP_021066;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8WWZ4 | 1016 | 1054 | 453 | 1543 | Alternative sequence | ID=VSP_021067;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q8WWZ4 | 1016 | 1054 | 1 | 1543 | Chain | ID=PRO_0000253572;Note=ATP-binding cassette sub-family A member 10 |
| Q8WWZ4 | 1016 | 1054 | 1014 | 1034 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WWZ4 | 1016 | 1054 | 1046 | 1066 | Transmembrane | Note=Helical;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 |
| Q8WWZ4 | 959 | 1016 | 68 | 1543 | Alternative sequence | ID=VSP_021063;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8WWZ4 | 959 | 1016 | 451 | 1543 | Alternative sequence | ID=VSP_021066;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8WWZ4 | 959 | 1016 | 453 | 1543 | Alternative sequence | ID=VSP_021067;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q8WWZ4 | 959 | 1016 | 1 | 1543 | Chain | ID=PRO_0000253572;Note=ATP-binding cassette sub-family A member 10 |
| Q8WWZ4 | 959 | 1016 | 985 | 1005 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WWZ4 | 959 | 1016 | 1014 | 1034 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WWZ4 | 1016 | 1054 | 68 | 1543 | Alternative sequence | ID=VSP_021063;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8WWZ4 | 1016 | 1054 | 451 | 1543 | Alternative sequence | ID=VSP_021066;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8WWZ4 | 1016 | 1054 | 453 | 1543 | Alternative sequence | ID=VSP_021067;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q8WWZ4 | 1016 | 1054 | 1 | 1543 | Chain | ID=PRO_0000253572;Note=ATP-binding cassette sub-family A member 10 |
| Q8WWZ4 | 1016 | 1054 | 1014 | 1034 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8WWZ4 | 1016 | 1054 | 1046 | 1066 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ABCA10 |
| - 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 |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_292882 exon_skip_292883 | 67170422 | 67170535 | 67170425 | 67170425 | Frame_Shift_Del | A | - | p.F1053fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_292882 exon_skip_292883 | 67170422 | 67170535 | 67170425 | 67170425 | Frame_Shift_Del | A | - | p.I1054fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_292882 exon_skip_292883 | 67170422 | 67170535 | 67170425 | 67170425 | Frame_Shift_Del | A | - | p.F1053fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_292882 exon_skip_292883 | 67170422 | 67170535 | 67170425 | 67170425 | Frame_Shift_Del | A | - | p.F1053fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_292888 | 67170748 | 67170918 | 67170804 | 67170804 | Frame_Shift_Del | T | - | p.I998fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_292888 | 67170748 | 67170918 | 67170914 | 67170914 | Frame_Shift_Del | T | - | p.N961fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_292891 | 67187317 | 67187456 | 67187360 | 67187360 | Frame_Shift_Del | T | - | p.K656fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_292891 | 67187317 | 67187456 | 67187422 | 67187422 | Frame_Shift_Del | T | - | p.I636fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_292891 | 67187317 | 67187456 | 67187422 | 67187422 | Frame_Shift_Del | T | - | p.I636fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_292892 | 67189955 | 67190130 | 67190056 | 67190056 | Frame_Shift_Del | A | - | p.C474fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_292897 | 67197641 | 67197809 | 67197759 | 67197759 | Frame_Shift_Del | A | - | p.W353fs |
| STAD | TCGA-CG-5723-01 | exon_skip_292898 | 67212358 | 67212499 | 67212448 | 67212448 | Frame_Shift_Del | A | - | p.M195fs |
| COAD | TCGA-AD-6895-01 | exon_skip_292882 exon_skip_292883 | 67170422 | 67170535 | 67170424 | 67170425 | Frame_Shift_Ins | - | A | p.I1054fs |
| LUAD | TCGA-17-Z055-01 | exon_skip_292888 | 67170748 | 67170918 | 67170783 | 67170783 | Nonsense_Mutation | C | A | p.G1005* |
| STAD | TCGA-BR-7707-01 | exon_skip_292888 | 67170748 | 67170918 | 67170783 | 67170783 | Nonsense_Mutation | C | A | p.G1005* |
| STAD | TCGA-BR-7707-01 | exon_skip_292888 | 67170748 | 67170918 | 67170783 | 67170783 | Nonsense_Mutation | C | A | p.G1005X |
| COAD | TCGA-CA-6717-01 | exon_skip_292890 | 67181618 | 67181784 | 67181744 | 67181744 | Nonsense_Mutation | C | A | p.E791X |
| READ | TCGA-F5-6814-01 | exon_skip_292892 | 67189955 | 67190130 | 67190014 | 67190014 | Nonsense_Mutation | C | A | p.E488X |
| UCEC | TCGA-A5-A0GP-01 | exon_skip_292892 | 67189955 | 67190130 | 67190014 | 67190014 | Nonsense_Mutation | C | A | p.E488* |
| SKCM | TCGA-ER-A19N-06 | exon_skip_292892 | 67189955 | 67190130 | 67190038 | 67190038 | Nonsense_Mutation | G | A | p.Q480* |
| SKCM | TCGA-ER-A19N-06 | exon_skip_292892 | 67189955 | 67190130 | 67190038 | 67190038 | Nonsense_Mutation | G | A | p.Q480X |
| BRCA | TCGA-A2-A25E-01 | exon_skip_292892 | 67189955 | 67190130 | 67190107 | 67190107 | Nonsense_Mutation | G | A | p.Q457* |
| CHOL | TCGA-ZH-A8Y6-01 | exon_skip_292898 | 67212358 | 67212499 | 67212428 | 67212428 | Nonsense_Mutation | G | T | p.S201X |
| GBM | TCGA-28-2502-01 | exon_skip_292898 | 67212358 | 67212499 | 67212489 | 67212489 | Nonsense_Mutation | C | A | p.G181* |
| READ | TCGA-EI-6917-01 | exon_skip_292899 | 67217933 | 67218036 | 67217935 | 67217935 | Nonsense_Mutation | C | A | p.E101X |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_292899 | 67217933 | 67218036 | 67217935 | 67217935 | Nonsense_Mutation | C | A | p.E101* |
| STAD | TCGA-CD-A486-01 | exon_skip_292888 | 67170748 | 67170918 | 67170746 | 67170746 | Splice_Site | A | G | . |
| STAD | TCGA-CD-A486-01 | exon_skip_292888 | 67170748 | 67170918 | 67170746 | 67170746 | Splice_Site | A | G | p.L1016_splice |
| LUSC | TCGA-22-5473-01 | exon_skip_292890 | 67181618 | 67181784 | 67181617 | 67181617 | Splice_Site | C | T | p.G833_splice |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_292897 | 67197641 | 67197809 | 67197811 | 67197811 | Splice_Site | T | G | e8-2 |
| BRCA | TCGA-E2-A1IG-01 | exon_skip_292898 | 67212358 | 67212499 | 67212357 | 67212357 | Splice_Site | C | A | e5+1 |
| - 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 |
| HEC108_ENDOMETRIUM | 67170422 | 67170535 | 67170425 | 67170425 | Frame_Shift_Del | A | - | p.F1053fs |
| MFE319_ENDOMETRIUM | 67170422 | 67170535 | 67170453 | 67170453 | Frame_Shift_Del | T | - | p.N1045fs |
| JHH4_LIVER | 67170422 | 67170535 | 67170452 | 67170453 | Frame_Shift_Ins | - | T | p.N1044fs |
| SNU1040_LARGE_INTESTINE | 67187317 | 67187456 | 67187331 | 67187332 | Frame_Shift_Ins | - | T | p.T666fs |
| JHOS3_OVARY | 67149612 | 67149687 | 67149629 | 67149629 | Missense_Mutation | C | G | p.E1342Q |
| STM9101_SOFT_TISSUE | 67149612 | 67149687 | 67149635 | 67149635 | Missense_Mutation | G | C | p.L1340V |
| OCUBM_BREAST | 67149612 | 67149687 | 67149641 | 67149641 | Missense_Mutation | T | C | p.K1338E |
| HCC1806_BREAST | 67170422 | 67170535 | 67170469 | 67170469 | Missense_Mutation | G | A | p.R1039C |
| 451LU_SKIN | 67170748 | 67170918 | 67170782 | 67170782 | Missense_Mutation | C | A | p.G1005V |
| HEC108_ENDOMETRIUM | 67181618 | 67181784 | 67181632 | 67181632 | Missense_Mutation | A | G | p.I828T |
| SN12C_KIDNEY | 67181618 | 67181784 | 67181657 | 67181657 | Missense_Mutation | T | C | p.K820E |
| CW2_LARGE_INTESTINE | 67181618 | 67181784 | 67181662 | 67181662 | Missense_Mutation | A | G | p.I818T |
| HCC2998_LARGE_INTESTINE | 67187317 | 67187456 | 67187322 | 67187322 | Missense_Mutation | A | C | p.F669C |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67187317 | 67187456 | 67187368 | 67187368 | Missense_Mutation | C | T | p.E654K |
| HCC1954_BREAST | 67187317 | 67187456 | 67187376 | 67187376 | Missense_Mutation | G | A | p.T651I |
| JHU028_LUNG | 67187317 | 67187456 | 67187376 | 67187376 | Missense_Mutation | G | A | p.T651I |
| HCT15_LARGE_INTESTINE | 67187317 | 67187456 | 67187394 | 67187394 | Missense_Mutation | G | T | p.P645H |
| MCF7_BREAST | 67189955 | 67190130 | 67190008 | 67190008 | Missense_Mutation | G | A | p.L490F |
| MKN74_STOMACH | 67197641 | 67197809 | 67197677 | 67197677 | Missense_Mutation | G | A | p.P380L |
| MKN28_STOMACH | 67197641 | 67197809 | 67197677 | 67197677 | Missense_Mutation | G | A | p.P380L |
| BT474_BREAST | 67197641 | 67197809 | 67197742 | 67197742 | Missense_Mutation | A | T | p.N358K |
| HEC251_ENDOMETRIUM | 67197641 | 67197809 | 67197806 | 67197806 | Missense_Mutation | T | G | p.K337T |
| NCIH2030_LUNG | 67212358 | 67212499 | 67212369 | 67212369 | Missense_Mutation | C | A | p.G221C |
| HSC3_UPPER_AERODIGESTIVE_TRACT | 67212358 | 67212499 | 67212495 | 67212495 | Missense_Mutation | A | T | p.S179T |
| NCIH1930_LUNG | 67217933 | 67218036 | 67218018 | 67218018 | Missense_Mutation | T | C | p.H73R |
| SNU324_PANCREAS | 67217933 | 67218036 | 67218031 | 67218031 | Missense_Mutation | A | G | p.C69R |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67170748 | 67170918 | 67170799 | 67170799 | Nonsense_Mutation | G | C | p.Y999* |
| JHUEM7_ENDOMETRIUM | 67221466 | 67221670 | 67221497 | 67221497 | Start_Codon_SNP | C | A | p.M1I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABCA10 |
| 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 ABCA10 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABCA10 |
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RelatedDrugs for ABCA10 |
| 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 ABCA10 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ABCA10 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
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