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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 ABCC8 |
 Gene summary |
| Gene information | Gene symbol | ABCC8 | Gene ID | 6833 |
| Gene name | ATP binding cassette subfamily C member 8 | |
| Synonyms | ABC36|HHF1|HI|HRINS|MRP8|PHHI|SUR|SUR1|SUR1delta2|TNDM2 | |
| Cytomap | 11p15.1 | |
| Type of gene | protein-coding | |
| Description | ATP-binding cassette sub-family C member 8ATP-binding cassette transporter sub-family C member 8ATP-binding cassette, sub-family C (CFTR/MRP), member 8sulfonylurea receptor (hyperinsulinemia)sulfonylurea receptor 1 | |
| Modification date | 20180528 | |
| UniProtAcc | Q09428 | |
| Context | PubMed: ABCC8 [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 ABCC8 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 ABCC8 |
| 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 ABCC8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69568 | 11 | 17414534:17414675:17415243:17415306:17415812:17415946 | 17415243:17415306 | ENSG00000006071.7 | ENST00000531642.1,ENST00000389817.3,ENST00000526037.1,ENST00000526168.1,ENST00000302539.4 |
| exon_skip_69569 | 11 | 17415243:17415306:17415812:17415946:17416718:17416822 | 17415812:17415946 | ENSG00000006071.7 | ENST00000531642.1,ENST00000389817.3,ENST00000526168.1,ENST00000302539.4 |
| exon_skip_69571 | 11 | 17415812:17415946:17416718:17416822:17417156:17417185 | 17416718:17416822 | ENSG00000006071.7 | ENST00000389817.3,ENST00000526168.1,ENST00000302539.4 |
| exon_skip_69572 | 11 | 17415812:17415946:17416718:17417017:17417156:17417185 | 17416718:17417017 | ENSG00000006071.7 | ENST00000531642.1 |
| exon_skip_69574 | 11 | 17417467:17417477:17418462:17418593:17418739:17418860 | 17418462:17418593 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4 |
| exon_skip_69575 | 11 | 17417467:17417477:17418462:17418605:17418739:17418860 | 17418462:17418605 | ENSG00000006071.7 | ENST00000528374.1 |
| exon_skip_69576 | 11 | 17418739:17418860:17419230:17419344:17419885:17419914 | 17419230:17419344 | ENSG00000006071.7 | ENST00000528374.1,ENST00000389817.3,ENST00000531137.1,ENST00000302539.4,ENST00000527905.1,ENST00000531891.1 |
| exon_skip_69577 | 11 | 17428434:17428676:17428900:17429000:17429938:17430064 | 17428900:17429000 | ENSG00000006071.7 | ENST00000526921.1,ENST00000389817.3,ENST00000302539.4,ENST00000529967.1 |
| exon_skip_69579 | 11 | 17429938:17430064:17432062:17432200:17434212:17434293 | 17432062:17432200 | ENSG00000006071.7 | ENST00000526921.1,ENST00000389817.3,ENST00000302539.4,ENST00000527905.1,ENST00000529967.1 |
| exon_skip_69580 | 11 | 17436850:17436886:17438476:17438509:17448595:17448701 | 17438476:17438509 | ENSG00000006071.7 | ENST00000389817.3,ENST00000527905.1 |
| exon_skip_69581 | 11 | 17436850:17436886:17438476:17438512:17448595:17448701 | 17438476:17438512 | ENSG00000006071.7 | ENST00000302539.4,ENST00000531911.1 |
| exon_skip_69582 | 11 | 17448595:17448701:17449413:17449489:17449835:17449952 | 17449413:17449489 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4,ENST00000527905.1 |
| exon_skip_69583 | 11 | 17450111:17450217:17452360:17452506:17453750:17453791 | 17452360:17452506 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4 |
| exon_skip_69586 | 11 | 17453750:17453791:17464266:17464429:17464724:17464859 | 17464266:17464429 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4,ENST00000527905.1,ENST00000526002.1,ENST00000532728.1 |
| exon_skip_69589 | 11 | 17464724:17464859:17470062:17470218:17474665:17474830 | 17470062:17470218 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4,ENST00000527905.1,ENST00000532728.1 |
| exon_skip_69591 | 11 | 17491647:17491769:17496432:17496574:17498175:17498354 | 17496432:17496574 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4,ENST00000527905.1,ENST00000532728.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ABCC8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69568 | 11 | 17414534:17414675:17415243:17415306:17415812:17415946 | 17415243:17415306 | ENSG00000006071.7 | ENST00000526037.1,ENST00000531642.1,ENST00000389817.3,ENST00000302539.4,ENST00000526168.1 |
| exon_skip_69569 | 11 | 17415243:17415306:17415812:17415946:17416718:17416822 | 17415812:17415946 | ENSG00000006071.7 | ENST00000531642.1,ENST00000389817.3,ENST00000302539.4,ENST00000526168.1 |
| exon_skip_69571 | 11 | 17415812:17415946:17416718:17416822:17417156:17417185 | 17416718:17416822 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4,ENST00000526168.1 |
| exon_skip_69572 | 11 | 17415812:17415946:17416718:17417017:17417156:17417185 | 17416718:17417017 | ENSG00000006071.7 | ENST00000531642.1 |
| exon_skip_69574 | 11 | 17417467:17417477:17418462:17418593:17418739:17418860 | 17418462:17418593 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4 |
| exon_skip_69575 | 11 | 17417467:17417477:17418462:17418605:17418739:17418860 | 17418462:17418605 | ENSG00000006071.7 | ENST00000528374.1 |
| exon_skip_69576 | 11 | 17418739:17418860:17419230:17419344:17419885:17419914 | 17419230:17419344 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4,ENST00000528374.1,ENST00000527905.1,ENST00000531891.1,ENST00000531137.1 |
| exon_skip_69577 | 11 | 17428434:17428676:17428900:17429000:17429938:17430064 | 17428900:17429000 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4,ENST00000526921.1,ENST00000529967.1 |
| exon_skip_69579 | 11 | 17429938:17430064:17432062:17432200:17434212:17434293 | 17432062:17432200 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4,ENST00000527905.1,ENST00000526921.1,ENST00000529967.1 |
| exon_skip_69580 | 11 | 17436850:17436886:17438476:17438509:17448595:17448701 | 17438476:17438509 | ENSG00000006071.7 | ENST00000389817.3,ENST00000527905.1 |
| exon_skip_69581 | 11 | 17436850:17436886:17438476:17438512:17448595:17448701 | 17438476:17438512 | ENSG00000006071.7 | ENST00000302539.4,ENST00000531911.1 |
| exon_skip_69582 | 11 | 17448595:17448701:17449413:17449489:17449835:17449952 | 17449413:17449489 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4,ENST00000527905.1 |
| exon_skip_69583 | 11 | 17450111:17450217:17452360:17452506:17453750:17453791 | 17452360:17452506 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4 |
| exon_skip_69586 | 11 | 17453750:17453791:17464266:17464429:17464724:17464859 | 17464266:17464429 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4,ENST00000527905.1,ENST00000532728.1,ENST00000526002.1 |
| exon_skip_69589 | 11 | 17464724:17464859:17470062:17470218:17474665:17474830 | 17470062:17470218 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4,ENST00000527905.1,ENST00000532728.1 |
| exon_skip_69591 | 11 | 17491647:17491769:17496432:17496574:17498175:17498354 | 17496432:17496574 | ENSG00000006071.7 | ENST00000389817.3,ENST00000302539.4,ENST00000527905.1,ENST00000532728.1 |
| 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 ABCC8 |
| 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 |
| ENST00000389817 | 17415812 | 17415946 | Frame-shift |
| ENST00000389817 | 17416718 | 17416822 | Frame-shift |
| ENST00000389817 | 17418462 | 17418593 | Frame-shift |
| ENST00000389817 | 17428900 | 17429000 | Frame-shift |
| ENST00000389817 | 17449413 | 17449489 | Frame-shift |
| ENST00000389817 | 17452360 | 17452506 | Frame-shift |
| ENST00000389817 | 17464266 | 17464429 | Frame-shift |
| ENST00000389817 | 17496432 | 17496574 | Frame-shift |
| ENST00000389817 | 17415243 | 17415306 | In-frame |
| ENST00000389817 | 17419230 | 17419344 | In-frame |
| ENST00000389817 | 17432062 | 17432200 | In-frame |
| ENST00000389817 | 17438476 | 17438509 | In-frame |
| ENST00000389817 | 17470062 | 17470218 | 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 |
| ENST00000389817 | 17415812 | 17415946 | Frame-shift |
| ENST00000389817 | 17416718 | 17416822 | Frame-shift |
| ENST00000389817 | 17418462 | 17418593 | Frame-shift |
| ENST00000389817 | 17428900 | 17429000 | Frame-shift |
| ENST00000389817 | 17449413 | 17449489 | Frame-shift |
| ENST00000389817 | 17452360 | 17452506 | Frame-shift |
| ENST00000389817 | 17464266 | 17464429 | Frame-shift |
| ENST00000389817 | 17496432 | 17496574 | Frame-shift |
| ENST00000389817 | 17415243 | 17415306 | In-frame |
| ENST00000389817 | 17419230 | 17419344 | In-frame |
| ENST00000389817 | 17432062 | 17432200 | In-frame |
| ENST00000389817 | 17438476 | 17438509 | In-frame |
| ENST00000389817 | 17470062 | 17470218 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ABCC8 |
| 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 |
| ENST00000389817 | 4938 | 1581 | 17470062 | 17470218 | 1246 | 1401 | 392 | 444 |
| ENST00000389817 | 4938 | 1581 | 17438476 | 17438509 | 2292 | 2324 | 741 | 751 |
| ENST00000389817 | 4938 | 1581 | 17432062 | 17432200 | 2626 | 2763 | 852 | 898 |
| ENST00000389817 | 4938 | 1581 | 17419230 | 17419344 | 3823 | 3936 | 1251 | 1289 |
| ENST00000389817 | 4938 | 1581 | 17415243 | 17415306 | 4615 | 4677 | 1515 | 1536 |
| 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 |
| ENST00000389817 | 4938 | 1581 | 17470062 | 17470218 | 1246 | 1401 | 392 | 444 |
| ENST00000389817 | 4938 | 1581 | 17438476 | 17438509 | 2292 | 2324 | 741 | 751 |
| ENST00000389817 | 4938 | 1581 | 17432062 | 17432200 | 2626 | 2763 | 852 | 898 |
| ENST00000389817 | 4938 | 1581 | 17419230 | 17419344 | 3823 | 3936 | 1251 | 1289 |
| ENST00000389817 | 4938 | 1581 | 17415243 | 17415306 | 4615 | 4677 | 1515 | 1536 |
| 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 |
| Q09428 | 392 | 444 | 51 | 1581 | Alternative sequence | ID=VSP_044090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21671119;Dbxref=PMID:21671119 |
| Q09428 | 392 | 444 | 1 | 1581 | Chain | ID=PRO_0000093400;Note=ATP-binding cassette sub-family C member 8 |
| Q09428 | 392 | 444 | 299 | 602 | Domain | Note=ABC transmembrane type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q09428 | 392 | 444 | 406 | 406 | Natural variant | ID=VAR_008644;Note=In HHF1. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9618169;Dbxref=dbSNP:rs72559728,PMID:9618169 |
| Q09428 | 392 | 444 | 418 | 418 | Natural variant | ID=VAR_031359;Note=In HHF1. C->R;Dbxref=dbSNP:rs67254669 |
| Q09428 | 392 | 444 | 435 | 435 | Natural variant | ID=VAR_029780;Note=In TNDM2. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16885549;Dbxref=PMID:16885549 |
| Q09428 | 392 | 444 | 377 | 434 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q09428 | 392 | 444 | 435 | 455 | Transmembrane | Note=Helical%3B Name%3D8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q09428 | 741 | 751 | 51 | 1581 | Alternative sequence | ID=VSP_044090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21671119;Dbxref=PMID:21671119 |
| Q09428 | 741 | 751 | 1 | 1581 | Chain | ID=PRO_0000093400;Note=ATP-binding cassette sub-family C member 8 |
| Q09428 | 741 | 751 | 679 | 929 | Domain | Note=ABC transporter 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 |
| Q09428 | 741 | 751 | 606 | 1004 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q09428 | 852 | 898 | 51 | 1581 | Alternative sequence | ID=VSP_044090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21671119;Dbxref=PMID:21671119 |
| Q09428 | 852 | 898 | 1 | 1581 | Chain | ID=PRO_0000093400;Note=ATP-binding cassette sub-family C member 8 |
| Q09428 | 852 | 898 | 679 | 929 | Domain | Note=ABC transporter 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 |
| Q09428 | 852 | 898 | 889 | 889 | Natural variant | ID=VAR_031369;Note=In HHF1%3B no effect on cell membrane expression%3B no effect on traffic efficiency%3B reduced potassium channel response to activators such as MgADP or to diazoxide. K->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24814349;D |
| Q09428 | 852 | 898 | 890 | 890 | Natural variant | ID=VAR_072943;Note=In HHF1%3B no effect on cell membrane expression%3B no effect on traffic efficiency%3B dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubM |
| Q09428 | 852 | 898 | 606 | 1004 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q09428 | 1251 | 1289 | 51 | 1581 | Alternative sequence | ID=VSP_044090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21671119;Dbxref=PMID:21671119 |
| Q09428 | 1251 | 1289 | 1 | 1581 | Chain | ID=PRO_0000093400;Note=ATP-binding cassette sub-family C member 8 |
| Q09428 | 1251 | 1289 | 1012 | 1306 | Domain | Note=ABC transmembrane type-1 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q09428 | 1251 | 1289 | 1181 | 1251 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q09428 | 1251 | 1289 | 1273 | 1276 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q09428 | 1251 | 1289 | 1252 | 1272 | Transmembrane | Note=Helical%3B Name%3D16;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q09428 | 1251 | 1289 | 1277 | 1297 | Transmembrane | Note=Helical%3B Name%3D17;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q09428 | 1515 | 1536 | 51 | 1581 | Alternative sequence | ID=VSP_044090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21671119;Dbxref=PMID:21671119 |
| Q09428 | 1515 | 1536 | 1 | 1581 | Chain | ID=PRO_0000093400;Note=ATP-binding cassette sub-family C member 8 |
| Q09428 | 1515 | 1536 | 1344 | 1578 | Domain | Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 |
| Q09428 | 1515 | 1536 | 1522 | 1522 | Natural variant | ID=VAR_072953;Note=In PNDM%3B highly reduced inhibition by ATP when associated whith I-229. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17668386;Dbxref=PMID:17668386 |
| Q09428 | 1515 | 1536 | 1298 | 1581 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q09428 | 392 | 444 | 51 | 1581 | Alternative sequence | ID=VSP_044090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21671119;Dbxref=PMID:21671119 |
| Q09428 | 392 | 444 | 1 | 1581 | Chain | ID=PRO_0000093400;Note=ATP-binding cassette sub-family C member 8 |
| Q09428 | 392 | 444 | 299 | 602 | Domain | Note=ABC transmembrane type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q09428 | 392 | 444 | 406 | 406 | Natural variant | ID=VAR_008644;Note=In HHF1. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9618169;Dbxref=dbSNP:rs72559728,PMID:9618169 |
| Q09428 | 392 | 444 | 418 | 418 | Natural variant | ID=VAR_031359;Note=In HHF1. C->R;Dbxref=dbSNP:rs67254669 |
| Q09428 | 392 | 444 | 435 | 435 | Natural variant | ID=VAR_029780;Note=In TNDM2. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16885549;Dbxref=PMID:16885549 |
| Q09428 | 392 | 444 | 377 | 434 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q09428 | 392 | 444 | 435 | 455 | Transmembrane | Note=Helical%3B Name%3D8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q09428 | 741 | 751 | 51 | 1581 | Alternative sequence | ID=VSP_044090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21671119;Dbxref=PMID:21671119 |
| Q09428 | 741 | 751 | 1 | 1581 | Chain | ID=PRO_0000093400;Note=ATP-binding cassette sub-family C member 8 |
| Q09428 | 741 | 751 | 679 | 929 | Domain | Note=ABC transporter 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 |
| Q09428 | 741 | 751 | 606 | 1004 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q09428 | 852 | 898 | 51 | 1581 | Alternative sequence | ID=VSP_044090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21671119;Dbxref=PMID:21671119 |
| Q09428 | 852 | 898 | 1 | 1581 | Chain | ID=PRO_0000093400;Note=ATP-binding cassette sub-family C member 8 |
| Q09428 | 852 | 898 | 679 | 929 | Domain | Note=ABC transporter 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 |
| Q09428 | 852 | 898 | 889 | 889 | Natural variant | ID=VAR_031369;Note=In HHF1%3B no effect on cell membrane expression%3B no effect on traffic efficiency%3B reduced potassium channel response to activators such as MgADP or to diazoxide. K->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24814349;D |
| Q09428 | 852 | 898 | 890 | 890 | Natural variant | ID=VAR_072943;Note=In HHF1%3B no effect on cell membrane expression%3B no effect on traffic efficiency%3B dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubM |
| Q09428 | 852 | 898 | 606 | 1004 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q09428 | 1251 | 1289 | 51 | 1581 | Alternative sequence | ID=VSP_044090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21671119;Dbxref=PMID:21671119 |
| Q09428 | 1251 | 1289 | 1 | 1581 | Chain | ID=PRO_0000093400;Note=ATP-binding cassette sub-family C member 8 |
| Q09428 | 1251 | 1289 | 1012 | 1306 | Domain | Note=ABC transmembrane type-1 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q09428 | 1251 | 1289 | 1181 | 1251 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q09428 | 1251 | 1289 | 1273 | 1276 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q09428 | 1251 | 1289 | 1252 | 1272 | Transmembrane | Note=Helical%3B Name%3D16;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q09428 | 1251 | 1289 | 1277 | 1297 | Transmembrane | Note=Helical%3B Name%3D17;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q09428 | 1515 | 1536 | 51 | 1581 | Alternative sequence | ID=VSP_044090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:21671119;Dbxref=PMID:21671119 |
| Q09428 | 1515 | 1536 | 1 | 1581 | Chain | ID=PRO_0000093400;Note=ATP-binding cassette sub-family C member 8 |
| Q09428 | 1515 | 1536 | 1344 | 1578 | Domain | Note=ABC transporter 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 |
| Q09428 | 1515 | 1536 | 1522 | 1522 | Natural variant | ID=VAR_072953;Note=In PNDM%3B highly reduced inhibition by ATP when associated whith I-229. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17668386;Dbxref=PMID:17668386 |
| Q09428 | 1515 | 1536 | 1298 | 1581 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for ABCC8 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| BLCA | TCGA-E5-A2PC-01 | exon_skip_69577 | 17428901 | 17429000 | 17428979 | 17428979 | Frame_Shift_Del | C | - | p.A948fs |
| BLCA | TCGA-E5-A2PC-01 | exon_skip_69577 | 17428901 | 17429000 | 17428979 | 17428979 | Frame_Shift_Del | C | - | p.A949fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_69582 | 17449414 | 17449489 | 17449417 | 17449417 | Frame_Shift_Del | G | - | p.R705fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_69582 | 17449414 | 17449489 | 17449417 | 17449417 | Frame_Shift_Del | G | - | p.R705fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_69591 | 17496433 | 17496574 | 17496568 | 17496568 | Frame_Shift_Del | C | - | p.G52fs |
| SKCM | TCGA-D3-A1Q6-06 | exon_skip_69571 | 17416719 | 17416822 | 17416776 | 17416776 | Nonsense_Mutation | C | A | p.E1452X |
| SKCM | TCGA-D3-A1Q6-06 | exon_skip_69571 | 17416719 | 17416822 | 17416776 | 17416776 | Nonsense_Mutation | C | A | p.E1453* |
| SKCM | TCGA-D3-A1Q6-06 | exon_skip_69572 | 17416719 | 17417017 | 17416776 | 17416776 | Nonsense_Mutation | C | A | p.E1452X |
| SKCM | TCGA-D3-A1Q6-06 | exon_skip_69572 | 17416719 | 17417017 | 17416776 | 17416776 | Nonsense_Mutation | C | A | p.E1453* |
| LUAD | TCGA-78-7220-01 | exon_skip_69577 | 17428901 | 17429000 | 17428910 | 17428910 | Nonsense_Mutation | C | A | p.E972* |
| SKCM | TCGA-D3-A8GC-06 | exon_skip_69583 | 17452361 | 17452506 | 17452386 | 17452386 | Nonsense_Mutation | G | A | p.R598* |
| LIHC | TCGA-DD-AAC9-01 | exon_skip_69591 | 17496433 | 17496574 | 17496563 | 17496563 | Nonsense_Mutation | G | A | p.Q54X |
| LUSC | TCGA-18-3421-01 | exon_skip_69568 | 17415244 | 17415306 | 17415307 | 17415307 | Splice_Site | C | A | p.E1516_splice |
| LUSC | TCGA-18-3421-01 | exon_skip_69568 | 17415244 | 17415306 | 17415308 | 17415308 | Splice_Site | T | A | p.E1516_splice |
| - 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 |
| RCCER_KIDNEY | 17415244 | 17415306 | 17415290 | 17415290 | Frame_Shift_Del | T | - | p.K1521fs |
| WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17415813 | 17415946 | 17415872 | 17415872 | Missense_Mutation | C | T | p.V1496M |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17415813 | 17415946 | 17415900 | 17415900 | Missense_Mutation | C | A | p.R1486S |
| SKMEL5_SKIN | 17416719 | 17416822 | 17416767 | 17416767 | Missense_Mutation | C | T | p.E1455K |
| SKMEL5_SKIN | 17416719 | 17417017 | 17416767 | 17416767 | Missense_Mutation | C | T | p.E1455K |
| EN_ENDOMETRIUM | 17416719 | 17416822 | 17416797 | 17416797 | Missense_Mutation | A | G | p.C1445R |
| EN_ENDOMETRIUM | 17416719 | 17417017 | 17416797 | 17416797 | Missense_Mutation | A | G | p.C1445R |
| NCIH446_LUNG | 17416719 | 17416822 | 17416809 | 17416809 | Missense_Mutation | G | C | p.P1441A |
| NCIH446_LUNG | 17416719 | 17417017 | 17416809 | 17416809 | Missense_Mutation | G | C | p.P1441A |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17418463 | 17418605 | 17418527 | 17418527 | Missense_Mutation | C | T | p.R1352H |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17418463 | 17418593 | 17418527 | 17418527 | Missense_Mutation | C | T | p.R1352H |
| SNUC5_LARGE_INTESTINE | 17419231 | 17419344 | 17419311 | 17419311 | Missense_Mutation | C | T | p.A1263T |
| BT474_BREAST | 17419231 | 17419344 | 17419314 | 17419314 | Missense_Mutation | C | T | p.A1262T |
| SNU245_BILIARY_TRACT | 17419231 | 17419344 | 17419323 | 17419323 | Missense_Mutation | C | T | p.V1259M |
| CAL78_BONE | 17419231 | 17419344 | 17419323 | 17419323 | Missense_Mutation | C | T | p.V1259M |
| HCC1438_LUNG | 17428901 | 17429000 | 17428933 | 17428933 | Missense_Mutation | T | A | p.D963V |
| ABC1_LUNG | 17428901 | 17429000 | 17428943 | 17428943 | Missense_Mutation | A | G | p.S960P |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 17428901 | 17429000 | 17428952 | 17428952 | Missense_Mutation | G | A | p.R957C |
| NCIH211_LUNG | 17432063 | 17432200 | 17432068 | 17432068 | Missense_Mutation | C | A | p.D897Y |
| NB17_AUTONOMIC_GANGLIA | 17432063 | 17432200 | 17432159 | 17432159 | Missense_Mutation | G | C | p.H866Q |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 17438477 | 17438512 | 17438480 | 17438480 | Missense_Mutation | G | T | p.P751H |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 17438477 | 17438509 | 17438480 | 17438480 | Missense_Mutation | G | T | p.P751H |
| MFE319_ENDOMETRIUM | 17449414 | 17449489 | 17449425 | 17449425 | Missense_Mutation | C | T | p.R702H |
| MCC13_SKIN | 17449414 | 17449489 | 17449482 | 17449483 | Missense_Mutation | CC | TT | p.G683K |
| MCC13_SKIN | 17449414 | 17449489 | 17449482 | 17449482 | Missense_Mutation | C | T | p.G683E |
| MCC13_SKIN | 17449414 | 17449489 | 17449483 | 17449483 | Missense_Mutation | C | T | p.G683R |
| HCT116_LARGE_INTESTINE | 17449414 | 17449489 | 17449484 | 17449484 | Missense_Mutation | C | T | p.M682I |
| OC316_OVARY | 17452361 | 17452506 | 17452377 | 17452377 | Missense_Mutation | C | T | p.V601I |
| OC314_OVARY | 17452361 | 17452506 | 17452377 | 17452377 | Missense_Mutation | C | T | p.V601I |
| NCIH1975_LUNG | 17452361 | 17452506 | 17452385 | 17452385 | Missense_Mutation | C | A | p.R598L |
| K2_SKIN | 17464267 | 17464429 | 17464275 | 17464275 | Missense_Mutation | G | A | p.S541F |
| EPLC272H_LUNG | 17464267 | 17464429 | 17464326 | 17464326 | Missense_Mutation | G | A | p.T524M |
| C75_LARGE_INTESTINE | 17464267 | 17464429 | 17464341 | 17464341 | Missense_Mutation | C | T | p.R519H |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17464267 | 17464429 | 17464396 | 17464396 | Missense_Mutation | C | T | p.E501K |
| GMEL_SKIN | 17470063 | 17470218 | 17470094 | 17470094 | Missense_Mutation | A | G | p.L434S |
| CW2_LARGE_INTESTINE | 17470063 | 17470218 | 17470199 | 17470199 | Missense_Mutation | A | T | p.I399N |
| JHH1_LIVER | 17496433 | 17496574 | 17496473 | 17496473 | Missense_Mutation | C | T | p.V84I |
| HEC1A_ENDOMETRIUM | 17496433 | 17496574 | 17496503 | 17496503 | Missense_Mutation | G | A | p.R74W |
| HEC1_ENDOMETRIUM | 17496433 | 17496574 | 17496503 | 17496503 | Missense_Mutation | G | A | p.R74W |
| UMUC6_URINARY_TRACT | 17418463 | 17418605 | 17418568 | 17418568 | Nonsense_Mutation | C | T | p.W1338* |
| UMUC6_URINARY_TRACT | 17418463 | 17418593 | 17418568 | 17418568 | Nonsense_Mutation | C | T | p.W1338* |
| CAL78_BONE | 17428901 | 17429000 | 17428922 | 17428922 | Nonsense_Mutation | G | A | p.Q967* |
| HT115_LARGE_INTESTINE | 17415244 | 17415306 | 17415245 | 17415245 | Splice_Site | G | A | p.A1536V |
| ISTSL2_LUNG | 17415813 | 17415946 | 17415813 | 17415813 | Splice_Site | C | T | p.T1515T |
| HEYA8_OVARY | 17428901 | 17429000 | 17429000 | 17429000 | Splice_Site | C | A | p.E941* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABCC8 |
| 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 ABCC8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABCC8 |
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RelatedDrugs for ABCC8 |
| 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 |
| Q09428 | DB00222 | Glimepiride | ATP-binding cassette sub-family C member 8 | small molecule | approved | |
| Q09428 | DB01016 | Glyburide | ATP-binding cassette sub-family C member 8 | small molecule | approved | |
| Q09428 | DB01120 | Gliclazide | ATP-binding cassette sub-family C member 8 | small molecule | approved | |
| Q09428 | DB00672 | Chlorpropamide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational | |
| Q09428 | DB00731 | Nateglinide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational | |
| Q09428 | DB00839 | Tolazamide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational | |
| Q09428 | DB00912 | Repaglinide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational | |
| Q09428 | DB01067 | Glipizide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational | |
| Q09428 | DB01124 | Tolbutamide | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational | |
| Q09428 | DB01251 | Gliquidone | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational | |
| Q09428 | DB01382 | Glymidine | ATP-binding cassette sub-family C member 8 | small molecule | approved|investigational |
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RelatedDiseases for ABCC8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ABCC8 | C2931832 | Hyperinsulinemic hypoglycemia, familial, 1 | 19 | ORPHANET;UNIPROT |
| ABCC8 | C1833104 | DIABETES MELLITUS, PERMANENT NEONATAL | 4 | CTD_human;ORPHANET;UNIPROT |
| ABCC8 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | CTD_human;HPO;ORPHANET |
| ABCC8 | C3888018 | Congenital Hyperinsulinism | 2 | CTD_human |
| ABCC8 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| ABCC8 | C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | CTD_human |
| ABCC8 | C0271714 | Hypoglycemia, leucine-induced | 1 | CTD_human;UNIPROT |
| ABCC8 | C1835887 | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) | 1 | CTD_human;UNIPROT |
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