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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 ABCC12 |
 Gene summary |
| Gene information | Gene symbol | ABCC12 | Gene ID | 94160 |
| Gene name | ATP binding cassette subfamily C member 12 | |
| Synonyms | MRP9 | |
| Cytomap | 16q12.1 | |
| Type of gene | protein-coding | |
| Description | multidrug resistance-associated protein 9ATP-binding cassette sub-family C member 12ATP-binding cassette transporter sub-family C member 12ATP-binding cassette, sub-family C (CFTR/MRP), member 12 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96J65 | |
| Context | PubMed: ABCC12 [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 ABCC12 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 ABCC12 |
| 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 ABCC12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_144158 | 16 | 48119503:48119617:48120651:48120730:48121836:48121996 | 48120651:48120730 | ENSG00000140798.11 | ENST00000448542.1,ENST00000311303.3,ENST00000416054.1 |
| exon_skip_144160 | 16 | 48119503:48119617:48120651:48120730:48121850:48121996 | 48120651:48120730 | ENSG00000140798.11 | ENST00000529504.1 |
| exon_skip_144163 | 16 | 48125030:48125120:48130656:48130843:48134782:48134920 | 48130656:48130843 | ENSG00000140798.11 | ENST00000534418.1,ENST00000448542.1,ENST00000532494.1,ENST00000529504.1,ENST00000529084.1,ENST00000497206.2,ENST00000416054.1 |
| exon_skip_144164 | 16 | 48130656:48130843:48134782:48134920:48138052:48138279 | 48134782:48134920 | ENSG00000140798.11 | ENST00000534418.1,ENST00000532494.1,ENST00000529084.1,ENST00000497206.2,ENST00000416054.1 |
| exon_skip_144165 | 16 | 48134782:48134920:48138052:48138279:48139049:48139247 | 48138052:48138279 | ENSG00000140798.11 | ENST00000534418.1,ENST00000532494.1,ENST00000311303.3,ENST00000529084.1,ENST00000497206.2,ENST00000416054.1 |
| exon_skip_144166 | 16 | 48139049:48139247:48141232:48141336:48142350:48142440 | 48141232:48141336 | ENSG00000140798.11 | ENST00000534418.1,ENST00000448542.1,ENST00000532494.1,ENST00000529504.1,ENST00000311303.3,ENST00000529084.1,ENST00000497206.2,ENST00000416054.1 |
| exon_skip_144167 | 16 | 48142350:48142440:48145346:48145418:48145488:48145573 | 48145346:48145418 | ENSG00000140798.11 | ENST00000311303.3 |
| exon_skip_144173 | 16 | 48158123:48158195:48162369:48162648:48164698:48164806 | 48162369:48162648 | ENSG00000140798.11 | ENST00000534418.1,ENST00000528693.1,ENST00000448542.1,ENST00000532494.1,ENST00000529504.1,ENST00000311303.3,ENST00000529084.1,ENST00000497206.2,ENST00000416054.1 |
| exon_skip_144174 | 16 | 48167679:48167746:48172138:48172286:48174597:48174831 | 48172138:48172286 | ENSG00000140798.11 | ENST00000534418.1 |
| exon_skip_144176 | 16 | 48172138:48172286:48173073:48173247:48174597:48174831 | 48173073:48173247 | ENSG00000140798.11 | ENST00000528693.1,ENST00000448542.1,ENST00000532494.1,ENST00000529504.1,ENST00000311303.3,ENST00000529084.1,ENST00000497206.2,ENST00000416054.1 |
| exon_skip_144177 | 16 | 48172138:48172286:48173098:48173247:48174597:48174831 | 48173098:48173247 | ENSG00000140798.11 | ENST00000533639.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ABCC12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_144158 | 16 | 48119503:48119617:48120651:48120730:48121836:48121996 | 48120651:48120730 | ENSG00000140798.11 | ENST00000311303.3,ENST00000448542.1,ENST00000416054.1 |
| exon_skip_144160 | 16 | 48119503:48119617:48120651:48120730:48121850:48121996 | 48120651:48120730 | ENSG00000140798.11 | ENST00000529504.1 |
| exon_skip_144163 | 16 | 48125030:48125120:48130656:48130843:48134782:48134920 | 48130656:48130843 | ENSG00000140798.11 | ENST00000534418.1,ENST00000529084.1,ENST00000497206.2,ENST00000532494.1,ENST00000529504.1,ENST00000448542.1,ENST00000416054.1 |
| exon_skip_144164 | 16 | 48130656:48130843:48134782:48134920:48138052:48138279 | 48134782:48134920 | ENSG00000140798.11 | ENST00000534418.1,ENST00000529084.1,ENST00000497206.2,ENST00000532494.1,ENST00000416054.1 |
| exon_skip_144165 | 16 | 48134782:48134920:48138052:48138279:48139049:48139247 | 48138052:48138279 | ENSG00000140798.11 | ENST00000311303.3,ENST00000534418.1,ENST00000529084.1,ENST00000497206.2,ENST00000532494.1,ENST00000416054.1 |
| exon_skip_144166 | 16 | 48139049:48139247:48141232:48141336:48142350:48142440 | 48141232:48141336 | ENSG00000140798.11 | ENST00000311303.3,ENST00000534418.1,ENST00000529084.1,ENST00000497206.2,ENST00000532494.1,ENST00000529504.1,ENST00000448542.1,ENST00000416054.1 |
| exon_skip_144167 | 16 | 48142350:48142440:48145346:48145418:48145488:48145573 | 48145346:48145418 | ENSG00000140798.11 | ENST00000311303.3 |
| 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 ABCC12 |
| 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 |
| ENST00000311303 | 48120651 | 48120730 | Frame-shift |
| ENST00000311303 | 48138052 | 48138279 | Frame-shift |
| ENST00000311303 | 48141232 | 48141336 | Frame-shift |
| ENST00000311303 | 48145346 | 48145418 | In-frame |
| ENST00000311303 | 48162369 | 48162648 | In-frame |
| ENST00000311303 | 48173073 | 48173247 | 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 |
| ENST00000311303 | 48120651 | 48120730 | Frame-shift |
| ENST00000311303 | 48138052 | 48138279 | Frame-shift |
| ENST00000311303 | 48141232 | 48141336 | Frame-shift |
| ENST00000311303 | 48145346 | 48145418 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ABCC12 |
| 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 |
| ENST00000311303 | 5185 | 1359 | 48173073 | 48173247 | 1004 | 1177 | 219 | 277 |
| ENST00000311303 | 5185 | 1359 | 48162369 | 48162648 | 1583 | 1861 | 412 | 505 |
| ENST00000311303 | 5185 | 1359 | 48145346 | 48145418 | 2556 | 2627 | 736 | 760 |
| 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 |
| ENST00000311303 | 5185 | 1359 | 48145346 | 48145418 | 2556 | 2627 | 736 | 760 |
| 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 |
| Q96J65 | 219 | 277 | 220 | 277 | Alternative sequence | ID=VSP_021085;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12011458;Dbxref=PMID:12011458 |
| Q96J65 | 219 | 277 | 1 | 1359 | Chain | ID=PRO_0000253578;Note=Multidrug resistance-associated protein 9 |
| Q96J65 | 219 | 277 | 123 | 403 | Domain | Note=ABC transmembrane type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q96J65 | 219 | 277 | 231 | 251 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q96J65 | 219 | 277 | 256 | 276 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441 |
| Q96J65 | 412 | 505 | 1 | 1359 | Chain | ID=PRO_0000253578;Note=Multidrug resistance-associated protein 9 |
| Q96J65 | 412 | 505 | 467 | 701 | Domain | Note=ABC transporter 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434 |
| Q96J65 | 412 | 505 | 438 | 438 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96J65 | 412 | 505 | 448 | 450 | Sequence conflict | Note=SRK->RQE;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96J65 | 412 | 505 | 448 | 450 | Sequence conflict | Note=SRK->RQE;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96J65 | 412 | 505 | 448 | 450 | Sequence conflict | Note=SRK->RQE;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96J65 | 412 | 505 | 448 | 450 | Sequence conflict | Note=SRK->RQE;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96J65 | 736 | 760 | 634 | 1359 | Alternative sequence | ID=VSP_021087;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96J65 | 736 | 760 | 734 | 736 | Alternative sequence | ID=VSP_021088;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11688999;Dbxref=PMID:11688999 |
| Q96J65 | 736 | 760 | 737 | 760 | Alternative sequence | ID=VSP_021089;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12011458;Dbxref=PMID:12011458 |
| Q96J65 | 736 | 760 | 1 | 1359 | Chain | ID=PRO_0000253578;Note=Multidrug resistance-associated protein 9 |
| 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 |
| Q96J65 | 736 | 760 | 634 | 1359 | Alternative sequence | ID=VSP_021087;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96J65 | 736 | 760 | 734 | 736 | Alternative sequence | ID=VSP_021088;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11688999;Dbxref=PMID:11688999 |
| Q96J65 | 736 | 760 | 737 | 760 | Alternative sequence | ID=VSP_021089;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12011458;Dbxref=PMID:12011458 |
| Q96J65 | 736 | 760 | 1 | 1359 | Chain | ID=PRO_0000253578;Note=Multidrug resistance-associated protein 9 |
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SNVs in the skipped exons for ABCC12 |
| - 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_144163 | 48130657 | 48130843 | 48130709 | 48130709 | Frame_Shift_Del | A | - | p.F1048fs |
| READ | TCGA-EI-6882-01 | exon_skip_144165 | 48138053 | 48138279 | 48138148 | 48138148 | Frame_Shift_Del | A | - | p.M936fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_144165 | 48138053 | 48138279 | 48138216 | 48138216 | Frame_Shift_Del | A | - | p.S913fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_144165 | 48138053 | 48138279 | 48138266 | 48138266 | Frame_Shift_Del | G | - | p.P896fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_144173 | 48162370 | 48162648 | 48162578 | 48162578 | Frame_Shift_Del | A | - | p.L436fs |
| COAD | TCGA-CK-5913-01 | exon_skip_144165 | 48138053 | 48138279 | 48138147 | 48138148 | Frame_Shift_Ins | - | A | p.M936fs |
| LGG | TCGA-DU-6392-01 | exon_skip_144160 exon_skip_144158 | 48120652 | 48120730 | 48120675 | 48120675 | Nonsense_Mutation | C | A | p.E1231* |
| THYM | TCGA-5U-AB0D-01 | exon_skip_144163 | 48130657 | 48130843 | 48130666 | 48130666 | Nonsense_Mutation | G | T | p.Y1062X |
| SKCM | TCGA-EE-A2GR-06 | exon_skip_144163 | 48130657 | 48130843 | 48130780 | 48130780 | Nonsense_Mutation | C | T | p.W1024* |
| SKCM | TCGA-EE-A2GR-06 | exon_skip_144163 | 48130657 | 48130843 | 48130780 | 48130780 | Nonsense_Mutation | C | T | p.W1024X |
| LUAD | TCGA-05-4382-01 | exon_skip_144173 | 48162370 | 48162648 | 48162469 | 48162469 | Nonsense_Mutation | G | T | p.Y472* |
| BLCA | TCGA-DK-A3WW-01 | exon_skip_144173 | 48162370 | 48162648 | 48162609 | 48162609 | Nonsense_Mutation | G | A | p.Q426* |
| - 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 |
| A427_LUNG | 48120652 | 48120730 | 48120710 | 48120711 | Frame_Shift_Ins | - | A | p.E1219fs |
| NCIH64_LUNG | 48120652 | 48120730 | 48120691 | 48120691 | Missense_Mutation | C | A | p.M1225I |
| SW684_SOFT_TISSUE | 48120652 | 48120730 | 48120696 | 48120696 | Missense_Mutation | C | T | p.E1224K |
| MCC13_SKIN | 48130657 | 48130843 | 48130683 | 48130683 | Missense_Mutation | C | G | p.G1057R |
| MEL202_EYE | 48130657 | 48130843 | 48130691 | 48130691 | Missense_Mutation | G | A | p.S1054L |
| AGS_STOMACH | 48130657 | 48130843 | 48130694 | 48130694 | Missense_Mutation | G | T | p.T1053N |
| HCT15_LARGE_INTESTINE | 48130657 | 48130843 | 48130758 | 48130758 | Missense_Mutation | G | T | p.L1032I |
| NCIH2141_LUNG | 48130657 | 48130843 | 48130784 | 48130784 | Missense_Mutation | C | A | p.R1023M |
| MERO84_LUNG | 48134783 | 48134920 | 48134859 | 48134859 | Missense_Mutation | A | G | p.F988L |
| NCIH2286_LUNG | 48134783 | 48134920 | 48134883 | 48134883 | Missense_Mutation | C | T | p.E980K |
| RH30_SOFT_TISSUE | 48138053 | 48138279 | 48138117 | 48138117 | Missense_Mutation | C | A | p.A946S |
| SJRH30_SOFT_TISSUE | 48138053 | 48138279 | 48138117 | 48138117 | Missense_Mutation | C | A | p.A946S |
| BICR6_UPPER_AERODIGESTIVE_TRACT | 48138053 | 48138279 | 48138217 | 48138217 | Missense_Mutation | A | T | p.F912L |
| JHUEM7_ENDOMETRIUM | 48138053 | 48138279 | 48138226 | 48138226 | Missense_Mutation | C | A | p.M909I |
| NCIH1694_LUNG | 48141233 | 48141336 | 48141283 | 48141283 | Missense_Mutation | C | T | p.A809T |
| HT115_LARGE_INTESTINE | 48145347 | 48145418 | 48145350 | 48145350 | Missense_Mutation | T | G | p.K760Q |
| SW872_SOFT_TISSUE | 48145347 | 48145418 | 48145390 | 48145390 | Missense_Mutation | T | G | p.E746D |
| KYSE410_OESOPHAGUS | 48145347 | 48145418 | 48145399 | 48145399 | Missense_Mutation | C | G | p.E743D |
| SNU1040_LARGE_INTESTINE | 48162370 | 48162648 | 48162437 | 48162437 | Missense_Mutation | G | A | p.T483I |
| SKPNDW_BONE | 48162370 | 48162648 | 48162473 | 48162473 | Missense_Mutation | G | T | p.A471E |
| SW1271_LUNG | 48162370 | 48162648 | 48162503 | 48162503 | Missense_Mutation | C | A | p.R461M |
| HEC1A_ENDOMETRIUM | 48173074 | 48173247 | 48173147 | 48173147 | Missense_Mutation | G | A | p.A253V |
| HEC1A_ENDOMETRIUM | 48173099 | 48173247 | 48173147 | 48173147 | Missense_Mutation | G | A | p.A253V |
| HEC1_ENDOMETRIUM | 48173074 | 48173247 | 48173147 | 48173147 | Missense_Mutation | G | A | p.A253V |
| HEC1_ENDOMETRIUM | 48173099 | 48173247 | 48173147 | 48173147 | Missense_Mutation | G | A | p.A253V |
| HCT116_LARGE_INTESTINE | 48173074 | 48173247 | 48173150 | 48173150 | Missense_Mutation | G | A | p.A252V |
| HCT116_LARGE_INTESTINE | 48173099 | 48173247 | 48173150 | 48173150 | Missense_Mutation | G | A | p.A252V |
| FTC133_THYROID | 48173074 | 48173247 | 48173224 | 48173224 | Missense_Mutation | A | T | p.D227E |
| FTC133_THYROID | 48173099 | 48173247 | 48173224 | 48173224 | Missense_Mutation | A | T | p.D227E |
| MDAPCA2B_PROSTATE | 48138053 | 48138279 | 48138054 | 48138054 | Splice_Site | G | A | p.R967C |
| RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48141233 | 48141336 | 48141335 | 48141335 | Splice_Site | C | A | p.G791G |
| SNU423_LIVER | 48172139 | 48172286 | 48172285 | 48172285 | Splice_Site | A | C | p.M278R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABCC12 |
| 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 ABCC12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABCC12 |
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RelatedDrugs for ABCC12 |
| 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 ABCC12 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ABCC12 | C0005956 | Bone Marrow Diseases | 1 | CTD_human |
| ABCC12 | C0041755 | Adverse reaction to drug | 1 | CTD_human |
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