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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 ABCC5 |
 Gene summary |
| Gene information | Gene symbol | ABCC5 | Gene ID | 10057 |
| Gene name | ATP binding cassette subfamily C member 5 | |
| Synonyms | ABC33|EST277145|MOAT-C|MOATC|MRP5|SMRP|pABC11 | |
| Cytomap | 3q27.1 | |
| Type of gene | protein-coding | |
| Description | multidrug resistance-associated protein 5ATP-binding cassette, sub-family C (CFTR/MRP), member 5canalicular multispecific organic anion transporter Cmulti-specific organic anion transporter C | |
| Modification date | 20180523 | |
| UniProtAcc | O15440 | |
| Context | PubMed: ABCC5 [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 ABCC5 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 ABCC5 |
| 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 ABCC5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_390436 | 3 | 183643447:183643507:183645117:183645231:183646534:183646613 | 183645117:183645231 | ENSG00000114770.12 | ENST00000443497.1,ENST00000437205.1,ENST00000334444.6,ENST00000265586.6 |
| exon_skip_390440 | 3 | 183645117:183645231:183646534:183646613:183655688:183655848 | 183646534:183646613 | ENSG00000114770.12 | ENST00000443497.1,ENST00000437205.1,ENST00000334444.6,ENST00000265586.6 |
| exon_skip_390441 | 3 | 183646534:183646613:183655688:183655848:183660514:183660568 | 183655688:183655848 | ENSG00000114770.12 | ENST00000437205.1,ENST00000334444.6,ENST00000265586.6 |
| exon_skip_390443 | 3 | 183655688:183655848:183660220:183660303:183660514:183660568 | 183660220:183660303 | ENSG00000114770.12 | ENST00000443497.1 |
| exon_skip_390446 | 3 | 183655688:183655848:183660514:183660704:183663637:183663727 | 183660514:183660704 | ENSG00000114770.12 | ENST00000437205.1,ENST00000334444.6,ENST00000265586.6 |
| exon_skip_390449 | 3 | 183665111:183665298:183667540:183667669:183667759:183667913 | 183667540:183667669 | ENSG00000114770.12 | ENST00000437205.1,ENST00000334444.6 |
| exon_skip_390450 | 3 | 183670873:183671058:183677520:183677623:183679298:183679442 | 183677520:183677623 | ENSG00000114770.12 | ENST00000437205.1,ENST00000334444.6,ENST00000265586.6 |
| exon_skip_390451 | 3 | 183679298:183679442:183681172:183681376:183682972:183683045 | 183681172:183681376 | ENSG00000114770.12 | ENST00000437205.1,ENST00000334444.6,ENST00000265586.6 |
| exon_skip_390453 | 3 | 183699514:183699662:183700238:183700412:183700561:183700795 | 183700238:183700412 | ENSG00000114770.12 | ENST00000437205.1,ENST00000492216.1,ENST00000334444.6,ENST00000265586.6 |
| exon_skip_390469 | 3 | 183701972:183702682:183703091:183703166:183705557:183705705 | 183703091:183703166 | ENSG00000114770.12 | ENST00000382494.2 |
| exon_skip_390470 | 3 | 183701972:183702682:183703091:183703243:183705557:183705705 | 183703091:183703243 | ENSG00000114770.12 | ENST00000443376.1 |
| exon_skip_390482 | 3 | 183703091:183703166:183705557:183705705:183706359:183706515 | 183705557:183705705 | ENSG00000114770.12 | ENST00000382494.2 |
| exon_skip_390483 | 3 | 183706360:183706515:183707013:183707171:183732051:183732192 | 183707013:183707171 | ENSG00000114770.12 | ENST00000392579.2,ENST00000437205.1,ENST00000427120.2,ENST00000382494.2,ENST00000334444.6,ENST00000443376.1,ENST00000265586.6,ENST00000437341.1 |
| exon_skip_390486 | 3 | 183707013:183707171:183727676:183727765:183732051:183732192 | 183727676:183727765 | ENSG00000114770.12 | ENST00000438979.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ABCC5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_390436 | 3 | 183643447:183643507:183645117:183645231:183646534:183646613 | 183645117:183645231 | ENSG00000114770.12 | ENST00000334444.6,ENST00000437205.1,ENST00000265586.6,ENST00000443497.1 |
| exon_skip_390440 | 3 | 183645117:183645231:183646534:183646613:183655688:183655848 | 183646534:183646613 | ENSG00000114770.12 | ENST00000334444.6,ENST00000437205.1,ENST00000265586.6,ENST00000443497.1 |
| exon_skip_390441 | 3 | 183646534:183646613:183655688:183655848:183660514:183660568 | 183655688:183655848 | ENSG00000114770.12 | ENST00000334444.6,ENST00000437205.1,ENST00000265586.6 |
| exon_skip_390443 | 3 | 183655688:183655848:183660220:183660303:183660514:183660568 | 183660220:183660303 | ENSG00000114770.12 | ENST00000443497.1 |
| exon_skip_390446 | 3 | 183655688:183655848:183660514:183660704:183663637:183663727 | 183660514:183660704 | ENSG00000114770.12 | ENST00000334444.6,ENST00000437205.1,ENST00000265586.6 |
| exon_skip_390449 | 3 | 183665111:183665298:183667540:183667669:183667759:183667913 | 183667540:183667669 | ENSG00000114770.12 | ENST00000334444.6,ENST00000437205.1 |
| exon_skip_390450 | 3 | 183670873:183671058:183677520:183677623:183679298:183679442 | 183677520:183677623 | ENSG00000114770.12 | ENST00000334444.6,ENST00000437205.1,ENST00000265586.6 |
| exon_skip_390451 | 3 | 183679298:183679442:183681172:183681376:183682972:183683045 | 183681172:183681376 | ENSG00000114770.12 | ENST00000334444.6,ENST00000437205.1,ENST00000265586.6 |
| exon_skip_390453 | 3 | 183699514:183699662:183700238:183700412:183700561:183700795 | 183700238:183700412 | ENSG00000114770.12 | ENST00000334444.6,ENST00000437205.1,ENST00000265586.6,ENST00000492216.1 |
| exon_skip_390469 | 3 | 183701972:183702682:183703091:183703166:183705557:183705705 | 183703091:183703166 | ENSG00000114770.12 | ENST00000382494.2 |
| exon_skip_390470 | 3 | 183701972:183702682:183703091:183703243:183705557:183705705 | 183703091:183703243 | ENSG00000114770.12 | ENST00000443376.1 |
| exon_skip_390482 | 3 | 183703091:183703166:183705557:183705705:183706359:183706515 | 183705557:183705705 | ENSG00000114770.12 | ENST00000382494.2 |
| exon_skip_390483 | 3 | 183706360:183706515:183707013:183707171:183732051:183732192 | 183707013:183707171 | ENSG00000114770.12 | ENST00000334444.6,ENST00000437205.1,ENST00000265586.6,ENST00000427120.2,ENST00000443376.1,ENST00000392579.2,ENST00000382494.2,ENST00000437341.1 |
| exon_skip_390486 | 3 | 183707013:183707171:183727676:183727765:183732051:183732192 | 183727676:183727765 | ENSG00000114770.12 | ENST00000438979.2 |
| 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 ABCC5 |
| 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 |
| ENST00000334444 | 183646534 | 183646613 | Frame-shift |
| ENST00000334444 | 183655688 | 183655848 | Frame-shift |
| ENST00000334444 | 183660514 | 183660704 | Frame-shift |
| ENST00000334444 | 183677520 | 183677623 | Frame-shift |
| ENST00000334444 | 183707013 | 183707171 | Frame-shift |
| ENST00000334444 | 183645117 | 183645231 | In-frame |
| ENST00000334444 | 183667540 | 183667669 | In-frame |
| ENST00000334444 | 183681172 | 183681376 | In-frame |
| ENST00000334444 | 183700238 | 183700412 | 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 |
| ENST00000334444 | 183646534 | 183646613 | Frame-shift |
| ENST00000334444 | 183655688 | 183655848 | Frame-shift |
| ENST00000334444 | 183660514 | 183660704 | Frame-shift |
| ENST00000334444 | 183677520 | 183677623 | Frame-shift |
| ENST00000334444 | 183707013 | 183707171 | Frame-shift |
| ENST00000334444 | 183645117 | 183645231 | In-frame |
| ENST00000334444 | 183667540 | 183667669 | In-frame |
| ENST00000334444 | 183681172 | 183681376 | In-frame |
| ENST00000334444 | 183700238 | 183700412 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ABCC5 |
| 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 |
| ENST00000334444 | 5938 | 1437 | 183700238 | 183700412 | 1067 | 1240 | 275 | 333 |
| ENST00000334444 | 5938 | 1437 | 183681172 | 183681376 | 2273 | 2476 | 677 | 745 |
| ENST00000334444 | 5938 | 1437 | 183667540 | 183667669 | 3340 | 3468 | 1033 | 1075 |
| ENST00000334444 | 5938 | 1437 | 183645117 | 183645231 | 4175 | 4288 | 1311 | 1349 |
| 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 |
| ENST00000334444 | 5938 | 1437 | 183700238 | 183700412 | 1067 | 1240 | 275 | 333 |
| ENST00000334444 | 5938 | 1437 | 183681172 | 183681376 | 2273 | 2476 | 677 | 745 |
| ENST00000334444 | 5938 | 1437 | 183667540 | 183667669 | 3340 | 3468 | 1033 | 1075 |
| ENST00000334444 | 5938 | 1437 | 183645117 | 183645231 | 4175 | 4288 | 1311 | 1349 |
| 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 |
| 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 |
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SNVs in the skipped exons for ABCC5 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_390440 | 183646535 | 183646613 | 183646605 | 183646605 | Frame_Shift_Del | A | - | p.L1288fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_390446 | 183660515 | 183660704 | 183660540 | 183660540 | Frame_Shift_Del | A | - | p.I1223fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_390449 | 183667541 | 183667669 | 183667589 | 183667589 | Frame_Shift_Del | C | - | p.G1060fs |
| STAD | TCGA-BR-4201-01 | exon_skip_390450 | 183677521 | 183677623 | 183677573 | 183677577 | Frame_Shift_Del | CTTGT | - | p.D809fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_390451 | 183681173 | 183681376 | 183681184 | 183681184 | Frame_Shift_Del | G | - | p.H742fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_390453 | 183700239 | 183700412 | 183700260 | 183700260 | Frame_Shift_Del | A | - | p.F326fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_390483 | 183707014 | 183707171 | 183707031 | 183707031 | Frame_Shift_Del | G | - | p.P90fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_390450 | 183677521 | 183677623 | 183677609 | 183677610 | Frame_Shift_Ins | - | T | p.R798fs |
| UCEC | TCGA-AP-A056-01 | exon_skip_390441 | 183655689 | 183655848 | 183655744 | 183655744 | Nonsense_Mutation | G | A | p.R1267* |
| SKCM | TCGA-EB-A5FP-01 | exon_skip_390451 | 183681173 | 183681376 | 183681181 | 183681181 | Nonsense_Mutation | G | A | p.Q743* |
| READ | TCGA-AG-A002-01 | exon_skip_390482 | 183705558 | 183705705 | 183705647 | 183705647 | Nonsense_Mutation | G | A | p.R168X |
| BLCA | TCGA-DK-A6B2-01 | exon_skip_390482 | 183705558 | 183705705 | 183705701 | 183705701 | Nonsense_Mutation | C | A | p.E150* |
| - 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 |
| NCIH196_LUNG | 183681173 | 183681376 | 183681248 | 183681251 | Frame_Shift_Del | GCCC | - | p.VG719fs |
| TGBC11TKB_STOMACH | 183677521 | 183677623 | 183677609 | 183677610 | Frame_Shift_Ins | - | T | p.K798fs |
| NCIH520_LUNG | 183677521 | 183677623 | 183677589 | 183677594 | In_Frame_Del | TTCTGT | - | p.QK804del |
| HCC1569_BREAST | 183646535 | 183646613 | 183646587 | 183646587 | Missense_Mutation | T | C | p.Y1294C |
| HCC1569_BREAST | 183655689 | 183655848 | 183655804 | 183655804 | Missense_Mutation | A | T | p.S1247T |
| SNUC4_LARGE_INTESTINE | 183655689 | 183655848 | 183655818 | 183655818 | Missense_Mutation | C | T | p.R1242H |
| HT55_LARGE_INTESTINE | 183660515 | 183660704 | 183660524 | 183660524 | Missense_Mutation | T | C | p.T1229A |
| NCIH250_LUNG | 183660515 | 183660704 | 183660526 | 183660526 | Missense_Mutation | C | A | p.R1228L |
| SIHA_CERVIX | 183660515 | 183660704 | 183660623 | 183660623 | Missense_Mutation | C | G | p.E1196Q |
| NCIH2818_PLEURA | 183667541 | 183667669 | 183667563 | 183667563 | Missense_Mutation | T | G | p.K1069Q |
| MEWO_SKIN | 183667541 | 183667669 | 183667601 | 183667601 | Missense_Mutation | G | A | p.S1056F |
| C33A_CERVIX | 183667541 | 183667669 | 183667646 | 183667646 | Missense_Mutation | C | T | p.R1041H |
| D245MG_CENTRAL_NERVOUS_SYSTEM | 183681173 | 183681376 | 183681229 | 183681229 | Missense_Mutation | C | T | p.A727T |
| HEC59_ENDOMETRIUM | 183681173 | 183681376 | 183681258 | 183681258 | Missense_Mutation | G | A | p.A717V |
| SQ1_LUNG | 183681173 | 183681376 | 183681277 | 183681277 | Missense_Mutation | G | A | p.P711S |
| HCT116_LARGE_INTESTINE | 183700239 | 183700412 | 183700361 | 183700361 | Missense_Mutation | C | T | p.V293I |
| NCIH3122_LUNG | 183700239 | 183700412 | 183700378 | 183700378 | Missense_Mutation | A | G | p.M287T |
| EBC1_LUNG | 183705558 | 183705705 | 183705617 | 183705617 | Missense_Mutation | T | A | p.R178W |
| SNU1040_LARGE_INTESTINE | 183705558 | 183705705 | 183705622 | 183705622 | Missense_Mutation | C | T | p.R176H |
| HGC27_STOMACH | 183705558 | 183705705 | 183705695 | 183705695 | Missense_Mutation | G | T | p.L152M |
| C99_LARGE_INTESTINE | 183707014 | 183707171 | 183707027 | 183707027 | Missense_Mutation | G | A | p.R92W |
| NHAHTDD_CENTRAL_NERVOUS_SYSTEM | 183707014 | 183707171 | 183707081 | 183707081 | Missense_Mutation | C | T | p.E74K |
| RKO_LARGE_INTESTINE | 183707014 | 183707171 | 183707111 | 183707111 | Missense_Mutation | A | G | p.S64P |
| KNS62_LUNG | 183707014 | 183707171 | 183707132 | 183707132 | Missense_Mutation | C | G | p.E57Q |
| KMBC2_URINARY_TRACT | 183677521 | 183677623 | 183677551 | 183677551 | Nonsense_Mutation | T | A | p.K818* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABCC5 |
| 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_390446 | 3 | 183655688:183655848:183660514:183660704:183663637:183663727 | 183660514:183660704 | ENST00000437205.1,ENST00000334444.6,ENST00000265586.6 | LAML | rs3749442 | chr3:183660585 | G/A | 2.82e-04 |
| exon_skip_390446 | 3 | 183655688:183655848:183660514:183660704:183663637:183663727 | 183660514:183660704 | ENST00000437205.1,ENST00000334444.6,ENST00000265586.6 | KIRC | rs3749442 | chr3:183660585 | G/A | 3.34e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABCC5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABCC5 |
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RelatedDrugs for ABCC5 |
| 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 ABCC5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ABCC5 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| ABCC5 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| ABCC5 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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