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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 ABCA13 |
 Gene summary |
| Gene information | Gene symbol | ABCA13 | Gene ID | 154664 |
| Gene name | ATP binding cassette subfamily A member 13 | |
| Synonyms | - | |
| Cytomap | 7p12.3 | |
| Type of gene | protein-coding | |
| Description | ATP-binding cassette sub-family A member 13ATP binding cassette transporter A13ATP-binding cassette sub-family A member 13 variant 2ATP-binding cassette sub-family A member 13 variant 3ATP-binding cassette, sub-family A (ABC1), member 13 | |
| Modification date | 20180523 | |
| UniProtAcc | Q86UQ4 | |
| Context | PubMed: ABCA13 [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 ABCA13 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 ABCA13 |
| 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 ABCA13 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_466141 | 7 | 48258950:48259102:48260877:48260906:48266858:48267022 | 48260877:48260906 | ENSG00000179869.10 | ENST00000435803.1,ENST00000417403.1 |
| exon_skip_466142 | 7 | 48273614:48273748:48278837:48279002:48280463:48280663 | 48278837:48279002 | ENSG00000179869.10 | ENST00000435803.1 |
| exon_skip_466143 | 7 | 48280463:48280663:48282584:48282681:48284172:48284300 | 48282584:48282681 | ENSG00000179869.10 | ENST00000417403.1 |
| exon_skip_466144 | 7 | 48391777:48392084:48407390:48407505:48411764:48412094 | 48407390:48407505 | ENSG00000179869.10 | ENST00000484268.1,ENST00000435803.1 |
| exon_skip_466145 | 7 | 48407390:48407505:48411764:48412094:48413943:48414013 | 48411764:48412094 | ENSG00000179869.10 | ENST00000484268.1,ENST00000435803.1 |
| exon_skip_466146 | 7 | 48416038:48416169:48427418:48427556:48428636:48428817 | 48427418:48427556 | ENSG00000179869.10 | ENST00000484268.1,ENST00000453246.1,ENST00000435803.1 |
| exon_skip_466148 | 7 | 48443279:48443476:48450116:48450274:48451949:48452180 | 48450116:48450274 | ENSG00000179869.10 | ENST00000453246.1,ENST00000435803.1 |
| exon_skip_466150 | 7 | 48494659:48494883:48506552:48506642:48511126:48511196 | 48506552:48506642 | ENSG00000179869.10 | ENST00000453246.1,ENST00000435803.1 |
| exon_skip_466151 | 7 | 48511126:48511196:48520632:48520751:48522672:48522760 | 48520632:48520751 | ENSG00000179869.10 | ENST00000544596.1,ENST00000411975.1,ENST00000453246.1,ENST00000435803.1 |
| exon_skip_466154 | 7 | 48522672:48522760:48528832:48528941:48545931:48545986 | 48528832:48528941 | ENSG00000179869.10 | ENST00000544596.1,ENST00000411975.1,ENST00000453246.1,ENST00000435803.1 |
| exon_skip_466162 | 7 | 48545931:48545986:48547467:48547645:48550679:48550795 | 48547467:48547645 | ENSG00000179869.10 | ENST00000544596.1,ENST00000411975.1,ENST00000453246.1,ENST00000435803.1 |
| exon_skip_466163 | 7 | 48556320:48556477:48559636:48559890:48563843:48564036 | 48559636:48559890 | ENSG00000179869.10 | ENST00000544596.1,ENST00000411975.1,ENST00000453246.1,ENST00000435803.1 |
| exon_skip_466165 | 7 | 48567831:48567941:48619819:48619970:48626749:48626884 | 48619819:48619970 | ENSG00000179869.10 | ENST00000544596.1,ENST00000411975.1,ENST00000453246.1,ENST00000435803.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ABCA13 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_466142 | 7 | 48273614:48273748:48278837:48279002:48280463:48280663 | 48278837:48279002 | ENSG00000179869.10 | ENST00000435803.1 |
| exon_skip_466144 | 7 | 48391777:48392084:48407390:48407505:48411764:48412094 | 48407390:48407505 | ENSG00000179869.10 | ENST00000435803.1,ENST00000484268.1 |
| exon_skip_466146 | 7 | 48416038:48416169:48427418:48427556:48428636:48428817 | 48427418:48427556 | ENSG00000179869.10 | ENST00000435803.1,ENST00000484268.1,ENST00000453246.1 |
| exon_skip_466148 | 7 | 48443279:48443476:48450116:48450274:48451949:48452180 | 48450116:48450274 | ENSG00000179869.10 | ENST00000435803.1,ENST00000453246.1 |
| exon_skip_466150 | 7 | 48494659:48494883:48506552:48506642:48511126:48511196 | 48506552:48506642 | ENSG00000179869.10 | ENST00000435803.1,ENST00000453246.1 |
| exon_skip_466151 | 7 | 48511126:48511196:48520632:48520751:48522672:48522760 | 48520632:48520751 | ENSG00000179869.10 | ENST00000435803.1,ENST00000453246.1,ENST00000411975.1,ENST00000544596.1 |
| exon_skip_466154 | 7 | 48522672:48522760:48528832:48528941:48545931:48545986 | 48528832:48528941 | ENSG00000179869.10 | ENST00000435803.1,ENST00000453246.1,ENST00000411975.1,ENST00000544596.1 |
| exon_skip_466162 | 7 | 48545931:48545986:48547467:48547645:48550679:48550795 | 48547467:48547645 | ENSG00000179869.10 | ENST00000435803.1,ENST00000453246.1,ENST00000411975.1,ENST00000544596.1 |
| exon_skip_466163 | 7 | 48556320:48556477:48559636:48559890:48563843:48564036 | 48559636:48559890 | ENSG00000179869.10 | ENST00000435803.1,ENST00000453246.1,ENST00000411975.1,ENST00000544596.1 |
| exon_skip_466165 | 7 | 48567831:48567941:48619819:48619970:48626749:48626884 | 48619819:48619970 | ENSG00000179869.10 | ENST00000435803.1,ENST00000453246.1,ENST00000411975.1,ENST00000544596.1 |
| 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 ABCA13 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for ABCA13 |
| 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 |
| 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 |
| 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 ABCA13 |
| - 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. |
ABCA13_ESCA_exon_skip_466151_psi_boxplot.png |
| - 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-A3A0-01 | exon_skip_466142 | 48278838 | 48279002 | 48278955 | 48278955 | Frame_Shift_Del | A | - | p.K339fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_466144 | 48407391 | 48407505 | 48407413 | 48407413 | Frame_Shift_Del | T | - | p.F3572fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_466145 | 48411765 | 48412094 | 48411972 | 48411972 | Frame_Shift_Del | T | - | p.F3672fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_466146 | 48427419 | 48427556 | 48427483 | 48427483 | Frame_Shift_Del | T | - | p.G3800fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_466150 | 48506553 | 48506642 | 48506557 | 48506557 | Frame_Shift_Del | G | - | p.G4275fs |
| LUAD | TCGA-75-5122-01 | exon_skip_466162 | 48547468 | 48547645 | 48547627 | 48547627 | Frame_Shift_Del | A | - | p.T4502fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_466163 | 48559637 | 48559890 | 48559680 | 48559680 | Frame_Shift_Del | T | - | p.I4614fs |
| COAD | TCGA-DM-A282-01 | exon_skip_466141 | 48260878 | 48260906 | 48260896 | 48260897 | Frame_Shift_Ins | - | T | p.S153fs |
| COAD | TCGA-G4-6310-01 | exon_skip_466141 | 48260878 | 48260906 | 48260896 | 48260897 | Frame_Shift_Ins | - | T | p.S153fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_466141 | 48260878 | 48260906 | 48260896 | 48260897 | Frame_Shift_Ins | - | T | p.S153fs |
| PRAD | TCGA-V1-A9Z7-01 | exon_skip_466145 | 48411765 | 48412094 | 48411971 | 48411972 | Frame_Shift_Ins | - | T | p.AF3670fs |
| HNSC | TCGA-BB-4224-01 | exon_skip_466145 | 48411765 | 48412094 | 48411940 | 48411940 | Nonsense_Mutation | C | G | p.S3660* |
| UCEC | TCGA-D1-A16J-01 | exon_skip_466146 | 48427419 | 48427556 | 48427493 | 48427493 | Nonsense_Mutation | G | T | p.E3804* |
| UCEC | TCGA-D1-A103-01 | exon_skip_466146 | 48427419 | 48427556 | 48427540 | 48427540 | Nonsense_Mutation | G | T | p.E85* |
| LGG | TCGA-HT-7854-01 | exon_skip_466150 | 48506553 | 48506642 | 48506641 | 48506641 | Nonsense_Mutation | C | T | p.Q4302X |
| ESCA | TCGA-IG-A4P3-01 | exon_skip_466151 | 48520633 | 48520751 | 48520703 | 48520703 | Nonsense_Mutation | C | G | p.S4349* |
| ESCA | TCGA-IG-A4P3-01 | exon_skip_466151 | 48520633 | 48520751 | 48520703 | 48520703 | Nonsense_Mutation | C | G | p.S4349X |
| HNSC | TCGA-WA-A7GZ-01 | exon_skip_466163 | 48559637 | 48559890 | 48559723 | 48559723 | Nonsense_Mutation | C | A | p.C4628* |
| LIHC | TCGA-FV-A496-01 | exon_skip_466163 | 48559637 | 48559890 | 48559880 | 48559880 | Nonsense_Mutation | C | T | p.R4681X |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_466165 | 48619820 | 48619970 | 48619871 | 48619871 | Nonsense_Mutation | C | A | p.Y4802* |
| ESCA | TCGA-JY-A93D-01 | exon_skip_466165 | 48619820 | 48619970 | 48619925 | 48619925 | Nonsense_Mutation | T | G | p.Y4820* |
| ESCA | TCGA-JY-A93D-01 | exon_skip_466165 | 48619820 | 48619970 | 48619925 | 48619925 | Nonsense_Mutation | T | G | p.Y4820X |
| LIHC | TCGA-UB-A7MB-01 | exon_skip_466163 | 48559637 | 48559890 | 48559635 | 48559635 | Splice_Site | A | T | . |
| LUSC | TCGA-18-3409-01 | exon_skip_466163 | 48559637 | 48559890 | 48559636 | 48559636 | Splice_Site | G | A | p.N4600_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IG-A4P3-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_466151 | |
| Skipped exon start: 48520633 | |
| Skipped exon end: 48520751 | |
| Mutation start: 48520703 | |
| Mutation end: 48520703 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: p.S4349X | |
| Sample: TCGA-IG-A4P3-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_466151 | |
| Skipped exon start: 48520633 | |
| Skipped exon end: 48520751 | |
| Mutation start: 48520703 | |
| Mutation end: 48520703 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: p.S4349* | |
exon_skip_466151_ESCA_TCGA-IG-A4P3-01.png | |
| - 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 |
| LOVO_LARGE_INTESTINE | 48260878 | 48260906 | 48260897 | 48260897 | Frame_Shift_Del | T | - | p.S153fs |
| L33_PANCREAS | 48278838 | 48279002 | 48278854 | 48278854 | Frame_Shift_Del | C | - | p.S305fs |
| LS411N_LARGE_INTESTINE | 48547468 | 48547645 | 48547601 | 48547602 | Frame_Shift_Ins | - | T | p.L4494fs |
| PK45H_PANCREAS | 48278838 | 48279002 | 48278913 | 48278913 | Missense_Mutation | T | C | p.W325R |
| KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48278838 | 48279002 | 48278992 | 48278992 | Missense_Mutation | T | A | p.V351D |
| HS936T_SKIN | 48407391 | 48407505 | 48407419 | 48407419 | Missense_Mutation | C | T | p.P3573S |
| C2BBE1_LARGE_INTESTINE | 48407391 | 48407505 | 48407468 | 48407468 | Missense_Mutation | G | T | p.R3589I |
| GA10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48407391 | 48407505 | 48407482 | 48407482 | Missense_Mutation | G | A | p.E3594K |
| SNU1040_LARGE_INTESTINE | 48407391 | 48407505 | 48407492 | 48407492 | Missense_Mutation | T | C | p.I3597T |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48411765 | 48412094 | 48411768 | 48411768 | Missense_Mutation | A | G | p.M3603V |
| CCK81_LARGE_INTESTINE | 48411765 | 48412094 | 48411827 | 48411827 | Missense_Mutation | G | T | p.M3622I |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48411765 | 48412094 | 48411859 | 48411859 | Missense_Mutation | C | T | p.A3633V |
| JHH7_LIVER | 48411765 | 48412094 | 48411873 | 48411873 | Missense_Mutation | A | C | p.T3638P |
| MKN28_STOMACH | 48411765 | 48412094 | 48411879 | 48411879 | Missense_Mutation | G | A | p.G3640S |
| SW48_LARGE_INTESTINE | 48411765 | 48412094 | 48411880 | 48411880 | Missense_Mutation | G | A | p.G3640D |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48411765 | 48412094 | 48411888 | 48411888 | Missense_Mutation | G | A | p.A3643T |
| NCIH1703_LUNG | 48411765 | 48412094 | 48411934 | 48411934 | Missense_Mutation | G | C | p.G3658A |
| CHL1_SKIN | 48411765 | 48412094 | 48411938 | 48411938 | Missense_Mutation | G | A | p.M3659I |
| HMCB_SKIN | 48411765 | 48412094 | 48411938 | 48411938 | Missense_Mutation | G | A | p.M3659I |
| LS411N_LARGE_INTESTINE | 48411765 | 48412094 | 48411952 | 48411952 | Missense_Mutation | T | C | p.L3664P |
| RL952_ENDOMETRIUM | 48411765 | 48412094 | 48411970 | 48411970 | Missense_Mutation | C | T | p.A3670V |
| NCIH1436_LUNG | 48411765 | 48412094 | 48411994 | 48411994 | Missense_Mutation | C | T | p.A3678V |
| HT1197_URINARY_TRACT | 48411765 | 48412094 | 48412032 | 48412032 | Missense_Mutation | C | A | p.L3691M |
| RERFLCFM_LUNG | 48427419 | 48427556 | 48427521 | 48427521 | Missense_Mutation | G | A | p.S3813N |
| HEC6_ENDOMETRIUM | 48450117 | 48450274 | 48450182 | 48450182 | Missense_Mutation | G | A | p.V4046I |
| NBTU110_AUTONOMIC_GANGLIA | 48450117 | 48450274 | 48450182 | 48450182 | Missense_Mutation | G | A | p.V4046I |
| SNUC5_LARGE_INTESTINE | 48506553 | 48506642 | 48506635 | 48506635 | Missense_Mutation | C | A | p.P4300T |
| U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48520633 | 48520751 | 48520646 | 48520646 | Missense_Mutation | G | A | p.R4330K |
| SW684_SOFT_TISSUE | 48528833 | 48528941 | 48528857 | 48528857 | Missense_Mutation | C | T | p.H4403Y |
| NCIH1836_LUNG | 48528833 | 48528941 | 48528867 | 48528867 | Missense_Mutation | C | T | p.P4406L |
| A375_SKIN | 48547468 | 48547645 | 48547490 | 48547490 | Missense_Mutation | G | A | p.G4457R |
| M00921_SKIN | 48547468 | 48547645 | 48547490 | 48547490 | Missense_Mutation | G | A | p.G4457R |
| C33A_CERVIX | 48547468 | 48547645 | 48547512 | 48547512 | Missense_Mutation | T | C | p.L4464P |
| NOS1_BONE | 48547468 | 48547645 | 48547518 | 48547518 | Missense_Mutation | T | C | p.F4466S |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48547468 | 48547645 | 48547541 | 48547541 | Missense_Mutation | G | A | p.G4474S |
| MCC142_SKIN | 48547468 | 48547645 | 48547589 | 48547589 | Missense_Mutation | C | A | p.H4490N |
| KYSE450_OESOPHAGUS | 48547468 | 48547645 | 48547589 | 48547589 | Missense_Mutation | C | G | p.H4490D |
| NCIH1568_LUNG | 48559637 | 48559890 | 48559645 | 48559645 | Missense_Mutation | G | T | p.Q4602H |
| CW2_LARGE_INTESTINE | 48559637 | 48559890 | 48559690 | 48559690 | Missense_Mutation | A | T | p.Q4617H |
| RH36_SOFT_TISSUE | 48559637 | 48559890 | 48559757 | 48559757 | Missense_Mutation | T | G | p.F4640V |
| NCIH1155_LUNG | 48559637 | 48559890 | 48559775 | 48559775 | Missense_Mutation | G | A | p.V4646M |
| NCIH630_LARGE_INTESTINE | 48559637 | 48559890 | 48559823 | 48559823 | Missense_Mutation | G | A | p.A4662T |
| C125PM_LARGE_INTESTINE | 48559637 | 48559890 | 48559842 | 48559842 | Missense_Mutation | T | G | p.L4668R |
| LS513_LARGE_INTESTINE | 48559637 | 48559890 | 48559842 | 48559842 | Missense_Mutation | T | G | p.L4668R |
| NCIH446_LUNG | 48559637 | 48559890 | 48559878 | 48559878 | Missense_Mutation | T | A | p.L4680Q |
| TE4_OESOPHAGUS | 48619820 | 48619970 | 48619824 | 48619824 | Missense_Mutation | G | A | p.A4787T |
| LS411N_LARGE_INTESTINE | 48619820 | 48619970 | 48619825 | 48619825 | Missense_Mutation | C | T | p.A4787V |
| HCC2998_LARGE_INTESTINE | 48619820 | 48619970 | 48619849 | 48619849 | Missense_Mutation | C | T | p.T4795M |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48619820 | 48619970 | 48619849 | 48619849 | Missense_Mutation | C | T | p.T4795M |
| SNU407_LARGE_INTESTINE | 48619820 | 48619970 | 48619851 | 48619851 | Missense_Mutation | G | A | p.A4796T |
| NCIH1339_LUNG | 48619820 | 48619970 | 48619852 | 48619852 | Missense_Mutation | C | A | p.A4796E |
| SCLC22H_LUNG | 48619820 | 48619970 | 48619936 | 48619936 | Missense_Mutation | G | T | p.S4824I |
| BFTC905_URINARY_TRACT | 48619820 | 48619970 | 48619957 | 48619957 | Missense_Mutation | A | T | p.Q4831L |
| COLO783_SKIN | 48528833 | 48528941 | 48528931 | 48528931 | Nonsense_Mutation | G | A | p.W4427* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABCA13 |
| 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 ABCA13 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABCA13 |
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RelatedDrugs for ABCA13 |
| 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 ABCA13 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ABCA13 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| ABCA13 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| ABCA13 | C0036341 | Schizophrenia | 1 | PSYGENET |
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