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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 UBE3A |
 Gene summary |
| Gene information | Gene symbol | UBE3A | Gene ID | 7337 |
| Gene name | ubiquitin protein ligase E3A | |
| Synonyms | ANCR|AS|E6-AP|EPVE6AP|HPVE6A | |
| Cytomap | 15q11.2 | |
| Type of gene | protein-coding | |
| Description | ubiquitin-protein ligase E3ACTCL tumor antigen se37-2E6AP ubiquitin-protein ligaseHECT-type ubiquitin transferase E3Ahuman papilloma virus E6-associated proteinhuman papillomavirus E6-associated proteinoncogenic protein-associated protein E6-APrena | |
| Modification date | 20180523 | |
| UniProtAcc | Q05086 | |
| Context | PubMed: UBE3A [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 |
| UBE3A | GO:0031398 | positive regulation of protein ubiquitination | 17108031 |
| UBE3A | GO:0032570 | response to progesterone | 16772533 |
| UBE3A | GO:0050847 | progesterone receptor signaling pathway | 16772533 |
| UBE3A | GO:0051865 | protein autoubiquitination | 24105792 |
| UBE3A | GO:0070936 | protein K48-linked ubiquitination | 12890688 |
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Exon skipping events across known transcript of Ensembl for UBE3A 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 UBE3A |
| 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 UBE3A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125468 | 15 | 25584283:25584404:25585231:25585375:25599499:25599573 | 25585231:25585375 | ENSG00000114062.13 | ENST00000232165.3,ENST00000428984.2,ENST00000438097.1,ENST00000566215.1,ENST00000397954.2 |
| exon_skip_125476 | 15 | 25599499:25599573:25599674:25599830:25601038:25601128 | 25599674:25599830 | ENSG00000114062.13 | ENST00000232165.3,ENST00000428984.2,ENST00000438097.1,ENST00000566215.1,ENST00000397954.2,ENST00000604860.1 |
| exon_skip_125481 | 15 | 25599674:25599830:25601038:25601203:25601837:25601977 | 25601038:25601203 | ENSG00000114062.13 | ENST00000232165.3,ENST00000428984.2,ENST00000438097.1,ENST00000566215.1,ENST00000397954.2,ENST00000604860.1 |
| exon_skip_125483 | 15 | 25601038:25601203:25601837:25602043:25605529:25605674 | 25601837:25602043 | ENSG00000114062.13 | ENST00000232165.3,ENST00000428984.2,ENST00000438097.1,ENST00000566215.1,ENST00000397954.2 |
| exon_skip_125486 | 15 | 25605529:25605674:25615712:25616959:25620611:25620910 | 25615712:25616959 | ENSG00000114062.13 | ENST00000232165.3,ENST00000428984.2,ENST00000438097.1,ENST00000566215.1,ENST00000397954.2 |
| exon_skip_125490 | 15 | 25615712:25616959:25620611:25620910:25650607:25650649 | 25620611:25620910 | ENSG00000114062.13 | ENST00000232165.3,ENST00000428984.2,ENST00000438097.1,ENST00000566215.1,ENST00000397954.2 |
| exon_skip_125495 | 15 | 25650607:25650649:25652213:25652284:25653766:25653795 | 25652213:25652284 | ENSG00000114062.13 | ENST00000428984.2 |
| exon_skip_125506 | 15 | 25650607:25650649:25652213:25652409:25653718:25653831 | 25652213:25652409 | ENSG00000114062.13 | ENST00000566215.1 |
| exon_skip_125511 | 15 | 25650607:25650649:25654234:25654354:25657054:25657118 | 25654234:25654354 | ENSG00000114062.13 | ENST00000232165.3 |
| exon_skip_125520 | 15 | 25652213:25652409:25653718:25653831:25654234:25654354 | 25653718:25653831 | ENSG00000114062.13 | ENST00000566215.1 |
| exon_skip_125521 | 15 | 25654234:25654354:25657054:25657118:25683635:25683688 | 25657054:25657118 | ENSG00000114062.13 | ENST00000566215.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UBE3A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125468 | 15 | 25584283:25584404:25585231:25585375:25599499:25599573 | 25585231:25585375 | ENSG00000114062.13 | ENST00000232165.3,ENST00000438097.1,ENST00000566215.1,ENST00000397954.2,ENST00000428984.2 |
| exon_skip_125476 | 15 | 25599499:25599573:25599674:25599830:25601038:25601128 | 25599674:25599830 | ENSG00000114062.13 | ENST00000232165.3,ENST00000438097.1,ENST00000566215.1,ENST00000397954.2,ENST00000428984.2,ENST00000604860.1 |
| exon_skip_125481 | 15 | 25599674:25599830:25601038:25601203:25601837:25601977 | 25601038:25601203 | ENSG00000114062.13 | ENST00000232165.3,ENST00000438097.1,ENST00000566215.1,ENST00000397954.2,ENST00000428984.2,ENST00000604860.1 |
| exon_skip_125483 | 15 | 25601038:25601203:25601837:25602043:25605529:25605674 | 25601837:25602043 | ENSG00000114062.13 | ENST00000232165.3,ENST00000438097.1,ENST00000566215.1,ENST00000397954.2,ENST00000428984.2 |
| exon_skip_125486 | 15 | 25605529:25605674:25615712:25616959:25620611:25620910 | 25615712:25616959 | ENSG00000114062.13 | ENST00000232165.3,ENST00000438097.1,ENST00000566215.1,ENST00000397954.2,ENST00000428984.2 |
| exon_skip_125490 | 15 | 25615712:25616959:25620611:25620910:25650607:25650649 | 25620611:25620910 | ENSG00000114062.13 | ENST00000232165.3,ENST00000438097.1,ENST00000566215.1,ENST00000397954.2,ENST00000428984.2 |
| exon_skip_125495 | 15 | 25650607:25650649:25652213:25652284:25653766:25653795 | 25652213:25652284 | ENSG00000114062.13 | ENST00000428984.2 |
| exon_skip_125506 | 15 | 25650607:25650649:25652213:25652409:25653718:25653831 | 25652213:25652409 | ENSG00000114062.13 | ENST00000566215.1 |
| exon_skip_125511 | 15 | 25650607:25650649:25654234:25654354:25657054:25657118 | 25654234:25654354 | ENSG00000114062.13 | ENST00000232165.3 |
| exon_skip_125520 | 15 | 25652213:25652409:25653718:25653831:25654234:25654354 | 25653718:25653831 | ENSG00000114062.13 | ENST00000566215.1 |
| exon_skip_125521 | 15 | 25654234:25654354:25657054:25657118:25683635:25683688 | 25657054:25657118 | ENSG00000114062.13 | ENST00000566215.1 |
| 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 UBE3A |
| 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 |
| ENST00000397954 | 25601837 | 25602043 | Frame-shift |
| ENST00000397954 | 25615712 | 25616959 | Frame-shift |
| ENST00000397954 | 25620611 | 25620910 | Frame-shift |
| ENST00000397954 | 25585231 | 25585375 | In-frame |
| ENST00000397954 | 25599674 | 25599830 | In-frame |
| ENST00000397954 | 25601038 | 25601203 | 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 |
| ENST00000397954 | 25601837 | 25602043 | Frame-shift |
| ENST00000397954 | 25615712 | 25616959 | Frame-shift |
| ENST00000397954 | 25620611 | 25620910 | Frame-shift |
| ENST00000397954 | 25585231 | 25585375 | In-frame |
| ENST00000397954 | 25599674 | 25599830 | In-frame |
| ENST00000397954 | 25601038 | 25601203 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UBE3A |
| 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 |
| ENST00000397954 | 2645 | 875 | 25601038 | 25601203 | 1969 | 2133 | 656 | 711 |
| ENST00000397954 | 2645 | 875 | 25599674 | 25599830 | 2134 | 2289 | 711 | 763 |
| ENST00000397954 | 2645 | 875 | 25585231 | 25585375 | 2364 | 2507 | 788 | 835 |
| 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 |
| ENST00000397954 | 2645 | 875 | 25601038 | 25601203 | 1969 | 2133 | 656 | 711 |
| ENST00000397954 | 2645 | 875 | 25599674 | 25599830 | 2134 | 2289 | 711 | 763 |
| ENST00000397954 | 2645 | 875 | 25585231 | 25585375 | 2364 | 2507 | 788 | 835 |
| 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 UBE3A |
| - 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. |
UBE3A_BRCA_exon_skip_125468_psi_boxplot.png |
UBE3A_COAD_exon_skip_125468_psi_boxplot.png |
UBE3A_LIHC_exon_skip_125468_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-G3-A3CJ-01 | exon_skip_125468 | 25585232 | 25585375 | 25585250 | 25585250 | Frame_Shift_Del | T | - | p.N827fs |
| BRCA | TCGA-E9-A249-01 | exon_skip_125468 | 25585232 | 25585375 | 25585293 | 25585303 | Frame_Shift_Del | GTGCTCTGTCT | - | p.D813fs |
| CHOL | TCGA-W5-AA38-01 | exon_skip_125476 | 25599675 | 25599830 | 25599825 | 25599825 | Frame_Shift_Del | A | - | p.F710fs |
| CHOL | TCGA-W5-AA38-01 | exon_skip_125476 | 25599675 | 25599830 | 25599825 | 25599825 | Frame_Shift_Del | A | - | p.V714fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_125486 | 25615713 | 25616959 | 25615930 | 25615930 | Frame_Shift_Del | A | - | p.F464fs |
| UCEC | TCGA-BG-A0MG-01 | exon_skip_125486 | 25615713 | 25616959 | 25616198 | 25616198 | Frame_Shift_Del | C | - | p.V378fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_125486 | 25615713 | 25616959 | 25616576 | 25616576 | Frame_Shift_Del | T | - | p.I249fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_125486 | 25615713 | 25616959 | 25616576 | 25616576 | Frame_Shift_Del | T | - | p.I249fs |
| SARC | TCGA-3B-A9HT-01 | exon_skip_125481 | 25601039 | 25601203 | 25601107 | 25601108 | Frame_Shift_Ins | - | A | p.G688fs |
| SARC | TCGA-3B-A9HT-01 | exon_skip_125481 | 25601039 | 25601203 | 25601107 | 25601108 | Frame_Shift_Ins | - | A | p.L*685fs |
| COAD | TCGA-CM-6171-01 | exon_skip_125468 | 25585232 | 25585375 | 25585287 | 25585287 | Nonsense_Mutation | C | A | p.G815X |
| COAD | TCGA-D5-6532-01 | exon_skip_125481 | 25601039 | 25601203 | 25601194 | 25601194 | Nonsense_Mutation | G | A | p.Q657X |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_125486 | 25615713 | 25616959 | 25615955 | 25615955 | Nonsense_Mutation | C | A | p.E459* |
| LUSC | TCGA-39-5027-01 | exon_skip_125486 | 25615713 | 25616959 | 25616072 | 25616072 | Nonsense_Mutation | T | A | p.K420* |
| COAD | TCGA-A6-5665-01 | exon_skip_125486 | 25615713 | 25616959 | 25616652 | 25616652 | Nonsense_Mutation | T | - | p.L204X |
| COAD | TCGA-AD-6901-01 | exon_skip_125486 | 25615713 | 25616959 | 25616657 | 25616657 | Nonsense_Mutation | G | A | p.Q222X |
| BLCA | TCGA-FD-A3SO-01 | exon_skip_125486 | 25615713 | 25616959 | 25616710 | 25616710 | Nonsense_Mutation | G | C | p.S204* |
| BLCA | TCGA-FD-A3SO-01 | exon_skip_125486 | 25615713 | 25616959 | 25616710 | 25616710 | Nonsense_Mutation | G | C | p.S207* |
| LUAD | TCGA-69-7765-01 | exon_skip_125486 | 25615713 | 25616959 | 25616900 | 25616900 | Nonsense_Mutation | C | A | p.E141* |
| LUAD | TCGA-69-7765-01 | exon_skip_125486 | 25615713 | 25616959 | 25616900 | 25616900 | Nonsense_Mutation | C | A | p.E144* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-E9-A249-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_125468 | |
| Skipped exon start: 25585232 | |
| Skipped exon end: 25585375 | |
| Mutation start: 25585293 | |
| Mutation end: 25585303 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GTGCTCTGTCT | |
| Mutation seq: - | |
| AAchange: p.D813fs | |
exon_skip_125468_BRCA_TCGA-E9-A249-01.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 |
| MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25601039 | 25601203 | 25601156 | 25601157 | Frame_Shift_Del | CA | - | p.V672fs |
| DV90_LUNG | 25601838 | 25602043 | 25601871 | 25601871 | Frame_Shift_Del | T | - | p.K645fs |
| SNUC4_LARGE_INTESTINE | 25601838 | 25602043 | 25601871 | 25601871 | Frame_Shift_Del | T | - | p.K645fs |
| EN_ENDOMETRIUM | 25601838 | 25602043 | 25601871 | 25601871 | Frame_Shift_Del | T | - | p.K645fs |
| DU145_PROSTATE | 25615713 | 25616959 | 25616048 | 25616048 | Frame_Shift_Del | G | - | p.L428fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 25615713 | 25616959 | 25616502 | 25616503 | Frame_Shift_Ins | - | AC | p.V276fs |
| SW1353_BONE | 25615713 | 25616959 | 25616575 | 25616576 | Frame_Shift_Ins | - | T | p.I252fs |
| TE14_OESOPHAGUS | 25615713 | 25616959 | 25616575 | 25616576 | Frame_Shift_Ins | - | T | p.I252fs |
| SNGM_ENDOMETRIUM | 25585232 | 25585375 | 25585307 | 25585307 | Missense_Mutation | C | T | p.G811D |
| HEC6_ENDOMETRIUM | 25585232 | 25585375 | 25585317 | 25585317 | Missense_Mutation | A | G | p.F808L |
| DU4475_BREAST | 25585232 | 25585375 | 25585328 | 25585328 | Missense_Mutation | A | T | p.L804H |
| HCC827GR5_LUNG | 25599675 | 25599830 | 25599692 | 25599692 | Missense_Mutation | G | A | p.L758F |
| HCC827_LUNG | 25599675 | 25599830 | 25599692 | 25599692 | Missense_Mutation | G | A | p.L758F |
| LNCAPCLONEFGC_PROSTATE | 25599675 | 25599830 | 25599747 | 25599747 | Missense_Mutation | C | T | p.M739I |
| U2OS_BONE | 25599675 | 25599830 | 25599763 | 25599763 | Missense_Mutation | C | T | p.R734Q |
| JHUEM7_ENDOMETRIUM | 25599675 | 25599830 | 25599764 | 25599764 | Missense_Mutation | G | A | p.R734W |
| GP2D_LARGE_INTESTINE | 25599675 | 25599830 | 25599780 | 25599780 | Missense_Mutation | T | G | p.K728N |
| GP5D_LARGE_INTESTINE | 25599675 | 25599830 | 25599780 | 25599780 | Missense_Mutation | T | G | p.K728N |
| HS936T_SKIN | 25601039 | 25601203 | 25601065 | 25601065 | Missense_Mutation | T | A | p.I703F |
| LS411N_LARGE_INTESTINE | 25601039 | 25601203 | 25601166 | 25601166 | Missense_Mutation | T | C | p.E669G |
| YD10B_UPPER_AERODIGESTIVE_TRACT | 25601039 | 25601203 | 25601192 | 25601192 | Missense_Mutation | C | A | p.Q660H |
| CAL148_BREAST | 25601039 | 25601203 | 25601192 | 25601192 | Missense_Mutation | C | G | p.Q660H |
| HEC6_ENDOMETRIUM | 25601039 | 25601203 | 25601196 | 25601196 | Missense_Mutation | T | C | p.Y659C |
| NCIH1930_LUNG | 25601838 | 25602043 | 25601867 | 25601867 | Missense_Mutation | T | C | p.T647A |
| NCIH1573_LUNG | 25601838 | 25602043 | 25601948 | 25601948 | Missense_Mutation | C | A | p.G620C |
| SNU1040_LARGE_INTESTINE | 25615713 | 25616959 | 25615715 | 25615715 | Missense_Mutation | G | A | p.R539W |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25615713 | 25616959 | 25615745 | 25615745 | Missense_Mutation | G | A | p.R529C |
| HEC59_ENDOMETRIUM | 25615713 | 25616959 | 25615751 | 25615751 | Missense_Mutation | C | G | p.V527L |
| SNU1040_LARGE_INTESTINE | 25615713 | 25616959 | 25615831 | 25615831 | Missense_Mutation | C | T | p.R500H |
| HCC2998_LARGE_INTESTINE | 25615713 | 25616959 | 25615832 | 25615832 | Missense_Mutation | G | A | p.R500C |
| SF767_CENTRAL_NERVOUS_SYSTEM | 25615713 | 25616959 | 25615922 | 25615922 | Missense_Mutation | C | G | p.E470Q |
| LNCAPCLONEFGC_PROSTATE | 25615713 | 25616959 | 25615986 | 25615986 | Missense_Mutation | C | A | p.E448D |
| CAL51_BREAST | 25615713 | 25616959 | 25616066 | 25616066 | Missense_Mutation | C | A | p.G422C |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25615713 | 25616959 | 25616125 | 25616125 | Missense_Mutation | G | T | p.P402H |
| HCC2108_LUNG | 25615713 | 25616959 | 25616147 | 25616147 | Missense_Mutation | C | T | p.E395K |
| MORCPR_LUNG | 25615713 | 25616959 | 25616147 | 25616147 | Missense_Mutation | C | T | p.E395K |
| SNU738_CENTRAL_NERVOUS_SYSTEM | 25615713 | 25616959 | 25616242 | 25616242 | Missense_Mutation | T | C | p.N363S |
| HEC251_ENDOMETRIUM | 25615713 | 25616959 | 25616254 | 25616254 | Missense_Mutation | C | T | p.R359Q |
| HCC2998_LARGE_INTESTINE | 25615713 | 25616959 | 25616263 | 25616263 | Missense_Mutation | A | C | p.F356C |
| NCIH2196_LUNG | 25615713 | 25616959 | 25616269 | 25616269 | Missense_Mutation | T | C | p.N354S |
| HT115_LARGE_INTESTINE | 25615713 | 25616959 | 25616321 | 25616321 | Missense_Mutation | G | A | p.R337W |
| NCIH2172_LUNG | 25615713 | 25616959 | 25616375 | 25616375 | Missense_Mutation | C | A | p.A319S |
| MDAMB453_BREAST | 25615713 | 25616959 | 25616381 | 25616381 | Missense_Mutation | G | A | p.P317S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25615713 | 25616959 | 25616448 | 25616448 | Missense_Mutation | T | A | p.R294S |
| JHUEM7_ENDOMETRIUM | 25615713 | 25616959 | 25616449 | 25616449 | Missense_Mutation | C | A | p.R294I |
| HEC108_ENDOMETRIUM | 25615713 | 25616959 | 25616455 | 25616455 | Missense_Mutation | T | A | p.E292V |
| KPL1_BREAST | 25615713 | 25616959 | 25616515 | 25616515 | Missense_Mutation | G | A | p.T272M |
| LNCAPCLONEFGC_PROSTATE | 25615713 | 25616959 | 25616629 | 25616629 | Missense_Mutation | A | G | p.V234A |
| HEC108_ENDOMETRIUM | 25615713 | 25616959 | 25616633 | 25616633 | Missense_Mutation | A | T | p.S233T |
| SKNAS_AUTONOMIC_GANGLIA | 25615713 | 25616959 | 25616664 | 25616664 | Missense_Mutation | G | T | p.N222K |
| NCIH82_LUNG | 25615713 | 25616959 | 25616678 | 25616678 | Missense_Mutation | A | T | p.S218T |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25615713 | 25616959 | 25616688 | 25616688 | Missense_Mutation | T | C | p.I214M |
| MM127_SKIN | 25615713 | 25616959 | 25616698 | 25616698 | Missense_Mutation | G | A | p.S211F |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 25615713 | 25616959 | 25616721 | 25616721 | Missense_Mutation | C | T | p.M203I |
| LNCAPCLONEFGC_PROSTATE | 25615713 | 25616959 | 25616783 | 25616783 | Missense_Mutation | C | T | p.A183T |
| NCIH2110_LUNG | 25615713 | 25616959 | 25616841 | 25616841 | Missense_Mutation | C | A | p.L163F |
| UPCISCC152_UPPER_AERODIGESTIVE_TRACT | 25615713 | 25616959 | 25616872 | 25616872 | Missense_Mutation | A | C | p.I153S |
| SCC90_UPPER_AERODIGESTIVE_TRACT | 25615713 | 25616959 | 25616872 | 25616872 | Missense_Mutation | A | C | p.I153S |
| SNU1040_LARGE_INTESTINE | 25620612 | 25620910 | 25620630 | 25620630 | Missense_Mutation | C | T | p.A118T |
| SNU1076_UPPER_AERODIGESTIVE_TRACT | 25620612 | 25620910 | 25620657 | 25620657 | Missense_Mutation | A | G | p.S109P |
| SLR24_KIDNEY | 25620612 | 25620910 | 25620677 | 25620677 | Missense_Mutation | C | T | p.G102D |
| SISO_CERVIX | 25620612 | 25620910 | 25620764 | 25620764 | Missense_Mutation | A | G | p.L73P |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25620612 | 25620910 | 25620764 | 25620764 | Missense_Mutation | A | G | p.L73P |
| SNU1040_LARGE_INTESTINE | 25620612 | 25620910 | 25620792 | 25620792 | Missense_Mutation | C | T | p.D64N |
| JAR_PLACENTA | 25620612 | 25620910 | 25620797 | 25620797 | Missense_Mutation | C | T | p.R62H |
| HEC251_ENDOMETRIUM | 25620612 | 25620910 | 25620878 | 25620878 | Missense_Mutation | C | T | p.R35H |
| SNU1040_LARGE_INTESTINE | 25653719 | 25653831 | 25653779 | 25653779 | Missense_Mutation | T | C | p.Q6R |
| SNUC5_LARGE_INTESTINE | 25585232 | 25585375 | 25585320 | 25585320 | Nonsense_Mutation | G | A | p.Q807* |
| NIHOVCAR3_OVARY | 25601039 | 25601203 | 25601050 | 25601050 | Nonsense_Mutation | C | A | p.E708* |
| NCIH2009_LUNG | 25601039 | 25601203 | 25601194 | 25601194 | Nonsense_Mutation | G | A | p.Q660* |
| NCIH2882_LUNG | 25615713 | 25616959 | 25616177 | 25616177 | Nonsense_Mutation | C | A | p.G385* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBE3A |
| 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 UBE3A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBE3A |
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RelatedDrugs for UBE3A |
| 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 UBE3A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| UBE3A | C0004352 | Autistic Disorder | 3 | CTD_human;HPO |
| UBE3A | C0014544 | Epilepsy | 1 | CTD_human;HPO |
| UBE3A | C0162635 | Angelman Syndrome | 1 | CTD_human |
| UBE3A | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
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