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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 ANKRD12 |
 Gene summary |
| Gene information | Gene symbol | ANKRD12 | Gene ID | 23253 |
| Gene name | ankyrin repeat domain 12 | |
| Synonyms | ANCO-2|ANCO1|GAC-1|Nbla00144 | |
| Cytomap | 18p11.22 | |
| Type of gene | protein-coding | |
| Description | ankyrin repeat domain-containing protein 12ankyrin repeat-containing cofactor 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q6UB98 | |
| Context | PubMed: ANKRD12 [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 ANKRD12 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 ANKRD12 |
| 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 ANKRD12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_295568 | 18 | 9136836:9136963:9182379:9182517:9195548:9195595 | 9182379:9182517 | ENSG00000101745.11 | ENST00000262126.4,ENST00000581635.1,ENST00000383440.2,ENST00000540578.2 |
| exon_skip_295570 | 18 | 9182383:9182517:9195548:9195696:9204473:9204542 | 9195548:9195696 | ENSG00000101745.11 | ENST00000262126.4,ENST00000540578.2 |
| exon_skip_295571 | 18 | 9182383:9182517:9195548:9195696:9208654:9208741 | 9195548:9195696 | ENSG00000101745.11 | ENST00000400020.3,ENST00000546007.2,ENST00000383440.2 |
| exon_skip_295574 | 18 | 9195548:9195696:9200511:9200642:9208654:9208741 | 9200511:9200642 | ENSG00000101745.11 | ENST00000581635.1 |
| exon_skip_295575 | 18 | 9195548:9195696:9204473:9204542:9208654:9208741 | 9204473:9204542 | ENSG00000101745.11 | ENST00000262126.4,ENST00000540578.2 |
| exon_skip_295577 | 18 | 9211581:9211782:9216755:9216898:9221849:9221997 | 9216755:9216898 | ENSG00000101745.11 | ENST00000400020.3,ENST00000546007.2,ENST00000262126.4,ENST00000383440.2,ENST00000540578.2 |
| exon_skip_295578 | 18 | 9221849:9221997:9239474:9239554:9254208:9254271 | 9239474:9239554 | ENSG00000101745.11 | ENST00000359158.7 |
| exon_skip_295582 | 18 | 9221849:9221997:9254208:9258929:9263787:9263886 | 9254208:9258929 | ENSG00000101745.11 | ENST00000400020.3,ENST00000262126.4,ENST00000383440.2 |
| exon_skip_295584 | 18 | 9254208:9258929:9263787:9263886:9275521:9275665 | 9263787:9263886 | ENSG00000101745.11 | ENST00000400020.3,ENST00000262126.4,ENST00000383440.2 |
| exon_skip_295586 | 18 | 9263787:9263886:9275521:9275665:9279546:9279642 | 9275521:9275665 | ENSG00000101745.11 | ENST00000400020.3,ENST00000262126.4,ENST00000383440.2 |
| exon_skip_295587 | 18 | 9275521:9275665:9279546:9279642:9280938:9283757 | 9279546:9279642 | ENSG00000101745.11 | ENST00000400020.3,ENST00000262126.4,ENST00000383440.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ANKRD12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_295568 | 18 | 9136836:9136963:9182379:9182517:9195548:9195595 | 9182379:9182517 | ENSG00000101745.11 | ENST00000383440.2,ENST00000262126.4,ENST00000540578.2,ENST00000581635.1 |
| exon_skip_295570 | 18 | 9182383:9182517:9195548:9195696:9204473:9204542 | 9195548:9195696 | ENSG00000101745.11 | ENST00000262126.4,ENST00000540578.2 |
| exon_skip_295571 | 18 | 9182383:9182517:9195548:9195696:9208654:9208741 | 9195548:9195696 | ENSG00000101745.11 | ENST00000383440.2,ENST00000400020.3,ENST00000546007.2 |
| exon_skip_295575 | 18 | 9195548:9195696:9204473:9204542:9208654:9208741 | 9204473:9204542 | ENSG00000101745.11 | ENST00000262126.4,ENST00000540578.2 |
| exon_skip_295577 | 18 | 9211581:9211782:9216755:9216898:9221849:9221997 | 9216755:9216898 | ENSG00000101745.11 | ENST00000383440.2,ENST00000262126.4,ENST00000540578.2,ENST00000400020.3,ENST00000546007.2 |
| exon_skip_295578 | 18 | 9221849:9221997:9239474:9239554:9254208:9254271 | 9239474:9239554 | ENSG00000101745.11 | ENST00000359158.7 |
| exon_skip_295582 | 18 | 9221849:9221997:9254208:9258929:9263787:9263886 | 9254208:9258929 | ENSG00000101745.11 | ENST00000383440.2,ENST00000262126.4,ENST00000400020.3 |
| exon_skip_295584 | 18 | 9254208:9258929:9263787:9263886:9275521:9275665 | 9263787:9263886 | ENSG00000101745.11 | ENST00000383440.2,ENST00000262126.4,ENST00000400020.3 |
| exon_skip_295586 | 18 | 9263787:9263886:9275521:9275665:9279546:9279642 | 9275521:9275665 | ENSG00000101745.11 | ENST00000383440.2,ENST00000262126.4,ENST00000400020.3 |
| exon_skip_295587 | 18 | 9275521:9275665:9279546:9279642:9280938:9283757 | 9279546:9279642 | ENSG00000101745.11 | ENST00000383440.2,ENST00000262126.4,ENST00000400020.3 |
| 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 ANKRD12 |
| 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 |
| ENST00000262126 | 9182379 | 9182517 | 5CDS-5UTR |
| ENST00000262126 | 9195548 | 9195696 | Frame-shift |
| ENST00000262126 | 9216755 | 9216898 | Frame-shift |
| ENST00000262126 | 9254208 | 9258929 | Frame-shift |
| ENST00000262126 | 9204473 | 9204542 | In-frame |
| ENST00000262126 | 9263787 | 9263886 | In-frame |
| ENST00000262126 | 9275521 | 9275665 | In-frame |
| ENST00000262126 | 9279546 | 9279642 | 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 |
| ENST00000262126 | 9182379 | 9182517 | 5CDS-5UTR |
| ENST00000262126 | 9195548 | 9195696 | Frame-shift |
| ENST00000262126 | 9216755 | 9216898 | Frame-shift |
| ENST00000262126 | 9254208 | 9258929 | Frame-shift |
| ENST00000262126 | 9204473 | 9204542 | In-frame |
| ENST00000262126 | 9263787 | 9263886 | In-frame |
| ENST00000262126 | 9275521 | 9275665 | In-frame |
| ENST00000262126 | 9279546 | 9279642 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANKRD12 |
| 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 |
| ENST00000262126 | 11305 | 2062 | 9204473 | 9204542 | 476 | 544 | 78 | 101 |
| ENST00000262126 | 11305 | 2062 | 9263787 | 9263886 | 5905 | 6003 | 1888 | 1921 |
| ENST00000262126 | 11305 | 2062 | 9275521 | 9275665 | 6004 | 6147 | 1921 | 1969 |
| ENST00000262126 | 11305 | 2062 | 9279546 | 9279642 | 6148 | 6243 | 1969 | 2001 |
| 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 |
| ENST00000262126 | 11305 | 2062 | 9204473 | 9204542 | 476 | 544 | 78 | 101 |
| ENST00000262126 | 11305 | 2062 | 9263787 | 9263886 | 5905 | 6003 | 1888 | 1921 |
| ENST00000262126 | 11305 | 2062 | 9275521 | 9275665 | 6004 | 6147 | 1921 | 1969 |
| ENST00000262126 | 11305 | 2062 | 9279546 | 9279642 | 6148 | 6243 | 1969 | 2001 |
| 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 |
| Q6UB98 | 78 | 101 | 79 | 101 | Alternative sequence | ID=VSP_010901;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15184363,ECO:0000303|PubMed:17974005;Dbxref=PMID:15184363,PMID:17974005 |
| Q6UB98 | 78 | 101 | 1 | 2062 | Chain | ID=PRO_0000066908;Note=Ankyrin repeat domain-containing protein 12 |
| Q6UB98 | 1888 | 1921 | 1 | 2062 | Chain | ID=PRO_0000066908;Note=Ankyrin repeat domain-containing protein 12 |
| Q6UB98 | 1921 | 1969 | 1 | 2062 | Chain | ID=PRO_0000066908;Note=Ankyrin repeat domain-containing protein 12 |
| Q6UB98 | 1969 | 2001 | 1 | 2062 | Chain | ID=PRO_0000066908;Note=Ankyrin repeat domain-containing protein 12 |
| 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 |
| Q6UB98 | 78 | 101 | 79 | 101 | Alternative sequence | ID=VSP_010901;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15184363,ECO:0000303|PubMed:17974005;Dbxref=PMID:15184363,PMID:17974005 |
| Q6UB98 | 78 | 101 | 1 | 2062 | Chain | ID=PRO_0000066908;Note=Ankyrin repeat domain-containing protein 12 |
| Q6UB98 | 1888 | 1921 | 1 | 2062 | Chain | ID=PRO_0000066908;Note=Ankyrin repeat domain-containing protein 12 |
| Q6UB98 | 1921 | 1969 | 1 | 2062 | Chain | ID=PRO_0000066908;Note=Ankyrin repeat domain-containing protein 12 |
| Q6UB98 | 1969 | 2001 | 1 | 2062 | Chain | ID=PRO_0000066908;Note=Ankyrin repeat domain-containing protein 12 |
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SNVs in the skipped exons for ANKRD12 |
| - 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-A3A0-01 | exon_skip_295577 | 9216756 | 9216898 | 9216793 | 9216793 | Frame_Shift_Del | T | - | p.Y208fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295582 | 9254209 | 9258929 | 9254355 | 9254355 | Frame_Shift_Del | A | - | p.K341fs |
| KIRC | TCGA-B0-5706-01 | exon_skip_295582 | 9254209 | 9258929 | 9254423 | 9254423 | Frame_Shift_Del | A | - | p.R386fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_295582 | 9254209 | 9258929 | 9254634 | 9254634 | Frame_Shift_Del | A | - | p.K435fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_295582 | 9254209 | 9258929 | 9254634 | 9254634 | Frame_Shift_Del | A | - | p.K435fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295582 | 9254209 | 9258929 | 9254930 | 9254930 | Frame_Shift_Del | A | - | p.S532fs |
| BRCA | TCGA-A2-A1FZ-01 | exon_skip_295582 | 9254209 | 9258929 | 9255050 | 9255051 | Frame_Shift_Del | AA | - | p.S596fs |
| STAD | TCGA-BR-7851-01 | exon_skip_295582 | 9254209 | 9258929 | 9255247 | 9255247 | Frame_Shift_Del | A | - | p.E661fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_295582 | 9254209 | 9258929 | 9255261 | 9255261 | Frame_Shift_Del | A | - | p.K644fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295582 | 9254209 | 9258929 | 9255286 | 9255286 | Frame_Shift_Del | A | - | p.E651fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295582 | 9254209 | 9258929 | 9255348 | 9255348 | Frame_Shift_Del | T | - | p.F672fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_295582 | 9254209 | 9258929 | 9255348 | 9255348 | Frame_Shift_Del | T | - | p.F672fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295582 | 9254209 | 9258929 | 9255362 | 9255362 | Frame_Shift_Del | T | - | p.N676fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_295582 | 9254209 | 9258929 | 9255362 | 9255362 | Frame_Shift_Del | T | - | p.N676fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_295582 | 9254209 | 9258929 | 9255362 | 9255362 | Frame_Shift_Del | T | - | p.N699fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295582 | 9254209 | 9258929 | 9255369 | 9255369 | Frame_Shift_Del | A | - | p.K679fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_295582 | 9254209 | 9258929 | 9255393 | 9255393 | Frame_Shift_Del | T | - | p.F687fs |
| COAD | TCGA-AU-6004-01 | exon_skip_295582 | 9254209 | 9258929 | 9255427 | 9255427 | Frame_Shift_Del | A | - | p.E721fs |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_295582 | 9254209 | 9258929 | 9255427 | 9255427 | Frame_Shift_Del | A | - | p.E721fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295582 | 9254209 | 9258929 | 9255445 | 9255445 | Frame_Shift_Del | A | - | p.E704fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_295582 | 9254209 | 9258929 | 9255790 | 9255790 | Frame_Shift_Del | A | - | p.E819fs |
| BRCA | TCGA-BH-A0DK-01 | exon_skip_295582 | 9254209 | 9258929 | 9255963 | 9255964 | Frame_Shift_Del | AG | - | p.S903fs |
| KIRC | TCGA-BP-5185-01 | exon_skip_295582 | 9254209 | 9258929 | 9256041 | 9256042 | Frame_Shift_Del | AA | - | p.925_926del |
| KIRC | TCGA-BP-5185-01 | exon_skip_295582 | 9254209 | 9258929 | 9256041 | 9256042 | Frame_Shift_Del | AA | - | p.K903fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_295582 | 9254209 | 9258929 | 9256062 | 9256062 | Frame_Shift_Del | A | - | p.K911fs |
| BRCA | TCGA-A8-A09K-01 | exon_skip_295582 | 9254209 | 9258929 | 9256071 | 9256074 | Frame_Shift_Del | AAAC | - | p.K936fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_295582 | 9254209 | 9258929 | 9256143 | 9256143 | Frame_Shift_Del | A | - | p.K938fs |
| COAD | TCGA-AD-6889-01 | exon_skip_295582 | 9254209 | 9258929 | 9256207 | 9256207 | Frame_Shift_Del | A | - | p.E981fs |
| STAD | TCGA-BR-4256-01 | exon_skip_295582 | 9254209 | 9258929 | 9256207 | 9256207 | Frame_Shift_Del | A | - | p.E981fs |
| UCEC | TCGA-AP-A05N-01 | exon_skip_295582 | 9254209 | 9258929 | 9256207 | 9256207 | Frame_Shift_Del | A | - | p.E981fs |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_295582 | 9254209 | 9258929 | 9256207 | 9256207 | Frame_Shift_Del | A | - | p.E981fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_295582 | 9254209 | 9258929 | 9256551 | 9256551 | Frame_Shift_Del | A | - | p.K1074fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_295582 | 9254209 | 9258929 | 9256802 | 9256802 | Frame_Shift_Del | T | - | p.S1156fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295582 | 9254209 | 9258929 | 9257009 | 9257009 | Frame_Shift_Del | T | - | p.P1225fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_295582 | 9254209 | 9258929 | 9257212 | 9257212 | Frame_Shift_Del | T | - | p.I1293fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_295582 | 9254209 | 9258929 | 9257212 | 9257212 | Frame_Shift_Del | T | - | p.I1316fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_295582 | 9254209 | 9258929 | 9257212 | 9257212 | Frame_Shift_Del | T | - | p.I1293fs |
| BLCA | TCGA-YF-AA3M-01 | exon_skip_295582 | 9254209 | 9258929 | 9257318 | 9257318 | Frame_Shift_Del | C | - | p.F1351fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_295582 | 9254209 | 9258929 | 9257369 | 9257369 | Frame_Shift_Del | T | - | p.S1345fs |
| BRCA | TCGA-A8-A09M-01 | exon_skip_295582 | 9254209 | 9258929 | 9258366 | 9258369 | Frame_Shift_Del | CAGT | - | p.S1702fs |
| HNSC | TCGA-CR-7388-01 | exon_skip_295582 | 9254209 | 9258929 | 9258619 | 9258619 | Frame_Shift_Del | G | - | p.R1762fs |
| HNSC | TCGA-CR-7388-01 | exon_skip_295582 | 9254209 | 9258929 | 9258619 | 9258619 | Frame_Shift_Del | G | - | p.R1785fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295584 | 9263788 | 9263886 | 9263828 | 9263828 | Frame_Shift_Del | T | - | p.L1879fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_295584 | 9263788 | 9263886 | 9263828 | 9263828 | Frame_Shift_Del | T | - | p.L1879fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_295584 | 9263788 | 9263886 | 9263828 | 9263828 | Frame_Shift_Del | T | - | p.L1879fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_295586 | 9275522 | 9275665 | 9275595 | 9275595 | Frame_Shift_Del | A | - | p.Q1923fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295587 | 9279547 | 9279642 | 9279572 | 9279572 | Frame_Shift_Del | G | - | p.R1955fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_295587 | 9279547 | 9279642 | 9279634 | 9279634 | Frame_Shift_Del | A | - | p.D1998fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_295587 | 9279547 | 9279642 | 9279634 | 9279634 | Frame_Shift_Del | A | - | p.K1976fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295587 | 9279547 | 9279642 | 9279637 | 9279637 | Frame_Shift_Del | T | - | p.K1999fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_295587 | 9279547 | 9279642 | 9279637 | 9279637 | Frame_Shift_Del | T | - | p.L1977fs |
| STAD | TCGA-BR-8361-01 | exon_skip_295582 | 9254209 | 9258929 | 9254818 | 9254819 | Frame_Shift_Ins | - | G | p.E518fs |
| STAD | TCGA-BR-8361-01 | exon_skip_295582 | 9254209 | 9258929 | 9254819 | 9254820 | Frame_Shift_Ins | - | G | p.E518fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_295582 | 9254209 | 9258929 | 9255075 | 9255076 | Frame_Shift_Ins | - | A | p.E604fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_295582 | 9254209 | 9258929 | 9255075 | 9255076 | Frame_Shift_Ins | - | A | p.K581fs |
| STAD | TCGA-BR-8078-01 | exon_skip_295582 | 9254209 | 9258929 | 9255185 | 9255186 | Frame_Shift_Ins | - | A | p.L640fs |
| STAD | TCGA-BR-8078-01 | exon_skip_295582 | 9254209 | 9258929 | 9255186 | 9255187 | Frame_Shift_Ins | - | A | p.L640fs |
| LIHC | TCGA-WQ-A9G7-01 | exon_skip_295582 | 9254209 | 9258929 | 9255558 | 9255559 | Frame_Shift_Ins | - | A | p.E765fs |
| PAAD | TCGA-IB-7654-01 | exon_skip_295582 | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.EK909fs |
| COAD | TCGA-AU-6004-01 | exon_skip_295582 | 9254209 | 9258929 | 9256206 | 9256207 | Frame_Shift_Ins | - | A | p.E981fs |
| COAD | TCGA-AD-5900-01 | exon_skip_295582 | 9254209 | 9258929 | 9256311 | 9256312 | Frame_Shift_Ins | - | A | p.E1016fs |
| READ | TCGA-EI-6917-01 | exon_skip_295582 | 9254209 | 9258929 | 9256319 | 9256320 | Frame_Shift_Ins | - | A | p.D995fs |
| STAD | TCGA-CG-5733-01 | exon_skip_295582 | 9254209 | 9258929 | 9256550 | 9256551 | Frame_Shift_Ins | - | A | p.H1095fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_295582 | 9254209 | 9258929 | 9256772 | 9256773 | Frame_Shift_Ins | - | A | p.N1170fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_295582 | 9254209 | 9258929 | 9256772 | 9256773 | Frame_Shift_Ins | - | A | p.T1169fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_295582 | 9254209 | 9258929 | 9256772 | 9256773 | Frame_Shift_Ins | - | A | p.TK1146fs |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_295582 | 9254209 | 9258929 | 9254250 | 9254250 | Nonsense_Mutation | G | T | p.E329* |
| STAD | TCGA-CD-A4MG-01 | exon_skip_295582 | 9254209 | 9258929 | 9254421 | 9254421 | Nonsense_Mutation | C | T | p.R386* |
| STAD | TCGA-CD-A4MG-01 | exon_skip_295582 | 9254209 | 9258929 | 9254421 | 9254421 | Nonsense_Mutation | C | T | p.R386X |
| BLCA | TCGA-YF-AA3M-01 | exon_skip_295582 | 9254209 | 9258929 | 9254968 | 9254968 | Nonsense_Mutation | C | A | p.S568* |
| CESC | TCGA-C5-A1BQ-01 | exon_skip_295582 | 9254209 | 9258929 | 9255252 | 9255252 | Nonsense_Mutation | G | T | p.E663* |
| COAD | TCGA-D5-6540-01 | exon_skip_295582 | 9254209 | 9258929 | 9255369 | 9255369 | Nonsense_Mutation | A | T | p.K702X |
| CESC | TCGA-DS-A7WH-01 | exon_skip_295582 | 9254209 | 9258929 | 9255690 | 9255690 | Nonsense_Mutation | G | T | p.E809* |
| PAAD | TCGA-YB-A89D-01 | exon_skip_295582 | 9254209 | 9258929 | 9255889 | 9255889 | Nonsense_Mutation | C | A | p.S875X |
| LUAD | TCGA-55-8302-01 | exon_skip_295582 | 9254209 | 9258929 | 9255948 | 9255948 | Nonsense_Mutation | A | T | p.K872* |
| HNSC | TCGA-CV-7427-01 | exon_skip_295582 | 9254209 | 9258929 | 9256444 | 9256444 | Nonsense_Mutation | C | G | p.S1037* |
| HNSC | TCGA-CV-7427-01 | exon_skip_295582 | 9254209 | 9258929 | 9256444 | 9256444 | Nonsense_Mutation | C | G | p.S1060* |
| BLCA | TCGA-MV-A51V-01 | exon_skip_295582 | 9254209 | 9258929 | 9256539 | 9256539 | Nonsense_Mutation | G | T | p.E1092* |
| BLCA | TCGA-GC-A3OO-01 | exon_skip_295582 | 9254209 | 9258929 | 9256687 | 9256687 | Nonsense_Mutation | C | G | p.S1141* |
| BLCA | TCGA-XF-A9SL-01 | exon_skip_295582 | 9254209 | 9258929 | 9256978 | 9256978 | Nonsense_Mutation | C | G | p.S1238* |
| CESC | TCGA-C5-A1MH-01 | exon_skip_295582 | 9254209 | 9258929 | 9257110 | 9257110 | Nonsense_Mutation | C | G | p.S1259* |
| COAD | TCGA-AZ-4315-01 | exon_skip_295582 | 9254209 | 9258929 | 9257187 | 9257187 | Nonsense_Mutation | C | T | p.R1308X |
| READ | TCGA-AG-A002-01 | exon_skip_295582 | 9254209 | 9258929 | 9257187 | 9257187 | Nonsense_Mutation | C | T | p.R1285X |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_295582 | 9254209 | 9258929 | 9257187 | 9257187 | Nonsense_Mutation | C | T | p.R1308* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_295582 | 9254209 | 9258929 | 9257187 | 9257187 | Nonsense_Mutation | C | T | p.R1308* |
| BRCA | TCGA-EW-A1PB-01 | exon_skip_295582 | 9254209 | 9258929 | 9257247 | 9257247 | Nonsense_Mutation | G | T | p.E1328* |
| LUAD | TCGA-44-6145-01 | exon_skip_295582 | 9254209 | 9258929 | 9257679 | 9257679 | Nonsense_Mutation | G | T | p.E1449* |
| LUAD | TCGA-44-6145-01 | exon_skip_295582 | 9254209 | 9258929 | 9257679 | 9257679 | Nonsense_Mutation | G | T | p.E1472* |
| BLCA | TCGA-XF-A9SJ-01 | exon_skip_295582 | 9254209 | 9258929 | 9257772 | 9257772 | Nonsense_Mutation | G | T | p.E1503* |
| BLCA | TCGA-LT-A5Z6-01 | exon_skip_295582 | 9254209 | 9258929 | 9258381 | 9258381 | Nonsense_Mutation | G | T | p.E1706* |
| ESCA | TCGA-L5-A8NQ-01 | exon_skip_295582 | 9254209 | 9258929 | 9258879 | 9258879 | Nonsense_Mutation | G | T | p.G1872X |
| LUSC | TCGA-60-2698-01 | exon_skip_295584 | 9263788 | 9263886 | 9263833 | 9263833 | Nonsense_Mutation | C | T | p.R1904* |
| THYM | TCGA-4X-A9F9-01 | exon_skip_295571 exon_skip_295570 | 9195549 | 9195696 | 9195697 | 9195697 | Splice_Site | G | T | . |
| - 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 |
| WM793_SKIN | 9254209 | 9258929 | 9254259 | 9254268 | Frame_Shift_Del | GACTCTGAAA | - | p.DSET332fs |
| AN3CA_ENDOMETRIUM | 9254209 | 9258929 | 9255186 | 9255186 | Frame_Shift_Del | A | - | p.K642fs |
| LIM1215_LARGE_INTESTINE | 9254209 | 9258929 | 9255186 | 9255186 | Frame_Shift_Del | A | - | p.K642fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9255427 | 9255427 | Frame_Shift_Del | A | - | p.E721fs |
| NCIH1155_LUNG | 9254209 | 9258929 | 9255427 | 9255427 | Frame_Shift_Del | A | - | p.E721fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9255445 | 9255445 | Frame_Shift_Del | A | - | p.E727fs |
| OSC19_UPPER_AERODIGESTIVE_TRACT | 9254209 | 9258929 | 9255528 | 9255528 | Frame_Shift_Del | A | - | p.K756fs |
| SNU175_LARGE_INTESTINE | 9254209 | 9258929 | 9255948 | 9255948 | Frame_Shift_Del | A | - | p.K896fs |
| SNU1040_LARGE_INTESTINE | 9254209 | 9258929 | 9255948 | 9255948 | Frame_Shift_Del | A | - | p.K896fs |
| DV90_LUNG | 9254209 | 9258929 | 9256062 | 9256062 | Frame_Shift_Del | A | - | p.K934fs |
| CW2_LARGE_INTESTINE | 9254209 | 9258929 | 9256062 | 9256062 | Frame_Shift_Del | A | - | p.K934fs |
| HSC39_STOMACH | 9254209 | 9258929 | 9256062 | 9256062 | Frame_Shift_Del | A | - | p.K934fs |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9256207 | 9256207 | Frame_Shift_Del | A | - | p.E981fs |
| HEC59_ENDOMETRIUM | 9254209 | 9258929 | 9257009 | 9257009 | Frame_Shift_Del | T | - | p.P1248fs |
| FUOV1_OVARY | 9216756 | 9216898 | 9216794 | 9216795 | Frame_Shift_Ins | - | A | p.Y231fs |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9254504 | 9254505 | Frame_Shift_Ins | - | A | p.K414fs |
| NCIH441_LUNG | 9254209 | 9258929 | 9255075 | 9255076 | Frame_Shift_Ins | - | A | p.E604fs |
| NCIH69_LUNG | 9254209 | 9258929 | 9255075 | 9255076 | Frame_Shift_Ins | - | A | p.E604fs |
| SNU1040_LARGE_INTESTINE | 9254209 | 9258929 | 9255361 | 9255362 | Frame_Shift_Ins | - | T | p.NF699fs |
| BHT101_THYROID | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| CH157MN_CENTRAL_NERVOUS_SYSTEM | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| GCIY_STOMACH | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| HS274T_BREAST | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| LS180_LARGE_INTESTINE | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| NCIH1666_LUNG | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| NCIH2023_LUNG | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| NCIH716_LARGE_INTESTINE | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| NCIH854_LUNG | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| NIHOVCAR3_OVARY | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| SF295_CENTRAL_NERVOUS_SYSTEM | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| SNU1272_KIDNEY | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| TE9_OESOPHAGUS | 9254209 | 9258929 | 9256061 | 9256062 | Frame_Shift_Ins | - | A | p.K933fs |
| HEC1A_ENDOMETRIUM | 9254209 | 9258929 | 9256206 | 9256207 | Frame_Shift_Ins | - | A | p.E981fs |
| EN_ENDOMETRIUM | 9254209 | 9258929 | 9256206 | 9256207 | Frame_Shift_Ins | - | A | p.E981fs |
| IALM_LUNG | 9254209 | 9258929 | 9256269 | 9256270 | Frame_Shift_Ins | - | A | p.E1002fs |
| HEC151_ENDOMETRIUM | 9254209 | 9258929 | 9257835 | 9257836 | Frame_Shift_Ins | - | A | p.Q1524fs |
| LS411N_LARGE_INTESTINE | 9254209 | 9258929 | 9258794 | 9258795 | Frame_Shift_Ins | - | A | p.K1844fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9254209 | 9258929 | 9254928 | 9254930 | In_Frame_Del | TCA | - | p.S555del |
| PRECLH_PROSTATE | 9254209 | 9258929 | 9256323 | 9256328 | In_Frame_Del | AAAGAT | - | p.KD1022del |
| CJM_SKIN | 9254209 | 9258929 | 9258435 | 9258437 | In_Frame_Del | GAT | - | p.D1725del |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9182380 | 9182517 | 9182458 | 9182458 | Missense_Mutation | A | G | p.I10V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9182380 | 9182517 | 9182458 | 9182458 | Missense_Mutation | A | G | p.I10V |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9182380 | 9182517 | 9182486 | 9182486 | Missense_Mutation | G | A | p.S19N |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9182380 | 9182517 | 9182501 | 9182501 | Missense_Mutation | A | G | p.K24R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9182380 | 9182517 | 9182501 | 9182501 | Missense_Mutation | A | G | p.K24R |
| SNU81_LARGE_INTESTINE | 9195549 | 9195696 | 9195555 | 9195555 | Missense_Mutation | G | T | p.D32Y |
| HT115_LARGE_INTESTINE | 9195549 | 9195696 | 9195595 | 9195595 | Missense_Mutation | G | A | p.R45Q |
| SNU1040_LARGE_INTESTINE | 9195549 | 9195696 | 9195607 | 9195607 | Missense_Mutation | G | T | p.S49I |
| SNU1040_LARGE_INTESTINE | 9216756 | 9216898 | 9216797 | 9216797 | Missense_Mutation | G | A | p.D232N |
| WM983B_SKIN | 9254209 | 9258929 | 9254212 | 9254212 | Missense_Mutation | C | T | p.S316F |
| ESS1_ENDOMETRIUM | 9254209 | 9258929 | 9254457 | 9254457 | Missense_Mutation | T | G | p.L398V |
| HT115_LARGE_INTESTINE | 9254209 | 9258929 | 9254579 | 9254579 | Missense_Mutation | G | T | p.K438N |
| JHUEM7_ENDOMETRIUM | 9254209 | 9258929 | 9254587 | 9254587 | Missense_Mutation | C | A | p.T441N |
| SNU81_LARGE_INTESTINE | 9254209 | 9258929 | 9254692 | 9254692 | Missense_Mutation | T | G | p.L476W |
| SNU410_PANCREAS | 9254209 | 9258929 | 9254721 | 9254721 | Missense_Mutation | C | G | p.Q486E |
| NCIH2073_LUNG | 9254209 | 9258929 | 9254851 | 9254851 | Missense_Mutation | A | G | p.D529G |
| NCIH1993_LUNG | 9254209 | 9258929 | 9254851 | 9254851 | Missense_Mutation | A | G | p.D529G |
| KMH2_THYROID | 9254209 | 9258929 | 9254890 | 9254890 | Missense_Mutation | A | T | p.K542I |
| COGAR359_SOFT_TISSUE | 9254209 | 9258929 | 9254902 | 9254902 | Missense_Mutation | A | G | p.H546R |
| K5_THYROID | 9254209 | 9258929 | 9255009 | 9255009 | Missense_Mutation | C | G | p.R582G |
| NCIH1648_LUNG | 9254209 | 9258929 | 9255009 | 9255009 | Missense_Mutation | C | G | p.R582G |
| SNU719_STOMACH | 9254209 | 9258929 | 9255045 | 9255045 | Missense_Mutation | A | G | p.S594G |
| SNU175_LARGE_INTESTINE | 9254209 | 9258929 | 9255058 | 9255058 | Missense_Mutation | A | G | p.K598R |
| JHUEM7_ENDOMETRIUM | 9254209 | 9258929 | 9255213 | 9255213 | Missense_Mutation | T | G | p.L650V |
| GOTO_AUTONOMIC_GANGLIA | 9254209 | 9258929 | 9255222 | 9255222 | Missense_Mutation | C | A | p.H653N |
| HKA1_SKIN | 9254209 | 9258929 | 9255234 | 9255234 | Missense_Mutation | C | G | p.H657D |
| SNU1040_LARGE_INTESTINE | 9254209 | 9258929 | 9255279 | 9255279 | Missense_Mutation | G | A | p.E672K |
| AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9255327 | 9255327 | Missense_Mutation | A | T | p.S688C |
| HT115_LARGE_INTESTINE | 9254209 | 9258929 | 9255359 | 9255359 | Missense_Mutation | G | T | p.E698D |
| AN3CA_ENDOMETRIUM | 9254209 | 9258929 | 9255395 | 9255395 | Missense_Mutation | T | A | p.F710L |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9255445 | 9255445 | Missense_Mutation | A | G | p.E727G |
| HCC2998_LARGE_INTESTINE | 9254209 | 9258929 | 9255547 | 9255547 | Missense_Mutation | C | A | p.S761Y |
| JHH6_LIVER | 9254209 | 9258929 | 9255558 | 9255558 | Missense_Mutation | G | A | p.E765K |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9255558 | 9255558 | Missense_Mutation | G | A | p.E765K |
| CW2_LARGE_INTESTINE | 9254209 | 9258929 | 9255657 | 9255657 | Missense_Mutation | G | T | p.G798W |
| DOTC24510_CERVIX | 9254209 | 9258929 | 9255684 | 9255684 | Missense_Mutation | G | A | p.D807N |
| PCI15A_UPPER_AERODIGESTIVE_TRACT | 9254209 | 9258929 | 9255708 | 9255708 | Missense_Mutation | A | G | p.I815V |
| STS0421_SOFT_TISSUE | 9254209 | 9258929 | 9255831 | 9255831 | Missense_Mutation | G | T | p.D856Y |
| MDAMB361_BREAST | 9254209 | 9258929 | 9255832 | 9255832 | Missense_Mutation | A | G | p.D856G |
| SNUC2A_LARGE_INTESTINE | 9254209 | 9258929 | 9255958 | 9255958 | Missense_Mutation | A | G | p.D898G |
| SNUC2B_LARGE_INTESTINE | 9254209 | 9258929 | 9255958 | 9255958 | Missense_Mutation | A | G | p.D898G |
| KM12_LARGE_INTESTINE | 9254209 | 9258929 | 9255991 | 9255991 | Missense_Mutation | G | T | p.R909M |
| SCLC22H_LUNG | 9254209 | 9258929 | 9256192 | 9256192 | Missense_Mutation | A | T | p.K976I |
| SCLC21H_LUNG | 9254209 | 9258929 | 9256192 | 9256192 | Missense_Mutation | A | T | p.K976I |
| CAL33_UPPER_AERODIGESTIVE_TRACT | 9254209 | 9258929 | 9256387 | 9256387 | Missense_Mutation | G | A | p.S1041N |
| C32_SKIN | 9254209 | 9258929 | 9256429 | 9256429 | Missense_Mutation | A | G | p.K1055R |
| HUG1N_STOMACH | 9254209 | 9258929 | 9256456 | 9256456 | Missense_Mutation | G | A | p.R1064Q |
| LXF289_LUNG | 9254209 | 9258929 | 9256500 | 9256500 | Missense_Mutation | A | C | p.S1079R |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9256501 | 9256501 | Missense_Mutation | G | C | p.S1079T |
| PEO1_OVARY | 9254209 | 9258929 | 9256504 | 9256504 | Missense_Mutation | T | G | p.F1080C |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9256552 | 9256552 | Missense_Mutation | A | G | p.K1096R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9254209 | 9258929 | 9256552 | 9256552 | Missense_Mutation | A | G | p.K1096R |
| HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9256603 | 9256603 | Missense_Mutation | G | A | p.R1113Q |
| HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9256603 | 9256603 | Missense_Mutation | G | A | p.R1113Q |
| SKNBE2_AUTONOMIC_GANGLIA | 9254209 | 9258929 | 9256603 | 9256603 | Missense_Mutation | G | A | p.R1113Q |
| ECC10_STOMACH | 9254209 | 9258929 | 9256786 | 9256786 | Missense_Mutation | C | T | p.T1174I |
| SCH_STOMACH | 9254209 | 9258929 | 9256959 | 9256959 | Missense_Mutation | G | C | p.D1232H |
| KPNYS_AUTONOMIC_GANGLIA | 9254209 | 9258929 | 9257017 | 9257017 | Missense_Mutation | C | T | p.S1251L |
| KYSE140_OESOPHAGUS | 9254209 | 9258929 | 9257188 | 9257188 | Missense_Mutation | G | A | p.R1308Q |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9257346 | 9257346 | Missense_Mutation | A | C | p.N1361H |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9257416 | 9257416 | Missense_Mutation | C | T | p.A1384V |
| TTC1240_SOFT_TISSUE | 9254209 | 9258929 | 9257452 | 9257452 | Missense_Mutation | A | G | p.N1396S |
| OC316_OVARY | 9254209 | 9258929 | 9257526 | 9257526 | Missense_Mutation | A | G | p.M1421V |
| SNU81_LARGE_INTESTINE | 9254209 | 9258929 | 9257546 | 9257546 | Missense_Mutation | G | T | p.E1427D |
| NCIH2227_LUNG | 9254209 | 9258929 | 9257562 | 9257562 | Missense_Mutation | G | C | p.D1433H |
| EN_ENDOMETRIUM | 9254209 | 9258929 | 9257578 | 9257578 | Missense_Mutation | A | G | p.N1438S |
| SNU719_STOMACH | 9254209 | 9258929 | 9257653 | 9257653 | Missense_Mutation | C | T | p.A1463V |
| NCIH345_LUNG | 9254209 | 9258929 | 9257656 | 9257656 | Missense_Mutation | A | T | p.D1464V |
| CHL1_SKIN | 9254209 | 9258929 | 9257766 | 9257766 | Missense_Mutation | G | A | p.D1501N |
| HMCB_SKIN | 9254209 | 9258929 | 9257766 | 9257766 | Missense_Mutation | G | A | p.D1501N |
| HEC251_ENDOMETRIUM | 9254209 | 9258929 | 9257854 | 9257854 | Missense_Mutation | T | G | p.I1530S |
| D425_CENTRAL_NERVOUS_SYSTEM | 9254209 | 9258929 | 9257859 | 9257859 | Missense_Mutation | A | C | p.S1532R |
| D458_CENTRAL_NERVOUS_SYSTEM | 9254209 | 9258929 | 9257859 | 9257859 | Missense_Mutation | A | C | p.S1532R |
| LS180_LARGE_INTESTINE | 9254209 | 9258929 | 9257929 | 9257929 | Missense_Mutation | A | G | p.Q1555R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9257941 | 9257941 | Missense_Mutation | C | T | p.A1559V |
| NB13_AUTONOMIC_GANGLIA | 9254209 | 9258929 | 9257970 | 9257970 | Missense_Mutation | A | G | p.I1569V |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9258106 | 9258106 | Missense_Mutation | C | T | p.S1614F |
| NCIH187_LUNG | 9254209 | 9258929 | 9258117 | 9258117 | Missense_Mutation | G | A | p.E1618K |
| ASH3_THYROID | 9254209 | 9258929 | 9258415 | 9258415 | Missense_Mutation | A | T | p.E1717V |
| SW48_LARGE_INTESTINE | 9254209 | 9258929 | 9258430 | 9258430 | Missense_Mutation | C | T | p.A1722V |
| NCIH660_PROSTATE | 9254209 | 9258929 | 9258441 | 9258441 | Missense_Mutation | A | G | p.K1726E |
| NCIH446_LUNG | 9254209 | 9258929 | 9258451 | 9258451 | Missense_Mutation | A | T | p.N1729I |
| CAOV4_OVARY | 9254209 | 9258929 | 9258466 | 9258466 | Missense_Mutation | G | C | p.R1734T |
| HEC108_ENDOMETRIUM | 9254209 | 9258929 | 9258468 | 9258468 | Missense_Mutation | A | G | p.M1735V |
| HCC202_BREAST | 9254209 | 9258929 | 9258502 | 9258502 | Missense_Mutation | A | T | p.Q1746L |
| HCE4_OESOPHAGUS | 9254209 | 9258929 | 9258574 | 9258574 | Missense_Mutation | G | A | p.R1770K |
| NCIH510_LUNG | 9254209 | 9258929 | 9258580 | 9258580 | Missense_Mutation | G | T | p.R1772I |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9258619 | 9258619 | Missense_Mutation | G | A | p.R1785Q |
| ARH77_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9258637 | 9258637 | Missense_Mutation | G | A | p.R1791H |
| NCIH720_LUNG | 9254209 | 9258929 | 9258639 | 9258639 | Missense_Mutation | G | A | p.V1792I |
| MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9254209 | 9258929 | 9258643 | 9258643 | Missense_Mutation | C | G | p.P1793R |
| 786O_KIDNEY | 9263788 | 9263886 | 9263861 | 9263861 | Missense_Mutation | T | C | p.L1913P |
| MEWO_SKIN | 9279547 | 9279642 | 9279550 | 9279550 | Missense_Mutation | G | A | p.D1971N |
| HEC251_ENDOMETRIUM | 9254209 | 9258929 | 9255108 | 9255108 | Nonsense_Mutation | G | T | p.E615* |
| HCC2998_LARGE_INTESTINE | 9254209 | 9258929 | 9255849 | 9255849 | Nonsense_Mutation | G | T | p.E862* |
| SNU81_LARGE_INTESTINE | 9254209 | 9258929 | 9256674 | 9256674 | Nonsense_Mutation | G | T | p.E1137* |
| MHHNB11_AUTONOMIC_GANGLIA | 9254209 | 9258929 | 9257169 | 9257169 | Nonsense_Mutation | A | T | p.R1302* |
| SNU81_LARGE_INTESTINE | 9254209 | 9258929 | 9257187 | 9257187 | Nonsense_Mutation | C | T | p.R1308* |
| SW48_LARGE_INTESTINE | 9216756 | 9216898 | 9216756 | 9216756 | Splice_Site | G | A | p.G218D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKRD12 |
| 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_295574 | 18 | 9195548:9195696:9200511:9200642:9208654:9208741 | 9200511:9200642 | ENST00000581635.1 | BRCA | rs9304034 | chr18:9200614 | G/A | 4.24e-03 |
| exon_skip_295574 | 18 | 9195548:9195696:9200511:9200642:9208654:9208741 | 9200511:9200642 | ENST00000581635.1 | BRCA | rs9304033 | chr18:9200609 | C/T | 5.19e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD12 |
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RelatedDrugs for ANKRD12 |
| 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 ANKRD12 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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