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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 BAIAP2L1 |
 Gene summary |
| Gene information | Gene symbol | BAIAP2L1 | Gene ID | 55971 |
| Gene name | BAI1 associated protein 2 like 1 | |
| Synonyms | IRTKS | |
| Cytomap | 7q21.3-q22.1 | |
| Type of gene | protein-coding | |
| Description | brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1BAI1-associated protein 2-like protein 1insulin receptor tyrosine kinase substrate | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UHR4 | |
| Context | PubMed: BAIAP2L1 [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 |
| BAIAP2L1 | GO:0009617 | response to bacterium | 19366662 |
| BAIAP2L1 | GO:0030838 | positive regulation of actin filament polymerization | 21098279 |
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Exon skipping events across known transcript of Ensembl for BAIAP2L1 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 BAIAP2L1 |
| 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 BAIAP2L1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_477454 | 7 | 97920962:97922908:97923385:97923423:97933507:97933677 | 97923385:97923423 | ENSG00000006453.9 | ENST00000005260.8 |
| exon_skip_477456 | 7 | 97923385:97923423:97933507:97933688:97935750:97935825 | 97933507:97933688 | ENSG00000006453.9 | ENST00000005260.8 |
| exon_skip_477461 | 7 | 97937000:97937208:97939756:97939904:97941408:97941576 | 97939756:97939904 | ENSG00000006453.9 | ENST00000005260.8 |
| exon_skip_477466 | 7 | 97939756:97939904:97941408:97941576:97944771:97944924 | 97941408:97941576 | ENSG00000006453.9 | ENST00000005260.8,ENST00000462558.1 |
| exon_skip_477471 | 7 | 97941411:97941576:97944771:97944924:97946530:97946668 | 97944771:97944924 | ENSG00000006453.9 | ENST00000005260.8,ENST00000462558.1 |
| exon_skip_477472 | 7 | 97944771:97944924:97946530:97946668:97949369:97949441 | 97946530:97946668 | ENSG00000006453.9 | ENST00000005260.8,ENST00000462558.1 |
| exon_skip_477474 | 7 | 97946548:97946668:97949369:97949441:97949548:97949610 | 97949369:97949441 | ENSG00000006453.9 | ENST00000005260.8,ENST00000473569.1,ENST00000462558.1 |
| exon_skip_477481 | 7 | 97949369:97949441:97949548:97949610:97984353:97984440 | 97949548:97949610 | ENSG00000006453.9 | ENST00000005260.8,ENST00000473569.1,ENST00000462558.1 |
| exon_skip_477486 | 7 | 97949548:97949610:97984353:97984440:97991668:97991744 | 97984353:97984440 | ENSG00000006453.9 | ENST00000005260.8,ENST00000462558.1 |
| exon_skip_477489 | 7 | 97984353:97984440:97991668:97991744:98030113:98030380 | 97991668:97991744 | ENSG00000006453.9 | ENST00000462558.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BAIAP2L1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_477454 | 7 | 97920962:97922908:97923385:97923423:97933507:97933677 | 97923385:97923423 | ENSG00000006453.9 | ENST00000005260.8 |
| exon_skip_477456 | 7 | 97923385:97923423:97933507:97933688:97935750:97935825 | 97933507:97933688 | ENSG00000006453.9 | ENST00000005260.8 |
| exon_skip_477461 | 7 | 97937000:97937208:97939756:97939904:97941408:97941576 | 97939756:97939904 | ENSG00000006453.9 | ENST00000005260.8 |
| exon_skip_477466 | 7 | 97939756:97939904:97941408:97941576:97944771:97944924 | 97941408:97941576 | ENSG00000006453.9 | ENST00000005260.8,ENST00000462558.1 |
| exon_skip_477472 | 7 | 97944771:97944924:97946530:97946668:97949369:97949441 | 97946530:97946668 | ENSG00000006453.9 | ENST00000005260.8,ENST00000462558.1 |
| exon_skip_477481 | 7 | 97949369:97949441:97949548:97949610:97984353:97984440 | 97949548:97949610 | ENSG00000006453.9 | ENST00000005260.8,ENST00000462558.1,ENST00000473569.1 |
| exon_skip_477486 | 7 | 97949548:97949610:97984353:97984440:97991668:97991744 | 97984353:97984440 | ENSG00000006453.9 | ENST00000005260.8,ENST00000462558.1 |
| 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 BAIAP2L1 |
| 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 |
| ENST00000005260 | 97923385 | 97923423 | Frame-shift |
| ENST00000005260 | 97933507 | 97933688 | Frame-shift |
| ENST00000005260 | 97939756 | 97939904 | Frame-shift |
| ENST00000005260 | 97949548 | 97949610 | Frame-shift |
| ENST00000005260 | 97941408 | 97941576 | In-frame |
| ENST00000005260 | 97944771 | 97944924 | In-frame |
| ENST00000005260 | 97946530 | 97946668 | In-frame |
| ENST00000005260 | 97949369 | 97949441 | In-frame |
| ENST00000005260 | 97984353 | 97984440 | 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 |
| ENST00000005260 | 97923385 | 97923423 | Frame-shift |
| ENST00000005260 | 97933507 | 97933688 | Frame-shift |
| ENST00000005260 | 97939756 | 97939904 | Frame-shift |
| ENST00000005260 | 97949548 | 97949610 | Frame-shift |
| ENST00000005260 | 97941408 | 97941576 | In-frame |
| ENST00000005260 | 97946530 | 97946668 | In-frame |
| ENST00000005260 | 97984353 | 97984440 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BAIAP2L1 |
| 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 |
| ENST00000005260 | 3639 | 511 | 97984353 | 97984440 | 344 | 430 | 42 | 71 |
| ENST00000005260 | 3639 | 511 | 97949369 | 97949441 | 493 | 564 | 92 | 116 |
| ENST00000005260 | 3639 | 511 | 97946530 | 97946668 | 565 | 702 | 116 | 162 |
| ENST00000005260 | 3639 | 511 | 97944771 | 97944924 | 703 | 855 | 162 | 213 |
| ENST00000005260 | 3639 | 511 | 97941408 | 97941576 | 856 | 1023 | 213 | 269 |
| 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 |
| ENST00000005260 | 3639 | 511 | 97984353 | 97984440 | 344 | 430 | 42 | 71 |
| ENST00000005260 | 3639 | 511 | 97946530 | 97946668 | 565 | 702 | 116 | 162 |
| ENST00000005260 | 3639 | 511 | 97941408 | 97941576 | 856 | 1023 | 213 | 269 |
| 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 |
| Q9UHR4 | 42 | 71 | 1 | 511 | Chain | ID=PRO_0000247854;Note=Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 |
| Q9UHR4 | 42 | 71 | 1 | 249 | Domain | Note=IMD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00668 |
| Q9UHR4 | 92 | 116 | 1 | 511 | Chain | ID=PRO_0000247854;Note=Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 |
| Q9UHR4 | 92 | 116 | 115 | 154 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UHR4 | 92 | 116 | 1 | 249 | Domain | Note=IMD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00668 |
| Q9UHR4 | 116 | 162 | 1 | 511 | Chain | ID=PRO_0000247854;Note=Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 |
| Q9UHR4 | 116 | 162 | 115 | 154 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UHR4 | 116 | 162 | 1 | 249 | Domain | Note=IMD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00668 |
| Q9UHR4 | 116 | 162 | 141 | 141 | Mutagenesis | Note=Loss ability to induce the formation of actin clusters%3B when associated with K-142%3B R-145 and K-146. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17430976;Dbxref=PMID:17430976 |
| Q9UHR4 | 116 | 162 | 142 | 142 | Mutagenesis | Note=Loss ability to induce the formation of actin clusters%3B when associated with K-141%3B R-145 and K-146. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17430976;Dbxref=PMID:17430976 |
| Q9UHR4 | 116 | 162 | 145 | 145 | Mutagenesis | Note=Loss ability to induce the formation of actin clusters%3B when associated with K-141%3B K-142 and K-146. R->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17430976;Dbxref=PMID:17430976 |
| Q9UHR4 | 116 | 162 | 146 | 146 | Mutagenesis | Note=Loss ability to induce the formation of actin clusters%3B when associated with K-141%3B K-142 and R-145. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17430976;Dbxref=PMID:17430976 |
| Q9UHR4 | 162 | 213 | 1 | 511 | Chain | ID=PRO_0000247854;Note=Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 |
| Q9UHR4 | 162 | 213 | 1 | 249 | Domain | Note=IMD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00668 |
| Q9UHR4 | 213 | 269 | 1 | 511 | Chain | ID=PRO_0000247854;Note=Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 |
| Q9UHR4 | 213 | 269 | 1 | 249 | Domain | Note=IMD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00668 |
| Q9UHR4 | 213 | 269 | 248 | 248 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 |
| Q9UHR4 | 213 | 269 | 257 | 257 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 |
| Q9UHR4 | 213 | 269 | 261 | 261 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:20068231,PMID |
| 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 |
| Q9UHR4 | 42 | 71 | 1 | 511 | Chain | ID=PRO_0000247854;Note=Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 |
| Q9UHR4 | 42 | 71 | 1 | 249 | Domain | Note=IMD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00668 |
| Q9UHR4 | 116 | 162 | 1 | 511 | Chain | ID=PRO_0000247854;Note=Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 |
| Q9UHR4 | 116 | 162 | 115 | 154 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9UHR4 | 116 | 162 | 1 | 249 | Domain | Note=IMD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00668 |
| Q9UHR4 | 116 | 162 | 141 | 141 | Mutagenesis | Note=Loss ability to induce the formation of actin clusters%3B when associated with K-142%3B R-145 and K-146. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17430976;Dbxref=PMID:17430976 |
| Q9UHR4 | 116 | 162 | 142 | 142 | Mutagenesis | Note=Loss ability to induce the formation of actin clusters%3B when associated with K-141%3B R-145 and K-146. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17430976;Dbxref=PMID:17430976 |
| Q9UHR4 | 116 | 162 | 145 | 145 | Mutagenesis | Note=Loss ability to induce the formation of actin clusters%3B when associated with K-141%3B K-142 and K-146. R->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17430976;Dbxref=PMID:17430976 |
| Q9UHR4 | 116 | 162 | 146 | 146 | Mutagenesis | Note=Loss ability to induce the formation of actin clusters%3B when associated with K-141%3B K-142 and R-145. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17430976;Dbxref=PMID:17430976 |
| Q9UHR4 | 213 | 269 | 1 | 511 | Chain | ID=PRO_0000247854;Note=Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 |
| Q9UHR4 | 213 | 269 | 1 | 249 | Domain | Note=IMD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00668 |
| Q9UHR4 | 213 | 269 | 248 | 248 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 |
| Q9UHR4 | 213 | 269 | 257 | 257 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 |
| Q9UHR4 | 213 | 269 | 261 | 261 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:20068231,PMID |
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SNVs in the skipped exons for BAIAP2L1 |
| - 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 |
| COAD | TCGA-AA-3663-01 | exon_skip_477456 | 97933508 | 97933688 | 97933623 | 97933623 | Frame_Shift_Del | G | - | p.P436fs |
| COAD | TCGA-F4-6570-01 | exon_skip_477456 | 97933508 | 97933688 | 97933623 | 97933623 | Frame_Shift_Del | G | - | p.P436fs |
| COAD | TCGA-G4-6586-01 | exon_skip_477456 | 97933508 | 97933688 | 97933623 | 97933623 | Frame_Shift_Del | G | - | p.P436fs |
| COAD | TCGA-G4-6588-01 | exon_skip_477456 | 97933508 | 97933688 | 97933623 | 97933623 | Frame_Shift_Del | G | - | p.P436fs |
| COAD | TCGA-F4-6570-01 | exon_skip_477461 | 97939757 | 97939904 | 97939854 | 97939854 | Frame_Shift_Del | G | - | p.A287fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_477461 | 97939757 | 97939904 | 97939854 | 97939854 | Frame_Shift_Del | G | - | p.A287fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_477461 | 97939757 | 97939904 | 97939854 | 97939854 | Frame_Shift_Del | G | - | p.P286fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_477461 | 97939757 | 97939904 | 97939854 | 97939854 | Frame_Shift_Del | G | - | p.P286fs |
| STAD | TCGA-HU-A4GN-01 | exon_skip_477461 | 97939757 | 97939904 | 97939854 | 97939854 | Frame_Shift_Del | G | - | p.A287fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_477466 | 97941409 | 97941576 | 97941457 | 97941457 | Frame_Shift_Del | G | - | p.P253fs |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_477466 | 97941409 | 97941576 | 97941457 | 97941457 | Frame_Shift_Del | G | - | p.P253fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_477472 | 97946531 | 97946668 | 97946630 | 97946630 | Frame_Shift_Del | T | - | p.K129fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_477474 | 97949370 | 97949441 | 97949433 | 97949433 | Frame_Shift_Del | T | - | p.K95fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_477474 | 97949370 | 97949441 | 97949433 | 97949433 | Frame_Shift_Del | T | - | p.K95fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_477474 | 97949370 | 97949441 | 97949433 | 97949433 | Frame_Shift_Del | T | - | p.K95fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_477486 | 97984354 | 97984440 | 97984370 | 97984370 | Frame_Shift_Del | G | - | p.P66fs |
| COAD | TCGA-AD-6964-01 | exon_skip_477489 | 97991669 | 97991744 | 97991694 | 97991694 | Frame_Shift_Del | C | - | p.K35fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_477461 | 97939757 | 97939904 | 97939853 | 97939854 | Frame_Shift_Ins | - | G | p.P286fs |
| READ | TCGA-F5-6814-01 | exon_skip_477466 | 97941409 | 97941576 | 97941483 | 97941483 | Nonsense_Mutation | C | A | p.E245X |
| BLCA | TCGA-FD-A6TE-01 | exon_skip_477481 | 97949549 | 97949610 | 97949589 | 97949589 | Nonsense_Mutation | G | T | p.S79* |
| COAD | TCGA-G4-6293-01 | exon_skip_477471 | 97944772 | 97944924 | 97944926 | 97944931 | Splice_Site | TAAAAA | - | . |
| LUSC | TCGA-22-5473-01 | exon_skip_477489 | 97991669 | 97991744 | 97991745 | 97991745 | Splice_Site | C | G | p.N18_splice |
| - 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 |
| HEC59_ENDOMETRIUM | 97933508 | 97933688 | 97933623 | 97933623 | Frame_Shift_Del | G | - | p.P437fs |
| 2313287_STOMACH | 97933508 | 97933688 | 97933623 | 97933623 | Frame_Shift_Del | G | - | p.P437fs |
| LS180_LARGE_INTESTINE | 97933508 | 97933688 | 97933623 | 97933623 | Frame_Shift_Del | G | - | p.P437fs |
| KARPAS231_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 97923386 | 97923423 | 97923404 | 97923404 | Missense_Mutation | G | A | p.A481V |
| LCLC97TM1_LUNG | 97933508 | 97933688 | 97933513 | 97933513 | Missense_Mutation | C | A | p.A473S |
| HCC2998_LARGE_INTESTINE | 97933508 | 97933688 | 97933585 | 97933585 | Missense_Mutation | C | T | p.A449T |
| NH12_AUTONOMIC_GANGLIA | 97933508 | 97933688 | 97933610 | 97933610 | Missense_Mutation | C | A | p.L440F |
| NCIH1373_LUNG | 97933508 | 97933688 | 97933616 | 97933616 | Missense_Mutation | G | C | p.D438E |
| HEC251_ENDOMETRIUM | 97939757 | 97939904 | 97939817 | 97939817 | Missense_Mutation | C | T | p.D299N |
| THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 97941409 | 97941576 | 97941411 | 97941411 | Missense_Mutation | C | T | p.V269M |
| TE15_OESOPHAGUS | 97941409 | 97941576 | 97941489 | 97941489 | Missense_Mutation | T | A | p.I243F |
| KOSC2_UPPER_AERODIGESTIVE_TRACT | 97941409 | 97941576 | 97941545 | 97941545 | Missense_Mutation | C | T | p.R224Q |
| NCIH1869_LUNG | 97944772 | 97944924 | 97944780 | 97944780 | Missense_Mutation | G | A | p.H211Y |
| PC3_PROSTATE | 97944772 | 97944924 | 97944814 | 97944814 | Missense_Mutation | C | A | p.K199N |
| COGE352_BONE | 97944772 | 97944924 | 97944921 | 97944921 | Missense_Mutation | C | T | p.V164M |
| CCK81_LARGE_INTESTINE | 97946531 | 97946668 | 97946551 | 97946551 | Missense_Mutation | A | G | p.Y156H |
| HT115_LARGE_INTESTINE | 97946531 | 97946668 | 97946565 | 97946565 | Missense_Mutation | C | T | p.R151Q |
| HEC251_ENDOMETRIUM | 97946531 | 97946668 | 97946598 | 97946598 | Missense_Mutation | A | G | p.L140S |
| SW684_SOFT_TISSUE | 97946531 | 97946668 | 97946610 | 97946610 | Missense_Mutation | G | A | p.S136F |
| LS411N_LARGE_INTESTINE | 97949370 | 97949441 | 97949430 | 97949430 | Missense_Mutation | G | T | p.F96L |
| SNU81_LARGE_INTESTINE | 97949370 | 97949441 | 97949435 | 97949435 | Missense_Mutation | T | G | p.K95Q |
| SNU899_UPPER_AERODIGESTIVE_TRACT | 97984354 | 97984440 | 97984411 | 97984411 | Missense_Mutation | C | G | p.D53H |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 97984354 | 97984440 | 97984420 | 97984420 | Missense_Mutation | C | T | p.A50T |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 97991669 | 97991744 | 97991702 | 97991702 | Missense_Mutation | T | A | p.N32Y |
| NCIH650_LUNG | 97941409 | 97941576 | 97941537 | 97941537 | Nonsense_Mutation | C | A | p.E227* |
| HCC2998_LARGE_INTESTINE | 97946531 | 97946668 | 97946539 | 97946539 | Nonsense_Mutation | C | A | p.E160* |
| SARC9371_BONE | 97946531 | 97946668 | 97946644 | 97946644 | Nonsense_Mutation | C | A | p.E125* |
| NCIH508_LARGE_INTESTINE | 97991669 | 97991744 | 97991670 | 97991671 | Splice_Site | - | T | p.N42fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BAIAP2L1 |
| 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 BAIAP2L1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BAIAP2L1 |
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RelatedDrugs for BAIAP2L1 |
| 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 BAIAP2L1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BAIAP2L1 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
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