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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 LRBA |
 Gene summary |
| Gene information | Gene symbol | LRBA | Gene ID | 987 |
| Gene name | LPS responsive beige-like anchor protein | |
| Synonyms | BGL|CDC4L|CVID8|LAB300|LBA | |
| Cytomap | 4q31.3 | |
| Type of gene | protein-coding | |
| Description | lipopolysaccharide-responsive and beige-like anchor proteinCDC4-like proteinLPS-responsive vesicle trafficking, beach and anchor containingvesicle trafficking, beach and anchor containing | |
| Modification date | 20180519 | |
| UniProtAcc | P50851 | |
| Context | PubMed: LRBA [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 LRBA 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 LRBA |
| 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 LRBA |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_432571 | 4 | 151186793:151186964:151199004:151199156:151203601:151203795 | 151199004:151199156 | ENSG00000198589.6 | ENST00000510413.1,ENST00000503716.1,ENST00000535741.1,ENST00000509835.1,ENST00000515096.1,ENST00000510157.1,ENST00000357115.3 |
| exon_skip_432574 | 4 | 151186717:151186964:151203601:151203798:151207084:151207186 | 151203601:151203798 | ENSG00000198589.6 | ENST00000508606.1 |
| exon_skip_432576 | 4 | 151199004:151199156:151203601:151203798:151207084:151207186 | 151203601:151203798 | ENSG00000198589.6 | ENST00000510413.1,ENST00000503716.1,ENST00000535741.1,ENST00000509835.1,ENST00000515096.1,ENST00000510157.1,ENST00000357115.3 |
| exon_skip_432577 | 4 | 151231380:151231536:151236712:151236775:151242342:151242520 | 151236712:151236775 | ENSG00000198589.6 | ENST00000510413.1,ENST00000503716.1,ENST00000535741.1,ENST00000509835.1,ENST00000357115.3 |
| exon_skip_432578 | 4 | 151246960:151247050:151271143:151271311:151336589:151336742 | 151271143:151271311 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000503716.1,ENST00000535741.1,ENST00000509835.1,ENST00000357115.3 |
| exon_skip_432579 | 4 | 151271143:151271311:151336589:151336742:151356740:151356860 | 151336589:151336742 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000503716.1,ENST00000535741.1,ENST00000509835.1,ENST00000357115.3 |
| exon_skip_432580 | 4 | 151336589:151336742:151356740:151356860:151357875:151358009 | 151356740:151356860 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000503716.1,ENST00000535741.1,ENST00000509835.1,ENST00000357115.3 |
| exon_skip_432584 | 4 | 151511864:151512011:151518234:151518267:151520158:151520283 | 151518234:151518267 | ENSG00000198589.6 | ENST00000357115.3 |
| exon_skip_432585 | 4 | 151604754:151604869:151656409:151656518:151682934:151682999 | 151656409:151656518 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000535741.1,ENST00000509835.1,ENST00000357115.3 |
| exon_skip_432588 | 4 | 151727422:151727556:151729471:151729550:151738275:151738409 | 151729471:151729550 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000535741.1,ENST00000509835.1,ENST00000357115.3 |
| exon_skip_432590 | 4 | 151752968:151753128:151765251:151765359:151765809:151765931 | 151765251:151765359 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000535741.1,ENST00000509835.1,ENST00000357115.3 |
| exon_skip_432591 | 4 | 151769969:151770150:151770573:151770727:151771875:151772054 | 151770573:151770727 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000535741.1,ENST00000357115.3 |
| exon_skip_432593 | 4 | 151770573:151770727:151771875:151772054:151773036:151774095 | 151771875:151772054 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000535741.1,ENST00000357115.3 |
| exon_skip_432595 | 4 | 151773036:151774095:151788822:151789015:151789333:151789457 | 151788822:151789015 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000535741.1,ENST00000357115.3 |
| exon_skip_432596 | 4 | 151792496:151792605:151793814:151793907:151814203:151814301 | 151793814:151793907 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000535741.1,ENST00000357115.3 |
| exon_skip_432597 | 4 | 151793814:151793907:151814203:151814301:151817545:151817608 | 151814203:151814301 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000535741.1,ENST00000357115.3 |
| exon_skip_432598 | 4 | 151817545:151817608:151818890:151818970:151821200:151821369 | 151818890:151818970 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000535741.1,ENST00000357115.3 |
| exon_skip_432600 | 4 | 151829485:151829619:151829811:151830009:151835346:151835493 | 151829811:151830009 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000535741.1,ENST00000357115.3 |
| exon_skip_432601 | 4 | 151837768:151837890:151842349:151842445:151849667:151849768 | 151842349:151842445 | ENSG00000198589.6 | ENST00000510413.1,ENST00000507224.1,ENST00000535741.1,ENST00000357115.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LRBA |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_432571 | 4 | 151186793:151186964:151199004:151199156:151203601:151203795 | 151199004:151199156 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000515096.1,ENST00000503716.1,ENST00000357115.3,ENST00000509835.1,ENST00000510157.1 |
| exon_skip_432574 | 4 | 151186717:151186964:151203601:151203798:151207084:151207186 | 151203601:151203798 | ENSG00000198589.6 | ENST00000508606.1 |
| exon_skip_432576 | 4 | 151199004:151199156:151203601:151203798:151207084:151207186 | 151203601:151203798 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000515096.1,ENST00000503716.1,ENST00000357115.3,ENST00000509835.1,ENST00000510157.1 |
| exon_skip_432577 | 4 | 151231380:151231536:151236712:151236775:151242342:151242520 | 151236712:151236775 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000503716.1,ENST00000357115.3,ENST00000509835.1 |
| exon_skip_432578 | 4 | 151246960:151247050:151271143:151271311:151336589:151336742 | 151271143:151271311 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000503716.1,ENST00000357115.3,ENST00000509835.1,ENST00000507224.1 |
| exon_skip_432579 | 4 | 151271143:151271311:151336589:151336742:151356740:151356860 | 151336589:151336742 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000503716.1,ENST00000357115.3,ENST00000509835.1,ENST00000507224.1 |
| exon_skip_432580 | 4 | 151336589:151336742:151356740:151356860:151357875:151358009 | 151356740:151356860 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000503716.1,ENST00000357115.3,ENST00000509835.1,ENST00000507224.1 |
| exon_skip_432584 | 4 | 151511864:151512011:151518234:151518267:151520158:151520283 | 151518234:151518267 | ENSG00000198589.6 | ENST00000357115.3 |
| exon_skip_432585 | 4 | 151604754:151604869:151656409:151656518:151682934:151682999 | 151656409:151656518 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000357115.3,ENST00000509835.1,ENST00000507224.1 |
| exon_skip_432588 | 4 | 151727422:151727556:151729471:151729550:151738275:151738409 | 151729471:151729550 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000357115.3,ENST00000509835.1,ENST00000507224.1 |
| exon_skip_432590 | 4 | 151752968:151753128:151765251:151765359:151765809:151765931 | 151765251:151765359 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000357115.3,ENST00000509835.1,ENST00000507224.1 |
| exon_skip_432591 | 4 | 151769969:151770150:151770573:151770727:151771875:151772054 | 151770573:151770727 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000357115.3,ENST00000507224.1 |
| exon_skip_432593 | 4 | 151770573:151770727:151771875:151772054:151773036:151774095 | 151771875:151772054 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000357115.3,ENST00000507224.1 |
| exon_skip_432595 | 4 | 151773036:151774095:151788822:151789015:151789333:151789457 | 151788822:151789015 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000357115.3,ENST00000507224.1 |
| exon_skip_432596 | 4 | 151792496:151792605:151793814:151793907:151814203:151814301 | 151793814:151793907 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000357115.3,ENST00000507224.1 |
| exon_skip_432597 | 4 | 151793814:151793907:151814203:151814301:151817545:151817608 | 151814203:151814301 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000357115.3,ENST00000507224.1 |
| exon_skip_432598 | 4 | 151817545:151817608:151818890:151818970:151821200:151821369 | 151818890:151818970 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000357115.3,ENST00000507224.1 |
| exon_skip_432601 | 4 | 151837768:151837890:151842349:151842445:151849667:151849768 | 151842349:151842445 | ENSG00000198589.6 | ENST00000535741.1,ENST00000510413.1,ENST00000357115.3,ENST00000507224.1 |
| 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 LRBA |
| 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 |
| ENST00000357115 | 151199004 | 151199156 | Frame-shift |
| ENST00000357115 | 151203601 | 151203798 | Frame-shift |
| ENST00000357115 | 151656409 | 151656518 | Frame-shift |
| ENST00000357115 | 151729471 | 151729550 | Frame-shift |
| ENST00000357115 | 151770573 | 151770727 | Frame-shift |
| ENST00000357115 | 151771875 | 151772054 | Frame-shift |
| ENST00000357115 | 151788822 | 151789015 | Frame-shift |
| ENST00000357115 | 151814203 | 151814301 | Frame-shift |
| ENST00000357115 | 151818890 | 151818970 | Frame-shift |
| ENST00000357115 | 151236712 | 151236775 | In-frame |
| ENST00000357115 | 151271143 | 151271311 | In-frame |
| ENST00000357115 | 151336589 | 151336742 | In-frame |
| ENST00000357115 | 151356740 | 151356860 | In-frame |
| ENST00000357115 | 151518234 | 151518267 | In-frame |
| ENST00000357115 | 151765251 | 151765359 | In-frame |
| ENST00000357115 | 151793814 | 151793907 | In-frame |
| ENST00000357115 | 151829811 | 151830009 | In-frame |
| ENST00000357115 | 151842349 | 151842445 | 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 |
| ENST00000357115 | 151199004 | 151199156 | Frame-shift |
| ENST00000357115 | 151203601 | 151203798 | Frame-shift |
| ENST00000357115 | 151656409 | 151656518 | Frame-shift |
| ENST00000357115 | 151729471 | 151729550 | Frame-shift |
| ENST00000357115 | 151770573 | 151770727 | Frame-shift |
| ENST00000357115 | 151771875 | 151772054 | Frame-shift |
| ENST00000357115 | 151788822 | 151789015 | Frame-shift |
| ENST00000357115 | 151814203 | 151814301 | Frame-shift |
| ENST00000357115 | 151818890 | 151818970 | Frame-shift |
| ENST00000357115 | 151236712 | 151236775 | In-frame |
| ENST00000357115 | 151271143 | 151271311 | In-frame |
| ENST00000357115 | 151336589 | 151336742 | In-frame |
| ENST00000357115 | 151356740 | 151356860 | In-frame |
| ENST00000357115 | 151518234 | 151518267 | In-frame |
| ENST00000357115 | 151765251 | 151765359 | In-frame |
| ENST00000357115 | 151793814 | 151793907 | In-frame |
| ENST00000357115 | 151842349 | 151842445 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LRBA |
| 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 |
| ENST00000357115 | 9916 | 2863 | 151842349 | 151842445 | 794 | 889 | 183 | 215 |
| ENST00000357115 | 9916 | 2863 | 151829811 | 151830009 | 1406 | 1603 | 387 | 453 |
| ENST00000357115 | 9916 | 2863 | 151793814 | 151793907 | 2410 | 2502 | 722 | 752 |
| ENST00000357115 | 9916 | 2863 | 151765251 | 151765359 | 4706 | 4813 | 1487 | 1523 |
| ENST00000357115 | 9916 | 2863 | 151518234 | 151518267 | 6291 | 6323 | 2015 | 2026 |
| ENST00000357115 | 9916 | 2863 | 151356740 | 151356860 | 7199 | 7318 | 2318 | 2358 |
| ENST00000357115 | 9916 | 2863 | 151336589 | 151336742 | 7319 | 7471 | 2358 | 2409 |
| ENST00000357115 | 9916 | 2863 | 151271143 | 151271311 | 7472 | 7639 | 2409 | 2465 |
| ENST00000357115 | 9916 | 2863 | 151236712 | 151236775 | 7908 | 7970 | 2554 | 2575 |
| 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 |
| ENST00000357115 | 9916 | 2863 | 151842349 | 151842445 | 794 | 889 | 183 | 215 |
| ENST00000357115 | 9916 | 2863 | 151793814 | 151793907 | 2410 | 2502 | 722 | 752 |
| ENST00000357115 | 9916 | 2863 | 151765251 | 151765359 | 4706 | 4813 | 1487 | 1523 |
| ENST00000357115 | 9916 | 2863 | 151518234 | 151518267 | 6291 | 6323 | 2015 | 2026 |
| ENST00000357115 | 9916 | 2863 | 151356740 | 151356860 | 7199 | 7318 | 2318 | 2358 |
| ENST00000357115 | 9916 | 2863 | 151336589 | 151336742 | 7319 | 7471 | 2358 | 2409 |
| ENST00000357115 | 9916 | 2863 | 151271143 | 151271311 | 7472 | 7639 | 2409 | 2465 |
| ENST00000357115 | 9916 | 2863 | 151236712 | 151236775 | 7908 | 7970 | 2554 | 2575 |
| 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 |
| P50851 | 183 | 215 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 387 | 453 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 722 | 752 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 722 | 752 | 750 | 751 | Sequence conflict | Note=LA->RP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P50851 | 1487 | 1523 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 1487 | 1523 | 1488 | 1488 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
| P50851 | 1487 | 1523 | 1498 | 1498 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P50851 | 2015 | 2026 | 2016 | 2026 | Alternative sequence | ID=VSP_038225;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12160729;Dbxref=PMID:12160729 |
| P50851 | 2015 | 2026 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 2318 | 2358 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 2318 | 2358 | 2200 | 2489 | Domain | Note=BEACH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00026 |
| P50851 | 2318 | 2358 | 2321 | 2329 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2318 | 2358 | 2343 | 2352 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2318 | 2358 | 2336 | 2338 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2358 | 2409 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 2358 | 2409 | 2200 | 2489 | Domain | Note=BEACH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00026 |
| P50851 | 2358 | 2409 | 2362 | 2365 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2358 | 2409 | 2368 | 2371 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2358 | 2409 | 2400 | 2412 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 2409 | 2465 | 2200 | 2489 | Domain | Note=BEACH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00026 |
| P50851 | 2409 | 2465 | 2400 | 2412 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2414 | 2417 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2420 | 2427 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2434 | 2440 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2446 | 2448 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2455 | 2457 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2461 | 2474 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2554 | 2575 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| 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 |
| P50851 | 183 | 215 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 722 | 752 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 722 | 752 | 750 | 751 | Sequence conflict | Note=LA->RP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P50851 | 1487 | 1523 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 1487 | 1523 | 1488 | 1488 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
| P50851 | 1487 | 1523 | 1498 | 1498 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P50851 | 2015 | 2026 | 2016 | 2026 | Alternative sequence | ID=VSP_038225;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12160729;Dbxref=PMID:12160729 |
| P50851 | 2015 | 2026 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 2318 | 2358 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 2318 | 2358 | 2200 | 2489 | Domain | Note=BEACH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00026 |
| P50851 | 2318 | 2358 | 2321 | 2329 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2318 | 2358 | 2343 | 2352 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2318 | 2358 | 2336 | 2338 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2358 | 2409 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 2358 | 2409 | 2200 | 2489 | Domain | Note=BEACH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00026 |
| P50851 | 2358 | 2409 | 2362 | 2365 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2358 | 2409 | 2368 | 2371 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2358 | 2409 | 2400 | 2412 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
| P50851 | 2409 | 2465 | 2200 | 2489 | Domain | Note=BEACH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00026 |
| P50851 | 2409 | 2465 | 2400 | 2412 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2414 | 2417 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2420 | 2427 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2434 | 2440 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2446 | 2448 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2455 | 2457 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2409 | 2465 | 2461 | 2474 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T77 |
| P50851 | 2554 | 2575 | 2 | 2863 | Chain | ID=PRO_0000051068;Note=Lipopolysaccharide-responsive and beige-like anchor protein |
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SNVs in the skipped exons for LRBA |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_432574 exon_skip_432576 | 151203602 | 151203798 | 151203619 | 151203619 | Frame_Shift_Del | T | - | p.T2767fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_432578 | 151271144 | 151271311 | 151271199 | 151271199 | Frame_Shift_Del | A | - | p.L2436fs |
| HNSC | TCGA-CQ-5323-01 | exon_skip_432579 | 151336590 | 151336742 | 151336690 | 151336690 | Frame_Shift_Del | T | - | p.N2365fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_432591 | 151770574 | 151770727 | 151770594 | 151770594 | Frame_Shift_Del | A | - | p.S1380fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_432591 | 151770574 | 151770727 | 151770611 | 151770611 | Frame_Shift_Del | C | - | p.G1374fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_432593 | 151771876 | 151772054 | 151771994 | 151771994 | Frame_Shift_Del | T | - | p.R1297fs |
| STAD | TCGA-CG-5721-01 | exon_skip_432595 | 151788823 | 151789015 | 151788975 | 151788975 | Frame_Shift_Del | A | - | p.S872fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_432596 | 151793815 | 151793907 | 151793818 | 151793818 | Frame_Shift_Del | G | - | p.P752fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_432596 | 151793815 | 151793907 | 151793829 | 151793829 | Frame_Shift_Del | T | - | p.K748fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_432596 | 151793815 | 151793907 | 151793833 | 151793833 | Frame_Shift_Del | A | - | p.L747fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_432596 | 151793815 | 151793907 | 151793833 | 151793833 | Frame_Shift_Del | A | - | p.L747fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_432596 | 151793815 | 151793907 | 151793833 | 151793833 | Frame_Shift_Del | A | - | p.L747fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_432597 | 151814204 | 151814301 | 151814224 | 151814224 | Frame_Shift_Del | A | - | p.F715fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_432597 | 151814204 | 151814301 | 151814261 | 151814261 | Frame_Shift_Del | A | - | p.L703fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_432600 | 151829812 | 151830009 | 151829842 | 151829842 | Frame_Shift_Del | A | - | p.F443fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_432600 | 151829812 | 151830009 | 151829842 | 151829842 | Frame_Shift_Del | A | - | p.V444fs |
| KIRP | TCGA-BQ-7060-01 | exon_skip_432578 | 151271144 | 151271311 | 151271258 | 151271259 | Frame_Shift_Ins | - | AT | p.I2416fs |
| KIRP | TCGA-BQ-7060-01 | exon_skip_432578 | 151271144 | 151271311 | 151271258 | 151271259 | Frame_Shift_Ins | - | AT | p.I2427fs |
| PAAD | TCGA-IB-A7M4-01 | exon_skip_432571 | 151199005 | 151199156 | 151199141 | 151199141 | Nonsense_Mutation | G | A | p.R2778* |
| PAAD | TCGA-IB-A7M4-01 | exon_skip_432571 | 151199005 | 151199156 | 151199141 | 151199141 | Nonsense_Mutation | G | A | p.R2789* |
| PAAD | TCGA-IB-A7M4-01 | exon_skip_432571 | 151199005 | 151199156 | 151199141 | 151199141 | Nonsense_Mutation | G | A | p.R2789X |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_432578 | 151271144 | 151271311 | 151271169 | 151271169 | Nonsense_Mutation | G | T | p.S2457* |
| SKCM | TCGA-D3-A5GO-06 | exon_skip_432578 | 151271144 | 151271311 | 151271224 | 151271224 | Nonsense_Mutation | G | A | p.R2428* |
| SKCM | TCGA-FR-A69P-06 | exon_skip_432578 | 151271144 | 151271311 | 151271270 | 151271270 | Nonsense_Mutation | C | T | p.W2412* |
| COAD | TCGA-AA-3510-01 | exon_skip_432580 | 151356741 | 151356860 | 151356803 | 151356803 | Nonsense_Mutation | G | A | p.R2338X |
| BLCA | TCGA-DK-A2HX-01 | exon_skip_432588 | 151729472 | 151729550 | 151729481 | 151729481 | Nonsense_Mutation | G | C | p.S1792* |
| LUSC | TCGA-21-5787-01 | exon_skip_432593 | 151771876 | 151772054 | 151771880 | 151771880 | Nonsense_Mutation | T | A | p.R1334* |
| CESC | TCGA-IR-A3LK-01 | exon_skip_432600 | 151829812 | 151830009 | 151829834 | 151829834 | Nonsense_Mutation | G | T | p.S446* |
| - 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 |
| HCT15_LARGE_INTESTINE | 151271144 | 151271311 | 151271255 | 151271255 | Frame_Shift_Del | A | - | p.F2428fs |
| KE39_STOMACH | 151770574 | 151770727 | 151770633 | 151770655 | Frame_Shift_Del | TGTCCATCACTTGAGAGATGAGA | - | p.HLISQVMDN1359fs |
| KURAMOCHI_OVARY | 151770574 | 151770727 | 151770667 | 151770667 | Frame_Shift_Del | G | - | p.H1355fs |
| SNU1040_LARGE_INTESTINE | 151199005 | 151199156 | 151199023 | 151199023 | Missense_Mutation | G | A | p.A2828V |
| SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151199005 | 151199156 | 151199023 | 151199023 | Missense_Mutation | G | A | p.A2828V |
| SW579_THYROID | 151199005 | 151199156 | 151199032 | 151199032 | Missense_Mutation | C | T | p.R2825Q |
| CGTHW1_THYROID | 151199005 | 151199156 | 151199032 | 151199032 | Missense_Mutation | C | T | p.R2825Q |
| HOP92_LUNG | 151199005 | 151199156 | 151199038 | 151199038 | Missense_Mutation | C | A | p.G2823V |
| TCCPAN2_PANCREAS | 151199005 | 151199156 | 151199045 | 151199045 | Missense_Mutation | C | T | p.D2821N |
| CORL88_LUNG | 151199005 | 151199156 | 151199048 | 151199048 | Missense_Mutation | A | G | p.C2820R |
| HCC515_LUNG | 151199005 | 151199156 | 151199071 | 151199071 | Missense_Mutation | T | A | p.K2812M |
| SNU1040_LARGE_INTESTINE | 151203602 | 151203798 | 151203609 | 151203609 | Missense_Mutation | T | C | p.N2781S |
| AN3CA_ENDOMETRIUM | 151203602 | 151203798 | 151203669 | 151203669 | Missense_Mutation | C | T | p.G2761D |
| SNU81_LARGE_INTESTINE | 151203602 | 151203798 | 151203694 | 151203694 | Missense_Mutation | G | T | p.H2753N |
| CW2_LARGE_INTESTINE | 151203602 | 151203798 | 151203745 | 151203745 | Missense_Mutation | C | A | p.G2736C |
| HEC251_ENDOMETRIUM | 151203602 | 151203798 | 151203787 | 151203787 | Missense_Mutation | G | T | p.L2722I |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151236713 | 151236775 | 151236764 | 151236764 | Missense_Mutation | C | A | p.A2559S |
| JMSU1_URINARY_TRACT | 151271144 | 151271311 | 151271150 | 151271150 | Missense_Mutation | C | G | p.L2463F |
| VMRCLCD_LUNG | 151271144 | 151271311 | 151271178 | 151271178 | Missense_Mutation | T | C | p.N2454S |
| SNU175_LARGE_INTESTINE | 151271144 | 151271311 | 151271209 | 151271209 | Missense_Mutation | A | G | p.F2444L |
| COLO783_SKIN | 151271144 | 151271311 | 151271232 | 151271232 | Missense_Mutation | T | C | p.E2436G |
| NCIH2066_LUNG | 151271144 | 151271311 | 151271265 | 151271265 | Missense_Mutation | T | A | p.D2425V |
| NCIH2172_LUNG | 151336590 | 151336742 | 151336655 | 151336655 | Missense_Mutation | C | A | p.V2388L |
| HEC151_ENDOMETRIUM | 151336590 | 151336742 | 151336708 | 151336708 | Missense_Mutation | A | G | p.M2370T |
| UMUC6_URINARY_TRACT | 151356741 | 151356860 | 151356751 | 151356751 | Missense_Mutation | G | A | p.S2355F |
| HT115_LARGE_INTESTINE | 151356741 | 151356860 | 151356802 | 151356802 | Missense_Mutation | C | T | p.R2338Q |
| SNU81_LARGE_INTESTINE | 151356741 | 151356860 | 151356802 | 151356802 | Missense_Mutation | C | T | p.R2338Q |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151656410 | 151656518 | 151656433 | 151656433 | Missense_Mutation | T | A | p.I1911F |
| TT_OESOPHAGUS | 151729472 | 151729550 | 151729509 | 151729509 | Missense_Mutation | C | A | p.V1783F |
| MCC26_SKIN | 151765252 | 151765359 | 151765326 | 151765326 | Missense_Mutation | G | A | p.P1499S |
| HCC2450_LUNG | 151770574 | 151770727 | 151770593 | 151770593 | Missense_Mutation | G | A | p.S1380L |
| HCC2814_LUNG | 151770574 | 151770727 | 151770607 | 151770607 | Missense_Mutation | T | C | p.I1375M |
| CL40_LARGE_INTESTINE | 151770574 | 151770727 | 151770680 | 151770680 | Missense_Mutation | A | G | p.V1351A |
| NCIH1703_LUNG | 151771876 | 151772054 | 151771930 | 151771930 | Missense_Mutation | C | A | p.R1317L |
| HUH7_LIVER | 151771876 | 151772054 | 151771931 | 151771931 | Missense_Mutation | G | A | p.R1317C |
| BT20_BREAST | 151771876 | 151772054 | 151771954 | 151771954 | Missense_Mutation | A | T | p.F1309Y |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151771876 | 151772054 | 151771975 | 151771975 | Missense_Mutation | G | A | p.T1302I |
| MRKNU1_BREAST | 151788823 | 151789015 | 151788867 | 151788867 | Missense_Mutation | C | A | p.G908C |
| JHUEM7_ENDOMETRIUM | 151788823 | 151789015 | 151788934 | 151788934 | Missense_Mutation | C | A | p.K885N |
| CHL1_SKIN | 151788823 | 151789015 | 151788987 | 151788987 | Missense_Mutation | C | T | p.E868K |
| HMCB_SKIN | 151788823 | 151789015 | 151788987 | 151788987 | Missense_Mutation | C | T | p.E868K |
| JHH1_LIVER | 151793815 | 151793907 | 151793891 | 151793891 | Missense_Mutation | G | C | p.L728V |
| SNU1040_LARGE_INTESTINE | 151818891 | 151818970 | 151818961 | 151818961 | Missense_Mutation | C | T | p.R645Q |
| SNU81_LARGE_INTESTINE | 151829812 | 151830009 | 151829847 | 151829847 | Missense_Mutation | T | G | p.I442L |
| LS411N_LARGE_INTESTINE | 151829812 | 151830009 | 151829892 | 151829892 | Missense_Mutation | C | A | p.D427Y |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151829812 | 151830009 | 151829900 | 151829900 | Missense_Mutation | C | T | p.R424Q |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151829812 | 151830009 | 151829982 | 151829982 | Missense_Mutation | C | T | p.D397N |
| MDAMB453_BREAST | 151842350 | 151842445 | 151842400 | 151842400 | Missense_Mutation | G | C | p.Q199E |
| 2313287_STOMACH | 151842350 | 151842445 | 151842404 | 151842404 | Missense_Mutation | C | T | p.M197I |
| SNU1040_LARGE_INTESTINE | 151356741 | 151356860 | 151356773 | 151356773 | Nonsense_Mutation | G | A | p.R2348* |
| SW403_LARGE_INTESTINE | 151829812 | 151830009 | 151829958 | 151829958 | Nonsense_Mutation | T | A | p.K405* |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 151203602 | 151203798 | 151203603 | 151203603 | Splice_Site | C | G | p.R2783T |
| NCIH1155_LUNG | 151814204 | 151814301 | 151814204 | 151814204 | Splice_Site | C | T | p.R722H |
| CHAGOK1_LUNG | 151814204 | 151814301 | 151814205 | 151814205 | Splice_Site | G | A | p.R722C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRBA |
| 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 LRBA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRBA |
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RelatedDrugs for LRBA |
| 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 LRBA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| LRBA | C3553512 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY | 1 | ORPHANET;UNIPROT |
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