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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 LAMB2 |
 Gene summary |
| Gene information | Gene symbol | LAMB2 | Gene ID | 3913 |
| Gene name | laminin subunit beta 2 | |
| Synonyms | LAMS|NPHS5 | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | laminin subunit beta-2S-LAM betaS-laminin subunit betalaminin B1s chainlaminin Slaminin, beta 2 (laminin S) | |
| Modification date | 20180522 | |
| UniProtAcc | P55268 | |
| Context | PubMed: LAMB2 [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 LAMB2 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 LAMB2 |
| 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 LAMB2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_384091 | 3 | 49158865:49159025:49159116:49159293:49159376:49159409 | 49159116:49159293 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4,ENST00000498377.1 |
| exon_skip_384092 | 3 | 49159595:49159803:49160136:49160485:49160564:49160806 | 49160136:49160485 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384101 | 3 | 49160879:49161064:49161160:49161533:49161622:49161719 | 49161160:49161533 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384105 | 3 | 49161391:49161533:49161622:49161719:49161827:49161912 | 49161622:49161719 | ENSG00000172037.9 | ENST00000480640.1,ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384107 | 3 | 49161875:49162045:49162133:49162358:49162438:49162602 | 49162133:49162358 | ENSG00000172037.9 | ENST00000542580.1,ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384110 | 3 | 49162438:49162602:49162685:49162917:49163179:49163323 | 49162685:49162917 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384120 | 3 | 49162438:49162602:49163399:49163592:49163797:49163858 | 49163399:49163592 | ENSG00000172037.9 | ENST00000486298.1 |
| exon_skip_384122 | 3 | 49162719:49162917:49163179:49163323:49163399:49163592 | 49163179:49163323 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4,ENST00000477701.1 |
| exon_skip_384124 | 3 | 49163797:49163930:49165890:49166018:49166093:49166173 | 49165890:49166018 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4,ENST00000488638.1 |
| exon_skip_384126 | 3 | 49167271:49167451:49167663:49167852:49168172:49168293 | 49167663:49167852 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384129 | 3 | 49167774:49167852:49168172:49168293:49168382:49168585 | 49168172:49168293 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384131 | 3 | 49168811:49168875:49168967:49169156:49169548:49169587 | 49168967:49169156 | ENSG00000172037.9 | ENST00000494831.1,ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384133 | 3 | 49169702:49169838:49169923:49170096:49170224:49170301 | 49169923:49170096 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LAMB2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_384091 | 3 | 49158865:49159025:49159116:49159293:49159376:49159409 | 49159116:49159293 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4,ENST00000498377.1 |
| exon_skip_384092 | 3 | 49159595:49159803:49160136:49160485:49160564:49160806 | 49160136:49160485 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384101 | 3 | 49160879:49161064:49161160:49161533:49161622:49161719 | 49161160:49161533 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384105 | 3 | 49161391:49161533:49161622:49161719:49161827:49161912 | 49161622:49161719 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4,ENST00000480640.1 |
| exon_skip_384107 | 3 | 49161875:49162045:49162133:49162358:49162438:49162602 | 49162133:49162358 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4,ENST00000542580.1 |
| exon_skip_384110 | 3 | 49162438:49162602:49162685:49162917:49163179:49163323 | 49162685:49162917 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384120 | 3 | 49162438:49162602:49163399:49163592:49163797:49163858 | 49163399:49163592 | ENSG00000172037.9 | ENST00000486298.1 |
| exon_skip_384122 | 3 | 49162719:49162917:49163179:49163323:49163399:49163592 | 49163179:49163323 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4,ENST00000477701.1 |
| exon_skip_384124 | 3 | 49163797:49163930:49165890:49166018:49166093:49166173 | 49165890:49166018 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4,ENST00000488638.1 |
| exon_skip_384126 | 3 | 49167271:49167451:49167663:49167852:49168172:49168293 | 49167663:49167852 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384129 | 3 | 49167774:49167852:49168172:49168293:49168382:49168585 | 49168172:49168293 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4 |
| exon_skip_384131 | 3 | 49168811:49168875:49168967:49169156:49169548:49169587 | 49168967:49169156 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4,ENST00000494831.1 |
| exon_skip_384133 | 3 | 49169702:49169838:49169923:49170096:49170224:49170301 | 49169923:49170096 | ENSG00000172037.9 | ENST00000418109.1,ENST00000305544.4 |
| 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 LAMB2 |
| 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 |
| ENST00000305544 | 49160136 | 49160485 | Frame-shift |
| ENST00000418109 | 49160136 | 49160485 | Frame-shift |
| ENST00000305544 | 49161160 | 49161533 | Frame-shift |
| ENST00000418109 | 49161160 | 49161533 | Frame-shift |
| ENST00000305544 | 49161622 | 49161719 | Frame-shift |
| ENST00000418109 | 49161622 | 49161719 | Frame-shift |
| ENST00000305544 | 49162685 | 49162917 | Frame-shift |
| ENST00000418109 | 49162685 | 49162917 | Frame-shift |
| ENST00000305544 | 49165890 | 49166018 | Frame-shift |
| ENST00000418109 | 49165890 | 49166018 | Frame-shift |
| ENST00000305544 | 49168172 | 49168293 | Frame-shift |
| ENST00000418109 | 49168172 | 49168293 | Frame-shift |
| ENST00000305544 | 49169923 | 49170096 | Frame-shift |
| ENST00000418109 | 49169923 | 49170096 | Frame-shift |
| ENST00000305544 | 49159116 | 49159293 | In-frame |
| ENST00000418109 | 49159116 | 49159293 | In-frame |
| ENST00000305544 | 49162133 | 49162358 | In-frame |
| ENST00000418109 | 49162133 | 49162358 | In-frame |
| ENST00000305544 | 49163179 | 49163323 | In-frame |
| ENST00000418109 | 49163179 | 49163323 | In-frame |
| ENST00000305544 | 49167663 | 49167852 | In-frame |
| ENST00000418109 | 49167663 | 49167852 | In-frame |
| ENST00000305544 | 49168967 | 49169156 | In-frame |
| ENST00000418109 | 49168967 | 49169156 | 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 |
| ENST00000305544 | 49160136 | 49160485 | Frame-shift |
| ENST00000418109 | 49160136 | 49160485 | Frame-shift |
| ENST00000305544 | 49161160 | 49161533 | Frame-shift |
| ENST00000418109 | 49161160 | 49161533 | Frame-shift |
| ENST00000305544 | 49161622 | 49161719 | Frame-shift |
| ENST00000418109 | 49161622 | 49161719 | Frame-shift |
| ENST00000305544 | 49162685 | 49162917 | Frame-shift |
| ENST00000418109 | 49162685 | 49162917 | Frame-shift |
| ENST00000305544 | 49165890 | 49166018 | Frame-shift |
| ENST00000418109 | 49165890 | 49166018 | Frame-shift |
| ENST00000305544 | 49168172 | 49168293 | Frame-shift |
| ENST00000418109 | 49168172 | 49168293 | Frame-shift |
| ENST00000305544 | 49169923 | 49170096 | Frame-shift |
| ENST00000418109 | 49169923 | 49170096 | Frame-shift |
| ENST00000305544 | 49159116 | 49159293 | In-frame |
| ENST00000418109 | 49159116 | 49159293 | In-frame |
| ENST00000305544 | 49162133 | 49162358 | In-frame |
| ENST00000418109 | 49162133 | 49162358 | In-frame |
| ENST00000305544 | 49163179 | 49163323 | In-frame |
| ENST00000418109 | 49163179 | 49163323 | In-frame |
| ENST00000305544 | 49167663 | 49167852 | In-frame |
| ENST00000418109 | 49167663 | 49167852 | In-frame |
| ENST00000305544 | 49168967 | 49169156 | In-frame |
| ENST00000418109 | 49168967 | 49169156 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LAMB2 |
| 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 |
| ENST00000305544 | 5660 | 1798 | 49168967 | 49169156 | 613 | 801 | 153 | 216 |
| ENST00000418109 | 5691 | 1798 | 49168967 | 49169156 | 625 | 813 | 153 | 216 |
| ENST00000305544 | 5660 | 1798 | 49167663 | 49167852 | 1190 | 1378 | 345 | 408 |
| ENST00000418109 | 5691 | 1798 | 49167663 | 49167852 | 1202 | 1390 | 345 | 408 |
| ENST00000305544 | 5660 | 1798 | 49163179 | 49163323 | 2498 | 2641 | 781 | 829 |
| ENST00000418109 | 5691 | 1798 | 49163179 | 49163323 | 2510 | 2653 | 781 | 829 |
| ENST00000305544 | 5660 | 1798 | 49162133 | 49162358 | 3038 | 3262 | 961 | 1036 |
| ENST00000418109 | 5691 | 1798 | 49162133 | 49162358 | 3050 | 3274 | 961 | 1036 |
| ENST00000305544 | 5660 | 1798 | 49159116 | 49159293 | 5077 | 5253 | 1641 | 1700 |
| ENST00000418109 | 5691 | 1798 | 49159116 | 49159293 | 5089 | 5265 | 1641 | 1700 |
| 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 |
| ENST00000305544 | 5660 | 1798 | 49168967 | 49169156 | 613 | 801 | 153 | 216 |
| ENST00000418109 | 5691 | 1798 | 49168967 | 49169156 | 625 | 813 | 153 | 216 |
| ENST00000305544 | 5660 | 1798 | 49167663 | 49167852 | 1190 | 1378 | 345 | 408 |
| ENST00000418109 | 5691 | 1798 | 49167663 | 49167852 | 1202 | 1390 | 345 | 408 |
| ENST00000305544 | 5660 | 1798 | 49163179 | 49163323 | 2498 | 2641 | 781 | 829 |
| ENST00000418109 | 5691 | 1798 | 49163179 | 49163323 | 2510 | 2653 | 781 | 829 |
| ENST00000305544 | 5660 | 1798 | 49162133 | 49162358 | 3038 | 3262 | 961 | 1036 |
| ENST00000418109 | 5691 | 1798 | 49162133 | 49162358 | 3050 | 3274 | 961 | 1036 |
| ENST00000305544 | 5660 | 1798 | 49159116 | 49159293 | 5077 | 5253 | 1641 | 1700 |
| ENST00000418109 | 5691 | 1798 | 49159116 | 49159293 | 5089 | 5265 | 1641 | 1700 |
| 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 |
| P55268 | 153 | 216 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 153 | 216 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 153 | 216 | 43 | 282 | Domain | Note=Laminin N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00466 |
| P55268 | 153 | 216 | 43 | 282 | Domain | Note=Laminin N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00466 |
| P55268 | 345 | 408 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 345 | 408 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 345 | 408 | 347 | 356 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 347 | 356 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 349 | 374 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 349 | 374 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 377 | 386 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 377 | 386 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 389 | 407 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 389 | 407 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 283 | 346 | Domain | Note=Laminin EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 283 | 346 | Domain | Note=Laminin EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 347 | 409 | Domain | Note=Laminin EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 347 | 409 | Domain | Note=Laminin EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 368 | 368 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P55268 | 345 | 408 | 368 | 368 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P55268 | 781 | 829 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 781 | 829 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 781 | 829 | 783 | 795 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 783 | 795 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 785 | 802 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 785 | 802 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 804 | 813 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 804 | 813 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 816 | 828 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 816 | 828 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 783 | 830 | Domain | Note=Laminin EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 783 | 830 | Domain | Note=Laminin EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 961 | 1036 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 961 | 1036 | 956 | 965 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 956 | 965 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 968 | 983 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 968 | 983 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 986 | 1000 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 986 | 1000 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 988 | 1007 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 988 | 1007 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 1010 | 1019 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 1010 | 1019 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 1022 | 1035 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 1022 | 1035 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 927 | 985 | Domain | Note=Laminin EGF-like 9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 927 | 985 | Domain | Note=Laminin EGF-like 9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 986 | 1037 | Domain | Note=Laminin EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 986 | 1037 | Domain | Note=Laminin EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 987 | 987 | Natural variant | ID=VAR_031971;Note=E->K;Dbxref=dbSNP:rs34759087 |
| P55268 | 961 | 1036 | 987 | 987 | Natural variant | ID=VAR_031971;Note=E->K;Dbxref=dbSNP:rs34759087 |
| P55268 | 1641 | 1700 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 1641 | 1700 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 1641 | 1700 | 1577 | 1790 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P55268 | 1641 | 1700 | 1577 | 1790 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P55268 | 1641 | 1700 | 1443 | 1798 | Region | Note=Domain I |
| P55268 | 1641 | 1700 | 1443 | 1798 | Region | Note=Domain I |
| 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 |
| P55268 | 153 | 216 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 153 | 216 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 153 | 216 | 43 | 282 | Domain | Note=Laminin N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00466 |
| P55268 | 153 | 216 | 43 | 282 | Domain | Note=Laminin N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00466 |
| P55268 | 345 | 408 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 345 | 408 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 345 | 408 | 347 | 356 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 347 | 356 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 349 | 374 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 349 | 374 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 377 | 386 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 377 | 386 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 389 | 407 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 389 | 407 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 283 | 346 | Domain | Note=Laminin EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 283 | 346 | Domain | Note=Laminin EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 347 | 409 | Domain | Note=Laminin EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 347 | 409 | Domain | Note=Laminin EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 345 | 408 | 368 | 368 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P55268 | 345 | 408 | 368 | 368 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P55268 | 781 | 829 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 781 | 829 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 781 | 829 | 783 | 795 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 783 | 795 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 785 | 802 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 785 | 802 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 804 | 813 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 804 | 813 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 816 | 828 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 816 | 828 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 783 | 830 | Domain | Note=Laminin EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 781 | 829 | 783 | 830 | Domain | Note=Laminin EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 961 | 1036 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 961 | 1036 | 956 | 965 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 956 | 965 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 968 | 983 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 968 | 983 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 986 | 1000 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 986 | 1000 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 988 | 1007 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 988 | 1007 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 1010 | 1019 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 1010 | 1019 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 1022 | 1035 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 1022 | 1035 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 927 | 985 | Domain | Note=Laminin EGF-like 9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 927 | 985 | Domain | Note=Laminin EGF-like 9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 986 | 1037 | Domain | Note=Laminin EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 986 | 1037 | Domain | Note=Laminin EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460 |
| P55268 | 961 | 1036 | 987 | 987 | Natural variant | ID=VAR_031971;Note=E->K;Dbxref=dbSNP:rs34759087 |
| P55268 | 961 | 1036 | 987 | 987 | Natural variant | ID=VAR_031971;Note=E->K;Dbxref=dbSNP:rs34759087 |
| P55268 | 1641 | 1700 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 1641 | 1700 | 33 | 1798 | Chain | ID=PRO_0000017068;Note=Laminin subunit beta-2 |
| P55268 | 1641 | 1700 | 1577 | 1790 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P55268 | 1641 | 1700 | 1577 | 1790 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P55268 | 1641 | 1700 | 1443 | 1798 | Region | Note=Domain I |
| P55268 | 1641 | 1700 | 1443 | 1798 | Region | Note=Domain I |
Top |
SNVs in the skipped exons for LAMB2 |
| - 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. |
LAMB2_SKCM_exon_skip_384126_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| STAD | TCGA-BR-8368-01 | exon_skip_384092 | 49160137 | 49160485 | 49160436 | 49160436 | Frame_Shift_Del | C | - | p.G1425fs |
| LIHC | TCGA-DD-A1EG-01 | 49163400 | 49163592 | 49163421 | 49163421 | Frame_Shift_Del | G | - | p.L775fs | |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_384131 | 49168968 | 49169156 | 49169047 | 49169047 | Frame_Shift_Del | G | - | p.P190fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_384131 | 49168968 | 49169156 | 49169083 | 49169083 | Frame_Shift_Del | A | - | p.F178fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_384129 | 49168173 | 49168293 | 49168208 | 49168209 | Frame_Shift_Ins | - | G | p.S334fs |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_384092 | 49160137 | 49160485 | 49160170 | 49160170 | Nonsense_Mutation | C | A | p.E1514* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_384092 | 49160137 | 49160485 | 49160170 | 49160170 | Nonsense_Mutation | C | A | p.E1514* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_384092 | 49160137 | 49160485 | 49160170 | 49160170 | Nonsense_Mutation | C | A | p.E1514X |
| BLCA | TCGA-BT-A20T-01 | exon_skip_384101 | 49161161 | 49161533 | 49161498 | 49161498 | Nonsense_Mutation | G | A | p.Q1154* |
| CESC | TCGA-JX-A3Q0-01 | exon_skip_384107 | 49162134 | 49162358 | 49162313 | 49162313 | Nonsense_Mutation | G | C | p.S977* |
| LUAD | TCGA-17-Z016-01 | exon_skip_384110 | 49162686 | 49162917 | 49162900 | 49162900 | Nonsense_Mutation | C | A | p.E836* |
| BRCA | TCGA-E9-A1RG-01 | exon_skip_384122 | 49163180 | 49163323 | 49163267 | 49163267 | Nonsense_Mutation | G | A | p.Q801* |
| LIHC | TCGA-RC-A7S9-01 | exon_skip_384110 | 49162686 | 49162917 | 49162918 | 49162918 | Splice_Site | C | A | . |
| BRCA | TCGA-BH-A0BZ-01 | exon_skip_384124 | 49165891 | 49166018 | 49166019 | 49166019 | Splice_Site | C | T | e15-1 |
| SKCM | TCGA-D3-A2JO-06 | exon_skip_384126 | 49167664 | 49167852 | 49167662 | 49167662 | Splice_Site | A | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-D3-A2JO-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_384126 | |
| Skipped exon start: 49167664 | |
| Skipped exon end: 49167852 | |
| Mutation start: 49167662 | |
| Mutation end: 49167662 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: C | |
| AAchange: . | |
exon_skip_312995_SKCM_TCGA-D3-A2JO-06.png | |
exon_skip_384126_SKCM_TCGA-D3-A2JO-06.png | |
exon_skip_472522_SKCM_TCGA-D3-A2JO-06.png | |
exon_skip_93333_SKCM_TCGA-D3-A2JO-06.png | |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: | |
| Skipped exon start: 49163400 | |
| Skipped exon end: 49163592 | |
| Mutation start: 49163421 | |
| Mutation end: 49163421 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L775fs | |
| Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_384131 | |
| Skipped exon start: 49168968 | |
| Skipped exon end: 49169156 | |
| Mutation start: 49169083 | |
| Mutation end: 49169083 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.F178fs | |
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_115462_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_115587_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_116330_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_121002_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_123667_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_12440_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_125045_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_129202_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_129996_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_130099_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_13071_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_131505_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_131697_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_133542_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_133548_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_134792_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135418_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135741_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135763_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135820_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_13608_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138255_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138373_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138947_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_140996_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_141914_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143553_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143841_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143843_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144116_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144125_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146762_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146776_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146807_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_14772_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_148738_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_148740_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_14897_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_14899_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_15042_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_150985_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_153494_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_155021_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_16928_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_17317_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_17318_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_17943_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_18708_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19048_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_1906_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19372_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19902_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_20061_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_22876_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_2523_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_26461_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_27038_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_27065_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_283878_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_284109_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_288112_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_290222_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_290223_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_29032_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_290_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_291361_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_291973_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_29487_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_295443_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_297892_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_299242_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30164_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30165_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_302094_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_302095_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_302097_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_302181_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_305812_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_305815_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_3064_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_307291_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_307292_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30744_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_307494_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_307495_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30789_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30792_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_308209_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_308211_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_308911_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_309060_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_309486_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_309505_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_309539_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_311823_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_311841_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_312748_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_315763_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_315773_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_316803_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_31766_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_318224_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_318551_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_318554_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_318555_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_319623_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_319638_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_32002_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_320793_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_320801LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_320805_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_320820_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_320893_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_323233_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_324148_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_325050_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_325907_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_325909_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_326432_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_329221_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_329666_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_330008_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_331787_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_33329_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_33532_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_335990_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_33963_LIHC_TCGA-DD-A1EG-01.png | |
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| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 49160137 | 49160485 | 49160254 | 49160255 | Frame_Shift_Del | CG | - | p.SE1485fs |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49161161 | 49161533 | 49161237 | 49161237 | Frame_Shift_Del | C | - | p.V1241fs |
| NCIH740_LUNG | 49163180 | 49163323 | 49163215 | 49163215 | Frame_Shift_Del | G | - | p.P818fs |
| HEC6_ENDOMETRIUM | 49163400 | 49163592 | 49163546 | 49163546 | Frame_Shift_Del | C | - | p.G733fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 49160137 | 49160485 | 49160257 | 49160258 | Frame_Shift_Ins | - | TC | p.S1485fs |
| SKUT1_SOFT_TISSUE | 49160137 | 49160485 | 49160435 | 49160436 | Frame_Shift_Ins | - | C | p.G1425fs |
| CCK81_LARGE_INTESTINE | 49163400 | 49163592 | 49163576 | 49163577 | Frame_Shift_Ins | - | G | p.R723fs |
| HCC1569_BREAST | 49159117 | 49159293 | 49159148 | 49159148 | Missense_Mutation | C | T | p.S1690N |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49159117 | 49159293 | 49159211 | 49159211 | Missense_Mutation | G | T | p.A1669D |
| TTC642_SOFT_TISSUE | 49159117 | 49159293 | 49159236 | 49159236 | Missense_Mutation | G | A | p.R1661W |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49160137 | 49160485 | 49160316 | 49160316 | Missense_Mutation | C | T | p.R1465Q |
| MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49160137 | 49160485 | 49160317 | 49160317 | Missense_Mutation | G | A | p.R1465W |
| TC106_BONE | 49160137 | 49160485 | 49160373 | 49160373 | Missense_Mutation | G | A | p.A1446V |
| MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49160137 | 49160485 | 49160436 | 49160436 | Missense_Mutation | C | A | p.G1425V |
| DBTRG05MG_CENTRAL_NERVOUS_SYSTEM | 49160137 | 49160485 | 49160476 | 49160476 | Missense_Mutation | C | A | p.A1412S |
| SNU1040_LARGE_INTESTINE | 49161161 | 49161533 | 49161260 | 49161260 | Missense_Mutation | T | C | p.H1233R |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49161161 | 49161533 | 49161294 | 49161294 | Missense_Mutation | C | G | p.G1222R |
| OVK18_OVARY | 49161161 | 49161533 | 49161294 | 49161294 | Missense_Mutation | C | G | p.G1222R |
| ECC10_STOMACH | 49161161 | 49161533 | 49161294 | 49161294 | Missense_Mutation | C | G | p.G1222R |
| HUO9_BONE | 49161161 | 49161533 | 49161294 | 49161294 | Missense_Mutation | C | G | p.G1222R |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49161161 | 49161533 | 49161375 | 49161375 | Missense_Mutation | C | T | p.G1195R |
| NCIH2887_LUNG | 49161161 | 49161533 | 49161384 | 49161384 | Missense_Mutation | C | A | p.A1192S |
| HEC1B_ENDOMETRIUM | 49161161 | 49161533 | 49161396 | 49161396 | Missense_Mutation | G | T | p.H1188N |
| M14_SKIN | 49161161 | 49161533 | 49161405 | 49161405 | Missense_Mutation | G | A | p.P1185S |
| MDAMB435S_SKIN | 49161161 | 49161533 | 49161405 | 49161405 | Missense_Mutation | G | A | p.P1185S |
| MZ7MEL_SKIN | 49161623 | 49161719 | 49161653 | 49161653 | Missense_Mutation | G | A | p.H1132Y |
| HLE_LIVER | 49161623 | 49161719 | 49161697 | 49161697 | Missense_Mutation | C | A | p.R1117L |
| HLF_LIVER | 49161623 | 49161719 | 49161697 | 49161697 | Missense_Mutation | C | A | p.R1117L |
| RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49162134 | 49162358 | 49162155 | 49162155 | Missense_Mutation | C | T | p.A1030T |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49162134 | 49162358 | 49162185 | 49162185 | Missense_Mutation | C | T | p.A1020T |
| IM9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49162134 | 49162358 | 49162247 | 49162247 | Missense_Mutation | G | C | p.A999G |
| HEC108_ENDOMETRIUM | 49162134 | 49162358 | 49162338 | 49162338 | Missense_Mutation | C | G | p.A969P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 49162686 | 49162917 | 49162711 | 49162711 | Missense_Mutation | G | A | p.H899Y |
| HEC59_ENDOMETRIUM | 49162686 | 49162917 | 49162788 | 49162788 | Missense_Mutation | C | A | p.S873I |
| OV17R_OVARY | 49162686 | 49162917 | 49162818 | 49162818 | Missense_Mutation | C | G | p.R863P |
| LS411N_LARGE_INTESTINE | 49162686 | 49162917 | 49162866 | 49162866 | Missense_Mutation | C | T | p.S847N |
| D392MG_CENTRAL_NERVOUS_SYSTEM | 49163180 | 49163323 | 49163209 | 49163209 | Missense_Mutation | T | A | p.Y820F |
| MDST8_LARGE_INTESTINE | 49163180 | 49163323 | 49163225 | 49163225 | Missense_Mutation | G | A | p.L815F |
| SNU1040_LARGE_INTESTINE | 49163180 | 49163323 | 49163237 | 49163237 | Missense_Mutation | G | A | p.R811C |
| OVTOKO_OVARY | 49163180 | 49163323 | 49163239 | 49163239 | Missense_Mutation | C | T | p.G810E |
| SW684_SOFT_TISSUE | 49163180 | 49163323 | 49163290 | 49163290 | Missense_Mutation | G | A | p.S793F |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49163400 | 49163592 | 49163403 | 49163403 | Missense_Mutation | G | T | p.L781M |
| LAMA84_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49163400 | 49163592 | 49163525 | 49163525 | Missense_Mutation | C | T | p.R740H |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49163400 | 49163592 | 49163576 | 49163576 | Missense_Mutation | C | T | p.R723H |
| SNU175_LARGE_INTESTINE | 49165891 | 49166018 | 49165921 | 49165921 | Missense_Mutation | C | T | p.R663H |
| SKN_ENDOMETRIUM | 49165891 | 49166018 | 49165922 | 49165922 | Missense_Mutation | G | A | p.R663C |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49165891 | 49166018 | 49165991 | 49165991 | Missense_Mutation | G | C | p.L640V |
| DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49165891 | 49166018 | 49166009 | 49166009 | Missense_Mutation | G | T | p.Q634K |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49165891 | 49166018 | 49166010 | 49166010 | Missense_Mutation | C | A | p.E633D |
| CA922_UPPER_AERODIGESTIVE_TRACT | 49167664 | 49167852 | 49167682 | 49167682 | Missense_Mutation | C | T | p.D403N |
| PEDS005TPFAD_KIDNEY | 49167664 | 49167852 | 49167771 | 49167771 | Missense_Mutation | A | G | p.V373A |
| SJSA1_BONE | 49167664 | 49167852 | 49167805 | 49167805 | Missense_Mutation | C | T | p.V362I |
| HEC6_ENDOMETRIUM | 49168173 | 49168293 | 49168182 | 49168182 | Missense_Mutation | C | T | p.A343T |
| CAOV3_OVARY | 49168173 | 49168293 | 49168194 | 49168194 | Missense_Mutation | C | T | p.G339S |
| MFM223_BREAST | 49168173 | 49168293 | 49168194 | 49168194 | Missense_Mutation | C | G | p.G339R |
| SARC9371_BONE | 49168173 | 49168293 | 49168214 | 49168214 | Missense_Mutation | G | A | p.P332L |
| GCT_SOFT_TISSUE | 49168173 | 49168293 | 49168275 | 49168275 | Missense_Mutation | A | T | p.C312S |
| HS737T_FIBROBLAST | 49168173 | 49168293 | 49168287 | 49168287 | Missense_Mutation | C | T | p.G308R |
| BCPAP_THYROID | 49168968 | 49169156 | 49169035 | 49169035 | Missense_Mutation | G | C | p.P194R |
| DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49168968 | 49169156 | 49169035 | 49169035 | Missense_Mutation | G | C | p.P194R |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49168968 | 49169156 | 49169089 | 49169089 | Missense_Mutation | C | T | p.R176Q |
| SNU1040_LARGE_INTESTINE | 49168968 | 49169156 | 49169149 | 49169149 | Missense_Mutation | C | T | p.R156H |
| HCT116_LARGE_INTESTINE | 49169924 | 49170096 | 49169974 | 49169974 | Missense_Mutation | T | C | p.T67A |
| EN_ENDOMETRIUM | 49169924 | 49170096 | 49170015 | 49170015 | Missense_Mutation | T | C | p.D53G |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49169924 | 49170096 | 49170066 | 49170066 | Missense_Mutation | G | A | p.A36V |
| HEC108_ENDOMETRIUM | 49169924 | 49170096 | 49170081 | 49170081 | Missense_Mutation | A | G | p.L31P |
| MIAPACA2_PANCREAS | 49161161 | 49161533 | 49161333 | 49161333 | Nonsense_Mutation | G | A | p.Q1209* |
| BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49161161 | 49161533 | 49161498 | 49161498 | Nonsense_Mutation | G | A | p.Q1154* |
| GSU_STOMACH | 49162134 | 49162358 | 49162149 | 49162149 | Nonsense_Mutation | G | A | p.R1032* |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49162134 | 49162358 | 49162227 | 49162227 | Nonsense_Mutation | G | A | p.Q1006* |
| GP2D_LARGE_INTESTINE | 49162134 | 49162358 | 49162353 | 49162353 | Nonsense_Mutation | G | A | p.R964* |
| NCIH1568_LUNG | 49162686 | 49162917 | 49162823 | 49162823 | Nonsense_Mutation | A | T | p.C861* |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49162686 | 49162917 | 49162861 | 49162861 | Nonsense_Mutation | G | A | p.Q849* |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49161161 | 49161533 | 49161162 | 49161162 | Splice_Site | G | A | p.R1266W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LAMB2 |
| 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 LAMB2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LAMB2 |
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RelatedDrugs for LAMB2 |
| 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 LAMB2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| LAMB2 | C1836876 | Pierson syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
| LAMB2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| LAMB2 | C0268747 | Diffuse mesangial sclerosis (disorder) | 1 | CTD_human;HPO |
| LAMB2 | C3280113 | NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES | 1 | ORPHANET;UNIPROT |
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