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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 LAG3 |
Gene summary |
| Gene information | Gene symbol | LAG3 | Gene ID | 3902 |
| Gene name | lymphocyte activating 3 | |
| Synonyms | CD223 | |
| Cytomap | 12p13.31 | |
| Type of gene | protein-coding | |
| Description | lymphocyte activation gene 3 proteinlymphocyte-activation gene 3 | |
| Modification date | 20180506 | |
| UniProtAcc | P18627 | |
| Context | PubMed: LAG3 [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 LAG3 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 LAG3 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for LAG3 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_79658 | 12 | 6882452:6882505:6882862:6883167:6883760:6884030 | 6882862:6883167 | ENSG00000089692.4 | ENST00000441671.2,ENST00000203629.2 |
| exon_skip_79660 | 12 | 6884438:6884714:6886429:6886672:6886956:6887087 | 6886429:6886672 | ENSG00000089692.4 | ENST00000203629.2,ENST00000538079.1 |
| exon_skip_79663 | 12 | 6886429:6886672:6886956:6887087:6887409:6887619 | 6886956:6887087 | ENSG00000089692.4 | ENST00000203629.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LAG3 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_79658 | 12 | 6882452:6882505:6882862:6883167:6883760:6884030 | 6882862:6883167 | ENSG00000089692.4 | ENST00000441671.2,ENST00000203629.2 |
| exon_skip_79660 | 12 | 6884438:6884714:6886429:6886672:6886956:6887087 | 6886429:6886672 | ENSG00000089692.4 | ENST00000538079.1,ENST00000203629.2 |
| exon_skip_79663 | 12 | 6886429:6886672:6886956:6887087:6887409:6887619 | 6886956:6887087 | ENSG00000089692.4 | ENST00000203629.2 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for LAG3 |
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 |
| ENST00000203629 | 6882862 | 6883167 | Frame-shift |
| ENST00000203629 | 6886956 | 6887087 | Frame-shift |
| ENST00000203629 | 6886429 | 6886672 | 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 |
| ENST00000203629 | 6882862 | 6883167 | Frame-shift |
| ENST00000203629 | 6886956 | 6887087 | Frame-shift |
| ENST00000203629 | 6886429 | 6886672 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LAG3 |
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 |
| ENST00000203629 | 1991 | 525 | 6886429 | 6886672 | 1391 | 1633 | 352 | 433 |
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 |
| ENST00000203629 | 1991 | 525 | 6886429 | 6886672 | 1391 | 1633 | 352 | 433 |
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 |
| P18627 | 352 | 433 | 353 | 360 | Alternative sequence | ID=VSP_056311;Note=In isoform 2. VTPKSFGS->GQPQVGKE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P18627 | 352 | 433 | 361 | 525 | Alternative sequence | ID=VSP_056312;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P18627 | 352 | 433 | 29 | 525 | Chain | ID=PRO_0000014631;Note=Lymphocyte activation gene 3 protein |
| P18627 | 352 | 433 | 369 | 412 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| P18627 | 352 | 433 | 348 | 419 | Domain | Note=Ig-like C2-type 3 |
| P18627 | 352 | 433 | 29 | 450 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
| P18627 | 352 | 433 | 353 | 360 | Alternative sequence | ID=VSP_056311;Note=In isoform 2. VTPKSFGS->GQPQVGKE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P18627 | 352 | 433 | 361 | 525 | Alternative sequence | ID=VSP_056312;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P18627 | 352 | 433 | 29 | 525 | Chain | ID=PRO_0000014631;Note=Lymphocyte activation gene 3 protein |
| P18627 | 352 | 433 | 369 | 412 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| P18627 | 352 | 433 | 348 | 419 | Domain | Note=Ig-like C2-type 3 |
| P18627 | 352 | 433 | 29 | 450 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for LAG3 |
- 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 |
| SARC | TCGA-DX-A7EN-01 | exon_skip_79658 | 6882863 | 6883167 | 6882880 | 6882880 | Frame_Shift_Del | C | - | p.G77fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_79660 | 6886430 | 6886672 | 6886589 | 6886589 | Frame_Shift_Del | T | - | p.L406fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_79660 | 6886430 | 6886672 | 6886620 | 6886620 | Frame_Shift_Del | G | - | p.Q416fs |
| LGG | TCGA-P5-A5F4-01 | exon_skip_79658 | 6882863 | 6883167 | 6882941 | 6882942 | Frame_Shift_Ins | - | C | p.SP95fs |
| LUSC | TCGA-66-2785-01 | exon_skip_79660 | 6886430 | 6886672 | 6886553 | 6886553 | Nonsense_Mutation | C | G | p.S394* |
| HNSC | TCGA-CN-5369-01 | exon_skip_79660 | 6886430 | 6886672 | 6886563 | 6886563 | Nonsense_Mutation | G | A | p.W397* |
| KIRC | TCGA-CJ-6027-01 | exon_skip_79663 | 6886957 | 6887087 | 6886962 | 6886962 | Nonsense_Mutation | C | T | p.Q436* |
| KIRC | TCGA-CJ-6027-01 | exon_skip_79663 | 6886957 | 6887087 | 6886962 | 6886962 | Nonsense_Mutation | C | T | p.Q436X |
- 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 |
| MFE296_ENDOMETRIUM | 6882863 | 6883167 | 6882880 | 6882880 | Frame_Shift_Del | C | - | p.A75fs |
| SKCO1_LARGE_INTESTINE | 6882863 | 6883167 | 6882918 | 6882918 | Missense_Mutation | G | C | p.A88P |
| GRANTA519_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6882863 | 6883167 | 6882930 | 6882930 | Missense_Mutation | T | G | p.W92G |
| HCC1937_MATCHED_NORMAL_TISSUE | 6882863 | 6883167 | 6882930 | 6882930 | Missense_Mutation | T | G | p.W92G |
| GIMEN_AUTONOMIC_GANGLIA | 6882863 | 6883167 | 6882951 | 6882951 | Missense_Mutation | T | C | p.Y99H |
| MERO25_LUNG | 6882863 | 6883167 | 6882966 | 6882966 | Missense_Mutation | G | T | p.V104L |
| SKLU1_LUNG | 6882863 | 6883167 | 6883032 | 6883032 | Missense_Mutation | G | A | p.G126S |
| JIMT1_BREAST | 6882863 | 6883167 | 6883033 | 6883033 | Missense_Mutation | G | A | p.G126D |
| C33A_CERVIX | 6882863 | 6883167 | 6883101 | 6883101 | Missense_Mutation | G | A | p.A149T |
| SNU407_LARGE_INTESTINE | 6882863 | 6883167 | 6883125 | 6883125 | Missense_Mutation | G | A | p.A157T |
| NCIH1651_LUNG | 6886430 | 6886672 | 6886523 | 6886523 | Missense_Mutation | C | G | p.S384C |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6886430 | 6886672 | 6886624 | 6886624 | Missense_Mutation | G | A | p.E418K |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6886957 | 6887087 | 6887023 | 6887023 | Missense_Mutation | T | A | p.L456H |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6886957 | 6887087 | 6887026 | 6887026 | Missense_Mutation | G | A | p.G457D |
| SARC9371_BONE | 6886957 | 6887087 | 6887043 | 6887043 | Missense_Mutation | C | T | p.L463F |
| GEO_LARGE_INTESTINE | 6886430 | 6886672 | 6886563 | 6886563 | Nonsense_Mutation | G | A | p.W397* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LAG3 |
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 LAG3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LAG3 |
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RelatedDrugs for LAG3 |
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 LAG3 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |