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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 LRIG2 |
 Gene summary |
| Gene information | Gene symbol | LRIG2 | Gene ID | 9860 |
| Gene name | leucine rich repeats and immunoglobulin like domains 2 | |
| Synonyms | LIG-2|LIG2|UFS2 | |
| Cytomap | 1p13.2 | |
| Type of gene | protein-coding | |
| Description | leucine-rich repeats and immunoglobulin-like domains protein 2 | |
| Modification date | 20180523 | |
| UniProtAcc | O94898 | |
| Context | PubMed: LRIG2 [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 LRIG2 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 LRIG2 |
| 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 LRIG2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_8982 | 1 | 113643041:113643110:113646230:113646357:113650215:113650379 | 113646230:113646357 | ENSG00000198799.7 | ENST00000466069.1 |
| exon_skip_8983 | 1 | 113650215:113650379:113652863:113653184:113655100:113655382 | 113652863:113653184 | ENSG00000198799.7 | ENST00000466161.1,ENST00000361127.5,ENST00000492207.1 |
| exon_skip_8984 | 1 | 113657048:113657498:113658908:113659058:113661854:113662145 | 113658908:113659058 | ENSG00000198799.7 | ENST00000466161.1,ENST00000361127.5,ENST00000492207.1 |
| exon_skip_8985 | 1 | 113658908:113659058:113661854:113662145:113666496:113667619 | 113661854:113662145 | ENSG00000198799.7 | ENST00000466161.1,ENST00000361127.5,ENST00000492207.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LRIG2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_8982 | 1 | 113643041:113643110:113646230:113646357:113650215:113650379 | 113646230:113646357 | ENSG00000198799.7 | ENST00000466069.1 |
| exon_skip_8983 | 1 | 113650215:113650379:113652863:113653184:113655100:113655382 | 113652863:113653184 | ENSG00000198799.7 | ENST00000361127.5,ENST00000492207.1,ENST00000466161.1 |
| exon_skip_8984 | 1 | 113657048:113657498:113658908:113659058:113661854:113662145 | 113658908:113659058 | ENSG00000198799.7 | ENST00000361127.5,ENST00000492207.1,ENST00000466161.1 |
| exon_skip_8985 | 1 | 113658908:113659058:113661854:113662145:113666496:113667619 | 113661854:113662145 | ENSG00000198799.7 | ENST00000361127.5,ENST00000492207.1,ENST00000466161.1 |
| 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 LRIG2 |
| 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 |
| ENST00000361127 | 113652863 | 113653184 | In-frame |
| ENST00000361127 | 113658908 | 113659058 | In-frame |
| ENST00000361127 | 113661854 | 113662145 | 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 |
| ENST00000361127 | 113652863 | 113653184 | In-frame |
| ENST00000361127 | 113658908 | 113659058 | In-frame |
| ENST00000361127 | 113661854 | 113662145 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LRIG2 |
| 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 |
| ENST00000361127 | 11572 | 1065 | 113652863 | 113653184 | 1676 | 1996 | 492 | 599 |
| ENST00000361127 | 11572 | 1065 | 113658908 | 113659058 | 2729 | 2878 | 843 | 893 |
| ENST00000361127 | 11572 | 1065 | 113661854 | 113662145 | 2879 | 3169 | 893 | 990 |
| 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 |
| ENST00000361127 | 11572 | 1065 | 113652863 | 113653184 | 1676 | 1996 | 492 | 599 |
| ENST00000361127 | 11572 | 1065 | 113658908 | 113659058 | 2729 | 2878 | 843 | 893 |
| ENST00000361127 | 11572 | 1065 | 113661854 | 113662145 | 2879 | 3169 | 893 | 990 |
| 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 |
| O94898 | 492 | 599 | 41 | 1065 | Chain | ID=PRO_0000014829;Note=Leucine-rich repeats and immunoglobulin-like domains protein 2 |
| O94898 | 492 | 599 | 519 | 580 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| O94898 | 492 | 599 | 443 | 494 | Domain | Note=LRRCT |
| O94898 | 492 | 599 | 498 | 597 | Domain | Note=Ig-like C2-type 1 |
| O94898 | 492 | 599 | 514 | 514 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94898 | 492 | 599 | 571 | 571 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94898 | 492 | 599 | 589 | 589 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94898 | 492 | 599 | 41 | 807 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94898 | 843 | 893 | 41 | 1065 | Chain | ID=PRO_0000014829;Note=Leucine-rich repeats and immunoglobulin-like domains protein 2 |
| O94898 | 843 | 893 | 829 | 1065 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94898 | 893 | 990 | 41 | 1065 | Chain | ID=PRO_0000014829;Note=Leucine-rich repeats and immunoglobulin-like domains protein 2 |
| O94898 | 893 | 990 | 906 | 906 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q52KR2 |
| O94898 | 893 | 990 | 829 | 1065 | Topological domain | Note=Cytoplasmic;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 |
| O94898 | 492 | 599 | 41 | 1065 | Chain | ID=PRO_0000014829;Note=Leucine-rich repeats and immunoglobulin-like domains protein 2 |
| O94898 | 492 | 599 | 519 | 580 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| O94898 | 492 | 599 | 443 | 494 | Domain | Note=LRRCT |
| O94898 | 492 | 599 | 498 | 597 | Domain | Note=Ig-like C2-type 1 |
| O94898 | 492 | 599 | 514 | 514 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94898 | 492 | 599 | 571 | 571 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94898 | 492 | 599 | 589 | 589 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94898 | 492 | 599 | 41 | 807 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94898 | 843 | 893 | 41 | 1065 | Chain | ID=PRO_0000014829;Note=Leucine-rich repeats and immunoglobulin-like domains protein 2 |
| O94898 | 843 | 893 | 829 | 1065 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94898 | 893 | 990 | 41 | 1065 | Chain | ID=PRO_0000014829;Note=Leucine-rich repeats and immunoglobulin-like domains protein 2 |
| O94898 | 893 | 990 | 906 | 906 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q52KR2 |
| O94898 | 893 | 990 | 829 | 1065 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for LRIG2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_8983 | 113652864 | 113653184 | 113653086 | 113653086 | Frame_Shift_Del | T | - | p.L567fs |
| LIHC | TCGA-DD-A1EL-01 | exon_skip_8984 | 113658909 | 113659058 | 113658968 | 113658968 | Nonsense_Mutation | G | T | p.E864* |
| LIHC | TCGA-DD-A1EL-01 | exon_skip_8984 | 113658909 | 113659058 | 113658968 | 113658968 | Nonsense_Mutation | G | T | p.E864X |
| LUSC | TCGA-18-5595-01 | exon_skip_8985 | 113661855 | 113662145 | 113661920 | 113661920 | Nonsense_Mutation | C | T | p.R916* |
| STAD | TCGA-BR-4362-01 | exon_skip_8983 | 113652864 | 113653184 | 113653186 | 113653186 | Splice_Site | T | C | p.E600_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| DIPG007_CENTRAL_NERVOUS_SYSTEM | 113652864 | 113653184 | 113652939 | 113652939 | Missense_Mutation | C | T | p.T518M |
| CAL148_BREAST | 113652864 | 113653184 | 113653013 | 113653013 | Missense_Mutation | G | A | p.V543M |
| DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113652864 | 113653184 | 113653020 | 113653020 | Missense_Mutation | C | T | p.T545I |
| SKMEL30_SKIN | 113658909 | 113659058 | 113658911 | 113658911 | Missense_Mutation | G | A | p.E845K |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113658909 | 113659058 | 113658915 | 113658915 | Missense_Mutation | T | C | p.L846P |
| SW684_SOFT_TISSUE | 113661855 | 113662145 | 113661933 | 113661933 | Missense_Mutation | C | T | p.P920L |
| KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113661855 | 113662145 | 113661942 | 113661942 | Missense_Mutation | A | G | p.Y923C |
| LS411N_LARGE_INTESTINE | 113661855 | 113662145 | 113662059 | 113662059 | Missense_Mutation | C | T | p.P962L |
| MFE296_ENDOMETRIUM | 113661855 | 113662145 | 113662076 | 113662076 | Missense_Mutation | C | T | p.P968S |
| OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113661855 | 113662145 | 113661880 | 113661880 | Nonsense_Mutation | C | A | p.C902* |
| SCLC22H_LUNG | 113661855 | 113662145 | 113661953 | 113661953 | Nonsense_Mutation | G | T | p.E927* |
| SCLC21H_LUNG | 113661855 | 113662145 | 113661953 | 113661953 | Nonsense_Mutation | G | T | p.E927* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRIG2 |
| 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 LRIG2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRIG2 |
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RelatedDrugs for LRIG2 |
| 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 LRIG2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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