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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 LAIR2 |
Gene summary |
| Gene information | Gene symbol | LAIR2 | Gene ID | 3904 |
| Gene name | leukocyte associated immunoglobulin like receptor 2 | |
| Synonyms | CD306 | |
| Cytomap | 19q13.42 | |
| Type of gene | protein-coding | |
| Description | leukocyte-associated immunoglobulin-like receptor 2LAIR-2leukocyte-associated Ig-like receptor-2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q6ISS4 | |
| Context | PubMed: LAIR2 [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 LAIR2 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 LAIR2 |
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 LAIR2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_311479 | 19 | 55014122:55014168:55014915:55014951:55019105:55019321 | 55014915:55014951 | ENSG00000167618.5 | ENST00000301202.2,ENST00000351841.2 |
| exon_skip_311480 | 19 | 55014915:55014951:55019105:55019399:55021735:55021897 | 55019105:55019399 | ENSG00000167618.5 | ENST00000351841.2 |
| exon_skip_311482 | 19 | 55019105:55019399:55020244:55020295:55021735:55021897 | 55020244:55020295 | ENSG00000167618.5 | ENST00000301202.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LAIR2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_311479 | 19 | 55014122:55014168:55014915:55014951:55019105:55019321 | 55014915:55014951 | ENSG00000167618.5 | ENST00000301202.2,ENST00000351841.2 |
| exon_skip_311480 | 19 | 55014915:55014951:55019105:55019399:55021735:55021897 | 55019105:55019399 | ENSG00000167618.5 | ENST00000351841.2 |
| exon_skip_311482 | 19 | 55019105:55019399:55020244:55020295:55021735:55021897 | 55020244:55020295 | ENSG00000167618.5 | ENST00000301202.2 |
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 LAIR2 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for LAIR2 |
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 |
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 |
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 |
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 |
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SNVs in the skipped exons for LAIR2 |
- 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 |
| HNSC | TCGA-BA-A6DA-01 | exon_skip_311480 | 55019106 | 55019399 | 55019138 | 55019138 | Frame_Shift_Del | C | - | p.P35fs |
| LUSC | TCGA-18-4083-01 | exon_skip_311480 | 55019106 | 55019399 | 55019216 | 55019216 | Nonsense_Mutation | G | T | p.E61* |
| HNSC | TCGA-CR-7370-01 | exon_skip_311480 | 55019106 | 55019399 | 55019221 | 55019222 | Nonsense_Mutation | GG | TT | p.62_63RE>S* |
| HNSC | TCGA-CR-7370-01 | exon_skip_311480 | 55019106 | 55019399 | 55019222 | 55019222 | Nonsense_Mutation | G | T | p.E63* |
| UCEC | TCGA-B5-A11N-01 | exon_skip_311482 | 55020245 | 55020295 | 55020244 | 55020244 | Splice_Site | G | A | e4-1 |
- 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 |
| NCIH2066_LUNG | 55014916 | 55014951 | 55014930 | 55014930 | Missense_Mutation | C | G | p.Q17E |
| LC1F_LUNG | 55019106 | 55019399 | 55019176 | 55019176 | Missense_Mutation | C | A | p.F47L |
| LC1SQSF_LUNG | 55019106 | 55019399 | 55019176 | 55019176 | Missense_Mutation | C | A | p.F47L |
| LC1SQ_LUNG | 55019106 | 55019399 | 55019176 | 55019176 | Missense_Mutation | C | A | p.F47L |
| R262_CENTRAL_NERVOUS_SYSTEM | 55019106 | 55019399 | 55019188 | 55019189 | Missense_Mutation | CC | AT | p.P52S |
| U251MG_CENTRAL_NERVOUS_SYSTEM | 55019106 | 55019399 | 55019189 | 55019189 | Missense_Mutation | C | T | p.P52S |
| RH1_SOFT_TISSUE | 55019106 | 55019399 | 55019241 | 55019241 | Missense_Mutation | A | T | p.K69I |
| KNS60_CENTRAL_NERVOUS_SYSTEM | 55019106 | 55019399 | 55019276 | 55019276 | Missense_Mutation | G | C | p.E81Q |
| BHY_UPPER_AERODIGESTIVE_TRACT | 55019106 | 55019399 | 55019282 | 55019282 | Missense_Mutation | G | C | p.E83Q |
| DU4475_BREAST | 55019106 | 55019399 | 55019333 | 55019333 | Missense_Mutation | C | T | p.R100C |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55019106 | 55019399 | 55019358 | 55019358 | Missense_Mutation | G | A | p.G108E |
| HS695T_SKIN | 55020245 | 55020295 | 55020254 | 55020254 | Missense_Mutation | G | A | p.G125E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LAIR2 |
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 LAIR2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LAIR2 |
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RelatedDrugs for LAIR2 |
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 LAIR2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |