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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 LHX8 |
Gene summary |
| Gene information | Gene symbol | LHX8 | Gene ID | 431707 |
| Gene name | LIM homeobox 8 | |
| Synonyms | LHX7 | |
| Cytomap | 1p31.1 | |
| Type of gene | protein-coding | |
| Description | LIM/homeobox protein Lhx8LIM-homeodomain protein Lhx8 | |
| Modification date | 20180519 | |
| UniProtAcc | Q68G74 | |
| Context | PubMed: LHX8 [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 LHX8 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 LHX8 |
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 LHX8 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7311 | 1 | 75606669:75606791:75608802:75609023:75609529:75609633 | 75608802:75609023 | ENSG00000162624.10 | ENST00000294638.5,ENST00000356261.3 |
| exon_skip_7313 | 1 | 75609529:75609633:75614271:75614367:75622577:75622761 | 75614271:75614367 | ENSG00000162624.10 | ENST00000294638.5,ENST00000356261.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LHX8 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7313 | 1 | 75609529:75609633:75614271:75614367:75622577:75622761 | 75614271:75614367 | ENSG00000162624.10 | ENST00000294638.5,ENST00000356261.3 |
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 LHX8 |
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 |
| ENST00000294638 | 75608802 | 75609023 | Frame-shift |
| ENST00000294638 | 75614271 | 75614367 | 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 |
| ENST00000294638 | 75614271 | 75614367 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LHX8 |
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 |
| ENST00000294638 | 2390 | 356 | 75614271 | 75614367 | 1379 | 1474 | 238 | 270 |
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 |
| ENST00000294638 | 2390 | 356 | 75614271 | 75614367 | 1379 | 1474 | 238 | 270 |
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 |
| Q68G74 | 238 | 270 | 1 | 356 | Chain | ID=PRO_0000295810;Note=LIM/homeobox protein Lhx8 |
| Q68G74 | 238 | 270 | 225 | 284 | DNA binding | Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 |
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 |
| Q68G74 | 238 | 270 | 1 | 356 | Chain | ID=PRO_0000295810;Note=LIM/homeobox protein Lhx8 |
| Q68G74 | 238 | 270 | 225 | 284 | DNA binding | Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 |
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SNVs in the skipped exons for LHX8 |
- 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 |
| UCS | TCGA-N5-A59F-01 | exon_skip_7311 | 75608803 | 75609023 | 75608914 | 75608914 | Nonsense_Mutation | C | A | p.C167* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_7311 | 75608803 | 75609023 | 75609017 | 75609017 | Nonsense_Mutation | G | T | p.E202* |
- 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 |
| TE4_OESOPHAGUS | 75608803 | 75609023 | 75608842 | 75608842 | Missense_Mutation | C | G | p.I143M |
| MEWO_SKIN | 75608803 | 75609023 | 75608862 | 75608862 | Missense_Mutation | G | C | p.R150P |
| SISO_CERVIX | 75608803 | 75609023 | 75608874 | 75608874 | Missense_Mutation | G | A | p.G154E |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75608803 | 75609023 | 75608874 | 75608874 | Missense_Mutation | G | A | p.G154E |
| CW2_LARGE_INTESTINE | 75608803 | 75609023 | 75608891 | 75608891 | Missense_Mutation | G | A | p.A160T |
| NCIH1563_LUNG | 75608803 | 75609023 | 75608962 | 75608962 | Missense_Mutation | A | T | p.K183N |
| NUGC2_STOMACH | 75614272 | 75614367 | 75614278 | 75614278 | Missense_Mutation | C | G | p.Q241E |
| NCIH1573_LUNG | 75614272 | 75614367 | 75614287 | 75614287 | Missense_Mutation | T | A | p.F244I |
| HCC366_LUNG | 75614272 | 75614367 | 75614331 | 75614331 | Missense_Mutation | G | T | p.L258F |
| EPLC272H_LUNG | 75614272 | 75614367 | 75614272 | 75614272 | Splice_Site | G | A | p.V239I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LHX8 |
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 LHX8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LHX8 |
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RelatedDrugs for LHX8 |
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 LHX8 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |