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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 LRRC14 |
 Gene summary |
| Gene information | Gene symbol | LRRC14 | Gene ID | 9684 |
| Gene name | leucine rich repeat containing 14 | |
| Synonyms | LRRC14A | |
| Cytomap | 8q24.3 | |
| Type of gene | protein-coding | |
| Description | leucine-rich repeat-containing protein 14 | |
| Modification date | 20180519 | |
| UniProtAcc | Q15048 | |
| Context | PubMed: LRRC14 [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 |
| LRRC14 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 27426725 |
| LRRC14 | GO:0034122 | negative regulation of toll-like receptor signaling pathway | 27426725 |
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Exon skipping events across known transcript of Ensembl for LRRC14 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 LRRC14 |
| 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 LRRC14 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_487847 | 8 | 145743390:145743425:145744132:145744199:145744998:145745438 | 145744132:145744199 | ENSG00000160959.3 | ENST00000529022.1 |
| exon_skip_487856 | 8 | 145743390:145743425:145744998:145745438:145745621:145745771 | 145744998:145745438 | ENSG00000160959.3 | ENST00000292524.1 |
| exon_skip_487863 | 8 | 145748655:145748717:145749019:145749489:145749644:145749667 | 145749019:145749489 | ENSG00000160959.3 | ENST00000528528.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LRRC14 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_487847 | 8 | 145743390:145743425:145744132:145744199:145744998:145745438 | 145744132:145744199 | ENSG00000160959.3 | ENST00000529022.1 |
| exon_skip_487856 | 8 | 145743390:145743425:145744998:145745438:145745621:145745771 | 145744998:145745438 | ENSG00000160959.3 | ENST00000292524.1 |
| exon_skip_487863 | 8 | 145748655:145748717:145749019:145749489:145749644:145749667 | 145749019:145749489 | ENSG00000160959.3 | ENST00000528528.1 |
| 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 LRRC14 |
| 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 |
| ENST00000292524 | 145744998 | 145745438 | 5CDS-5UTR |
| ENST00000529022 | 145744132 | 145744199 | 5UTR-5UTR |
| 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 |
| ENST00000292524 | 145744998 | 145745438 | 5CDS-5UTR |
| ENST00000529022 | 145744132 | 145744199 | 5UTR-5UTR |
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Infer the effects of exon skipping event on protein functional features for LRRC14 |
| 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 LRRC14 |
| - 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 |
| BLCA | TCGA-G2-AA3B-01 | exon_skip_487856 | 145744999 | 145745438 | 145745405 | 145745405 | Nonsense_Mutation | C | G | p.S99* |
| - 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 |
| SNU81_LARGE_INTESTINE | 145744999 | 145745438 | 145745194 | 145745194 | Missense_Mutation | G | A | p.E29K |
| ECC10_STOMACH | 145744999 | 145745438 | 145745233 | 145745233 | Missense_Mutation | A | G | p.K42E |
| OC316_OVARY | 145744999 | 145745438 | 145745235 | 145745235 | Missense_Mutation | G | C | p.K42N |
| OC314_OVARY | 145744999 | 145745438 | 145745235 | 145745235 | Missense_Mutation | G | C | p.K42N |
| HCT116_LARGE_INTESTINE | 145744999 | 145745438 | 145745261 | 145745261 | Missense_Mutation | T | C | p.V51A |
| NH6_AUTONOMIC_GANGLIA | 145744999 | 145745438 | 145745315 | 145745315 | Missense_Mutation | C | T | p.A69V |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145744999 | 145745438 | 145745327 | 145745327 | Missense_Mutation | G | A | p.R73H |
| COV362_OVARY | 145744999 | 145745438 | 145745345 | 145745345 | Missense_Mutation | G | T | p.R79L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRRC14 |
| 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 LRRC14 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRRC14 |
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RelatedDrugs for LRRC14 |
| 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 LRRC14 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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