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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for LRRC6 |
 Gene summary |
| Gene information | Gene symbol | LRRC6 | Gene ID | 23639 |
| Gene name | leucine rich repeat containing 6 | |
| Synonyms | CILD19|LRTP|TSLRP|tilB | |
| Cytomap | 8q24.22 | |
| Type of gene | protein-coding | |
| Description | protein tilB homologprotein TILB homologseahorsetestis-specific leucine-rich repeat protein | |
| Modification date | 20200314 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for LRRC6 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000129295
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000519595.5 | LRRC6-205:protein_coding:LRRC6 | 3.371565e+00 | 2.093811e+00 | 3.943963e-03 | 1.617002e-02 |
| CB | UP | ENST00000521430.5 | LRRC6-207:lncRNA:LRRC6 | 9.575293e-01 | 9.663491e-01 | 4.210131e-03 | 1.708584e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for LRRC6 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_188205 | chr8 | 132625312:132625454:132632740:132632963:132637935:132638107 | 132632740:132632963 |
| exon_skip_241459 | chr8 | 132638052:132638107:132643374:132643414:132643624:132643686 | 132643374:132643414 |
| exon_skip_273737 | chr8 | 132611294:132611363:132615038:132615097:132622611:132622675 | 132615038:132615097 |
| exon_skip_283250 | chr8 | 132572425:132572480:132578408:132578516:132583694:132583775 | 132578408:132578516 |
| exon_skip_41929 | chr8 | 132615038:132615097:132622611:132622688:132625272:132625387 | 132622611:132622688 |
| exon_skip_483 | chr8 | 132611294:132611363:132615038:132615097:132622611:132622688 | 132615038:132615097 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for LRRC6 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000519595 | 132632740 | 132632963 | Frame-shift |
| ENST00000620350 | 132632740 | 132632963 | Frame-shift |
| ENST00000519595 | 132615038 | 132615097 | In-frame |
| ENST00000620350 | 132615038 | 132615097 | In-frame |
| ENST00000519595 | 132622611 | 132622688 | In-frame |
| ENST00000620350 | 132622611 | 132622688 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000519595 | 132632740 | 132632963 | Frame-shift |
| ENST00000620350 | 132632740 | 132632963 | Frame-shift |
| ENST00000519595 | 132615038 | 132615097 | In-frame |
| ENST00000620350 | 132615038 | 132615097 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000519595 | 132632740 | 132632963 | Frame-shift |
| ENST00000620350 | 132632740 | 132632963 | Frame-shift |
| ENST00000519595 | 132615038 | 132615097 | In-frame |
| ENST00000620350 | 132615038 | 132615097 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LRRC6 |
p-ENSG00000129295_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000519595 | 1753 | 466 | 132622611 | 132622688 | 936 | 1012 | 279 | 304 |
| ENST00000620350 | 1895 | 466 | 132622611 | 132622688 | 961 | 1037 | 279 | 304 |
| ENST00000519595 | 1753 | 466 | 132615038 | 132615097 | 1014 | 1072 | 305 | 324 |
| ENST00000620350 | 1895 | 466 | 132615038 | 132615097 | 1039 | 1097 | 305 | 324 |
| Loci of skipped exons in MSBB 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 |
| ENST00000519595 | 1753 | 466 | 132615038 | 132615097 | 1014 | 1072 | 305 | 324 |
| ENST00000620350 | 1895 | 466 | 132615038 | 132615097 | 1039 | 1097 | 305 | 324 |
| Loci of skipped exons in Mayo 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 |
| ENST00000519595 | 1753 | 466 | 132615038 | 132615097 | 1014 | 1072 | 305 | 324 |
| ENST00000620350 | 1895 | 466 | 132615038 | 132615097 | 1039 | 1097 | 305 | 324 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q86X45 | 279 | 304 | 1 | 466 | Chain | ID=PRO_0000084496;Note=Protein tilB homolog |
| Q86X45 | 279 | 304 | 1 | 466 | Chain | ID=PRO_0000084496;Note=Protein tilB homolog |
| Q86X45 | 279 | 304 | 281 | 286 | Compositional bias | Note=Poly-Lys |
| Q86X45 | 279 | 304 | 281 | 286 | Compositional bias | Note=Poly-Lys |
| Q86X45 | 279 | 304 | 301 | 396 | Domain | Note=CS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00547 |
| Q86X45 | 279 | 304 | 301 | 396 | Domain | Note=CS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00547 |
| Q86X45 | 305 | 324 | 1 | 466 | Chain | ID=PRO_0000084496;Note=Protein tilB homolog |
| Q86X45 | 305 | 324 | 1 | 466 | Chain | ID=PRO_0000084496;Note=Protein tilB homolog |
| Q86X45 | 305 | 324 | 301 | 396 | Domain | Note=CS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00547 |
| Q86X45 | 305 | 324 | 301 | 396 | Domain | Note=CS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00547 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q86X45 | 305 | 324 | 1 | 466 | Chain | ID=PRO_0000084496;Note=Protein tilB homolog |
| Q86X45 | 305 | 324 | 1 | 466 | Chain | ID=PRO_0000084496;Note=Protein tilB homolog |
| Q86X45 | 305 | 324 | 301 | 396 | Domain | Note=CS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00547 |
| Q86X45 | 305 | 324 | 301 | 396 | Domain | Note=CS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00547 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q86X45 | 305 | 324 | 1 | 466 | Chain | ID=PRO_0000084496;Note=Protein tilB homolog |
| Q86X45 | 305 | 324 | 1 | 466 | Chain | ID=PRO_0000084496;Note=Protein tilB homolog |
| Q86X45 | 305 | 324 | 301 | 396 | Domain | Note=CS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00547 |
| Q86X45 | 305 | 324 | 301 | 396 | Domain | Note=CS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00547 |
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3'-UTR located exon skipping events that lost miRNA binding sites in LRRC6 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for LRRC6 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for LRRC6 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRRC6 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for LRRC6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | RBM3 | exon_skip_283250 | 4.063787e-01 | 2.580511e-14 |
| HCC | SAMD4A | exon_skip_72659 | -4.749497e-01 | 2.570809e-16 |
| HCC | PTBP1 | exon_skip_72659 | -4.832950e-01 | 6.455720e-17 |
| HCC | HNRNPF | exon_skip_72659 | -4.955712e-01 | 7.886170e-18 |
| HCC | RBM4B | exon_skip_72659 | -4.376521e-01 | 7.959803e-14 |
| HCC | SAMD4A | exon_skip_75285 | -5.062299e-01 | 1.020194e-18 |
| IFG | RBMS3 | exon_skip_483 | 4.391136e-01 | 3.605485e-02 |
| IFG | DAZAP1 | exon_skip_72659 | -4.907538e-01 | 9.346784e-03 |
| IFG | ZNF638 | exon_skip_72659 | -4.413206e-01 | 2.120044e-02 |
| IFG | RBM6 | exon_skip_72659 | -4.669930e-01 | 1.405742e-02 |
| IFG | SAMD4A | exon_skip_72659 | -4.970959e-01 | 8.341740e-03 |
| IFG | CNOT4 | exon_skip_72659 | -4.066658e-01 | 3.528617e-02 |
| IFG | IGF2BP2 | exon_skip_72659 | -4.375107e-01 | 2.247694e-02 |
| IFG | SF1 | exon_skip_72659 | -4.468218e-01 | 1.946231e-02 |
| IFG | PTBP1 | exon_skip_72659 | -4.581999e-01 | 1.623660e-02 |
| PCC | SAMD4A | exon_skip_72659 | -4.118827e-01 | 3.900431e-09 |
| PCC | PTBP1 | exon_skip_72659 | -4.134481e-01 | 3.359874e-09 |
| STG | KHDRBS2 | exon_skip_188205 | -4.133970e-01 | 5.661094e-05 |
| STG | NUP42 | exon_skip_188205 | -4.402865e-01 | 1.577102e-05 |
| TC | RBM3 | exon_skip_283250 | 5.757077e-01 | 2.512379e-15 |
| TC | KHDRBS2 | exon_skip_283250 | 4.649862e-01 | 7.503627e-10 |
| TC | RBM3 | exon_skip_188205 | -4.830383e-01 | 2.638731e-08 |
| TC | IGF2BP2 | exon_skip_188205 | 4.060984e-01 | 4.598804e-06 |
| TC | G3BP2 | exon_skip_188205 | -4.868583e-01 | 1.972954e-08 |
| TC | KHDRBS2 | exon_skip_188205 | -5.558182e-01 | 5.321912e-11 |
| TC | KHDRBS3 | exon_skip_188205 | -4.009574e-01 | 6.217535e-06 |
| TC | NUP42 | exon_skip_188205 | -4.114819e-01 | 3.335401e-06 |
| TC | RALYL | exon_skip_188205 | -5.099950e-01 | 3.135569e-09 |
| TC | PTBP1 | exon_skip_188205 | 4.731056e-01 | 5.528590e-08 |
| TC | NOVA1 | exon_skip_188205 | -5.609630e-01 | 3.237036e-11 |
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RelatedDrugs for LRRC6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for LRRC6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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