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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 LRRC36 |
 Gene summary |
| Gene information | Gene symbol | LRRC36 | Gene ID | 55282 |
| Gene name | leucine rich repeat containing 36 | |
| Synonyms | RORBP70|XLHSRF2 | |
| Cytomap | 16q22.1 | |
| Type of gene | protein-coding | |
| Description | leucine-rich repeat-containing protein 36ROR gamma binding protein 70heat shock regulated 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q1X8D7 | |
| Context | PubMed: LRRC36 [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 LRRC36 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 LRRC36 |
| 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 LRRC36 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_137720 | 16 | 67381397:67381494:67382383:67382505:67384104:67384193 | 67382383:67382505 | ENSG00000159708.13 | ENST00000563303.1 |
| exon_skip_137721 | 16 | 67381397:67381494:67384104:67384193:67397492:67397508 | 67384104:67384193 | ENSG00000159708.13 | ENST00000565019.2,ENST00000435835.3,ENST00000541146.1,ENST00000569228.2,ENST00000568010.1,ENST00000569499.2,ENST00000568804.2,ENST00000563189.1,ENST00000570075.1,ENST00000329956.6 |
| exon_skip_137722 | 16 | 67381397:67381494:67384104:67384193:67409149:67409315 | 67384104:67384193 | ENSG00000159708.13 | ENST00000567823.1 |
| exon_skip_137728 | 16 | 67384104:67384193:67396086:67396208:67397492:67397508 | 67396086:67396208 | ENSG00000159708.13 | ENST00000290940.7,ENST00000567723.1 |
| exon_skip_137731 | 16 | 67397492:67397617:67399206:67399258:67400919:67401360 | 67399206:67399258 | ENSG00000159708.13 | ENST00000435835.3,ENST00000561821.1,ENST00000563189.1,ENST00000329956.6 |
| exon_skip_137735 | 16 | 67397492:67397617:67400919:67401360:67404846:67405145 | 67400919:67401360 | ENSG00000159708.13 | ENST00000290940.7,ENST00000567723.1 |
| exon_skip_137740 | 16 | 67399206:67399258:67400919:67401360:67404846:67405145 | 67400919:67401360 | ENSG00000159708.13 | ENST00000435835.3,ENST00000563189.1,ENST00000329956.6 |
| exon_skip_137748 | 16 | 67404900:67405145:67409149:67409315:67412491:67412615 | 67409149:67409315 | ENSG00000159708.13 | ENST00000290940.7,ENST00000567723.1 |
| exon_skip_137749 | 16 | 67404900:67405145:67409160:67409315:67412491:67412615 | 67409160:67409315 | ENSG00000159708.13 | ENST00000541146.1,ENST00000568010.1 |
| exon_skip_137751 | 16 | 67409217:67409315:67410629:67410775:67412491:67412615 | 67410629:67410775 | ENSG00000159708.13 | ENST00000565019.2,ENST00000567823.1,ENST00000563189.1,ENST00000329956.6 |
| exon_skip_137754 | 16 | 67409217:67409315:67412491:67412615:67416035:67416150 | 67412491:67412615 | ENSG00000159708.13 | ENST00000541146.1,ENST00000290940.7,ENST00000567723.1,ENST00000568010.1 |
| exon_skip_137757 | 16 | 67410629:67410775:67412491:67412615:67416035:67416150 | 67412491:67412615 | ENSG00000159708.13 | ENST00000565019.2,ENST00000567823.1,ENST00000563189.1,ENST00000329956.6 |
| exon_skip_137760 | 16 | 67412491:67412615:67416035:67416150:67418772:67419028 | 67416035:67416150 | ENSG00000159708.13 | ENST00000565019.2,ENST00000435835.3,ENST00000541146.1,ENST00000290940.7,ENST00000567723.1,ENST00000568010.1,ENST00000567823.1,ENST00000563189.1,ENST00000329956.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LRRC36 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_137714 | 16 | 67360785:67360835:67370543:67370633:67375859:67375987 | 67370543:67370633 | ENSG00000159708.13 | ENST00000565019.2 |
| exon_skip_137715 | 16 | 67360746:67360835:67375859:67375987:67380158:67380351 | 67375859:67375987 | ENSG00000159708.13 | ENST00000329956.6,ENST00000569228.2 |
| exon_skip_137717 | 16 | 67360746:67360835:67375885:67375987:67380158:67380351 | 67375885:67375987 | ENSG00000159708.13 | ENST00000569499.2 |
| exon_skip_137720 | 16 | 67381397:67381494:67382383:67382505:67384104:67384193 | 67382383:67382505 | ENSG00000159708.13 | ENST00000563303.1 |
| exon_skip_137721 | 16 | 67381397:67381494:67384104:67384193:67397492:67397508 | 67384104:67384193 | ENSG00000159708.13 | ENST00000570075.1,ENST00000569499.2,ENST00000329956.6,ENST00000569228.2,ENST00000565019.2,ENST00000568804.2,ENST00000568010.1,ENST00000541146.1,ENST00000563189.1,ENST00000435835.3 |
| exon_skip_137722 | 16 | 67381397:67381494:67384104:67384193:67409149:67409315 | 67384104:67384193 | ENSG00000159708.13 | ENST00000567823.1 |
| exon_skip_137728 | 16 | 67384104:67384193:67396086:67396208:67397492:67397508 | 67396086:67396208 | ENSG00000159708.13 | ENST00000567723.1,ENST00000290940.7 |
| exon_skip_137731 | 16 | 67397492:67397617:67399206:67399258:67400919:67401360 | 67399206:67399258 | ENSG00000159708.13 | ENST00000329956.6,ENST00000563189.1,ENST00000561821.1,ENST00000435835.3 |
| exon_skip_137735 | 16 | 67397492:67397617:67400919:67401360:67404846:67405145 | 67400919:67401360 | ENSG00000159708.13 | ENST00000567723.1,ENST00000290940.7 |
| exon_skip_137740 | 16 | 67399206:67399258:67400919:67401360:67404846:67405145 | 67400919:67401360 | ENSG00000159708.13 | ENST00000329956.6,ENST00000563189.1,ENST00000435835.3 |
| exon_skip_137748 | 16 | 67404900:67405145:67409149:67409315:67412491:67412615 | 67409149:67409315 | ENSG00000159708.13 | ENST00000567723.1,ENST00000290940.7 |
| exon_skip_137749 | 16 | 67404900:67405145:67409160:67409315:67412491:67412615 | 67409160:67409315 | ENSG00000159708.13 | ENST00000568010.1,ENST00000541146.1 |
| exon_skip_137751 | 16 | 67409217:67409315:67410629:67410775:67412491:67412615 | 67410629:67410775 | ENSG00000159708.13 | ENST00000329956.6,ENST00000565019.2,ENST00000563189.1,ENST00000567823.1 |
| exon_skip_137754 | 16 | 67409217:67409315:67412491:67412615:67416035:67416150 | 67412491:67412615 | ENSG00000159708.13 | ENST00000568010.1,ENST00000541146.1,ENST00000567723.1,ENST00000290940.7 |
| exon_skip_137757 | 16 | 67410629:67410775:67412491:67412615:67416035:67416150 | 67412491:67412615 | ENSG00000159708.13 | ENST00000329956.6,ENST00000565019.2,ENST00000563189.1,ENST00000567823.1 |
| exon_skip_137760 | 16 | 67412491:67412615:67416035:67416150:67418772:67419028 | 67416035:67416150 | ENSG00000159708.13 | ENST00000329956.6,ENST00000565019.2,ENST00000568010.1,ENST00000541146.1,ENST00000567723.1,ENST00000563189.1,ENST00000290940.7,ENST00000567823.1,ENST00000435835.3 |
| 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 LRRC36 |
| 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 |
| ENST00000329956 | 67384104 | 67384193 | Frame-shift |
| ENST00000329956 | 67399206 | 67399258 | Frame-shift |
| ENST00000329956 | 67410629 | 67410775 | Frame-shift |
| ENST00000329956 | 67412491 | 67412615 | Frame-shift |
| ENST00000329956 | 67416035 | 67416150 | Frame-shift |
| ENST00000329956 | 67400919 | 67401360 | 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 |
| ENST00000329956 | 67375859 | 67375987 | Frame-shift |
| ENST00000329956 | 67384104 | 67384193 | Frame-shift |
| ENST00000329956 | 67399206 | 67399258 | Frame-shift |
| ENST00000329956 | 67410629 | 67410775 | Frame-shift |
| ENST00000329956 | 67412491 | 67412615 | Frame-shift |
| ENST00000329956 | 67416035 | 67416150 | Frame-shift |
| ENST00000329956 | 67400919 | 67401360 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LRRC36 |
| 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 |
| ENST00000329956 | 2412 | 754 | 67400919 | 67401360 | 774 | 1214 | 251 | 398 |
| 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 |
| ENST00000329956 | 2412 | 754 | 67400919 | 67401360 | 774 | 1214 | 251 | 398 |
| 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 |
| Q1X8D7 | 251 | 398 | 1 | 754 | Chain | ID=PRO_0000275855;Note=Leucine-rich repeat-containing protein 36 |
| 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 |
| Q1X8D7 | 251 | 398 | 1 | 754 | Chain | ID=PRO_0000275855;Note=Leucine-rich repeat-containing protein 36 |
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SNVs in the skipped exons for LRRC36 |
| - 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-A1EG-01 | exon_skip_137740 exon_skip_137735 | 67400920 | 67401360 | 67400996 | 67400996 | Frame_Shift_Del | T | - | p.S277fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_137740 exon_skip_137735 | 67400920 | 67401360 | 67401031 | 67401031 | Frame_Shift_Del | A | - | p.E289fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_137751 | 67410630 | 67410775 | 67410726 | 67410726 | Frame_Shift_Del | G | - | p.R587fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_137754 exon_skip_137757 | 67412492 | 67412615 | 67412533 | 67412533 | Frame_Shift_Del | C | - | p.N616fs |
| BLCA | TCGA-ZF-A9RD-01 | exon_skip_137740 exon_skip_137735 | 67400920 | 67401360 | 67400955 | 67400955 | Nonsense_Mutation | C | T | p.R264* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_137740 exon_skip_137735 | 67400920 | 67401360 | 67401082 | 67401082 | Nonsense_Mutation | C | A | p.S306* |
| STAD | TCGA-D7-A74A-01 | exon_skip_137749 exon_skip_137748 | 67409150 | 67409315 | 67409242 | 67409242 | Nonsense_Mutation | C | G | p.S50* |
| STAD | TCGA-D7-A74A-01 | exon_skip_137749 exon_skip_137748 | 67409161 | 67409315 | 67409242 | 67409242 | Nonsense_Mutation | C | G | p.S50* |
| CESC | TCGA-EK-A3GK-01 | exon_skip_137751 | 67410630 | 67410775 | 67410677 | 67410677 | Nonsense_Mutation | C | T | p.Q570* |
| UCEC | TCGA-BS-A0UM-01 | exon_skip_137731 | 67399207 | 67399258 | 67399260 | 67399260 | Splice_Site | T | C | e7+2 |
| UCEC | TCGA-BS-A0UM-01 | exon_skip_137731 | 67399207 | 67399258 | 67399260 | 67399260 | Splice_Site | T | C | p.E252_splice |
| KIRC | TCGA-B8-4621-01 | exon_skip_137740 exon_skip_137735 | 67400920 | 67401360 | 67401361 | 67401361 | Splice_Site | G | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-B8-4621-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_137735 | |
| Skipped exon start: 67400920 | |
| Skipped exon end: 67401360 | |
| Mutation start: 67401361 | |
| Mutation end: 67401361 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_137740_KIRC_TCGA-B8-4621-01.png | |
exon_skip_293444_KIRC_TCGA-B8-4621-01.png | |
| - 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 |
| LNCAPCLONEFGC_PROSTATE | 67384105 | 67384193 | 67384126 | 67384126 | Missense_Mutation | A | T | p.K170N |
| SNU81_LARGE_INTESTINE | 67384105 | 67384193 | 67384127 | 67384127 | Missense_Mutation | A | C | p.N171H |
| HEC251_ENDOMETRIUM | 67399207 | 67399258 | 67399244 | 67399244 | Missense_Mutation | A | C | p.N247T |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67400920 | 67401360 | 67400956 | 67400956 | Missense_Mutation | G | C | p.R264P |
| DMS454_LUNG | 67400920 | 67401360 | 67401022 | 67401022 | Missense_Mutation | C | T | p.S286F |
| NCIH1573_LUNG | 67400920 | 67401360 | 67401066 | 67401066 | Missense_Mutation | C | G | p.L301V |
| NCIH2110_LUNG | 67400920 | 67401360 | 67401150 | 67401150 | Missense_Mutation | G | T | p.G329C |
| SARC9371_BONE | 67400920 | 67401360 | 67401172 | 67401172 | Missense_Mutation | G | A | p.C336Y |
| LNCAPCLONEFGC_PROSTATE | 67400920 | 67401360 | 67401256 | 67401256 | Missense_Mutation | C | A | p.P364H |
| JHH1_LIVER | 67409161 | 67409315 | 67409178 | 67409178 | Missense_Mutation | A | C | p.H508P |
| JHH1_LIVER | 67409150 | 67409315 | 67409178 | 67409178 | Missense_Mutation | A | C | p.H508P |
| NCIH661_LUNG | 67409161 | 67409315 | 67409202 | 67409202 | Missense_Mutation | C | T | p.P516L |
| NCIH661_LUNG | 67409150 | 67409315 | 67409202 | 67409202 | Missense_Mutation | C | T | p.P516L |
| PEDS015T_SOFT_TISSUE | 67409161 | 67409315 | 67409248 | 67409248 | Missense_Mutation | G | C | p.Q531H |
| PEDS015T_SOFT_TISSUE | 67409150 | 67409315 | 67409248 | 67409248 | Missense_Mutation | G | C | p.Q531H |
| JHU022_UPPER_AERODIGESTIVE_TRACT | 67409161 | 67409315 | 67409279 | 67409279 | Missense_Mutation | G | T | p.G542C |
| JHU022_UPPER_AERODIGESTIVE_TRACT | 67409150 | 67409315 | 67409279 | 67409279 | Missense_Mutation | G | T | p.G542C |
| SW1710_URINARY_TRACT | 67410630 | 67410775 | 67410681 | 67410681 | Missense_Mutation | C | T | p.P571L |
| RS5_FIBROBLAST | 67412492 | 67412615 | 67412502 | 67412502 | Missense_Mutation | A | C | p.K606T |
| BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67412492 | 67412615 | 67412502 | 67412502 | Missense_Mutation | A | C | p.K606T |
| MDAMB453_BREAST | 67416036 | 67416150 | 67416081 | 67416081 | Missense_Mutation | G | C | p.C659S |
| SARC9371_BONE | 67416036 | 67416150 | 67416137 | 67416137 | Missense_Mutation | C | T | p.H678Y |
| HCC1569_BREAST | 67400920 | 67401360 | 67401095 | 67401095 | Nonsense_Mutation | C | A | p.C310* |
| LNCAPCLONEFGC_PROSTATE | 67384105 | 67384193 | 67384105 | 67384105 | Splice_Site | C | A | p.S163R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRRC36 |
| 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 LRRC36 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRRC36 |
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RelatedDrugs for LRRC36 |
| 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 LRRC36 |
| 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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