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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 LRRC7 |
 Gene summary |
| Gene information | Gene symbol | LRRC7 | Gene ID | 57554 |
| Gene name | leucine rich repeat containing 7 | |
| Synonyms | DENSIN | |
| Cytomap | 1p31.1 | |
| Type of gene | protein-coding | |
| Description | leucine-rich repeat-containing protein 7densin-180 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96NW7 | |
| Context | PubMed: LRRC7 [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 LRRC7 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 LRRC7 |
| 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 LRRC7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7204 | 1 | 70144063:70144161:70181824:70181901:70225873:70226076 | 70181824:70181901 | ENSG00000033122.14 | ENST00000310961.5 |
| exon_skip_7206 | 1 | 70486687:70486812:70488808:70489057:70493853:70494054 | 70488808:70489057 | ENSG00000033122.14 | ENST00000035383.5,ENST00000310961.5 |
| exon_skip_7207 | 1 | 70493853:70494054:70501803:70501915:70502126:70502307 | 70501803:70501915 | ENSG00000033122.14 | ENST00000035383.5,ENST00000310961.5 |
| exon_skip_7210 | 1 | 70503795:70505476:70509636:70509777:70518708:70518828 | 70509636:70509777 | ENSG00000033122.14 | ENST00000415775.2,ENST00000035383.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LRRC7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7204 | 1 | 70144063:70144161:70181824:70181901:70225873:70226076 | 70181824:70181901 | ENSG00000033122.14 | ENST00000310961.5 |
| exon_skip_7206 | 1 | 70486687:70486812:70488808:70489057:70493853:70494054 | 70488808:70489057 | ENSG00000033122.14 | ENST00000310961.5,ENST00000035383.5 |
| exon_skip_7207 | 1 | 70493853:70494054:70501803:70501915:70502126:70502307 | 70501803:70501915 | ENSG00000033122.14 | ENST00000310961.5,ENST00000035383.5 |
| exon_skip_7210 | 1 | 70503795:70505476:70509636:70509777:70518708:70518828 | 70509636:70509777 | ENSG00000033122.14 | ENST00000035383.5,ENST00000415775.2 |
| exon_skip_7211 | 1 | 70594220:70594478:70595810:70595939:70603792:70603967 | 70595810:70595939 | ENSG00000033122.14 | ENST00000609498.1 |
| exon_skip_7212 | 1 | 70595810:70595939:70597885:70597971:70603792:70603967 | 70597885:70597971 | ENSG00000033122.14 | ENST00000608815.1,ENST00000609072.1 |
| exon_skip_7213 | 1 | 70603792:70603967:70606225:70606297:70607879:70607936 | 70606225:70606297 | ENSG00000033122.14 | ENST00000608744.1,ENST00000609072.1 |
| 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 LRRC7 |
| 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 |
| ENST00000035383 | 70501803 | 70501915 | Frame-shift |
| ENST00000035383 | 70488808 | 70489057 | In-frame |
| ENST00000035383 | 70509636 | 70509777 | 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 |
| ENST00000035383 | 70501803 | 70501915 | Frame-shift |
| ENST00000035383 | 70488808 | 70489057 | In-frame |
| ENST00000035383 | 70509636 | 70509777 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LRRC7 |
| 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 |
| ENST00000035383 | 5017 | 1537 | 70488808 | 70489057 | 1462 | 1710 | 477 | 560 |
| ENST00000035383 | 5017 | 1537 | 70509636 | 70509777 | 3886 | 4026 | 1285 | 1332 |
| 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 |
| ENST00000035383 | 5017 | 1537 | 70488808 | 70489057 | 1462 | 1710 | 477 | 560 |
| ENST00000035383 | 5017 | 1537 | 70509636 | 70509777 | 3886 | 4026 | 1285 | 1332 |
| 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 |
| Q96NW7 | 477 | 560 | 180 | 1537 | Alternative sequence | ID=VSP_010796;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12525888;Dbxref=PMID:12525888 |
| Q96NW7 | 477 | 560 | 1 | 1537 | Chain | ID=PRO_0000188298;Note=Leucine-rich repeat-containing protein 7 |
| Q96NW7 | 1285 | 1332 | 180 | 1537 | Alternative sequence | ID=VSP_010796;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12525888;Dbxref=PMID:12525888 |
| Q96NW7 | 1285 | 1332 | 1286 | 1332 | Alternative sequence | ID=VSP_010797;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10718198;Dbxref=PMID:10718198 |
| Q96NW7 | 1285 | 1332 | 1 | 1537 | Chain | ID=PRO_0000188298;Note=Leucine-rich repeat-containing protein 7 |
| 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 |
| Q96NW7 | 477 | 560 | 180 | 1537 | Alternative sequence | ID=VSP_010796;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12525888;Dbxref=PMID:12525888 |
| Q96NW7 | 477 | 560 | 1 | 1537 | Chain | ID=PRO_0000188298;Note=Leucine-rich repeat-containing protein 7 |
| Q96NW7 | 1285 | 1332 | 180 | 1537 | Alternative sequence | ID=VSP_010796;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12525888;Dbxref=PMID:12525888 |
| Q96NW7 | 1285 | 1332 | 1286 | 1332 | Alternative sequence | ID=VSP_010797;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10718198;Dbxref=PMID:10718198 |
| Q96NW7 | 1285 | 1332 | 1 | 1537 | Chain | ID=PRO_0000188298;Note=Leucine-rich repeat-containing protein 7 |
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SNVs in the skipped exons for LRRC7 |
| - 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-G3-A3CJ-01 | exon_skip_7206 | 70488809 | 70489057 | 70488934 | 70488934 | Frame_Shift_Del | C | - | p.V524fs |
| LUAD | TCGA-55-1596-01 | exon_skip_7206 | 70488809 | 70489057 | 70488886 | 70488886 | Nonsense_Mutation | C | A | p.C503* |
| LUAD | TCGA-55-1596-01 | exon_skip_7206 | 70488809 | 70489057 | 70488886 | 70488886 | Nonsense_Mutation | C | A | p.C508* |
| BLCA | TCGA-BT-A20T-01 | exon_skip_7206 | 70488809 | 70489057 | 70488897 | 70488897 | Nonsense_Mutation | G | A | p.W507* |
| BLCA | TCGA-BT-A20T-01 | exon_skip_7206 | 70488809 | 70489057 | 70488897 | 70488897 | Nonsense_Mutation | G | A | p.W512* |
| STAD | TCGA-D7-A74B-01 | exon_skip_7207 | 70501804 | 70501915 | 70501916 | 70501916 | Splice_Site | G | A | . |
| - 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 |
| PK1_PANCREAS | 70488809 | 70489057 | 70488812 | 70488812 | Missense_Mutation | C | A | p.L479I |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70488809 | 70489057 | 70488831 | 70488831 | Missense_Mutation | G | T | p.W485L |
| SBC3_LUNG | 70488809 | 70489057 | 70488833 | 70488833 | Missense_Mutation | G | A | p.E486K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 70488809 | 70489057 | 70488835 | 70488835 | Missense_Mutation | A | C | p.E486D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70488809 | 70489057 | 70488835 | 70488835 | Missense_Mutation | A | C | p.E486D |
| HS944T_SKIN | 70488809 | 70489057 | 70488935 | 70488935 | Missense_Mutation | C | T | p.P520S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 70488809 | 70489057 | 70488942 | 70488942 | Missense_Mutation | A | G | p.N522S |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70488809 | 70489057 | 70488942 | 70488942 | Missense_Mutation | A | G | p.N522S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70488809 | 70489057 | 70488942 | 70488942 | Missense_Mutation | A | G | p.N522S |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70488809 | 70489057 | 70488942 | 70488942 | Missense_Mutation | A | G | p.N522S |
| SNU81_LARGE_INTESTINE | 70501804 | 70501915 | 70501888 | 70501888 | Missense_Mutation | C | T | p.L656F |
| EN_ENDOMETRIUM | 70509637 | 70509777 | 70509702 | 70509702 | Missense_Mutation | G | A | p.M1307I |
| NCIBL1395_MATCHED_NORMAL_TISSUE | 70509637 | 70509777 | 70509710 | 70509710 | Missense_Mutation | G | C | p.G1310A |
| NCIH1395_LUNG | 70509637 | 70509777 | 70509710 | 70509710 | Missense_Mutation | G | C | p.G1310A |
| LIM1215_LARGE_INTESTINE | 70509637 | 70509777 | 70509720 | 70509720 | Missense_Mutation | G | A | p.M1313I |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 70509637 | 70509777 | 70509755 | 70509755 | Missense_Mutation | A | T | p.H1325L |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70509637 | 70509777 | 70509755 | 70509755 | Missense_Mutation | A | T | p.H1325L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 70509637 | 70509777 | 70509762 | 70509762 | Missense_Mutation | A | C | p.E1327D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70509637 | 70509777 | 70509762 | 70509762 | Missense_Mutation | A | C | p.E1327D |
| RKO_LARGE_INTESTINE | 70509637 | 70509777 | 70509769 | 70509769 | Missense_Mutation | C | T | p.L1330F |
| SBC1_LUNG | 70488809 | 70489057 | 70488889 | 70488889 | Nonsense_Mutation | C | A | p.C504* |
| HC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70488809 | 70489057 | 70489055 | 70489055 | Nonsense_Mutation | C | T | p.Q560* |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70488809 | 70489057 | 70488810 | 70488810 | Splice_Site | A | C | p.D478A |
| HCC461_LUNG | 70501804 | 70501915 | 70501914 | 70501914 | Splice_Site | A | T | p.K664N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRRC7 |
| 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 LRRC7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRRC7 |
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RelatedDrugs for LRRC7 |
| 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 LRRC7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| LRRC7 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
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