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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 LRRIQ1 |
 Gene summary |
| Gene information | Gene symbol | LRRIQ1 | Gene ID | 84125 |
| Gene name | leucine rich repeats and IQ motif containing 1 | |
| Synonyms | - | |
| Cytomap | 12q21.31 | |
| Type of gene | protein-coding | |
| Description | leucine-rich repeat and IQ domain-containing protein 1testicular tissue protein Li 111 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96JM4 | |
| Context | PubMed: LRRIQ1 [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 LRRIQ1 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 LRRIQ1 |
| 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 LRRIQ1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85690 | 12 | 85441024:85441248:85445954:85446029:85449324:85449385 | 85445954:85446029 | ENSG00000133640.14 | ENST00000525971.2,ENST00000393217.2 |
| exon_skip_85693 | 12 | 85445954:85446029:85449324:85450962:85459039:85459192 | 85449324:85450962 | ENSG00000133640.14 | ENST00000525971.2,ENST00000393217.2 |
| exon_skip_85694 | 12 | 85460525:85460676:85466684:85466876:85492132:85492326 | 85466684:85466876 | ENSG00000133640.14 | ENST00000525971.2,ENST00000393217.2 |
| exon_skip_85696 | 12 | 85492132:85492326:85492644:85492772:85497781:85497855 | 85492644:85492772 | ENSG00000133640.14 | ENST00000525971.2,ENST00000393217.2 |
| exon_skip_85697 | 12 | 85497781:85497855:85500299:85500393:85515474:85515654 | 85500299:85500393 | ENSG00000133640.14 | ENST00000525971.2,ENST00000393217.2 |
| exon_skip_85698 | 12 | 85521609:85521811:85531627:85531747:85546057:85546147 | 85531627:85531747 | ENSG00000133640.14 | ENST00000393217.2 |
| exon_skip_85700 | 12 | 85547789:85547872:85554390:85554492:85623294:85623427 | 85554390:85554492 | ENSG00000133640.14 | ENST00000393217.2 |
| exon_skip_85701 | 12 | 85554390:85554492:85556540:85556575:85623294:85623427 | 85556540:85556575 | ENSG00000133640.14 | ENST00000528777.3 |
| exon_skip_85703 | 12 | 85623294:85623427:85626473:85626534:85638566:85638687 | 85626473:85626534 | ENSG00000133640.14 | ENST00000528777.3,ENST00000393217.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LRRIQ1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85690 | 12 | 85441024:85441248:85445954:85446029:85449324:85449385 | 85445954:85446029 | ENSG00000133640.14 | ENST00000525971.2,ENST00000393217.2 |
| exon_skip_85693 | 12 | 85445954:85446029:85449324:85450962:85459039:85459192 | 85449324:85450962 | ENSG00000133640.14 | ENST00000525971.2,ENST00000393217.2 |
| exon_skip_85694 | 12 | 85460525:85460676:85466684:85466876:85492132:85492326 | 85466684:85466876 | ENSG00000133640.14 | ENST00000525971.2,ENST00000393217.2 |
| exon_skip_85696 | 12 | 85492132:85492326:85492644:85492772:85497781:85497855 | 85492644:85492772 | ENSG00000133640.14 | ENST00000525971.2,ENST00000393217.2 |
| exon_skip_85697 | 12 | 85497781:85497855:85500299:85500393:85515474:85515654 | 85500299:85500393 | ENSG00000133640.14 | ENST00000525971.2,ENST00000393217.2 |
| exon_skip_85700 | 12 | 85547789:85547872:85554390:85554492:85623294:85623427 | 85554390:85554492 | ENSG00000133640.14 | ENST00000393217.2 |
| exon_skip_85703 | 12 | 85623294:85623427:85626473:85626534:85638566:85638687 | 85626473:85626534 | ENSG00000133640.14 | ENST00000393217.2,ENST00000528777.3 |
| 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 LRRIQ1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for LRRIQ1 |
| 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 LRRIQ1 |
| - 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_85690 | 85445955 | 85446029 | 85445997 | 85445997 | Frame_Shift_Del | A | - | p.K241fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_85690 | 85445955 | 85446029 | 85446006 | 85446006 | Frame_Shift_Del | A | - | p.K244fs |
| LUAD | TCGA-69-7761-01 | exon_skip_85693 | 85449325 | 85450962 | 85449409 | 85449409 | Frame_Shift_Del | T | - | p.L280fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_85693 | 85449325 | 85450962 | 85449460 | 85449460 | Frame_Shift_Del | T | - | p.F297fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_85693 | 85449325 | 85450962 | 85449506 | 85449506 | Frame_Shift_Del | A | - | p.E312fs |
| LUSC | TCGA-66-2793-01 | exon_skip_85693 | 85449325 | 85450962 | 85449549 | 85449549 | Frame_Shift_Del | A | - | p.A326fs |
| STAD | TCGA-CG-4442-01 | exon_skip_85693 | 85449325 | 85450962 | 85449618 | 85449618 | Frame_Shift_Del | A | - | p.R349fs |
| DLBC | TCGA-GS-A9TW-01 | exon_skip_85693 | 85449325 | 85450962 | 85449643 | 85449643 | Frame_Shift_Del | A | - | p.R357fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_85693 | 85449325 | 85450962 | 85449668 | 85449668 | Frame_Shift_Del | A | - | p.E366fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_85693 | 85449325 | 85450962 | 85449668 | 85449668 | Frame_Shift_Del | A | - | p.K368fs |
| STAD | TCGA-BR-8361-01 | exon_skip_85693 | 85449325 | 85450962 | 85449692 | 85449692 | Frame_Shift_Del | A | - | p.E374fs |
| UCEC | TCGA-D1-A0ZS-01 | exon_skip_85693 | 85449325 | 85450962 | 85450016 | 85450016 | Frame_Shift_Del | A | - | p.E482fs |
| COAD | TCGA-AA-3492-01 | exon_skip_85693 | 85449325 | 85450962 | 85450035 | 85450035 | Frame_Shift_Del | A | - | p.A488fs |
| COAD | TCGA-CK-5913-01 | exon_skip_85693 | 85449325 | 85450962 | 85450035 | 85450035 | Frame_Shift_Del | A | - | p.A488fs |
| STAD | TCGA-D7-A4YV-01 | exon_skip_85693 | 85449325 | 85450962 | 85450035 | 85450035 | Frame_Shift_Del | A | - | p.A488fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_85693 | 85449325 | 85450962 | 85450312 | 85450312 | Frame_Shift_Del | A | - | p.K582fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_85693 | 85449325 | 85450962 | 85450322 | 85450322 | Frame_Shift_Del | A | - | p.Q584fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_85693 | 85449325 | 85450962 | 85450835 | 85450835 | Frame_Shift_Del | T | - | p.I755fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_85696 | 85492645 | 85492772 | 85492748 | 85492748 | Frame_Shift_Del | A | - | p.Q1062fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_85693 | 85449325 | 85450962 | 85449394 | 85449395 | Frame_Shift_Ins | - | A | p.K275fs |
| LUAD | TCGA-75-7027-01 | exon_skip_85693 | 85449325 | 85450962 | 85449548 | 85449549 | Frame_Shift_Ins | - | A | p.A326fs |
| LUAD | TCGA-75-7027-01 | exon_skip_85693 | 85449325 | 85450962 | 85449548 | 85449549 | Frame_Shift_Ins | - | A | p.E326fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_85693 | 85449325 | 85450962 | 85449715 | 85449716 | Frame_Shift_Ins | - | A | p.K382fs |
| COAD | TCGA-CM-4743-01 | exon_skip_85693 | 85449325 | 85450962 | 85450034 | 85450035 | Frame_Shift_Ins | - | A | p.A488fs |
| COAD | TCGA-CM-6162-01 | exon_skip_85693 | 85449325 | 85450962 | 85450034 | 85450035 | Frame_Shift_Ins | - | A | p.A488fs |
| LIHC | TCGA-2Y-A9GU-01 | exon_skip_85693 | 85449325 | 85450962 | 85450034 | 85450035 | Frame_Shift_Ins | - | A | p.A488fs |
| STAD | TCGA-BR-8372-01 | exon_skip_85693 | 85449325 | 85450962 | 85450034 | 85450035 | Frame_Shift_Ins | - | A | p.A488fs |
| STAD | TCGA-BR-8372-01 | exon_skip_85693 | 85449325 | 85450962 | 85450035 | 85450036 | Frame_Shift_Ins | - | A | p.A488fs |
| STAD | TCGA-BR-8680-01 | exon_skip_85693 | 85449325 | 85450962 | 85450183 | 85450184 | Frame_Shift_Ins | - | A | p.E538fs |
| STAD | TCGA-BR-8680-01 | exon_skip_85693 | 85449325 | 85450962 | 85450184 | 85450185 | Frame_Shift_Ins | - | A | p.E538fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_85693 | 85449325 | 85450962 | 85450194 | 85450195 | Frame_Shift_Ins | - | A | p.T542fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_85693 | 85449325 | 85450962 | 85450434 | 85450435 | Frame_Shift_Ins | - | A | p.R622fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_85693 | 85449325 | 85450962 | 85450924 | 85450925 | Frame_Shift_Ins | - | A | p.E785fs |
| PRAD | TCGA-M7-A71Z-01 | exon_skip_85694 | 85466685 | 85466876 | 85466829 | 85466830 | Frame_Shift_Ins | - | A | p.K947fs |
| LUAD | TCGA-95-7567-01 | exon_skip_85690 | 85445955 | 85446029 | 85446027 | 85446027 | Nonsense_Mutation | G | T | p.E251* |
| OV | TCGA-09-2056-01 | exon_skip_85693 | 85449325 | 85450962 | 85449556 | 85449556 | Nonsense_Mutation | C | T | p.R329* |
| UCEC | TCGA-D1-A103-01 | exon_skip_85693 | 85449325 | 85450962 | 85449556 | 85449556 | Nonsense_Mutation | C | T | p.R329* |
| ACC | TCGA-OR-A5LT-01 | exon_skip_85693 | 85449325 | 85450962 | 85449577 | 85449577 | Nonsense_Mutation | C | T | p.R336* |
| ACC | TCGA-OR-A5LT-01 | exon_skip_85693 | 85449325 | 85450962 | 85449577 | 85449577 | Nonsense_Mutation | C | T | p.R336X |
| COAD | TCGA-AZ-4315-01 | exon_skip_85693 | 85449325 | 85450962 | 85449610 | 85449610 | Nonsense_Mutation | G | T | p.E347X |
| ESCA | TCGA-LN-A4A9-01 | exon_skip_85693 | 85449325 | 85450962 | 85449856 | 85449856 | Nonsense_Mutation | G | T | p.E429* |
| ESCA | TCGA-LN-A4A9-01 | exon_skip_85693 | 85449325 | 85450962 | 85449856 | 85449856 | Nonsense_Mutation | G | T | p.E429X |
| LUAD | TCGA-86-8669-01 | exon_skip_85693 | 85449325 | 85450962 | 85449856 | 85449856 | Nonsense_Mutation | G | T | p.E429* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_85693 | 85449325 | 85450962 | 85449946 | 85449946 | Nonsense_Mutation | G | T | p.E459* |
| LUAD | TCGA-50-5049-01 | exon_skip_85693 | 85449325 | 85450962 | 85449967 | 85449967 | Nonsense_Mutation | A | T | p.K466* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_85693 | 85449325 | 85450962 | 85450243 | 85450243 | Nonsense_Mutation | G | T | p.G558* |
| READ | TCGA-F5-6814-01 | exon_skip_85693 | 85449325 | 85450962 | 85450447 | 85450447 | Nonsense_Mutation | G | T | p.E626X |
| LUSC | TCGA-22-5471-01 | exon_skip_85693 | 85449325 | 85450962 | 85450481 | 85450481 | Nonsense_Mutation | C | A | p.S637* |
| BLCA | TCGA-YF-AA3L-01 | exon_skip_85693 | 85449325 | 85450962 | 85450711 | 85450711 | Nonsense_Mutation | A | T | p.K714* |
| SKCM | TCGA-FS-A1ZK-06 | exon_skip_85693 | 85449325 | 85450962 | 85450849 | 85450849 | Nonsense_Mutation | C | T | p.Q760* |
| SKCM | TCGA-FS-A1ZK-06 | exon_skip_85693 | 85449325 | 85450962 | 85450849 | 85450849 | Nonsense_Mutation | C | T | p.Q760X |
| UCS | TCGA-N9-A4Q7-01 | exon_skip_85693 | 85449325 | 85450962 | 85450933 | 85450933 | Nonsense_Mutation | C | T | p.R788* |
| READ | TCGA-AG-A002-01 | exon_skip_85696 | 85492645 | 85492772 | 85492678 | 85492678 | Nonsense_Mutation | G | T | p.E1039X |
| BLCA | TCGA-MV-A51V-01 | exon_skip_85696 | 85492645 | 85492772 | 85492706 | 85492706 | Nonsense_Mutation | C | G | p.S1048* |
| MESO | TCGA-UT-A97Y-01 | 85500300 | 85500393 | 85500305 | 85500305 | Nonsense_Mutation | A | T | p.K1097* | |
| SKCM | TCGA-EB-A5UL-06 | 85500300 | 85500393 | 85500321 | 85500321 | Nonsense_Mutation | G | A | p.W1102* | |
| SKCM | TCGA-EB-A5UL-06 | 85500300 | 85500393 | 85500321 | 85500321 | Nonsense_Mutation | G | A | p.W1102X | |
| HNSC | TCGA-CV-6961-01 | 85500300 | 85500393 | 85500377 | 85500377 | Nonsense_Mutation | C | T | p.Q1121* | |
| SKCM | TCGA-YD-A89C-06 | exon_skip_85703 | 85626474 | 85626534 | 85626526 | 85626526 | Nonsense_Mutation | C | T | p.Q1670* |
| GBM | TCGA-76-6193-01 | exon_skip_85694 | 85466685 | 85466876 | 85466877 | 85466877 | Splice_Site | G | T | p.C963_splice |
| LIHC | TCGA-NI-A4U2-01 | exon_skip_85700 | 85554391 | 85554492 | 85554390 | 85554390 | Splice_Site | G | C | . |
| - 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 |
| HEC108_ENDOMETRIUM | 85449325 | 85450962 | 85449653 | 85449653 | Frame_Shift_Del | A | - | p.E361fs |
| NCIH630_LARGE_INTESTINE | 85449325 | 85450962 | 85449716 | 85449716 | Frame_Shift_Del | A | - | p.E382fs |
| GP5D_LARGE_INTESTINE | 85449325 | 85450962 | 85450035 | 85450035 | Frame_Shift_Del | A | - | p.A488fs |
| SKUT1_SOFT_TISSUE | 85449325 | 85450962 | 85450035 | 85450035 | Frame_Shift_Del | A | - | p.A488fs |
| EN_ENDOMETRIUM | 85449325 | 85450962 | 85450184 | 85450184 | Frame_Shift_Del | A | - | p.E538fs |
| 2313287_STOMACH | 85449325 | 85450962 | 85450312 | 85450312 | Frame_Shift_Del | A | - | p.K582fs |
| HEC151_ENDOMETRIUM | 85449325 | 85450962 | 85450906 | 85450906 | Frame_Shift_Del | C | - | p.P779fs |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85466685 | 85466876 | 85466726 | 85466726 | Frame_Shift_Del | G | - | p.G913fs |
| EN_ENDOMETRIUM | 85449325 | 85450962 | 85449840 | 85449841 | Frame_Shift_Ins | - | A | p.K424fs |
| RKO_LARGE_INTESTINE | 85449325 | 85450962 | 85450024 | 85450025 | Frame_Shift_Ins | - | T | p.E485fs |
| SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85449325 | 85450962 | 85450034 | 85450035 | Frame_Shift_Ins | - | A | p.AK488fs |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85449325 | 85450962 | 85450034 | 85450035 | Frame_Shift_Ins | - | A | p.AK488fs |
| 2313287_STOMACH | 85449325 | 85450962 | 85450708 | 85450709 | Frame_Shift_Ins | - | A | p.E713fs |
| AN3CA_ENDOMETRIUM | 85466685 | 85466876 | 85466827 | 85466828 | Frame_Shift_Ins | - | AA | p.T947fs |
| HEC1_ENDOMETRIUM | 85445955 | 85446029 | 85445978 | 85445978 | Missense_Mutation | T | G | p.D234E |
| GRANTA519_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85445955 | 85446029 | 85446007 | 85446007 | Missense_Mutation | A | T | p.K244I |
| TE9_OESOPHAGUS | 85445955 | 85446029 | 85446009 | 85446009 | Missense_Mutation | G | C | p.E245Q |
| LOXIMVI_SKIN | 85449325 | 85450962 | 85449365 | 85449365 | Missense_Mutation | G | A | p.R265K |
| HEC251_ENDOMETRIUM | 85449325 | 85450962 | 85449404 | 85449404 | Missense_Mutation | C | A | p.S278Y |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85449325 | 85450962 | 85449464 | 85449464 | Missense_Mutation | T | C | p.V298A |
| PANC0403_PANCREAS | 85449325 | 85450962 | 85449464 | 85449464 | Missense_Mutation | T | C | p.V298A |
| COV504_OVARY | 85449325 | 85450962 | 85449513 | 85449513 | Missense_Mutation | G | C | p.K314N |
| SF295_CENTRAL_NERVOUS_SYSTEM | 85449325 | 85450962 | 85449513 | 85449513 | Missense_Mutation | G | C | p.K314N |
| TE14_OESOPHAGUS | 85449325 | 85450962 | 85449532 | 85449532 | Missense_Mutation | T | C | p.W321R |
| HEC1_ENDOMETRIUM | 85449325 | 85450962 | 85449563 | 85449563 | Missense_Mutation | A | G | p.K331R |
| HCC1143_MATCHED_NORMAL_TISSUE | 85449325 | 85450962 | 85449634 | 85449634 | Missense_Mutation | G | A | p.E355K |
| NCIH1793_LUNG | 85449325 | 85450962 | 85449674 | 85449674 | Missense_Mutation | A | G | p.K368R |
| JHOC5_OVARY | 85449325 | 85450962 | 85449692 | 85449692 | Missense_Mutation | A | G | p.E374G |
| NH6_AUTONOMIC_GANGLIA | 85449325 | 85450962 | 85449736 | 85449736 | Missense_Mutation | G | T | p.D389Y |
| GP2D_LARGE_INTESTINE | 85449325 | 85450962 | 85449787 | 85449787 | Missense_Mutation | A | G | p.N406D |
| LNCAPCLONEFGC_PROSTATE | 85449325 | 85450962 | 85449824 | 85449824 | Missense_Mutation | A | T | p.D418V |
| T84_LARGE_INTESTINE | 85449325 | 85450962 | 85449836 | 85449836 | Missense_Mutation | T | C | p.I422T |
| NCIH522_LUNG | 85449325 | 85450962 | 85449853 | 85449853 | Missense_Mutation | G | T | p.D428Y |
| HEC251_ENDOMETRIUM | 85449325 | 85450962 | 85449857 | 85449857 | Missense_Mutation | A | G | p.E429G |
| GP2D_LARGE_INTESTINE | 85449325 | 85450962 | 85449866 | 85449866 | Missense_Mutation | A | G | p.K432R |
| GP5D_LARGE_INTESTINE | 85449325 | 85450962 | 85449866 | 85449866 | Missense_Mutation | A | G | p.K432R |
| MEWO_SKIN | 85449325 | 85450962 | 85449944 | 85449944 | Missense_Mutation | A | C | p.K458T |
| GP5D_LARGE_INTESTINE | 85449325 | 85450962 | 85449978 | 85449978 | Missense_Mutation | A | G | p.I469M |
| NCIH720_LUNG | 85449325 | 85450962 | 85449998 | 85449998 | Missense_Mutation | C | A | p.A476E |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85449325 | 85450962 | 85450043 | 85450043 | Missense_Mutation | G | A | p.R491Q |
| HCC366_LUNG | 85449325 | 85450962 | 85450054 | 85450054 | Missense_Mutation | G | A | p.E495K |
| QGP1_PANCREAS | 85449325 | 85450962 | 85450115 | 85450115 | Missense_Mutation | C | A | p.S515Y |
| MM415_SKIN | 85449325 | 85450962 | 85450117 | 85450117 | Missense_Mutation | G | A | p.D516N |
| SKMEL2_SKIN | 85449325 | 85450962 | 85450127 | 85450127 | Missense_Mutation | G | A | p.G519E |
| MEWO_SKIN | 85449325 | 85450962 | 85450138 | 85450138 | Missense_Mutation | G | A | p.E523K |
| SKNMC_BONE | 85449325 | 85450962 | 85450318 | 85450318 | Missense_Mutation | A | G | p.I583V |
| MCIXC_AUTONOMIC_GANGLIA | 85449325 | 85450962 | 85450318 | 85450318 | Missense_Mutation | A | G | p.I583V |
| SC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85449325 | 85450962 | 85450358 | 85450358 | Missense_Mutation | G | C | p.G596A |
| SCI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85449325 | 85450962 | 85450358 | 85450358 | Missense_Mutation | G | C | p.G596A |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85449325 | 85450962 | 85450363 | 85450363 | Missense_Mutation | T | A | p.L598I |
| LN215_CENTRAL_NERVOUS_SYSTEM | 85449325 | 85450962 | 85450364 | 85450364 | Missense_Mutation | T | C | p.L598S |
| SJSA1_BONE | 85449325 | 85450962 | 85450529 | 85450529 | Missense_Mutation | G | C | p.S653T |
| HCT116_LARGE_INTESTINE | 85449325 | 85450962 | 85450639 | 85450639 | Missense_Mutation | T | C | p.Y690H |
| KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85449325 | 85450962 | 85450771 | 85450771 | Missense_Mutation | C | T | p.L734F |
| TEN_ENDOMETRIUM | 85449325 | 85450962 | 85450816 | 85450816 | Missense_Mutation | T | C | p.F749L |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85449325 | 85450962 | 85450869 | 85450869 | Missense_Mutation | A | T | p.R766S |
| KYSE410_OESOPHAGUS | 85449325 | 85450962 | 85450916 | 85450916 | Missense_Mutation | A | T | p.D782V |
| HCT116_LARGE_INTESTINE | 85449325 | 85450962 | 85450930 | 85450930 | Missense_Mutation | C | T | p.L787F |
| SKLMS1_SOFT_TISSUE | 85466685 | 85466876 | 85466695 | 85466695 | Missense_Mutation | C | G | p.F902L |
| NCIH1299_LUNG | 85466685 | 85466876 | 85466724 | 85466724 | Missense_Mutation | C | A | p.A912E |
| SNU1040_LARGE_INTESTINE | 85466685 | 85466876 | 85466763 | 85466763 | Missense_Mutation | T | C | p.L925S |
| DU145_PROSTATE | 85466685 | 85466876 | 85466771 | 85466771 | Missense_Mutation | G | A | p.A928T |
| GP5D_LARGE_INTESTINE | 85466685 | 85466876 | 85466867 | 85466867 | Missense_Mutation | T | C | p.Y960H |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85492645 | 85492772 | 85492697 | 85492697 | Missense_Mutation | A | G | p.N1045S |
| EW24_BONE | 85492645 | 85492772 | 85492716 | 85492716 | Missense_Mutation | A | C | p.E1051D |
| NCIH358_LUNG | 85492645 | 85492772 | 85492756 | 85492756 | Missense_Mutation | A | G | p.T1065A |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85500300 | 85500393 | 85500338 | 85500338 | Missense_Mutation | T | A | p.S1108T |
| HEC251_ENDOMETRIUM | 85500300 | 85500393 | 85500374 | 85500374 | Missense_Mutation | C | A | p.L1120I |
| HEC108_ENDOMETRIUM | 85531628 | 85531747 | 85531667 | 85531667 | Missense_Mutation | A | G | p.T1417A |
| GMEL_SKIN | 85531628 | 85531747 | 85531710 | 85531710 | Missense_Mutation | A | G | p.Y1431C |
| HT115_LARGE_INTESTINE | 85554391 | 85554492 | 85554393 | 85554393 | Missense_Mutation | T | C | p.S1575P |
| SKUT1_SOFT_TISSUE | 85554391 | 85554492 | 85554403 | 85554403 | Missense_Mutation | G | A | p.R1578H |
| SNU1040_LARGE_INTESTINE | 85554391 | 85554492 | 85554435 | 85554435 | Missense_Mutation | G | A | p.V1589M |
| NCIH513_PLEURA | 85554391 | 85554492 | 85554462 | 85554462 | Missense_Mutation | G | C | p.V1598L |
| NCIH2172_LUNG | 85626474 | 85626534 | 85626506 | 85626506 | Missense_Mutation | T | C | p.V1663A |
| JHUEM7_ENDOMETRIUM | 85449325 | 85450962 | 85449571 | 85449571 | Nonsense_Mutation | G | T | p.E334* |
| NCIH2110_LUNG | 85449325 | 85450962 | 85449625 | 85449625 | Nonsense_Mutation | C | T | p.Q352* |
| JHU011_UPPER_AERODIGESTIVE_TRACT | 85449325 | 85450962 | 85449655 | 85449655 | Nonsense_Mutation | A | T | p.K362* |
| NCIH820_LUNG | 85449325 | 85450962 | 85449730 | 85449730 | Nonsense_Mutation | A | T | p.R387* |
| HEC251_ENDOMETRIUM | 85449325 | 85450962 | 85450471 | 85450471 | Nonsense_Mutation | G | T | p.E634* |
| HEC251_ENDOMETRIUM | 85449325 | 85450962 | 85450492 | 85450492 | Nonsense_Mutation | G | T | p.E641* |
| CHLA06ATRT_SOFT_TISSUE | 85466685 | 85466876 | 85466734 | 85466734 | Nonsense_Mutation | C | A | p.C915* |
| CORL47_LUNG | 85492645 | 85492772 | 85492678 | 85492678 | Nonsense_Mutation | G | T | p.E1039* |
| HT115_LARGE_INTESTINE | 85531628 | 85531747 | 85531706 | 85531706 | Nonsense_Mutation | G | T | p.E1430* |
| HCC2998_LARGE_INTESTINE | 85531628 | 85531747 | 85531715 | 85531715 | Nonsense_Mutation | G | T | p.E1433* |
| COLO680N_OESOPHAGUS | 85531628 | 85531747 | 85531725 | 85531725 | Nonsense_Mutation | T | A | p.L1436* |
| JHUEM7_ENDOMETRIUM | 85554391 | 85554492 | 85554485 | 85554485 | Nonsense_Mutation | C | A | p.Y1605* |
| CORL321_PLEURA | 85626474 | 85626534 | 85626517 | 85626517 | Nonsense_Mutation | G | T | p.G1667* |
| HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85445955 | 85446029 | 85446028 | 85446028 | Splice_Site | A | C | p.E251A |
| HEC108_ENDOMETRIUM | 85449325 | 85450962 | 85450962 | 85450962 | Splice_Site | G | T | p.Q797H |
| CW2_LARGE_INTESTINE | 85531628 | 85531747 | 85531629 | 85531629 | Splice_Site | C | T | p.A1404V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRRIQ1 |
| 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 LRRIQ1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRRIQ1 |
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RelatedDrugs for LRRIQ1 |
| 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 LRRIQ1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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