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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 LRIG1 |
 Gene summary |
| Gene information | Gene symbol | LRIG1 | Gene ID | 26018 |
| Gene name | leucine rich repeats and immunoglobulin like domains 1 | |
| Synonyms | LIG-1|LIG1 | |
| Cytomap | 3p14.1 | |
| Type of gene | protein-coding | |
| Description | leucine-rich repeats and immunoglobulin-like domains protein 1leucine-rich repeat protein LRIG1ortholog of mouse integral membrane glycoprotein LIG-1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96JA1 | |
| Context | PubMed: LRIG1 [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 LRIG1 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 LRIG1 |
| 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 LRIG1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_385616 | 3 | 66433405:66433825:66434414:66434696:66436404:66436725 | 66434414:66434696 | ENSG00000144749.9 | ENST00000273261.3,ENST00000496559.2,ENST00000495037.1 |
| exon_skip_385618 | 3 | 66433405:66433825:66434555:66434696:66436404:66436725 | 66434555:66434696 | ENSG00000144749.9 | ENST00000383703.3 |
| exon_skip_385622 | 3 | 66436404:66436725:66444463:66444627:66448535:66448607 | 66444463:66444627 | ENSG00000144749.9 | ENST00000383703.3,ENST00000273261.3,ENST00000496559.2,ENST00000495037.1 |
| exon_skip_385623 | 3 | 66448535:66448607:66449393:66449465:66455621:66455702 | 66449393:66449465 | ENSG00000144749.9 | ENST00000273261.3,ENST00000496559.2 |
| exon_skip_385625 | 3 | 66449393:66449465:66452032:66452104:66455621:66455702 | 66452032:66452104 | ENSG00000144749.9 | ENST00000383703.3 |
| exon_skip_385628 | 3 | 66449393:66449465:66455621:66455702:66457771:66457915 | 66455621:66455702 | ENSG00000144749.9 | ENST00000273261.3 |
| exon_skip_385632 | 3 | 66457771:66457915:66460552:66460696:66463294:66463355 | 66460552:66460696 | ENSG00000144749.9 | ENST00000383703.3,ENST00000273261.3 |
| exon_skip_385633 | 3 | 66463349:66463438:66465343:66465487:66467552:66467690 | 66465343:66465487 | ENSG00000144749.9 | ENST00000383703.3,ENST00000273261.3,ENST00000497721.1,ENST00000498287.1 |
| exon_skip_385637 | 3 | 66465381:66465487:66467552:66467690:66501982:66502057 | 66467552:66467690 | ENSG00000144749.9 | ENST00000383703.3,ENST00000273261.3,ENST00000475366.1,ENST00000498287.1 |
| exon_skip_385640 | 3 | 66467552:66467690:66501982:66502057:66512861:66512933 | 66501982:66502057 | ENSG00000144749.9 | ENST00000383703.3,ENST00000273261.3,ENST00000475366.1,ENST00000498287.1 |
| exon_skip_385645 | 3 | 66501982:66502057:66512861:66512933:66550613:66551356 | 66512861:66512933 | ENSG00000144749.9 | ENST00000383703.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LRIG1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_385616 | 3 | 66433405:66433825:66434414:66434696:66436404:66436725 | 66434414:66434696 | ENSG00000144749.9 | ENST00000273261.3,ENST00000496559.2,ENST00000495037.1 |
| exon_skip_385618 | 3 | 66433405:66433825:66434555:66434696:66436404:66436725 | 66434555:66434696 | ENSG00000144749.9 | ENST00000383703.3 |
| exon_skip_385622 | 3 | 66436404:66436725:66444463:66444627:66448535:66448607 | 66444463:66444627 | ENSG00000144749.9 | ENST00000273261.3,ENST00000383703.3,ENST00000496559.2,ENST00000495037.1 |
| exon_skip_385623 | 3 | 66448535:66448607:66449393:66449465:66455621:66455702 | 66449393:66449465 | ENSG00000144749.9 | ENST00000273261.3,ENST00000496559.2 |
| exon_skip_385625 | 3 | 66449393:66449465:66452032:66452104:66455621:66455702 | 66452032:66452104 | ENSG00000144749.9 | ENST00000383703.3 |
| exon_skip_385628 | 3 | 66449393:66449465:66455621:66455702:66457771:66457915 | 66455621:66455702 | ENSG00000144749.9 | ENST00000273261.3 |
| exon_skip_385632 | 3 | 66457771:66457915:66460552:66460696:66463294:66463355 | 66460552:66460696 | ENSG00000144749.9 | ENST00000273261.3,ENST00000383703.3 |
| exon_skip_385633 | 3 | 66463349:66463438:66465343:66465487:66467552:66467690 | 66465343:66465487 | ENSG00000144749.9 | ENST00000273261.3,ENST00000383703.3,ENST00000497721.1,ENST00000498287.1 |
| exon_skip_385637 | 3 | 66465381:66465487:66467552:66467690:66501982:66502057 | 66467552:66467690 | ENSG00000144749.9 | ENST00000273261.3,ENST00000383703.3,ENST00000498287.1,ENST00000475366.1 |
| exon_skip_385640 | 3 | 66467552:66467690:66501982:66502057:66512861:66512933 | 66501982:66502057 | ENSG00000144749.9 | ENST00000273261.3,ENST00000383703.3,ENST00000498287.1,ENST00000475366.1 |
| exon_skip_385645 | 3 | 66501982:66502057:66512861:66512933:66550613:66551356 | 66512861:66512933 | ENSG00000144749.9 | ENST00000383703.3 |
| 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 LRIG1 |
| 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 LRIG1 |
| 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 LRIG1 |
| - 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_385616 | 66434415 | 66434696 | 66434496 | 66434496 | Frame_Shift_Del | T | - | p.I664fs |
| STAD | TCGA-CG-4305-01 | exon_skip_385616 | 66434415 | 66434696 | 66434513 | 66434513 | Frame_Shift_Del | A | - | p.F658fs |
| COAD | TCGA-AD-6889-01 | exon_skip_385622 | 66444464 | 66444627 | 66444486 | 66444487 | Frame_Shift_Del | CA | - | p.482_483del |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_385622 | 66444464 | 66444627 | 66444574 | 66444574 | Frame_Shift_Del | G | - | p.P477fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_385633 | 66465344 | 66465487 | 66465459 | 66465459 | Frame_Shift_Del | G | - | p.L178fs |
| LIHC | TCGA-BC-A10T-01 | exon_skip_385622 | 66444464 | 66444627 | 66444578 | 66444579 | Frame_Shift_Ins | - | C | p.LP475fs |
| LUAD | TCGA-75-5146-01 | exon_skip_385633 | 66465344 | 66465487 | 66465421 | 66465422 | Frame_Shift_Ins | - | A | p.L190fs |
| LUAD | TCGA-75-5146-01 | exon_skip_385633 | 66465344 | 66465487 | 66465421 | 66465422 | Frame_Shift_Ins | - | A | p.P190fs |
| LUAD | TCGA-05-4405-01 | exon_skip_385640 | 66501983 | 66502057 | 66502041 | 66502041 | Nonsense_Mutation | C | A | p.E103* |
| READ | TCGA-AG-A002-01 | exon_skip_385645 | 66512862 | 66512933 | 66512866 | 66512866 | Nonsense_Mutation | C | A | p.E96X |
| BLCA | TCGA-BT-A3PJ-01 | exon_skip_385623 | 66449394 | 66449465 | 66449393 | 66449393 | Splice_Site | C | T | p.L411_splice |
| - 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 |
| MZ7MEL_SKIN | 66434415 | 66434696 | 66434498 | 66434498 | Missense_Mutation | T | C | p.K663R |
| HEC1A_ENDOMETRIUM | 66434415 | 66434696 | 66434533 | 66434533 | Missense_Mutation | C | T | p.M651I |
| SNU1040_LARGE_INTESTINE | 66434415 | 66434696 | 66434546 | 66434546 | Missense_Mutation | C | T | p.R647H |
| SNU81_LARGE_INTESTINE | 66444464 | 66444627 | 66444467 | 66444467 | Missense_Mutation | A | G | p.C489R |
| HCC2998_LARGE_INTESTINE | 66449394 | 66449465 | 66449409 | 66449409 | Missense_Mutation | T | G | p.E406A |
| HT55_LARGE_INTESTINE | 66460553 | 66460696 | 66460559 | 66460559 | Missense_Mutation | T | A | p.H310L |
| EN_ENDOMETRIUM | 66460553 | 66460696 | 66460577 | 66460577 | Missense_Mutation | C | T | p.S304N |
| SNU503_LARGE_INTESTINE | 66460553 | 66460696 | 66460598 | 66460598 | Missense_Mutation | C | T | p.R297H |
| SW1573_LUNG | 66460553 | 66460696 | 66460599 | 66460599 | Missense_Mutation | G | A | p.R297C |
| VMRCRCZ_KIDNEY | 66460553 | 66460696 | 66460602 | 66460602 | Missense_Mutation | C | G | p.A296P |
| LS411N_LARGE_INTESTINE | 66460553 | 66460696 | 66460661 | 66460661 | Missense_Mutation | C | T | p.S276N |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66465344 | 66465487 | 66465411 | 66465411 | Missense_Mutation | G | A | p.R194C |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66465344 | 66465487 | 66465411 | 66465411 | Missense_Mutation | G | A | p.R194C |
| GP2D_LARGE_INTESTINE | 66465344 | 66465487 | 66465432 | 66465432 | Missense_Mutation | A | G | p.S187P |
| GP5D_LARGE_INTESTINE | 66465344 | 66465487 | 66465432 | 66465432 | Missense_Mutation | A | G | p.S187P |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66467553 | 66467690 | 66467668 | 66467668 | Missense_Mutation | C | T | p.V130M |
| CW2_LARGE_INTESTINE | 66467553 | 66467690 | 66467673 | 66467673 | Missense_Mutation | C | T | p.R128H |
| KMRC3_KIDNEY | 66501983 | 66502057 | 66502014 | 66502014 | Missense_Mutation | C | T | p.A112T |
| OVSAHO_OVARY | 66501983 | 66502057 | 66502014 | 66502014 | Missense_Mutation | C | T | p.A112T |
| OVCA420_OVARY | 66512862 | 66512933 | 66512877 | 66512877 | Missense_Mutation | G | T | p.P92Q |
| LS180_LARGE_INTESTINE | 66512862 | 66512933 | 66512914 | 66512914 | Missense_Mutation | G | A | p.L80F |
| LN215_CENTRAL_NERVOUS_SYSTEM | 66501983 | 66502057 | 66501983 | 66501986 | Splice_Site | AGAA | - | p.FL121fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRIG1 |
| 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 |
| exon_skip_385618 | 3 | 66433405:66433825:66434555:66434696:66436404:66436725 | 66434555:66434696 | ENST00000383703.3 | LGG | rs2306272 | chr3:66434643 | T/C | 9.83e-04 |
| exon_skip_385616 | 3 | 66433405:66433825:66434414:66434696:66436404:66436725 | 66434414:66434696 | ENST00000273261.3,ENST00000496559.2,ENST00000495037.1 | LGG | rs2306272 | chr3:66434643 | T/C | 9.83e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRIG1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRIG1 |
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RelatedDrugs for LRIG1 |
| 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 LRIG1 |
| 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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