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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for LRRC49 |
Gene summary |
Gene information | Gene symbol | LRRC49 | Gene ID | 54839 |
Gene name | leucine rich repeat containing 49 | |
Synonyms | PGs4 | |
Cytomap | 15q23 | |
Type of gene | protein-coding | |
Description | leucine-rich repeat-containing protein 49tubulin polyglutamylase complex subunit 4 | |
Modification date | 20180529 | |
UniProtAcc | Q8IUZ0 | |
Context | PubMed: LRRC49 [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 LRRC49 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 LRRC49 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for LRRC49 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_123269 | 15 | 71185922:71185979:71186910:71187008:71188187:71188275 | 71186910:71187008 | ENSG00000137821.7 | ENST00000559201.1 |
exon_skip_123270 | 15 | 71185922:71185979:71186910:71187094:71188187:71188275 | 71186910:71187094 | ENSG00000137821.7 | ENST00000558032.1,ENST00000558204.1 |
exon_skip_123271 | 15 | 71185922:71185979:71188187:71188275:71193260:71193290 | 71188187:71188275 | ENSG00000137821.7 | ENST00000544974.2,ENST00000557977.1,ENST00000558546.1,ENST00000560980.1,ENST00000260382.5 |
exon_skip_123272 | 15 | 71185922:71185979:71188187:71188275:71196890:71196935 | 71188187:71188275 | ENSG00000137821.7 | ENST00000560107.2 |
exon_skip_123274 | 15 | 71188187:71188275:71190705:71190794:71193260:71193290 | 71190705:71190794 | ENSG00000137821.7 | ENST00000558271.1,ENST00000558032.1,ENST00000561081.1,ENST00000443425.2 |
exon_skip_123276 | 15 | 71188187:71188275:71192795:71192921:71193260:71193290 | 71192795:71192921 | ENSG00000137821.7 | ENST00000560755.1 |
exon_skip_123277 | 15 | 71188187:71188275:71193260:71193363:71196890:71196935 | 71193260:71193363 | ENSG00000137821.7 | ENST00000559201.1,ENST00000560369.1,ENST00000544974.2,ENST00000557977.1,ENST00000558546.1,ENST00000560980.1,ENST00000260382.5 |
exon_skip_123279 | 15 | 71196890:71197094:71200942:71201015:71203870:71203900 | 71200942:71201015 | ENSG00000137821.7 | ENST00000560691.1 |
exon_skip_123280 | 15 | 71196890:71197094:71203870:71203937:71211388:71211532 | 71203870:71203937 | ENSG00000137821.7 | ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000558137.1,ENST00000560107.2,ENST00000559670.1,ENST00000561081.1,ENST00000260382.5,ENST00000443425.2 |
exon_skip_123281 | 15 | 71203870:71203937:71211388:71211532:71229099:71229161 | 71211388:71211532 | ENSG00000137821.7 | ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000558137.1,ENST00000560107.2,ENST00000561285.1,ENST00000561081.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1 |
exon_skip_123282 | 15 | 71211388:71211532:71229099:71229161:71256123:71256222 | 71229099:71229161 | ENSG00000137821.7 | ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000558137.1,ENST00000560107.2,ENST00000561285.1,ENST00000561081.1,ENST00000559469.1,ENST00000560980.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1 |
exon_skip_123283 | 15 | 71228866:71229161:71256123:71256271:71272439:71272523 | 71256123:71256271 | ENSG00000137821.7 | ENST00000559806.1,ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000558808.1,ENST00000558456.1,ENST00000560107.2,ENST00000561081.1,ENST00000560980.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1 |
exon_skip_123285 | 15 | 71256123:71256271:71272439:71272523:71276432:71276544 | 71272439:71272523 | ENSG00000137821.7 | ENST00000559806.1,ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000558808.1,ENST00000558456.1,ENST00000560107.2,ENST00000561081.1,ENST00000560980.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1 |
exon_skip_123288 | 15 | 71256123:71256271:71276432:71276596:71300717:71300777 | 71276432:71276596 | ENSG00000137821.7 | ENST00000559685.1,ENST00000559069.1 |
exon_skip_123289 | 15 | 71272439:71272523:71276432:71276596:71300717:71300777 | 71276432:71276596 | ENSG00000137821.7 | ENST00000559806.1,ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000560158.2,ENST00000559422.1,ENST00000560107.2,ENST00000561081.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1 |
exon_skip_123290 | 15 | 71300717:71300955:71301916:71301983:71302145:71302317 | 71301916:71301983 | ENSG00000137821.7 | ENST00000559422.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LRRC49 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_123266 | 15 | 71145716:71145808:71165246:71165562:71196890:71197039 | 71165246:71165562 | ENSG00000137821.7 | ENST00000558799.1 |
exon_skip_123269 | 15 | 71185922:71185979:71186910:71187008:71188187:71188275 | 71186910:71187008 | ENSG00000137821.7 | ENST00000559201.1 |
exon_skip_123270 | 15 | 71185922:71185979:71186910:71187094:71188187:71188275 | 71186910:71187094 | ENSG00000137821.7 | ENST00000558032.1,ENST00000558204.1 |
exon_skip_123271 | 15 | 71185922:71185979:71188187:71188275:71193260:71193290 | 71188187:71188275 | ENSG00000137821.7 | ENST00000544974.2,ENST00000558546.1,ENST00000260382.5,ENST00000560980.1,ENST00000557977.1 |
exon_skip_123272 | 15 | 71185922:71185979:71188187:71188275:71196890:71196935 | 71188187:71188275 | ENSG00000137821.7 | ENST00000560107.2 |
exon_skip_123274 | 15 | 71188187:71188275:71190705:71190794:71193260:71193290 | 71190705:71190794 | ENSG00000137821.7 | ENST00000561081.1,ENST00000443425.2,ENST00000558032.1,ENST00000558271.1 |
exon_skip_123277 | 15 | 71188187:71188275:71193260:71193363:71196890:71196935 | 71193260:71193363 | ENSG00000137821.7 | ENST00000544974.2,ENST00000558546.1,ENST00000559201.1,ENST00000560369.1,ENST00000260382.5,ENST00000560980.1,ENST00000557977.1 |
exon_skip_123279 | 15 | 71196890:71197094:71200942:71201015:71203870:71203900 | 71200942:71201015 | ENSG00000137821.7 | ENST00000560691.1 |
exon_skip_123280 | 15 | 71196890:71197094:71203870:71203937:71211388:71211532 | 71203870:71203937 | ENSG00000137821.7 | ENST00000544974.2,ENST00000561081.1,ENST00000560107.2,ENST00000560369.1,ENST00000260382.5,ENST00000559670.1,ENST00000443425.2,ENST00000436542.2,ENST00000558137.1 |
exon_skip_123281 | 15 | 71203870:71203937:71211388:71211532:71229099:71229161 | 71211388:71211532 | ENSG00000137821.7 | ENST00000544974.2,ENST00000561081.1,ENST00000560107.2,ENST00000560369.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1,ENST00000436542.2,ENST00000558137.1,ENST00000561285.1 |
exon_skip_123282 | 15 | 71211388:71211532:71229099:71229161:71256123:71256222 | 71229099:71229161 | ENSG00000137821.7 | ENST00000544974.2,ENST00000561081.1,ENST00000560107.2,ENST00000560369.1,ENST00000260382.5,ENST00000443425.2,ENST00000560980.1,ENST00000560691.1,ENST00000436542.2,ENST00000558137.1,ENST00000561285.1,ENST00000559469.1 |
exon_skip_123283 | 15 | 71228866:71229161:71256123:71256271:71272439:71272523 | 71256123:71256271 | ENSG00000137821.7 | ENST00000544974.2,ENST00000561081.1,ENST00000560107.2,ENST00000560369.1,ENST00000260382.5,ENST00000443425.2,ENST00000560980.1,ENST00000560691.1,ENST00000436542.2,ENST00000558456.1,ENST00000558808.1,ENST00000559806.1 |
exon_skip_123285 | 15 | 71256123:71256271:71272439:71272523:71276432:71276544 | 71272439:71272523 | ENSG00000137821.7 | ENST00000544974.2,ENST00000561081.1,ENST00000560107.2,ENST00000560369.1,ENST00000260382.5,ENST00000443425.2,ENST00000560980.1,ENST00000560691.1,ENST00000436542.2,ENST00000558456.1,ENST00000558808.1,ENST00000559806.1 |
exon_skip_123288 | 15 | 71256123:71256271:71276432:71276596:71300717:71300777 | 71276432:71276596 | ENSG00000137821.7 | ENST00000559069.1,ENST00000559685.1 |
exon_skip_123289 | 15 | 71272439:71272523:71276432:71276596:71300717:71300777 | 71276432:71276596 | ENSG00000137821.7 | ENST00000544974.2,ENST00000561081.1,ENST00000560107.2,ENST00000560369.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1,ENST00000436542.2,ENST00000560158.2,ENST00000559806.1,ENST00000559422.1 |
exon_skip_123290 | 15 | 71300717:71300955:71301916:71301983:71302145:71302317 | 71301916:71301983 | ENSG00000137821.7 | ENST00000559422.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for LRRC49 |
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 |
ENST00000260382 | 71188187 | 71188275 | Frame-shift |
ENST00000260382 | 71193260 | 71193363 | Frame-shift |
ENST00000260382 | 71203870 | 71203937 | Frame-shift |
ENST00000260382 | 71229099 | 71229161 | Frame-shift |
ENST00000260382 | 71256123 | 71256271 | Frame-shift |
ENST00000260382 | 71276432 | 71276596 | Frame-shift |
ENST00000260382 | 71211388 | 71211532 | In-frame |
ENST00000260382 | 71272439 | 71272523 | 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 |
ENST00000260382 | 71188187 | 71188275 | Frame-shift |
ENST00000260382 | 71193260 | 71193363 | Frame-shift |
ENST00000260382 | 71203870 | 71203937 | Frame-shift |
ENST00000260382 | 71229099 | 71229161 | Frame-shift |
ENST00000260382 | 71256123 | 71256271 | Frame-shift |
ENST00000260382 | 71276432 | 71276596 | Frame-shift |
ENST00000260382 | 71211388 | 71211532 | In-frame |
ENST00000260382 | 71272439 | 71272523 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LRRC49 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000260382 | 2801 | 686 | 71211388 | 71211532 | 828 | 971 | 189 | 237 |
ENST00000260382 | 2801 | 686 | 71272439 | 71272523 | 1182 | 1265 | 307 | 335 |
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 |
ENST00000260382 | 2801 | 686 | 71211388 | 71211532 | 828 | 971 | 189 | 237 |
ENST00000260382 | 2801 | 686 | 71272439 | 71272523 | 1182 | 1265 | 307 | 335 |
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 |
Q8IUZ0 | 189 | 237 | 1 | 686 | Chain | ID=PRO_0000233034;Note=Leucine-rich repeat-containing protein 49 |
Q8IUZ0 | 189 | 237 | 179 | 200 | Repeat | Note=LRR 4 |
Q8IUZ0 | 189 | 237 | 201 | 222 | Repeat | Note=LRR 5 |
Q8IUZ0 | 189 | 237 | 223 | 244 | Repeat | Note=LRR 6 |
Q8IUZ0 | 307 | 335 | 1 | 686 | Chain | ID=PRO_0000233034;Note=Leucine-rich repeat-containing protein 49 |
Q8IUZ0 | 307 | 335 | 303 | 341 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8IUZ0 | 307 | 335 | 279 | 317 | Domain | Note=LRRCT |
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 |
Q8IUZ0 | 189 | 237 | 1 | 686 | Chain | ID=PRO_0000233034;Note=Leucine-rich repeat-containing protein 49 |
Q8IUZ0 | 189 | 237 | 179 | 200 | Repeat | Note=LRR 4 |
Q8IUZ0 | 189 | 237 | 201 | 222 | Repeat | Note=LRR 5 |
Q8IUZ0 | 189 | 237 | 223 | 244 | Repeat | Note=LRR 6 |
Q8IUZ0 | 307 | 335 | 1 | 686 | Chain | ID=PRO_0000233034;Note=Leucine-rich repeat-containing protein 49 |
Q8IUZ0 | 307 | 335 | 303 | 341 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8IUZ0 | 307 | 335 | 279 | 317 | Domain | Note=LRRCT |
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SNVs in the skipped exons for LRRC49 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
LRRC49_LUSC_exon_skip_123285_psi_boxplot.png |
- 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_123280 | 71203871 | 71203937 | 71203901 | 71203901 | Frame_Shift_Del | A | - | p.L177fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_123280 | 71203871 | 71203937 | 71203901 | 71203901 | Frame_Shift_Del | A | - | p.L177fs |
COAD | TCGA-AZ-4615-01 | exon_skip_123281 | 71211389 | 71211532 | 71211452 | 71211452 | Frame_Shift_Del | T | - | p.N210fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_123289 exon_skip_123288 | 71276433 | 71276596 | 71276439 | 71276439 | Frame_Shift_Del | A | - | p.K338fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_123289 exon_skip_123288 | 71276433 | 71276596 | 71276546 | 71276546 | Frame_Shift_Del | C | - | p.D373fs |
STAD | TCGA-HU-A4GX-01 | exon_skip_123285 | 71272440 | 71272523 | 71272472 | 71272473 | Frame_Shift_Ins | - | A | p.A318fs |
STAD | TCGA-HU-A4GX-01 | exon_skip_123285 | 71272440 | 71272523 | 71272472 | 71272473 | Frame_Shift_Ins | - | A | p.A323fs |
STAD | TCGA-HU-A4GX-01 | exon_skip_123285 | 71272440 | 71272523 | 71272473 | 71272474 | Frame_Shift_Ins | - | A | p.A323fs |
BLCA | TCGA-G2-A2EO-01 | exon_skip_123283 | 71256124 | 71256271 | 71256227 | 71256227 | Nonsense_Mutation | C | T | p.Q293* |
COAD | TCGA-CA-6717-01 | exon_skip_123285 | 71272440 | 71272523 | 71272443 | 71272443 | Nonsense_Mutation | G | T | p.E309X |
UCEC | TCGA-B5-A11N-01 | exon_skip_123289 exon_skip_123288 | 71276433 | 71276596 | 71276466 | 71276466 | Nonsense_Mutation | C | T | p.R347* |
LUSC | TCGA-85-6560-01 | exon_skip_123285 | 71272440 | 71272523 | 71272438 | 71272438 | Splice_Site | A | T | p.E313_splice |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
BICR18_UPPER_AERODIGESTIVE_TRACT | 71272440 | 71272523 | 71272454 | 71272455 | Frame_Shift_Del | TA | - | p.M313fs |
BICR18_UPPER_AERODIGESTIVE_TRACT | 71272440 | 71272523 | 71272450 | 71272451 | Frame_Shift_Ins | - | AC | p.RR311fs |
BICR56_UPPER_AERODIGESTIVE_TRACT | 71188188 | 71188275 | 71188216 | 71188216 | Missense_Mutation | C | T | p.S45L |
SW684_SOFT_TISSUE | 71193261 | 71193363 | 71193302 | 71193302 | Missense_Mutation | C | T | p.P79S |
HEC1_ENDOMETRIUM | 71193261 | 71193363 | 71193303 | 71193303 | Missense_Mutation | C | A | p.P79H |
HT115_LARGE_INTESTINE | 71193261 | 71193363 | 71193335 | 71193335 | Missense_Mutation | C | A | p.L90I |
NCIH596_LUNG | 71193261 | 71193363 | 71193342 | 71193342 | Missense_Mutation | C | T | p.S92L |
HCC2814_LUNG | 71193261 | 71193363 | 71193350 | 71193350 | Missense_Mutation | T | A | p.L95M |
SNU81_LARGE_INTESTINE | 71203871 | 71203937 | 71203895 | 71203895 | Missense_Mutation | G | T | p.E175D |
BICR18_UPPER_AERODIGESTIVE_TRACT | 71203871 | 71203937 | 71203906 | 71203906 | Missense_Mutation | G | A | p.S179N |
BICR18_UPPER_AERODIGESTIVE_TRACT | 71211389 | 71211532 | 71211407 | 71211407 | Missense_Mutation | A | G | p.I196V |
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71211389 | 71211532 | 71211480 | 71211480 | Missense_Mutation | G | C | p.G220A |
YAPC_PANCREAS | 71211389 | 71211532 | 71211488 | 71211488 | Missense_Mutation | T | C | p.S223P |
KM12_LARGE_INTESTINE | 71256124 | 71256271 | 71256215 | 71256215 | Missense_Mutation | C | T | p.H289Y |
M14_SKIN | 71256124 | 71256271 | 71256222 | 71256222 | Missense_Mutation | T | G | p.V291G |
MDAMB435S_SKIN | 71256124 | 71256271 | 71256222 | 71256222 | Missense_Mutation | T | G | p.V291G |
HT115_LARGE_INTESTINE | 71256124 | 71256271 | 71256269 | 71256269 | Missense_Mutation | A | C | p.T307P |
MFE319_ENDOMETRIUM | 71272440 | 71272523 | 71272452 | 71272452 | Missense_Mutation | C | T | p.R312C |
K2_SKIN | 71276433 | 71276596 | 71276437 | 71276437 | Missense_Mutation | A | T | p.K337M |
OV7_OVARY | 71276433 | 71276596 | 71276491 | 71276491 | Missense_Mutation | G | A | p.R355Q |
EFO21_OVARY | 71276433 | 71276596 | 71276508 | 71276508 | Missense_Mutation | A | G | p.T361A |
NCIH841_LUNG | 71276433 | 71276596 | 71276577 | 71276577 | Missense_Mutation | G | A | p.A384T |
C80_LARGE_INTESTINE | 71188188 | 71188275 | 71188216 | 71188216 | Nonsense_Mutation | C | A | p.S45* |
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71188188 | 71188275 | 71188275 | 71188275 | Splice_Site | G | C | p.G65R |
CP66EBV_MATCHED_NORMAL_TISSUE | 71256124 | 71256271 | 71256270 | 71256270 | Splice_Site | C | T | p.T307M |
CP66MEL_SKIN | 71256124 | 71256271 | 71256270 | 71256270 | Splice_Site | C | T | p.T307M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRRC49 |
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_123289 | 15 | 71272439:71272523:71276432:71276596:71300717:71300777 | 71276432:71276596 | ENST00000559806.1,ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000560158.2,ENST00000559422.1,ENST00000560107.2,ENST00000561081.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1 | LGG | rs3834543 | chr15:71276480 | GCAA/G | 1.40e-03 |
exon_skip_123288 | 15 | 71256123:71256271:71276432:71276596:71300717:71300777 | 71276432:71276596 | ENST00000559685.1,ENST00000559069.1 | LGG | rs3834543 | chr15:71276480 | GCAA/G | 1.40e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRRC49 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRRC49 |
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RelatedDrugs for LRRC49 |
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 LRRC49 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |