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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for LRRC49

check button Gene summary
Gene informationGene symbol

LRRC49

Gene ID

54839

Gene nameleucine rich repeat containing 49
SynonymsPGs4
Cytomap

15q23

Type of geneprotein-coding
Descriptionleucine-rich repeat-containing protein 49tubulin polyglutamylase complex subunit 4
Modification date20180529
UniProtAcc

Q8IUZ0

ContextPubMed: LRRC49 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for LRRC49 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for LRRC49

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for LRRC49

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1232691571185922:71185979:71186910:71187008:71188187:7118827571186910:71187008ENSG00000137821.7ENST00000559201.1
exon_skip_1232701571185922:71185979:71186910:71187094:71188187:7118827571186910:71187094ENSG00000137821.7ENST00000558032.1,ENST00000558204.1
exon_skip_1232711571185922:71185979:71188187:71188275:71193260:7119329071188187:71188275ENSG00000137821.7ENST00000544974.2,ENST00000557977.1,ENST00000558546.1,ENST00000560980.1,ENST00000260382.5
exon_skip_1232721571185922:71185979:71188187:71188275:71196890:7119693571188187:71188275ENSG00000137821.7ENST00000560107.2
exon_skip_1232741571188187:71188275:71190705:71190794:71193260:7119329071190705:71190794ENSG00000137821.7ENST00000558271.1,ENST00000558032.1,ENST00000561081.1,ENST00000443425.2
exon_skip_1232761571188187:71188275:71192795:71192921:71193260:7119329071192795:71192921ENSG00000137821.7ENST00000560755.1
exon_skip_1232771571188187:71188275:71193260:71193363:71196890:7119693571193260:71193363ENSG00000137821.7ENST00000559201.1,ENST00000560369.1,ENST00000544974.2,ENST00000557977.1,ENST00000558546.1,ENST00000560980.1,ENST00000260382.5
exon_skip_1232791571196890:71197094:71200942:71201015:71203870:7120390071200942:71201015ENSG00000137821.7ENST00000560691.1
exon_skip_1232801571196890:71197094:71203870:71203937:71211388:7121153271203870:71203937ENSG00000137821.7ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000558137.1,ENST00000560107.2,ENST00000559670.1,ENST00000561081.1,ENST00000260382.5,ENST00000443425.2
exon_skip_1232811571203870:71203937:71211388:71211532:71229099:7122916171211388:71211532ENSG00000137821.7ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000558137.1,ENST00000560107.2,ENST00000561285.1,ENST00000561081.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1
exon_skip_1232821571211388:71211532:71229099:71229161:71256123:7125622271229099:71229161ENSG00000137821.7ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000558137.1,ENST00000560107.2,ENST00000561285.1,ENST00000561081.1,ENST00000559469.1,ENST00000560980.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1
exon_skip_1232831571228866:71229161:71256123:71256271:71272439:7127252371256123:71256271ENSG00000137821.7ENST00000559806.1,ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000558808.1,ENST00000558456.1,ENST00000560107.2,ENST00000561081.1,ENST00000560980.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1
exon_skip_1232851571256123:71256271:71272439:71272523:71276432:7127654471272439:71272523ENSG00000137821.7ENST00000559806.1,ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000558808.1,ENST00000558456.1,ENST00000560107.2,ENST00000561081.1,ENST00000560980.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1
exon_skip_1232881571256123:71256271:71276432:71276596:71300717:7130077771276432:71276596ENSG00000137821.7ENST00000559685.1,ENST00000559069.1
exon_skip_1232891571272439:71272523:71276432:71276596:71300717:7130077771276432:71276596ENSG00000137821.7ENST00000559806.1,ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000560158.2,ENST00000559422.1,ENST00000560107.2,ENST00000561081.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1
exon_skip_1232901571300717:71300955:71301916:71301983:71302145:7130231771301916:71301983ENSG00000137821.7ENST00000559422.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for LRRC49

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1232661571145716:71145808:71165246:71165562:71196890:7119703971165246:71165562ENSG00000137821.7ENST00000558799.1
exon_skip_1232691571185922:71185979:71186910:71187008:71188187:7118827571186910:71187008ENSG00000137821.7ENST00000559201.1
exon_skip_1232701571185922:71185979:71186910:71187094:71188187:7118827571186910:71187094ENSG00000137821.7ENST00000558032.1,ENST00000558204.1
exon_skip_1232711571185922:71185979:71188187:71188275:71193260:7119329071188187:71188275ENSG00000137821.7ENST00000544974.2,ENST00000558546.1,ENST00000260382.5,ENST00000560980.1,ENST00000557977.1
exon_skip_1232721571185922:71185979:71188187:71188275:71196890:7119693571188187:71188275ENSG00000137821.7ENST00000560107.2
exon_skip_1232741571188187:71188275:71190705:71190794:71193260:7119329071190705:71190794ENSG00000137821.7ENST00000561081.1,ENST00000443425.2,ENST00000558032.1,ENST00000558271.1
exon_skip_1232771571188187:71188275:71193260:71193363:71196890:7119693571193260:71193363ENSG00000137821.7ENST00000544974.2,ENST00000558546.1,ENST00000559201.1,ENST00000560369.1,ENST00000260382.5,ENST00000560980.1,ENST00000557977.1
exon_skip_1232791571196890:71197094:71200942:71201015:71203870:7120390071200942:71201015ENSG00000137821.7ENST00000560691.1
exon_skip_1232801571196890:71197094:71203870:71203937:71211388:7121153271203870:71203937ENSG00000137821.7ENST00000544974.2,ENST00000561081.1,ENST00000560107.2,ENST00000560369.1,ENST00000260382.5,ENST00000559670.1,ENST00000443425.2,ENST00000436542.2,ENST00000558137.1
exon_skip_1232811571203870:71203937:71211388:71211532:71229099:7122916171211388:71211532ENSG00000137821.7ENST00000544974.2,ENST00000561081.1,ENST00000560107.2,ENST00000560369.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1,ENST00000436542.2,ENST00000558137.1,ENST00000561285.1
exon_skip_1232821571211388:71211532:71229099:71229161:71256123:7125622271229099:71229161ENSG00000137821.7ENST00000544974.2,ENST00000561081.1,ENST00000560107.2,ENST00000560369.1,ENST00000260382.5,ENST00000443425.2,ENST00000560980.1,ENST00000560691.1,ENST00000436542.2,ENST00000558137.1,ENST00000561285.1,ENST00000559469.1
exon_skip_1232831571228866:71229161:71256123:71256271:71272439:7127252371256123:71256271ENSG00000137821.7ENST00000544974.2,ENST00000561081.1,ENST00000560107.2,ENST00000560369.1,ENST00000260382.5,ENST00000443425.2,ENST00000560980.1,ENST00000560691.1,ENST00000436542.2,ENST00000558456.1,ENST00000558808.1,ENST00000559806.1
exon_skip_1232851571256123:71256271:71272439:71272523:71276432:7127654471272439:71272523ENSG00000137821.7ENST00000544974.2,ENST00000561081.1,ENST00000560107.2,ENST00000560369.1,ENST00000260382.5,ENST00000443425.2,ENST00000560980.1,ENST00000560691.1,ENST00000436542.2,ENST00000558456.1,ENST00000558808.1,ENST00000559806.1
exon_skip_1232881571256123:71256271:71276432:71276596:71300717:7130077771276432:71276596ENSG00000137821.7ENST00000559069.1,ENST00000559685.1
exon_skip_1232891571272439:71272523:71276432:71276596:71300717:7130077771276432:71276596ENSG00000137821.7ENST00000544974.2,ENST00000561081.1,ENST00000560107.2,ENST00000560369.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1,ENST00000436542.2,ENST00000560158.2,ENST00000559806.1,ENST00000559422.1
exon_skip_1232901571300717:71300955:71301916:71301983:71302145:7130231771301916:71301983ENSG00000137821.7ENST00000559422.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for LRRC49

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002603827118818771188275Frame-shift
ENST000002603827119326071193363Frame-shift
ENST000002603827120387071203937Frame-shift
ENST000002603827122909971229161Frame-shift
ENST000002603827125612371256271Frame-shift
ENST000002603827127643271276596Frame-shift
ENST000002603827121138871211532In-frame
ENST000002603827127243971272523In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002603827118818771188275Frame-shift
ENST000002603827119326071193363Frame-shift
ENST000002603827120387071203937Frame-shift
ENST000002603827122909971229161Frame-shift
ENST000002603827125612371256271Frame-shift
ENST000002603827127643271276596Frame-shift
ENST000002603827121138871211532In-frame
ENST000002603827127243971272523In-frame

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Infer the effects of exon skipping event on protein functional features for LRRC49

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000026038228016867121138871211532828971189237
ENST000002603822801686712724397127252311821265307335

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000026038228016867121138871211532828971189237
ENST000002603822801686712724397127252311821265307335

check button 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 featureDescription of feature
Q8IUZ01892371686ChainID=PRO_0000233034;Note=Leucine-rich repeat-containing protein 49
Q8IUZ0189237179200RepeatNote=LRR 4
Q8IUZ0189237201222RepeatNote=LRR 5
Q8IUZ0189237223244RepeatNote=LRR 6
Q8IUZ03073351686ChainID=PRO_0000233034;Note=Leucine-rich repeat-containing protein 49
Q8IUZ0307335303341Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8IUZ0307335279317DomainNote=LRRCT


check button 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 featureDescription of feature
Q8IUZ01892371686ChainID=PRO_0000233034;Note=Leucine-rich repeat-containing protein 49
Q8IUZ0189237179200RepeatNote=LRR 4
Q8IUZ0189237201222RepeatNote=LRR 5
Q8IUZ0189237223244RepeatNote=LRR 6
Q8IUZ03073351686ChainID=PRO_0000233034;Note=Leucine-rich repeat-containing protein 49
Q8IUZ0307335303341Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q8IUZ0307335279317DomainNote=LRRCT


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SNVs in the skipped exons for LRRC49

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
LRRC49_LUSC_exon_skip_123285_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_123280
71203871712039377120390171203901Frame_Shift_DelA-p.L177fs
LIHCTCGA-DD-A39Y-01exon_skip_123280
71203871712039377120390171203901Frame_Shift_DelA-p.L177fs
COADTCGA-AZ-4615-01exon_skip_123281
71211389712115327121145271211452Frame_Shift_DelT-p.N210fs
LIHCTCGA-DD-A39Y-01exon_skip_123289
exon_skip_123288
71276433712765967127643971276439Frame_Shift_DelA-p.K338fs
LIHCTCGA-DD-A3A0-01exon_skip_123289
exon_skip_123288
71276433712765967127654671276546Frame_Shift_DelC-p.D373fs
STADTCGA-HU-A4GX-01exon_skip_123285
71272440712725237127247271272473Frame_Shift_Ins-Ap.A318fs
STADTCGA-HU-A4GX-01exon_skip_123285
71272440712725237127247271272473Frame_Shift_Ins-Ap.A323fs
STADTCGA-HU-A4GX-01exon_skip_123285
71272440712725237127247371272474Frame_Shift_Ins-Ap.A323fs
BLCATCGA-G2-A2EO-01exon_skip_123283
71256124712562717125622771256227Nonsense_MutationCTp.Q293*
COADTCGA-CA-6717-01exon_skip_123285
71272440712725237127244371272443Nonsense_MutationGTp.E309X
UCECTCGA-B5-A11N-01exon_skip_123289
exon_skip_123288
71276433712765967127646671276466Nonsense_MutationCTp.R347*
LUSCTCGA-85-6560-01exon_skip_123285
71272440712725237127243871272438Splice_SiteATp.E313_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
LRRC49_71256123_71256271_71272439_71272523_71276432_71276544_TCGA-85-6560-01Sample: TCGA-85-6560-01
Cancer type: LUSC
ESID: exon_skip_123285
Skipped exon start: 71272440
Skipped exon end: 71272523
Mutation start: 71272438
Mutation end: 71272438
Mutation type: Splice_Site
Reference seq: A
Mutation seq: T
AAchange: p.E313_splice
exon_skip_123285_LUSC_TCGA-85-6560-01.png
boxplot
exon_skip_473597_LUSC_TCGA-85-6560-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BICR18_UPPER_AERODIGESTIVE_TRACT71272440712725237127245471272455Frame_Shift_DelTA-p.M313fs
BICR18_UPPER_AERODIGESTIVE_TRACT71272440712725237127245071272451Frame_Shift_Ins-ACp.RR311fs
BICR56_UPPER_AERODIGESTIVE_TRACT71188188711882757118821671188216Missense_MutationCTp.S45L
SW684_SOFT_TISSUE71193261711933637119330271193302Missense_MutationCTp.P79S
HEC1_ENDOMETRIUM71193261711933637119330371193303Missense_MutationCAp.P79H
HT115_LARGE_INTESTINE71193261711933637119333571193335Missense_MutationCAp.L90I
NCIH596_LUNG71193261711933637119334271193342Missense_MutationCTp.S92L
HCC2814_LUNG71193261711933637119335071193350Missense_MutationTAp.L95M
SNU81_LARGE_INTESTINE71203871712039377120389571203895Missense_MutationGTp.E175D
BICR18_UPPER_AERODIGESTIVE_TRACT71203871712039377120390671203906Missense_MutationGAp.S179N
BICR18_UPPER_AERODIGESTIVE_TRACT71211389712115327121140771211407Missense_MutationAGp.I196V
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71211389712115327121148071211480Missense_MutationGCp.G220A
YAPC_PANCREAS71211389712115327121148871211488Missense_MutationTCp.S223P
KM12_LARGE_INTESTINE71256124712562717125621571256215Missense_MutationCTp.H289Y
M14_SKIN71256124712562717125622271256222Missense_MutationTGp.V291G
MDAMB435S_SKIN71256124712562717125622271256222Missense_MutationTGp.V291G
HT115_LARGE_INTESTINE71256124712562717125626971256269Missense_MutationACp.T307P
MFE319_ENDOMETRIUM71272440712725237127245271272452Missense_MutationCTp.R312C
K2_SKIN71276433712765967127643771276437Missense_MutationATp.K337M
OV7_OVARY71276433712765967127649171276491Missense_MutationGAp.R355Q
EFO21_OVARY71276433712765967127650871276508Missense_MutationAGp.T361A
NCIH841_LUNG71276433712765967127657771276577Missense_MutationGAp.A384T
C80_LARGE_INTESTINE71188188711882757118821671188216Nonsense_MutationCAp.S45*
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71188188711882757118827571188275Splice_SiteGCp.G65R
CP66EBV_MATCHED_NORMAL_TISSUE71256124712562717125627071256270Splice_SiteCTp.T307M
CP66MEL_SKIN71256124712562717125627071256270Splice_SiteCTp.T307M

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRRC49

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_1232891571272439:71272523:71276432:71276596:71300717:7130077771276432:71276596ENST00000559806.1,ENST00000560369.1,ENST00000544974.2,ENST00000436542.2,ENST00000560158.2,ENST00000559422.1,ENST00000560107.2,ENST00000561081.1,ENST00000260382.5,ENST00000443425.2,ENST00000560691.1LGGrs3834543chr15:71276480GCAA/G1.40e-03
exon_skip_1232881571256123:71256271:71276432:71276596:71300717:7130077771276432:71276596ENST00000559685.1,ENST00000559069.1LGGrs3834543chr15:71276480GCAA/G1.40e-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

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for LRRC49

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource