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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 LRRFIP2

check button Gene summary
Gene informationGene symbol

LRRFIP2

Gene ID

9209

Gene nameLRR binding FLII interacting protein 2
SynonymsHUFI-2
Cytomap

3p22.2

Type of geneprotein-coding
Descriptionleucine-rich repeat flightless-interacting protein 2LRR FLII-interacting protein 2leucine rich repeat (in FLII) interacting protein 2
Modification date20180522
UniProtAcc

Q9Y608

ContextPubMed: LRRFIP2 [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 LRRFIP2 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 LRRFIP2

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 LRRFIP2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_382343337095901:37096006:37096576:37096656:37100280:3710040137096576:37096656ENSG00000093167.13ENST00000354379.4,ENST00000396428.2,ENST00000460646.1,ENST00000336686.4,ENST00000496479.1,ENST00000421307.1,ENST00000421276.2,ENST00000440230.1
exon_skip_382345337096576:37096656:37100280:37100401:37105232:3710528237100280:37100401ENSG00000093167.13ENST00000354379.4,ENST00000396428.2,ENST00000460646.1,ENST00000336686.4,ENST00000496479.1,ENST00000421307.1,ENST00000421276.2,ENST00000440230.1
exon_skip_382347337105232:37105282:37107300:37107433:37114280:3711437337107300:37107433ENSG00000093167.13ENST00000396428.2
exon_skip_382348337105232:37105282:37107300:37107433:37116514:3711660737107300:37107433ENSG00000093167.13ENST00000354379.4,ENST00000421276.2,ENST00000440230.1
exon_skip_382352337107300:37107433:37107714:37107816:37114280:3711437337107714:37107816ENSG00000093167.13ENST00000336686.4,ENST00000421307.1
exon_skip_382353337107300:37107433:37107714:37107816:37116514:3711660737107714:37107816ENSG00000093167.13ENST00000440742.2
exon_skip_382354337107300:37107433:37114280:37114373:37116514:3711660737114280:37114373ENSG00000093167.13ENST00000396428.2
exon_skip_382355337107714:37107816:37114280:37114373:37116514:3711660737114280:37114373ENSG00000093167.13ENST00000336686.4,ENST00000421307.1
exon_skip_382356337125135:37125297:37132957:37133029:37136282:3713639937132957:37133029ENSG00000093167.13ENST00000481682.1,ENST00000416425.1,ENST00000336686.4,ENST00000421307.1,ENST00000421276.2,ENST00000440230.1
exon_skip_382357337125135:37125297:37136282:37136399:37138106:3713815137136282:37136399ENSG00000093167.13ENST00000354379.4,ENST00000396428.2
exon_skip_382366337136282:37136399:37138106:37138151:37170553:3717064037138106:37138151ENSG00000093167.13ENST00000354379.4,ENST00000416425.1,ENST00000421276.2,ENST00000440230.1
exon_skip_382367337138106:37138151:37144414:37144504:37146945:3714701437144414:37144504ENSG00000093167.13ENST00000336686.4,ENST00000421307.1
exon_skip_382390337138106:37138151:37170553:37170640:37190384:3719052937170553:37170640ENSG00000093167.13ENST00000354379.4,ENST00000416425.1,ENST00000421276.2,ENST00000440230.1
exon_skip_382393337144414:37144504:37146945:37147014:37149563:3714962037146945:37147014ENSG00000093167.13ENST00000336686.4,ENST00000421307.1
exon_skip_382394337146945:37147014:37149563:37149620:37150127:3715017537149563:37149620ENSG00000093167.13ENST00000336686.4,ENST00000421307.1
exon_skip_382398337150127:37150175:37151017:37151062:37151143:3715119137151017:37151062ENSG00000093167.13ENST00000336686.4,ENST00000421307.1
exon_skip_382403337150127:37150175:37154405:37154471:37162982:3716302737154405:37154471ENSG00000093167.13ENST00000396428.2
exon_skip_382413337154405:37154471:37156544:37156586:37162982:3716302737156544:37156586ENSG00000093167.13ENST00000336686.4,ENST00000421307.1
exon_skip_382416337162982:37163027:37163125:37163182:37170553:3717064037163125:37163182ENSG00000093167.13ENST00000396428.2
exon_skip_382417337163156:37163182:37169120:37169171:37170553:3717064037169120:37169171ENSG00000093167.13ENST00000336686.4,ENST00000421307.1
exon_skip_382419337170553:37170640:37190384:37190529:37216029:3721605537190384:37190529ENSG00000093167.13ENST00000354379.4,ENST00000396428.2,ENST00000452742.1,ENST00000416425.1,ENST00000434749.1,ENST00000336686.4,ENST00000421307.1,ENST00000421276.2,ENST00000440230.1
exon_skip_382423337190417:37190529:37196104:37196147:37216029:3721605537196104:37196147ENSG00000093167.13ENST00000438374.1,ENST00000436858.1,ENST00000482466.1,ENST00000461672.1
exon_skip_382426337190417:37190529:37216029:37216096:37217550:3721763537216029:37216096ENSG00000093167.13ENST00000354379.4,ENST00000421276.2

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

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Exon skipping events with PSIs in GTEx for LRRFIP2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_382343337095901:37096006:37096576:37096656:37100280:3710040137096576:37096656ENSG00000093167.13ENST00000421307.1,ENST00000354379.4,ENST00000336686.4,ENST00000460646.1,ENST00000421276.2,ENST00000496479.1,ENST00000396428.2,ENST00000440230.1
exon_skip_382345337096576:37096656:37100280:37100401:37105232:3710528237100280:37100401ENSG00000093167.13ENST00000421307.1,ENST00000354379.4,ENST00000336686.4,ENST00000460646.1,ENST00000421276.2,ENST00000496479.1,ENST00000396428.2,ENST00000440230.1
exon_skip_382347337105232:37105282:37107300:37107433:37114280:3711437337107300:37107433ENSG00000093167.13ENST00000396428.2
exon_skip_382348337105232:37105282:37107300:37107433:37116514:3711660737107300:37107433ENSG00000093167.13ENST00000354379.4,ENST00000421276.2,ENST00000440230.1
exon_skip_382352337107300:37107433:37107714:37107816:37114280:3711437337107714:37107816ENSG00000093167.13ENST00000421307.1,ENST00000336686.4
exon_skip_382353337107300:37107433:37107714:37107816:37116514:3711660737107714:37107816ENSG00000093167.13ENST00000440742.2
exon_skip_382354337107300:37107433:37114280:37114373:37116514:3711660737114280:37114373ENSG00000093167.13ENST00000396428.2
exon_skip_382355337107714:37107816:37114280:37114373:37116514:3711660737114280:37114373ENSG00000093167.13ENST00000421307.1,ENST00000336686.4
exon_skip_382356337125135:37125297:37132957:37133029:37136282:3713639937132957:37133029ENSG00000093167.13ENST00000421307.1,ENST00000336686.4,ENST00000421276.2,ENST00000440230.1,ENST00000416425.1,ENST00000481682.1
exon_skip_382357337125135:37125297:37136282:37136399:37138106:3713815137136282:37136399ENSG00000093167.13ENST00000354379.4,ENST00000396428.2
exon_skip_382366337136282:37136399:37138106:37138151:37170553:3717064037138106:37138151ENSG00000093167.13ENST00000354379.4,ENST00000421276.2,ENST00000440230.1,ENST00000416425.1
exon_skip_382367337138106:37138151:37144414:37144504:37146945:3714701437144414:37144504ENSG00000093167.13ENST00000421307.1,ENST00000336686.4
exon_skip_382375337138106:37138151:37150127:37150175:37154405:3715447137150127:37150175ENSG00000093167.13ENST00000396428.2
exon_skip_382390337138106:37138151:37170553:37170640:37190384:3719052937170553:37170640ENSG00000093167.13ENST00000354379.4,ENST00000421276.2,ENST00000440230.1,ENST00000416425.1
exon_skip_382393337144414:37144504:37146945:37147014:37149563:3714962037146945:37147014ENSG00000093167.13ENST00000421307.1,ENST00000336686.4
exon_skip_382394337146945:37147014:37149563:37149620:37150127:3715017537149563:37149620ENSG00000093167.13ENST00000421307.1,ENST00000336686.4
exon_skip_382398337150127:37150175:37151017:37151062:37151143:3715119137151017:37151062ENSG00000093167.13ENST00000421307.1,ENST00000336686.4
exon_skip_382403337150127:37150175:37154405:37154471:37162982:3716302737154405:37154471ENSG00000093167.13ENST00000396428.2
exon_skip_382413337154405:37154471:37156544:37156586:37162982:3716302737156544:37156586ENSG00000093167.13ENST00000421307.1,ENST00000336686.4
exon_skip_382416337162982:37163027:37163125:37163182:37170553:3717064037163125:37163182ENSG00000093167.13ENST00000396428.2
exon_skip_382417337163156:37163182:37169120:37169171:37170553:3717064037169120:37169171ENSG00000093167.13ENST00000421307.1,ENST00000336686.4
exon_skip_382419337170553:37170640:37190384:37190529:37216029:3721605537190384:37190529ENSG00000093167.13ENST00000421307.1,ENST00000354379.4,ENST00000336686.4,ENST00000421276.2,ENST00000396428.2,ENST00000440230.1,ENST00000416425.1,ENST00000434749.1,ENST00000452742.1
exon_skip_382423337190417:37190529:37196104:37196147:37216029:3721605537196104:37196147ENSG00000093167.13ENST00000461672.1,ENST00000438374.1,ENST00000436858.1,ENST00000482466.1
exon_skip_382426337190417:37190529:37216029:37216096:37217550:3721763537216029:37216096ENSG00000093167.13ENST00000354379.4,ENST00000421276.2

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 LRRFIP2

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
ENST0000033668637190384371905293UTR-3CDS
ENST000003366863709657637096656Frame-shift
ENST000003366863710028037100401Frame-shift
ENST000003366863710771437107816In-frame
ENST000003366863711428037114373In-frame
ENST000003366863713295737133029In-frame
ENST000003366863714441437144504In-frame
ENST000003366863714694537147014In-frame
ENST000003366863714956337149620In-frame
ENST000003366863715101737151062In-frame
ENST000003366863715654437156586In-frame
ENST000003366863716912037169171In-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
ENST0000033668637190384371905293UTR-3CDS
ENST000003366863709657637096656Frame-shift
ENST000003366863710028037100401Frame-shift
ENST000003366863710771437107816In-frame
ENST000003366863711428037114373In-frame
ENST000003366863713295737133029In-frame
ENST000003366863714441437144504In-frame
ENST000003366863714694537147014In-frame
ENST000003366863714956337149620In-frame
ENST000003366863715101737151062In-frame
ENST000003366863715654437156586In-frame
ENST000003366863716912037169171In-frame

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Infer the effects of exon skipping event on protein functional features for LRRFIP2

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
ENST00000336686322572137169120371691712593095976
ENST0000033668632257213715654437156586412453110124
ENST0000033668632257213715101737151062646690188203
ENST0000033668632257213714956337149620739795219238
ENST0000033668632257213714694537147014796864238261
ENST0000033668632257213714441437144504865954261291
ENST000003366863225721371329573713302911171188345369
ENST000003366863225721371142803711437314531545457488
ENST000003366863225721371077143710781615461647488522

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
ENST00000336686322572137169120371691712593095976
ENST0000033668632257213715654437156586412453110124
ENST0000033668632257213715101737151062646690188203
ENST0000033668632257213714956337149620739795219238
ENST0000033668632257213714694537147014796864238261
ENST0000033668632257213714441437144504865954261291
ENST000003366863225721371329573713302911171188345369
ENST000003366863225721371142803711437314531545457488
ENST000003366863225721371077143710781615461647488522

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
Q9Y60859761621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608597660291Alternative sequenceID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y60859766076Alternative sequenceID=VSP_056969;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y60859761721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y60859761370RegionNote=DVL3-binding
Q9Y6081101241621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y60811012460291Alternative sequenceID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608110124111124Alternative sequenceID=VSP_056970;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6081101241721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608110124118342Compositional biasNote=Ser-rich
Q9Y6081101241370RegionNote=DVL3-binding
Q9Y6081882031621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y60818820360291Alternative sequenceID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608188203146202Alternative sequenceID=VSP_056971;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6081882031721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608188203118342Compositional biasNote=Ser-rich
Q9Y608188203190190Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608188203202202Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608188203190190MutagenesisNote=No change in LPS-induced NFKB activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608188203200200MutagenesisNote=No change in LPS-induced NFKB activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608188203202202MutagenesisNote=Reduction in LPS-induced NFKB activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608188203202202MutagenesisNote=No change in LPS-induced NFKB activity. Interacts with MYD88 in an LPS-inducible manner. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220426;Dbxref=PMID:21220426
Q9Y6081882031370RegionNote=DVL3-binding
Q9Y6082192381621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y60821923860291Alternative sequenceID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608219238220291Alternative sequenceID=VSP_056972;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6082192381721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608219238118342Compositional biasNote=Ser-rich
Q9Y6082192381370RegionNote=DVL3-binding
Q9Y6082382611621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y60823826160291Alternative sequenceID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608238261220291Alternative sequenceID=VSP_056972;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6082382611721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608238261118342Compositional biasNote=Ser-rich
Q9Y6082382611370RegionNote=DVL3-binding
Q9Y6082612911621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y60826129160291Alternative sequenceID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608261291220291Alternative sequenceID=VSP_056972;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6082612911721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608261291118342Compositional biasNote=Ser-rich
Q9Y6082612911370RegionNote=DVL3-binding
Q9Y6083453691621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608345369346369Alternative sequenceID=VSP_019676;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y6083453691721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608345369349524Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6083453691370RegionNote=DVL3-binding
Q9Y6084574881621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608457488457521Alternative sequenceID=VSP_019677;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y6084574881721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608457488349524Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6084885221621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608488522457521Alternative sequenceID=VSP_019677;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608488522489522Alternative sequenceID=VSP_056973;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6084885221721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608488522349524Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255


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
Q9Y60859761621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608597660291Alternative sequenceID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y60859766076Alternative sequenceID=VSP_056969;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y60859761721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y60859761370RegionNote=DVL3-binding
Q9Y6081101241621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y60811012460291Alternative sequenceID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608110124111124Alternative sequenceID=VSP_056970;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6081101241721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608110124118342Compositional biasNote=Ser-rich
Q9Y6081101241370RegionNote=DVL3-binding
Q9Y6081882031621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y60818820360291Alternative sequenceID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608188203146202Alternative sequenceID=VSP_056971;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6081882031721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608188203118342Compositional biasNote=Ser-rich
Q9Y608188203190190Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608188203202202Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608188203190190MutagenesisNote=No change in LPS-induced NFKB activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608188203200200MutagenesisNote=No change in LPS-induced NFKB activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608188203202202MutagenesisNote=Reduction in LPS-induced NFKB activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220426;Dbxref=PMID:21220426
Q9Y608188203202202MutagenesisNote=No change in LPS-induced NFKB activity. Interacts with MYD88 in an LPS-inducible manner. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21220426;Dbxref=PMID:21220426
Q9Y6081882031370RegionNote=DVL3-binding
Q9Y6082192381621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y60821923860291Alternative sequenceID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608219238220291Alternative sequenceID=VSP_056972;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6082192381721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608219238118342Compositional biasNote=Ser-rich
Q9Y6082192381370RegionNote=DVL3-binding
Q9Y6082382611621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y60823826160291Alternative sequenceID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608238261220291Alternative sequenceID=VSP_056972;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6082382611721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608238261118342Compositional biasNote=Ser-rich
Q9Y6082382611370RegionNote=DVL3-binding
Q9Y6082612911621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y60826129160291Alternative sequenceID=VSP_019675;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608261291220291Alternative sequenceID=VSP_056972;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6082612911721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608261291118342Compositional biasNote=Ser-rich
Q9Y6082612911370RegionNote=DVL3-binding
Q9Y6083453691621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608345369346369Alternative sequenceID=VSP_019676;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y6083453691721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608345369349524Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6083453691370RegionNote=DVL3-binding
Q9Y6084574881621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608457488457521Alternative sequenceID=VSP_019677;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y6084574881721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608457488349524Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y6084885221621Alternative sequenceID=VSP_019674;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q9Y608488522457521Alternative sequenceID=VSP_019677;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9Y608488522489522Alternative sequenceID=VSP_056973;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y6084885221721ChainID=PRO_0000245246;Note=Leucine-rich repeat flightless-interacting protein 2
Q9Y608488522349524Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for LRRFIP2

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.
LRRFIP2_LIHC_exon_skip_382417_psi_boxplot.png
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check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
COADTCGA-G4-6588-01exon_skip_382354
exon_skip_382355
37114281371143733711428637114286Frame_Shift_DelT-p.I487fs
LIHCTCGA-DD-A3A0-01exon_skip_382354
exon_skip_382355
37114281371143733711428637114286Frame_Shift_DelT-p.I487fs
STADTCGA-HU-A4G9-01exon_skip_382354
exon_skip_382355
37114281371143733711428637114286Frame_Shift_DelT-p.I487fs
STADTCGA-HU-A4GU-01exon_skip_382354
exon_skip_382355
37114281371143733711428637114286Frame_Shift_DelT-p.I487fs
LIHCTCGA-DD-A1EG-01exon_skip_382357
37136283371363993713633037136330Frame_Shift_DelC-p.D330fs
LIHCTCGA-DD-A39Y-01exon_skip_382417
37169121371691713716914037169140Frame_Shift_DelC-p.G70fs
STADTCGA-CG-4305-01exon_skip_382354
exon_skip_382355
37114281371143733711428537114286Frame_Shift_Ins-Tp.I487fs
STADTCGA-CG-4305-01exon_skip_382354
exon_skip_382355
37114281371143733711428637114287Frame_Shift_Ins-Tp.I487fs
READTCGA-EI-6917-01exon_skip_382353
exon_skip_382352
37107715371078163710779837107798Nonsense_MutationCAp.E495X
UCECTCGA-AX-A05Z-01exon_skip_382353
exon_skip_382352
37107715371078163710779837107798Nonsense_MutationCAp.E495*
UCECTCGA-B5-A0JY-01exon_skip_382353
exon_skip_382352
37107715371078163710779837107798Nonsense_MutationCAp.E495*
UCSTCGA-ND-A4WC-01exon_skip_382353
exon_skip_382352
37107715371078163710779837107798Nonsense_MutationCAp.E495*
UCSTCGA-ND-A4WC-01exon_skip_382353
exon_skip_382352
37107715371078163710779837107798Nonsense_MutationCAp.E495X
UCECTCGA-BS-A0UF-01exon_skip_382354
exon_skip_382355
37114281371143733711435237114352Nonsense_MutationTAp.K465*
READTCGA-F5-6814-01exon_skip_382390
37170554371706403717055637170556Nonsense_MutationCAp.E59X
COADTCGA-AA-3554-01exon_skip_382390
37170554371706403717056837170568Nonsense_MutationGAp.R55X
COADTCGA-D5-6928-01exon_skip_382390
37170554371706403717056837170568Nonsense_MutationGAp.R55X
LUADTCGA-55-8089-01exon_skip_382390
37170554371706403717057737170577Nonsense_MutationCAp.E52*
THYMTCGA-ZB-A963-01exon_skip_382390
37170554371706403717063737170637Nonsense_MutationCAp.E32X
LIHCTCGA-DD-AACI-01exon_skip_382356
37132958371330293713303137133031Splice_SiteTC.
LIHCTCGA-DD-A39Y-01exon_skip_382394
37149564371496203714956337149563Splice_SiteC-.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
LRRFIP2_37163156_37163182_37169120_37169171_37170553_37170640_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_382417
Skipped exon start: 37169121
Skipped exon end: 37169171
Mutation start: 37169140
Mutation end: 37169140
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G70fs
LRRFIP2_37163156_37163182_37169120_37169171_37170553_37170640_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_382394
Skipped exon start: 37149564
Skipped exon end: 37149620
Mutation start: 37149563
Mutation end: 37149563
Mutation type: Splice_Site
Reference seq: C
Mutation seq: -
AAchange: .
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png
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exon_skip_112042_LIHC_TCGA-DD-A39Y-01.png
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LRRFIP2_37107300_37107433_37114280_37114373_37116514_37116607_TCGA-BS-A0UF-01Sample: TCGA-BS-A0UF-01
Cancer type: UCEC
ESID: exon_skip_382355
Skipped exon start: 37114281
Skipped exon end: 37114373
Mutation start: 37114352
Mutation end: 37114352
Mutation type: Nonsense_Mutation
Reference seq: T
Mutation seq: A
AAchange: p.K465*
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LRRFIP2_37107300_37107433_37114280_37114373_37116514_37116607_TCGA-G4-6588-01Sample: TCGA-G4-6588-01
Cancer type: COAD
ESID: exon_skip_382355
Skipped exon start: 37114281
Skipped exon end: 37114373
Mutation start: 37114286
Mutation end: 37114286
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.I487fs
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LRRFIP2_37107300_37107433_37114280_37114373_37116514_37116607_TCGA-CG-4305-01Sample: TCGA-CG-4305-01
Cancer type: STAD
ESID: exon_skip_382355
Skipped exon start: 37114281
Skipped exon end: 37114373
Mutation start: 37114285
Mutation end: 37114286
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.I487fs
LRRFIP2_37107300_37107433_37114280_37114373_37116514_37116607_TCGA-CG-4305-01Sample: TCGA-CG-4305-01
Cancer type: STAD
ESID: exon_skip_382355
Skipped exon start: 37114281
Skipped exon end: 37114373
Mutation start: 37114286
Mutation end: 37114287
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.I487fs
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LRRFIP2_37107300_37107433_37114280_37114373_37116514_37116607_TCGA-HU-A4G9-01Sample: TCGA-HU-A4G9-01
Cancer type: STAD
ESID: exon_skip_382355
Skipped exon start: 37114281
Skipped exon end: 37114373
Mutation start: 37114286
Mutation end: 37114286
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.I487fs
exon_skip_124857_STAD_TCGA-HU-A4G9-01.png
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LRRFIP2_37107300_37107433_37114280_37114373_37116514_37116607_TCGA-HU-A4GU-01Sample: TCGA-HU-A4GU-01
Cancer type: STAD
ESID: exon_skip_382355
Skipped exon start: 37114281
Skipped exon end: 37114373
Mutation start: 37114286
Mutation end: 37114286
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.I487fs
exon_skip_109771_STAD_TCGA-HU-A4GU-01.png
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LRRFIP2_37107300_37107433_37107714_37107816_37116514_37116607_TCGA-EI-6917-01Sample: TCGA-EI-6917-01
Cancer type: READ
ESID: exon_skip_382352
Skipped exon start: 37107715
Skipped exon end: 37107816
Mutation start: 37107798
Mutation end: 37107798
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.E495X
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LRRFIP2_37107300_37107433_37107714_37107816_37116514_37116607_TCGA-AX-A05Z-01Sample: TCGA-AX-A05Z-01
Cancer type: UCEC
ESID: exon_skip_382352
Skipped exon start: 37107715
Skipped exon end: 37107816
Mutation start: 37107798
Mutation end: 37107798
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.E495*
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LRRFIP2_37107300_37107433_37107714_37107816_37116514_37116607_TCGA-B5-A0JY-01Sample: TCGA-B5-A0JY-01
Cancer type: UCEC
ESID: exon_skip_382352
Skipped exon start: 37107715
Skipped exon end: 37107816
Mutation start: 37107798
Mutation end: 37107798
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.E495*
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LRRFIP2_37107300_37107433_37107714_37107816_37116514_37116607_TCGA-ND-A4WC-01Sample: TCGA-ND-A4WC-01
Cancer type: UCS
ESID: exon_skip_382352
Skipped exon start: 37107715
Skipped exon end: 37107816
Mutation start: 37107798
Mutation end: 37107798
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.E495X
LRRFIP2_37107300_37107433_37107714_37107816_37116514_37116607_TCGA-ND-A4WC-01Sample: TCGA-ND-A4WC-01
Cancer type: UCS
ESID: exon_skip_382352
Skipped exon start: 37107715
Skipped exon end: 37107816
Mutation start: 37107798
Mutation end: 37107798
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.E495*
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
OC316_OVARY37114281371143733711428637114286Frame_Shift_DelT-p.I487fs
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37114281371143733711428637114286Frame_Shift_DelT-p.I487fs
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37114281371143733711428637114286Frame_Shift_DelT-p.I487fs
JHH1_LIVER37114281371143733711428537114286Frame_Shift_Ins-Tp.I487fs
HSC3_UPPER_AERODIGESTIVE_TRACT37138107371381513713811437138115Frame_Shift_Ins-ACp.Y304fs
JHESOAD1_OESOPHAGUS37163126371631823716316537163166Frame_Shift_Ins-GCCCp.-82fs
NCIH292_LUNG37096577370966563709660637096606Missense_MutationCTp.E641K
SNU1040_LARGE_INTESTINE37096577370966563709665037096650Missense_MutationGAp.A626V
ESS1_ENDOMETRIUM37114281371143733711430437114304Missense_MutationGTp.L481I
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37132958371330293713302237133022Missense_MutationTAp.Y348F
KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37136283371363993713628637136286Missense_MutationCAp.L344F
NCIH1573_LUNG37136283371363993713633337136333Missense_MutationCTp.G329R
D423MG_CENTRAL_NERVOUS_SYSTEM37144415371445043714447337144473Missense_MutationTCp.N272S
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37144415371445043714448237144482Missense_MutationCTp.S269N
HEC251_ENDOMETRIUM37146946371470143714700537147005Missense_MutationCTp.D242N
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37149564371496203714958137149581Missense_MutationCTp.A233T
HEC251_ENDOMETRIUM37151018371510623715104737151047Missense_MutationTCp.N194D
KMH2_THYROID37154406371544713715444437154444Missense_MutationTGp.M134L
HEC59_ENDOMETRIUM37156545371565863715656737156567Missense_MutationCTp.R117K
MFE296_ENDOMETRIUM37163126371631823716316737163167Missense_MutationCGp.A82P
WM35_SKIN37169121371691713716915037169150Missense_MutationGAp.R67W
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37170554371706403717057337170573Missense_MutationATp.L53Q
HN_UPPER_AERODIGESTIVE_TRACT37170554371706403717058537170585Missense_MutationCTp.R49H
SNU1040_LARGE_INTESTINE37170554371706403717058537170585Missense_MutationCTp.R49H
CHL1_SKIN37170554371706403717059437170594Missense_MutationCTp.R46K
HMCB_SKIN37170554371706403717059437170594Missense_MutationCTp.R46K
HEC108_ENDOMETRIUM37170554371706403717060737170607Missense_MutationGAp.R42W
SNUC1_LARGE_INTESTINE37136283371363993713637737136377Nonsense_MutationGTp.S314*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRRFIP2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRRFIP2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRRFIP2


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RelatedDrugs for LRRFIP2

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 LRRFIP2

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