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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 LAMB1

check button Gene summary
Gene informationGene symbol

LAMB1

Gene ID

3912

Gene namelaminin subunit beta 1
SynonymsCLM|LIS5
Cytomap

7q31.1

Type of geneprotein-coding
Descriptionlaminin subunit beta-1laminin B1 chainlaminin, beta 1
Modification date20180522
UniProtAcc

P07942

ContextPubMed: LAMB1 [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
LAMB1

GO:0030335

positive regulation of cell migration

16289578

LAMB1

GO:0031175

neuron projection development

15894315

LAMB1

GO:0034446

substrate adhesion-dependent cell spreading

16236823

LAMB1

GO:0042476

odontogenesis

15894315


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Exon skipping events across known transcript of Ensembl for LAMB1 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 LAMB1

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 LAMB1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4789187107564262:107564532:107564674:107564834:107566627:107566804107564674:107564834ENSG00000091136.9ENST00000472714.1,ENST00000393561.1,ENST00000222399.6
exon_skip_4789217107569508:107569650:107569856:107570064:107571800:107571945107569856:107570064ENSG00000091136.9ENST00000393561.1,ENST00000222399.6
exon_skip_4789237107571801:107571945:107572618:107572822:107575859:107576101107572618:107572822ENSG00000091136.9ENST00000393561.1,ENST00000222399.6
exon_skip_4789267107571801:107571945:107572618:107572938:107575859:107576101107572618:107572938ENSG00000091136.9ENST00000474380.1
exon_skip_4789277107575859:107576101:107576723:107576818:107577537:107577604107576723:107576818ENSG00000091136.9ENST00000470995.1
exon_skip_4789307107577537:107577722:107580433:107580803:107591670:107591767107580433:107580803ENSG00000091136.9ENST00000393561.1,ENST00000222399.6
exon_skip_4789367107591670:107591767:107592453:107592668:107593974:107594094107592453:107592668ENSG00000091136.9ENST00000476039.1,ENST00000393561.1,ENST00000222399.6
exon_skip_4789377107592453:107592668:107593974:107594199:107595911:107596075107593974:107594199ENSG00000091136.9ENST00000393561.1,ENST00000222399.6
exon_skip_4789387107595911:107596075:107599693:107599925:107600135:107600279107599693:107599925ENSG00000091136.9ENST00000393561.1,ENST00000222399.6
exon_skip_4789397107599693:107599925:107600135:107600279:107600889:107601094107600135:107600279ENSG00000091136.9ENST00000393561.1,ENST00000222399.6
exon_skip_4789407107601993:107602121:107603349:107603508:107604996:107605132107603349:107603508ENSG00000091136.9ENST00000393561.1,ENST00000393560.1,ENST00000222399.6
exon_skip_4789427107604996:107605132:107613436:107613516:107615430:107615543107613436:107613516ENSG00000091136.9ENST00000393561.1,ENST00000393560.1,ENST00000222399.6
exon_skip_4789437107615678:107615858:107616133:107616322:107618491:107618612107616133:107616322ENSG00000091136.9ENST00000393561.1,ENST00000393560.1,ENST00000222399.6
exon_skip_4789447107618491:107618612:107621053:107621256:107626466:107626530107621053:107621256ENSG00000091136.9ENST00000393561.1,ENST00000393560.1,ENST00000222399.6
exon_skip_4789467107626466:107626530:107626619:107626808:107635331:107635405107626619:107626808ENSG00000091136.9ENST00000393561.1,ENST00000393560.1,ENST00000222399.6
exon_skip_4789477107635331:107635405:107638801:107638937:107642002:107642178107638801:107638937ENSG00000091136.9ENST00000393561.1,ENST00000393560.1,ENST00000222399.6
exon_skip_4789497107642002:107642178:107642571:107642829:107643293:107643412107642571:107642829ENSG00000091136.9ENST00000439976.1

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

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Exon skipping events with PSIs in GTEx for LAMB1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4789187107564262:107564532:107564674:107564834:107566627:107566804107564674:107564834ENSG00000091136.9ENST00000472714.1,ENST00000393561.1,ENST00000222399.6
exon_skip_4789217107569508:107569650:107569856:107570064:107571800:107571945107569856:107570064ENSG00000091136.9ENST00000393561.1,ENST00000222399.6
exon_skip_4789237107571801:107571945:107572618:107572822:107575859:107576101107572618:107572822ENSG00000091136.9ENST00000393561.1,ENST00000222399.6
exon_skip_4789267107571801:107571945:107572618:107572938:107575859:107576101107572618:107572938ENSG00000091136.9ENST00000474380.1
exon_skip_4789277107575859:107576101:107576723:107576818:107577537:107577604107576723:107576818ENSG00000091136.9ENST00000470995.1
exon_skip_4789307107577537:107577722:107580433:107580803:107591670:107591767107580433:107580803ENSG00000091136.9ENST00000393561.1,ENST00000222399.6
exon_skip_4789367107591670:107591767:107592453:107592668:107593974:107594094107592453:107592668ENSG00000091136.9ENST00000393561.1,ENST00000222399.6,ENST00000476039.1
exon_skip_4789377107592453:107592668:107593974:107594199:107595911:107596075107593974:107594199ENSG00000091136.9ENST00000393561.1,ENST00000222399.6
exon_skip_4789387107595911:107596075:107599693:107599925:107600135:107600279107599693:107599925ENSG00000091136.9ENST00000393561.1,ENST00000222399.6
exon_skip_4789397107599693:107599925:107600135:107600279:107600889:107601094107600135:107600279ENSG00000091136.9ENST00000393561.1,ENST00000222399.6
exon_skip_4789407107601993:107602121:107603349:107603508:107604996:107605132107603349:107603508ENSG00000091136.9ENST00000393561.1,ENST00000222399.6,ENST00000393560.1
exon_skip_4789427107604996:107605132:107613436:107613516:107615430:107615543107613436:107613516ENSG00000091136.9ENST00000393561.1,ENST00000222399.6,ENST00000393560.1
exon_skip_4789437107615678:107615858:107616133:107616322:107618491:107618612107616133:107616322ENSG00000091136.9ENST00000393561.1,ENST00000222399.6,ENST00000393560.1
exon_skip_4789447107618491:107618612:107621053:107621256:107626466:107626530107621053:107621256ENSG00000091136.9ENST00000393561.1,ENST00000222399.6,ENST00000393560.1
exon_skip_4789467107626466:107626530:107626619:107626808:107635331:107635405107626619:107626808ENSG00000091136.9ENST00000393561.1,ENST00000222399.6,ENST00000393560.1
exon_skip_4789477107635331:107635405:107638801:107638937:107642002:107642178107638801:107638937ENSG00000091136.9ENST00000393561.1,ENST00000222399.6,ENST00000393560.1
exon_skip_4789497107642002:107642178:107642571:107642829:107643293:107643412107642571:107642829ENSG00000091136.9ENST00000439976.1

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 LAMB1

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
ENST00000222399107564674107564834Frame-shift
ENST00000222399107569856107570064Frame-shift
ENST00000222399107580433107580803Frame-shift
ENST00000222399107592453107592668Frame-shift
ENST00000222399107599693107599925Frame-shift
ENST00000222399107613436107613516Frame-shift
ENST00000222399107621053107621256Frame-shift
ENST00000222399107638801107638937Frame-shift
ENST00000222399107572618107572822In-frame
ENST00000222399107593974107594199In-frame
ENST00000222399107600135107600279In-frame
ENST00000222399107603349107603508In-frame
ENST00000222399107616133107616322In-frame
ENST00000222399107626619107626808In-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
ENST00000222399107564674107564834Frame-shift
ENST00000222399107569856107570064Frame-shift
ENST00000222399107580433107580803Frame-shift
ENST00000222399107592453107592668Frame-shift
ENST00000222399107599693107599925Frame-shift
ENST00000222399107613436107613516Frame-shift
ENST00000222399107621053107621256Frame-shift
ENST00000222399107638801107638937Frame-shift
ENST00000222399107572618107572822In-frame
ENST00000222399107593974107594199In-frame
ENST00000222399107600135107600279In-frame
ENST00000222399107603349107603508In-frame
ENST00000222399107616133107616322In-frame
ENST00000222399107626619107626808In-frame

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Infer the effects of exon skipping event on protein functional features for LAMB1

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
ENST0000022239957421786107626619107626808655843141204
ENST000002223995742178610761613310761632212321420333396
ENST000002223995742178610760334910760350819302088566619
ENST000002223995742178610760013510760027925462689771819
ENST0000022239957421786107593974107594199308633109511026
ENST00000222399574217861075726181075728224420462313961464

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
ENST0000022239957421786107626619107626808655843141204
ENST000002223995742178610761613310761632212321420333396
ENST000002223995742178610760334910760350819302088566619
ENST000002223995742178610760013510760027925462689771819
ENST0000022239957421786107593974107594199308633109511026
ENST00000222399574217861075726181075728224420462313961464

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
P07942141204221786ChainID=PRO_0000017065;Note=Laminin subunit beta-1
P0794214120431270DomainNote=Laminin N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00466
P07942333396221786ChainID=PRO_0000017065;Note=Laminin subunit beta-1
P07942333396335344Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942333396337362Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942333396365374Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942333396377395Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942333396271334DomainNote=Laminin EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942333396335397DomainNote=Laminin EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942333396356356GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P07942333396379379Natural variantID=VAR_061349;Note=P->S;Dbxref=dbSNP:rs28750165
P07942566619221786ChainID=PRO_0000017065;Note=Laminin subunit beta-1
P07942566619549767DomainNote=Laminin IV type B;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00462
P07942771819221786ChainID=PRO_0000017065;Note=Laminin subunit beta-1
P07942771819773785Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942771819775792Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942771819794803Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942771819806818Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942771819773820DomainNote=Laminin EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P079429511026221786ChainID=PRO_0000017065;Note=Laminin subunit beta-1
P079429511026946955Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P079429511026958973Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P079429511026976990Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P079429511026978997Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942951102610001009Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942951102610121025Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P079429511026917975DomainNote=Laminin EGF-like 9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P0794295110269761027DomainNote=Laminin EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942951102610221022Natural variantID=VAR_014699;Note=Q->R;Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PubMed:21269460,ECO:0000269|PubMed:1975589,ECO:0000269|PubMed:3611077;Dbxref=dbSNP:rs20556,PMID:21269460,PMID:1975589,PMID:3611077
P0794213961464221786ChainID=PRO_0000017065;Note=Laminin subunit beta-1
P079421396146414421781Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P079421396146411791397RegionNote=Domain II
P079421396146413981430RegionNote=Domain alpha
P079421396146414311786RegionNote=Domain I


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
P07942141204221786ChainID=PRO_0000017065;Note=Laminin subunit beta-1
P0794214120431270DomainNote=Laminin N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00466
P07942333396221786ChainID=PRO_0000017065;Note=Laminin subunit beta-1
P07942333396335344Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942333396337362Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942333396365374Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942333396377395Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942333396271334DomainNote=Laminin EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942333396335397DomainNote=Laminin EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942333396356356GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P07942333396379379Natural variantID=VAR_061349;Note=P->S;Dbxref=dbSNP:rs28750165
P07942566619221786ChainID=PRO_0000017065;Note=Laminin subunit beta-1
P07942566619549767DomainNote=Laminin IV type B;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00462
P07942771819221786ChainID=PRO_0000017065;Note=Laminin subunit beta-1
P07942771819773785Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942771819775792Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942771819794803Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942771819806818Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942771819773820DomainNote=Laminin EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P079429511026221786ChainID=PRO_0000017065;Note=Laminin subunit beta-1
P079429511026946955Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P079429511026958973Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P079429511026976990Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P079429511026978997Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942951102610001009Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942951102610121025Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P079429511026917975DomainNote=Laminin EGF-like 9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P0794295110269761027DomainNote=Laminin EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00460
P07942951102610221022Natural variantID=VAR_014699;Note=Q->R;Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PubMed:21269460,ECO:0000269|PubMed:1975589,ECO:0000269|PubMed:3611077;Dbxref=dbSNP:rs20556,PMID:21269460,PMID:1975589,PMID:3611077
P0794213961464221786ChainID=PRO_0000017065;Note=Laminin subunit beta-1
P079421396146414421781Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P079421396146411791397RegionNote=Domain II
P079421396146413981430RegionNote=Domain alpha
P079421396146414311786RegionNote=Domain I


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SNVs in the skipped exons for LAMB1

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.
LAMB1_KIRP_exon_skip_478936_psi_boxplot.png
boxplot
LAMB1_LIHC_exon_skip_478923_psi_boxplot.png
boxplot
LAMB1_LIHC_exon_skip_478936_psi_boxplot.png
boxplot
LAMB1_SKCM_exon_skip_478944_psi_boxplot.png
boxplot
LAMB1_STAD_exon_skip_478923_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_478918
107564675107564834107564710107564710Frame_Shift_DelA-p.L1754fs
LIHCTCGA-DD-A1EG-01exon_skip_478918
107564675107564834107564717107564717Frame_Shift_DelT-p.T1752fs
LIHCTCGA-DD-A39Y-01exon_skip_478918
107564675107564834107564717107564717Frame_Shift_DelT-p.T1752fs
LIHCTCGA-G3-A3CJ-01exon_skip_478918
107564675107564834107564717107564717Frame_Shift_DelT-p.T1728fs
LIHCTCGA-G3-A3CJ-01exon_skip_478918
107564675107564834107564717107564717Frame_Shift_DelT-p.T1752fs
COADTCGA-AA-3713-01exon_skip_478918
107564675107564834107564774107564774Frame_Shift_DelT-p.T1709fs
STADTCGA-CG-4305-01exon_skip_478918
107564675107564834107564774107564774Frame_Shift_DelT-p.T1709fs
STADTCGA-CG-4305-01exon_skip_478918
107564675107564834107564774107564774Frame_Shift_DelT-p.T1733fs
LIHCTCGA-DD-A1EG-01exon_skip_478918
107564675107564834107564799107564799Frame_Shift_DelT-p.K1724fs
LIHCTCGA-DD-A3A0-01exon_skip_478921
107569857107570064107570016107570016Frame_Shift_DelA-p.L1553fs
LIHCTCGA-DD-A39Y-01exon_skip_478923
107572619107572822107572682107572682Frame_Shift_DelT-p.K1467fs
LIHCTCGA-DD-A39Y-01exon_skip_478926
107572619107572938107572682107572682Frame_Shift_DelT-p.K1467fs
STADTCGA-BR-6566-01exon_skip_478923
107572619107572822107572748107572751Frame_Shift_DelTCCT-p.1421_1422del
STADTCGA-BR-6566-01exon_skip_478926
107572619107572938107572748107572751Frame_Shift_DelTCCT-p.1421_1422del
LIHCTCGA-DD-A39Y-01exon_skip_478930
107580434107580803107580681107580681Frame_Shift_DelC-p.V1196fs
LIHCTCGA-G3-A3CJ-01exon_skip_478930
107580434107580803107580681107580681Frame_Shift_DelC-p.V1196fs
LIHCTCGA-G3-A3CJ-01exon_skip_478930
107580434107580803107580749107580749Frame_Shift_DelC-p.G1173fs
LIHCTCGA-G3-A3CJ-01exon_skip_478930
107580434107580803107580787107580787Frame_Shift_DelG-p.P1160fs
KIRPTCGA-PJ-A5Z8-01exon_skip_478936
107592454107592668107592551107592555Frame_Shift_DelTCACA-p.1065_1066del
KIRPTCGA-PJ-A5Z8-01exon_skip_478936
107592454107592668107592551107592555Frame_Shift_DelTCACA-p.C1089fs
LIHCTCGA-DD-A39Y-01exon_skip_478936
107592454107592668107592647107592647Frame_Shift_DelC-p.G1058fs
LIHCTCGA-DD-A39Y-01exon_skip_478937
107593975107594199107594141107594141Frame_Shift_DelC-p.G995fs
LIHCTCGA-G3-A3CJ-01exon_skip_478937
107593975107594199107594141107594141Frame_Shift_DelC-p.G995fs
STADTCGA-CG-5730-01exon_skip_478937
107593975107594199107594141107594141Frame_Shift_DelC-p.S972fs
STADTCGA-CG-5730-01exon_skip_478937
107593975107594199107594141107594141Frame_Shift_DelC-p.S996fs
LIHCTCGA-DD-AADI-01exon_skip_478940
107603350107603508107603404107603404Frame_Shift_DelA-p.D602fs
LIHCTCGA-G3-A3CJ-01exon_skip_478940
107603350107603508107603470107603470Frame_Shift_DelC-p.R603fs
LIHCTCGA-DD-A1EG-01exon_skip_478944
107621054107621256107621163107621163Frame_Shift_DelT-p.K281fs
LIHCTCGA-DD-A39Y-01exon_skip_478946
107626620107626808107626680107626680Frame_Shift_DelT-p.K208fs
LIHCTCGA-DD-A3A0-01exon_skip_478946
107626620107626808107626764107626764Frame_Shift_DelA-p.F180fs
LIHCTCGA-DD-A3A0-01exon_skip_478947
107638802107638937107638858107638858Frame_Shift_DelT-p.N122fs
LIHCTCGA-DD-A39Y-01exon_skip_478947
107638802107638937107638926107638926Frame_Shift_DelT-p.K99fs
LIHCTCGA-G3-A3CJ-01exon_skip_478947
107638802107638937107638926107638926Frame_Shift_DelT-p.K99fs
STADTCGA-CG-4442-01exon_skip_478947
107638802107638937107638926107638926Frame_Shift_DelT-p.C100fs
STADTCGA-CG-4442-01exon_skip_478947
107638802107638937107638926107638926Frame_Shift_DelT-p.C76fs
STADTCGA-MX-A5UJ-01exon_skip_478947
107638802107638937107638926107638926Frame_Shift_DelT-p.C76fs
STADTCGA-MX-A5UJ-01exon_skip_478947
107638802107638937107638926107638926Frame_Shift_DelT-p.K99fs
LIHCTCGA-BC-A10T-01exon_skip_478923
107572619107572822107572771107572772Frame_Shift_Ins-Cp.K1438fs
LIHCTCGA-BC-A10T-01exon_skip_478926
107572619107572938107572771107572772Frame_Shift_Ins-Cp.K1438fs
STADTCGA-BR-8078-01exon_skip_478937
107593975107594199107594140107594141Frame_Shift_Ins-Cp.S972fs
STADTCGA-BR-8078-01exon_skip_478937
107593975107594199107594141107594142Frame_Shift_Ins-Cp.G995fs
HNSCTCGA-HD-8635-01exon_skip_478940
107603350107603508107603497107603498Frame_Shift_Ins-Ap.S594fs
BRCATCGA-E2-A159-01exon_skip_478937
107593975107594199107594139107594139Nonsense_MutationGTp.S972*
BLCATCGA-XF-AAN5-01exon_skip_478937
107593975107594199107594154107594154Nonsense_MutationGTp.S991*
UCECTCGA-AP-A051-01exon_skip_478944
107621054107621256107621120107621120Nonsense_MutationGTp.C271*
SKCMTCGA-YG-AA3O-06exon_skip_478944
107621054107621256107621131107621131Nonsense_MutationGAp.R292*
LUSCTCGA-60-2708-01exon_skip_478944
107621054107621256107621203107621203Nonsense_MutationCAp.G268*
HNSCTCGA-CV-A45Q-01exon_skip_478946
107626620107626808107626633107626633Nonsense_MutationGCp.S224*
LUSCTCGA-21-1076-01exon_skip_478939
107600136107600279107600135107600135Splice_SiteCTp.P844_splice
PAADTCGA-IB-7651-01exon_skip_478943
107616134107616322107616323107616323Splice_SiteCA.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
LAMB1_107618491_107618612_107621053_107621256_107626466_107626530_TCGA-YG-AA3O-06Sample: TCGA-YG-AA3O-06
Cancer type: SKCM
ESID: exon_skip_478944
Skipped exon start: 107621054
Skipped exon end: 107621256
Mutation start: 107621131
Mutation end: 107621131
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R292*
exon_skip_478944_SKCM_TCGA-YG-AA3O-06.png
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LAMB1_107591670_107591767_107592453_107592668_107593974_107594094_TCGA-PJ-A5Z8-01Sample: TCGA-PJ-A5Z8-01
Cancer type: KIRP
ESID: exon_skip_478936
Skipped exon start: 107592454
Skipped exon end: 107592668
Mutation start: 107592551
Mutation end: 107592555
Mutation type: Frame_Shift_Del
Reference seq: TCACA
Mutation seq: -
AAchange: p.1065_1066del
LAMB1_107591670_107591767_107592453_107592668_107593974_107594094_TCGA-PJ-A5Z8-01Sample: TCGA-PJ-A5Z8-01
Cancer type: KIRP
ESID: exon_skip_478936
Skipped exon start: 107592454
Skipped exon end: 107592668
Mutation start: 107592551
Mutation end: 107592555
Mutation type: Frame_Shift_Del
Reference seq: TCACA
Mutation seq: -
AAchange: p.C1089fs
exon_skip_478936_KIRP_TCGA-PJ-A5Z8-01.png
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LAMB1_107591670_107591767_107592453_107592668_107593974_107594094_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478918
Skipped exon start: 107564675
Skipped exon end: 107564834
Mutation start: 107564717
Mutation end: 107564717
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.T1752fs
LAMB1_107591670_107591767_107592453_107592668_107593974_107594094_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478923
Skipped exon start: 107572619
Skipped exon end: 107572822
Mutation start: 107572682
Mutation end: 107572682
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K1467fs
LAMB1_107591670_107591767_107592453_107592668_107593974_107594094_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478926
Skipped exon start: 107572619
Skipped exon end: 107572938
Mutation start: 107572682
Mutation end: 107572682
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K1467fs
LAMB1_107591670_107591767_107592453_107592668_107593974_107594094_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478930
Skipped exon start: 107580434
Skipped exon end: 107580803
Mutation start: 107580681
Mutation end: 107580681
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.V1196fs
LAMB1_107591670_107591767_107592453_107592668_107593974_107594094_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478936
Skipped exon start: 107592454
Skipped exon end: 107592668
Mutation start: 107592647
Mutation end: 107592647
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G1058fs
LAMB1_107591670_107591767_107592453_107592668_107593974_107594094_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478937
Skipped exon start: 107593975
Skipped exon end: 107594199
Mutation start: 107594141
Mutation end: 107594141
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G995fs
LAMB1_107591670_107591767_107592453_107592668_107593974_107594094_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478946
Skipped exon start: 107626620
Skipped exon end: 107626808
Mutation start: 107626680
Mutation end: 107626680
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K208fs
LAMB1_107591670_107591767_107592453_107592668_107593974_107594094_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478947
Skipped exon start: 107638802
Skipped exon end: 107638937
Mutation start: 107638926
Mutation end: 107638926
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K99fs
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png
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LAMB1_107571801_107571945_107572618_107572938_107575859_107576101_TCGA-BC-A10T-01Sample: TCGA-BC-A10T-01
Cancer type: LIHC
ESID: exon_skip_478923
Skipped exon start: 107572619
Skipped exon end: 107572822
Mutation start: 107572771
Mutation end: 107572772
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: C
AAchange: p.K1438fs
LAMB1_107571801_107571945_107572618_107572938_107575859_107576101_TCGA-BC-A10T-01Sample: TCGA-BC-A10T-01
Cancer type: LIHC
ESID: exon_skip_478926
Skipped exon start: 107572619
Skipped exon end: 107572938
Mutation start: 107572771
Mutation end: 107572772
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: C
AAchange: p.K1438fs
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LAMB1_107571801_107571945_107572618_107572938_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478918
Skipped exon start: 107564675
Skipped exon end: 107564834
Mutation start: 107564717
Mutation end: 107564717
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.T1752fs
LAMB1_107571801_107571945_107572618_107572938_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478923
Skipped exon start: 107572619
Skipped exon end: 107572822
Mutation start: 107572682
Mutation end: 107572682
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K1467fs
LAMB1_107571801_107571945_107572618_107572938_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478926
Skipped exon start: 107572619
Skipped exon end: 107572938
Mutation start: 107572682
Mutation end: 107572682
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K1467fs
LAMB1_107571801_107571945_107572618_107572938_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478930
Skipped exon start: 107580434
Skipped exon end: 107580803
Mutation start: 107580681
Mutation end: 107580681
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.V1196fs
LAMB1_107571801_107571945_107572618_107572938_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478936
Skipped exon start: 107592454
Skipped exon end: 107592668
Mutation start: 107592647
Mutation end: 107592647
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G1058fs
LAMB1_107571801_107571945_107572618_107572938_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478937
Skipped exon start: 107593975
Skipped exon end: 107594199
Mutation start: 107594141
Mutation end: 107594141
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G995fs
LAMB1_107571801_107571945_107572618_107572938_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478946
Skipped exon start: 107626620
Skipped exon end: 107626808
Mutation start: 107626680
Mutation end: 107626680
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K208fs
LAMB1_107571801_107571945_107572618_107572938_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478947
Skipped exon start: 107638802
Skipped exon end: 107638937
Mutation start: 107638926
Mutation end: 107638926
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K99fs
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LAMB1_107571801_107571945_107572618_107572938_107575859_107576101_TCGA-BR-6566-01Sample: TCGA-BR-6566-01
Cancer type: STAD
ESID: exon_skip_478923
Skipped exon start: 107572619
Skipped exon end: 107572822
Mutation start: 107572748
Mutation end: 107572751
Mutation type: Frame_Shift_Del
Reference seq: TCCT
Mutation seq: -
AAchange: p.1421_1422del
LAMB1_107571801_107571945_107572618_107572938_107575859_107576101_TCGA-BR-6566-01Sample: TCGA-BR-6566-01
Cancer type: STAD
ESID: exon_skip_478926
Skipped exon start: 107572619
Skipped exon end: 107572938
Mutation start: 107572748
Mutation end: 107572751
Mutation type: Frame_Shift_Del
Reference seq: TCCT
Mutation seq: -
AAchange: p.1421_1422del
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LAMB1_107571801_107571945_107572618_107572822_107575859_107576101_TCGA-BC-A10T-01Sample: TCGA-BC-A10T-01
Cancer type: LIHC
ESID: exon_skip_478923
Skipped exon start: 107572619
Skipped exon end: 107572822
Mutation start: 107572771
Mutation end: 107572772
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: C
AAchange: p.K1438fs
LAMB1_107571801_107571945_107572618_107572822_107575859_107576101_TCGA-BC-A10T-01Sample: TCGA-BC-A10T-01
Cancer type: LIHC
ESID: exon_skip_478926
Skipped exon start: 107572619
Skipped exon end: 107572938
Mutation start: 107572771
Mutation end: 107572772
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: C
AAchange: p.K1438fs
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LAMB1_107571801_107571945_107572618_107572822_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478918
Skipped exon start: 107564675
Skipped exon end: 107564834
Mutation start: 107564717
Mutation end: 107564717
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.T1752fs
LAMB1_107571801_107571945_107572618_107572822_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478923
Skipped exon start: 107572619
Skipped exon end: 107572822
Mutation start: 107572682
Mutation end: 107572682
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K1467fs
LAMB1_107571801_107571945_107572618_107572822_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478926
Skipped exon start: 107572619
Skipped exon end: 107572938
Mutation start: 107572682
Mutation end: 107572682
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K1467fs
LAMB1_107571801_107571945_107572618_107572822_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478930
Skipped exon start: 107580434
Skipped exon end: 107580803
Mutation start: 107580681
Mutation end: 107580681
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.V1196fs
LAMB1_107571801_107571945_107572618_107572822_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478936
Skipped exon start: 107592454
Skipped exon end: 107592668
Mutation start: 107592647
Mutation end: 107592647
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G1058fs
LAMB1_107571801_107571945_107572618_107572822_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478937
Skipped exon start: 107593975
Skipped exon end: 107594199
Mutation start: 107594141
Mutation end: 107594141
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.G995fs
LAMB1_107571801_107571945_107572618_107572822_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478946
Skipped exon start: 107626620
Skipped exon end: 107626808
Mutation start: 107626680
Mutation end: 107626680
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K208fs
LAMB1_107571801_107571945_107572618_107572822_107575859_107576101_TCGA-DD-A39Y-01Sample: TCGA-DD-A39Y-01
Cancer type: LIHC
ESID: exon_skip_478947
Skipped exon start: 107638802
Skipped exon end: 107638937
Mutation start: 107638926
Mutation end: 107638926
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.K99fs
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LAMB1_107571801_107571945_107572618_107572822_107575859_107576101_TCGA-BR-6566-01Sample: TCGA-BR-6566-01
Cancer type: STAD
ESID: exon_skip_478923
Skipped exon start: 107572619
Skipped exon end: 107572822
Mutation start: 107572748
Mutation end: 107572751
Mutation type: Frame_Shift_Del
Reference seq: TCCT
Mutation seq: -
AAchange: p.1421_1422del
LAMB1_107571801_107571945_107572618_107572822_107575859_107576101_TCGA-BR-6566-01Sample: TCGA-BR-6566-01
Cancer type: STAD
ESID: exon_skip_478926
Skipped exon start: 107572619
Skipped exon end: 107572938
Mutation start: 107572748
Mutation end: 107572751
Mutation type: Frame_Shift_Del
Reference seq: TCCT
Mutation seq: -
AAchange: p.1421_1422del
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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
CCK81_LARGE_INTESTINE107564675107564834107564717107564717Frame_Shift_DelT-p.T1728fs
DOV13_OVARY107564675107564834107564774107564774Frame_Shift_DelT-p.T1709fs
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107564675107564834107564774107564774Frame_Shift_DelT-p.T1709fs
HEC6_ENDOMETRIUM107564675107564834107564774107564774Frame_Shift_DelT-p.T1709fs
NCIH1703_LUNG107638802107638937107638925107638926Frame_Shift_Ins-Tp.C76fs
LB771HNC_UPPER_AERODIGESTIVE_TRACT107564675107564834107564730107564730Missense_MutationTAp.Q1723H
SCC25_UPPER_AERODIGESTIVE_TRACT107569857107570064107569876107569876Missense_MutationCTp.E1576K
HEC265_ENDOMETRIUM107569857107570064107569928107569928Missense_MutationCAp.E1558D
OSC19_UPPER_AERODIGESTIVE_TRACT107569857107570064107570022107570022Missense_MutationTGp.E1527A
YD8_UPPER_AERODIGESTIVE_TRACT107572619107572822107572639107572639Missense_MutationCTp.V1458M
YD8_UPPER_AERODIGESTIVE_TRACT107572619107572938107572639107572639Missense_MutationCTp.V1458M
SISO_CERVIX107580434107580803107580480107580480Missense_MutationCTp.A1239T
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107580434107580803107580480107580480Missense_MutationCTp.A1239T
ECC12_STOMACH107580434107580803107580511107580511Missense_MutationGTp.S1228R
NUGC2_STOMACH107580434107580803107580572107580572Missense_MutationTCp.K1208R
SKN3_UPPER_AERODIGESTIVE_TRACT107580434107580803107580572107580572Missense_MutationTCp.K1208R
LC2AD_LUNG107580434107580803107580572107580572Missense_MutationTCp.K1208R
SNUC4_LARGE_INTESTINE107580434107580803107580623107580623Missense_MutationGAp.A1191V
L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107580434107580803107580672107580672Missense_MutationCGp.D1175H
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107580434107580803107580713107580713Missense_MutationCTp.R1161H
SW48_LARGE_INTESTINE107580434107580803107580797107580797Missense_MutationTCp.D1133G
CAL12T_LUNG107592454107592668107592542107592542Missense_MutationGAp.A1069V
HEC50B_ENDOMETRIUM107593975107594199107593977107593977Missense_MutationCTp.R1026Q
JHUEM7_ENDOMETRIUM107593975107594199107594047107594047Missense_MutationGAp.H1003Y
SW1271_LUNG107593975107594199107594112107594112Missense_MutationTAp.N981I
NCIH23_LUNG107599694107599925107599751107599751Missense_MutationGAp.P878L
LU165_LUNG107599694107599925107599851107599851Missense_MutationCTp.G845R
SKNSH_AUTONOMIC_GANGLIA107600136107600279107600231107600231Missense_MutationTCp.N788S
SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107600136107600279107600244107600244Missense_MutationCTp.V784M
HEC6_ENDOMETRIUM107600136107600279107600244107600244Missense_MutationCTp.V784M
VAESBJ_SOFT_TISSUE107603350107603508107603366107603366Missense_MutationAGp.I614T
SKUT1_SOFT_TISSUE107603350107603508107603490107603490Missense_MutationGAp.R573W
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107613437107613516107613476107613476Missense_MutationCAp.R508L
NCIH441_LUNG107616134107616322107616140107616140Missense_MutationAGp.C395R
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107616134107616322107616182107616182Missense_MutationAGp.Y381H
PEO1_OVARY107616134107616322107616187107616187Missense_MutationGAp.P379L
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107616134107616322107616247107616247Missense_MutationCTp.G359E
BICR18_UPPER_AERODIGESTIVE_TRACT107616134107616322107616298107616298Missense_MutationACp.I342S
BICR18_UPPER_AERODIGESTIVE_TRACT107621054107621256107621077107621077Missense_MutationACp.F286V
HCC827GR5_LUNG107621054107621256107621168107621168Missense_MutationTGp.R255S
NCIH2135_LUNG107626620107626808107626654107626654Missense_MutationCGp.R193P
NCIH378_LUNG107626620107626808107626738107626738Missense_MutationTAp.Y165F
HCC2450_LUNG107626620107626808107626777107626777Missense_MutationCTp.R152Q
BT549_BREAST107638802107638937107638804107638804Missense_MutationTGp.N116T
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107638802107638937107638895107638895Missense_MutationGTp.H86N
KNS60_CENTRAL_NERVOUS_SYSTEM107638802107638937107638895107638895Missense_MutationGTp.H86N
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107580434107580803107580696107580696Nonsense_MutationGAp.R1167*
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107626620107626808107626778107626778Nonsense_MutationGAp.R152*
HCT15_LARGE_INTESTINE107592454107592668107592668107592668Splice_SiteTGp.K1027T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LAMB1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_4789407107601993:107602121:107603349:107603508:107604996:107605132107603349:107603508ENST00000393561.1,ENST00000393560.1,ENST00000222399.6THCArs2230156chr7:107603431G/T2.06e-03
exon_skip_4789407107601993:107602121:107603349:107603508:107604996:107605132107603349:107603508ENST00000393561.1,ENST00000393560.1,ENST00000222399.6THCArs2230156chr7:107603431G/T2.07e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LAMB1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LAMB1


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RelatedDrugs for LAMB1

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 LAMB1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
LAMB1C0004352Autistic Disorder1CTD_human
LAMB1C0009324Ulcerative Colitis1CTD_human
LAMB1C0009363Congenital ocular coloboma (disorder)1CTD_human
LAMB1C0014175Endometriosis1CTD_human