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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 LYAR

check button Gene summary
Gene informationGene symbol

LYAR

Gene ID

55646

Gene nameLy1 antibody reactive
SynonymsZC2HC2|ZLYAR
Cytomap

4p16.3

Type of geneprotein-coding
Descriptioncell growth-regulating nucleolar proteinLy1 antibody reactive homolog
Modification date20180519
UniProtAcc

Q9NX58

ContextPubMed: LYAR [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 LYAR 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 LYAR

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 LYAR

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_42823144269430:4269750:4270256:4270342:4275309:42753964270256:4270342ENSG00000145220.9ENST00000343470.4,ENST00000452476.1
exon_skip_42823344270256:4270342:4275309:4275396:4276093:42764964275309:4275396ENSG00000145220.9ENST00000343470.4,ENST00000452476.1
exon_skip_42823644281173:4281257:4281368:4281476:4283509:42836244281368:4281476ENSG00000145220.9ENST00000343470.4,ENST00000452476.1
exon_skip_42823944285347:4285522:4288245:4288299:4291762:42918964288245:4288299ENSG00000145220.9ENST00000343470.4

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

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Exon skipping events with PSIs in GTEx for LYAR

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_42823144269430:4269750:4270256:4270342:4275309:42753964270256:4270342ENSG00000145220.9ENST00000343470.4,ENST00000452476.1
exon_skip_42823344270256:4270342:4275309:4275396:4276093:42764964275309:4275396ENSG00000145220.9ENST00000343470.4,ENST00000452476.1
exon_skip_42823644281173:4281257:4281368:4281476:4283509:42836244281368:4281476ENSG00000145220.9ENST00000343470.4,ENST00000452476.1
exon_skip_42823944285347:4285522:4288245:4288299:4291762:42918964288245:4288299ENSG00000145220.9ENST00000343470.4

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 LYAR

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
ENST00000343470428824542882993UTR-3UTR
ENST0000034347042702564270342Frame-shift
ENST0000045247642702564270342Frame-shift
ENST0000034347042753094275396In-frame
ENST0000045247642753094275396In-frame
ENST0000034347042813684281476In-frame
ENST0000045247642813684281476In-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
ENST00000343470428824542882993UTR-3UTR
ENST0000034347042702564270342Frame-shift
ENST0000045247642702564270342Frame-shift
ENST0000034347042753094275396In-frame
ENST0000045247642753094275396In-frame
ENST0000034347042813684281476In-frame
ENST0000045247642813684281476In-frame

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

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
ENST0000034347015863794281368428147647958679115
ENST0000045247614853794281368428147638148879115
ENST0000034347015863794275309427539610741160277306
ENST000004524761485379427530942753969761062277306

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
ENST0000034347015863794281368428147647958679115
ENST0000045247614853794281368428147638148879115
ENST0000034347015863794275309427539610741160277306
ENST000004524761485379427530942753969761062277306

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
Q9NX58791151379ChainID=PRO_0000084528;Note=Cell growth-regulating nucleolar protein
Q9NX58791151379ChainID=PRO_0000084528;Note=Cell growth-regulating nucleolar protein
Q9NX582773061379ChainID=PRO_0000084528;Note=Cell growth-regulating nucleolar protein
Q9NX582773061379ChainID=PRO_0000084528;Note=Cell growth-regulating nucleolar protein
Q9NX58277306168379Compositional biasNote=Lys-rich
Q9NX58277306168379Compositional biasNote=Lys-rich


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
Q9NX58791151379ChainID=PRO_0000084528;Note=Cell growth-regulating nucleolar protein
Q9NX58791151379ChainID=PRO_0000084528;Note=Cell growth-regulating nucleolar protein
Q9NX582773061379ChainID=PRO_0000084528;Note=Cell growth-regulating nucleolar protein
Q9NX582773061379ChainID=PRO_0000084528;Note=Cell growth-regulating nucleolar protein
Q9NX58277306168379Compositional biasNote=Lys-rich
Q9NX58277306168379Compositional biasNote=Lys-rich


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SNVs in the skipped exons for LYAR

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.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HNSCTCGA-CV-6441-01exon_skip_428231
4270257427034242702874270287Frame_Shift_DelA-p.N325fs
LIHCTCGA-G3-A3CJ-01exon_skip_428231
4270257427034242702944270294Frame_Shift_DelG-p.P323fs
COADTCGA-CM-5861-01exon_skip_428233
4275310427539642753724275372Frame_Shift_DelT-p.K286fs
LIHCTCGA-DD-A39Y-01exon_skip_428236
4281369428147642814384281438Frame_Shift_DelG-p.P92fs
STADTCGA-BR-4368-01exon_skip_428231
4270257427034242702694270270Frame_Shift_Ins-Tp.K331fs
STADTCGA-BR-4368-01exon_skip_428231
4270257427034242702704270271Frame_Shift_Ins-Tp.K331fs
LIHCTCGA-BC-A112-01exon_skip_428236
4281369428147642814724281473Frame_Shift_Ins-Tp.*81fs
KIRPTCGA-KV-A74V-01exon_skip_428231
4270257427034242702714270271Nonsense_MutationTAp.K331X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NCIH2110_LUNG4281369428147642814494281449Missense_MutationTAp.N89Y
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE4281369428147642814704281470Missense_MutationTCp.S82G
MM370_SKIN4270257427034242703044270304Nonsense_MutationTAp.K320*

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

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 LYAR


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


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RelatedDrugs for LYAR

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 LYAR

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