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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 MAPRE2

check button Gene summary
Gene informationGene symbol

MAPRE2

Gene ID

10982

Gene namemicrotubule associated protein RP/EB family member 2
SynonymsCSCSC2|EB1|EB2|RP1
Cytomap

18q12.1-q12.2

Type of geneprotein-coding
Descriptionmicrotubule-associated protein RP/EB family member 2APC-binding protein EB1APC-binding protein EB2T-cell activation protein, EB1 familyend-binding protein 2
Modification date20180523
UniProtAcc

Q15555

ContextPubMed: MAPRE2 [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 MAPRE2 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 MAPRE2

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 MAPRE2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2963241832557018:32557043:32568556:32568812:32585455:3258551732568556:32568812ENSG00000166974.8ENST00000587359.1
exon_skip_2963251832557018:32557043:32585455:32585517:32650158:3265023432585455:32585517ENSG00000166974.8ENST00000589180.1,ENST00000413393.1
exon_skip_2963271832558389:32558505:32585455:32585517:32650158:3265023432585455:32585517ENSG00000166974.8ENST00000436190.2
exon_skip_2963281832558389:32558505:32585478:32585517:32650158:3265023432585478:32585517ENSG00000166974.8ENST00000588349.2
exon_skip_2963301832621453:32621625:32650158:32650286:32677409:3267752232650158:32650286ENSG00000166974.8ENST00000300249.5,ENST00000588910.1
exon_skip_2963311832650158:32650286:32677409:32677555:32681909:3268202332677409:32677555ENSG00000166974.8ENST00000436190.2,ENST00000591734.1,ENST00000588349.2,ENST00000589699.1,ENST00000300249.5,ENST00000588910.1,ENST00000413393.1
exon_skip_2963331832706911:32707051:32711995:32712154:32720258:3272046132711995:32712154ENSG00000166974.8ENST00000436190.2,ENST00000589699.1,ENST00000300249.5,ENST00000538170.2,ENST00000413393.1

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

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Exon skipping events with PSIs in GTEx for MAPRE2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2963231832557018:32557043:32564360:32564436:32568556:3256880332564360:32564436ENSG00000166974.8ENST00000590793.1
exon_skip_2963241832557018:32557043:32568556:32568812:32585455:3258551732568556:32568812ENSG00000166974.8ENST00000587359.1
exon_skip_2963251832557018:32557043:32585455:32585517:32650158:3265023432585455:32585517ENSG00000166974.8ENST00000413393.1,ENST00000589180.1
exon_skip_2963271832558389:32558505:32585455:32585517:32650158:3265023432585455:32585517ENSG00000166974.8ENST00000436190.2
exon_skip_2963281832558389:32558505:32585478:32585517:32650158:3265023432585478:32585517ENSG00000166974.8ENST00000588349.2
exon_skip_2963301832621453:32621625:32650158:32650286:32677409:3267752232650158:32650286ENSG00000166974.8ENST00000300249.5,ENST00000588910.1
exon_skip_2963311832650158:32650286:32677409:32677555:32681909:3268202332677409:32677555ENSG00000166974.8ENST00000591734.1,ENST00000413393.1,ENST00000436190.2,ENST00000588349.2,ENST00000300249.5,ENST00000588910.1,ENST00000589699.1
exon_skip_2963331832706911:32707051:32711995:32712154:32720258:3272046132711995:32712154ENSG00000166974.8ENST00000413393.1,ENST00000436190.2,ENST00000300249.5,ENST00000538170.2,ENST00000589699.1

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 MAPRE2

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
ENST000003002493265015832650286Frame-shift
ENST000003002493267740932677555Frame-shift
ENST000003002493271199532712154In-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
ENST000003002493265015832650286Frame-shift
ENST000003002493267740932677555Frame-shift
ENST000003002493271199532712154In-frame

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Infer the effects of exon skipping event on protein functional features for MAPRE2

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
ENST00000300249428232732711995327121549311089250303

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
ENST00000300249428232732711995327121549311089250303

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


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


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SNVs in the skipped exons for MAPRE2

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-CN-A49A-01exon_skip_296330
32650159326502863265027132650271Nonsense_MutationGTp.E67*

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
LNCAPCLONEFGC_PROSTATE32650159326502863265026032650260Missense_MutationAGp.Y75C
NCIH889_LUNG32650159326502863265028132650281Missense_MutationGTp.C82F
HEC251_ENDOMETRIUM32677410326775553267747632677476Missense_MutationTGp.F106C

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAPRE2

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 MAPRE2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAPRE2


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RelatedDrugs for MAPRE2

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 MAPRE2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
MAPRE2C4225225SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 21UNIPROT