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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 RPSMAP, MSBB, and Mayo

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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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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for CABYR

check button Gene summary
Gene informationGene symbol

CABYR

Gene ID

26256

Gene namecalcium binding tyrosine phosphorylation regulated
SynonymsCABYRa|CABYRc|CABYRc/d|CABYRe|CBP86|CT88|FSP-2|FSP2
Cytomap

18q11.2

Type of geneprotein-coding
Descriptioncalcium-binding tyrosine phosphorylation-regulated proteincalcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2)calcium-binding protein 86cancer/testis antigen 88fibrousheathin IIfibrousheathin-2testis tissue sperm-binding protein
Modification date20200313
UniProtAcc

A0A024RC21,

A0A0D9SFQ2,

G9BQT7,

J3KRI0,

J3KT09,

J3KTE8,

J3QLW5,

J3QQK7,

O75952,

Context

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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Gene structures and expression levels for CABYR

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo 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

ENSG00000154040
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBDOWNENST00000327201.10CABYR-201:protein_coding:CABYR1.007292e+01-1.277561e+002.828551e-041.783728e-03

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CABYR

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_111318chr1824156874:24156999:24159472:24160069:24161516:2416160024159472:24160069
exon_skip_116995chr1824143130:24143259:24143360:24143413:24155701:2415575424143360:24143413
exon_skip_121495chr1824156874:24156999:24159946:24160069:24161516:2416160024159946:24160069
exon_skip_149081chr1824143360:24143413:24155701:24156999:24159472:2415957224155701:24156999
exon_skip_154064chr1824143091:24143259:24143360:24143413:24155701:2415604224143360:24143413
exon_skip_180866chr1824139097:24139118:24143091:24143259:24155701:2415575424143091:24143259
exon_skip_204540chr1824143360:24143413:24155701:24156042:24159472:2415957224155701:24156042
exon_skip_51400chr1824139097:24139118:24143091:24143259:24155701:2415604224143091:24143259
exon_skip_65378chr1824156874:24156999:24159943:24160069:24161516:2416160024159943:24160069
exon_skip_70737chr1824143360:24143413:24155701:24156999:24159946:2416006924155701:24156999
exon_skip_8631chr1824143360:24143413:24155701:24156042:24159946:2416006924155701:24156042

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000046308724155701241569993UTR-3CDS
ENST0000062164824155701241569993UTR-3CDS
ENST000004630872414336024143413In-frame
ENST000004867592414336024143413In-frame
ENST000006216482414336024143413In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004630872414336024143413In-frame
ENST000004867592414336024143413In-frame
ENST000006216482414336024143413In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000062164824155701241569993UTR-3CDS
ENST0000062164824159472241600693UTR-3UTR
ENST0000046308724159946241600693UTR-3UTR
ENST000004630872414336024143413In-frame
ENST000004867592414336024143413In-frame
ENST000006216482414336024143413In-frame

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

p-ENSG00000154040_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000463087180949324143360241434132322844966
ENST00000486759168149324143360241434132282804966
ENST00000621648224349324143360241434131952474966

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000463087180949324143360241434132322844966
ENST00000486759168149324143360241434132282804966
ENST00000621648224349324143360241434131952474966

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000463087180949324143360241434132322844966
ENST00000486759168149324143360241434132282804966
ENST00000621648224349324143360241434131952474966

check button Lost protein functional features of individual exon skipping events in ROSMAP.
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
O7595249661201Alternative sequenceID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O7595249661201Alternative sequenceID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O7595249661201Alternative sequenceID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O759524966198Alternative sequenceID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O759524966198Alternative sequenceID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O759524966198Alternative sequenceID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O7595249664966Alternative sequenceID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039
O7595249664966Alternative sequenceID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039
O7595249664966Alternative sequenceID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039
O7595249661493ChainID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein
O7595249661493ChainID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein
O7595249661493ChainID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein
O7595249661249DomainNote=RIIa
O7595249661249DomainNote=RIIa
O7595249661249DomainNote=RIIa

check button Lost protein functional features of individual exon skipping events in MSBB.
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
O7595249661201Alternative sequenceID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O7595249661201Alternative sequenceID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O7595249661201Alternative sequenceID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O759524966198Alternative sequenceID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O759524966198Alternative sequenceID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O759524966198Alternative sequenceID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O7595249664966Alternative sequenceID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039
O7595249664966Alternative sequenceID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039
O7595249664966Alternative sequenceID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039
O7595249661493ChainID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein
O7595249661493ChainID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein
O7595249661493ChainID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein
O7595249661249DomainNote=RIIa
O7595249661249DomainNote=RIIa
O7595249661249DomainNote=RIIa

check button Lost protein functional features of individual exon skipping events in Mayo.
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
O7595249661201Alternative sequenceID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O7595249661201Alternative sequenceID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O7595249661201Alternative sequenceID=VSP_016245;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O759524966198Alternative sequenceID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O759524966198Alternative sequenceID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O759524966198Alternative sequenceID=VSP_016246;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11820818;Dbxref=PMID:11820818
O7595249664966Alternative sequenceID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039
O7595249664966Alternative sequenceID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039
O7595249664966Alternative sequenceID=VSP_016247;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11820818,ECO:0000303|PubMed:14702039;Dbxref=PMID:11820818,PMID:14702039
O7595249661493ChainID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein
O7595249661493ChainID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein
O7595249661493ChainID=PRO_0000089268;Note=Calcium-binding tyrosine phosphorylation-regulated protein
O7595249661249DomainNote=RIIa
O7595249661249DomainNote=RIIa
O7595249661249DomainNote=RIIa


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3'-UTR located exon skipping events that lost miRNA binding sites in CABYR

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda
MayoENST000004630872415994624160069hsa-miR-30e-3pchr18:24160059-241600668mer-1achr18:24160045-24160066148.00-12.66
MayoENST000006216482415947224160069hsa-miR-30e-3pchr18:24160059-241600668mer-1achr18:24160045-24160066148.00-12.66
MayoENST000006216482415947224160069hsa-miR-6733-5pchr18:24159934-241599418mer-1achr18:24159934-24159956179.00-30.15
MayoENST000006216482415947224160069hsa-miR-3121-3pchr18:24159604-241596118mer-1achr18:24159597-24159617146.00-16.83
MayoENST000006216482415947224160069hsa-miR-6739-5pchr18:24159934-241599418mer-1achr18:24159934-24159956179.00-30.15
MayoENST000006216482415947224160069hsa-miR-7162-5pchr18:24159733-241597408mer-1achr18:24159724-24159744158.00-21.57
MayoENST000006216482415947224160069hsa-miR-146b-3pchr18:24159739-241597468mer-1achr18:24159736-24159758148.00-18.71
MayoENST000006216482415947224160069hsa-miR-3165chr18:24159643-241596508mer-1achr18:24159641-24159663163.00-17.07
MayoENST000004630872415994624160069hsa-miR-1251-3pchr18:24160048-241600558mer-1achr18:24160045-24160066148.00-12.66
MayoENST000006216482415947224160069hsa-miR-1251-3pchr18:24160048-241600558mer-1achr18:24160045-24160066148.00-12.66
MayoENST000006216482415947224160069hsa-miR-3665chr18:24159571-241595788mer-1achr18:24159559-24159578150.00-23.68
MayoENST000006216482415947224160069hsa-miR-494-5pchr18:24159493-241595008mer-1achr18:24159478-24159500169.00-19.75
MayoENST000006216482415947224160069hsa-miR-323b-5pchr18:24159493-241595008mer-1achr18:24159478-24159500169.00-19.75
MayoENST000006216482415947224160069hsa-miR-410-5pchr18:24159493-241595008mer-1achr18:24159478-24159500169.00-19.75
MayoENST000006216482415947224160069hsa-miR-1179chr18:24159869-241598768mer-1achr18:24159860-24159884154.00-24.43
MayoENST000006216482415947224160069hsa-miR-33b-5pchr18:24159805-241598128mer-1achr18:24159804-24159832140.00-25.14
MayoENST000006216482415947224160069hsa-miR-4738-3pchr18:24159630-241596378mer-1achr18:24159625-24159649160.00-20.57
MayoENST000006216482415947224160069hsa-miR-516b-3pchr18:24159733-241597408mer-1achr18:24159724-24159744158.00-21.57
MayoENST000006216482415947224160069hsa-miR-516a-3pchr18:24159733-241597408mer-1achr18:24159724-24159744158.00-21.57
MayoENST000006216482415947224160069hsa-miR-10394-5pchr18:24159828-241598358mer-1achr18:24159817-24159839162.00-22.06
MayoENST000006216482415947224160069hsa-miR-217-3pchr18:24159536-241595438mer-1achr18:24159528-24159552151.00-22.01
MayoENST000006216482415947224160069hsa-miR-4774-5pchr18:24159842-241598498mer-1achr18:24159828-24159849142.00-15.93
MayoENST000006216482415947224160069hsa-miR-33a-5pchr18:24159805-241598128mer-1achr18:24159804-24159832140.00-25.14
MayoENST000004630872415994624160069hsa-miR-30a-3pchr18:24160059-241600668mer-1achr18:24160045-24160066148.00-12.66
MayoENST000006216482415947224160069hsa-miR-30a-3pchr18:24160059-241600668mer-1achr18:24160045-24160066148.00-12.66
MayoENST000006216482415947224160069hsa-miR-1205chr18:24159828-241598358mer-1achr18:24159817-24159839162.00-22.06
MayoENST000004630872415994624160069hsa-miR-30d-3pchr18:24160059-241600668mer-1achr18:24160045-24160066148.00-12.66
MayoENST000006216482415947224160069hsa-miR-30d-3pchr18:24160059-241600668mer-1achr18:24160045-24160066148.00-12.66
MayoENST000006216482415947224160069hsa-miR-3153chr18:24159934-241599418mer-1achr18:24159934-24159956179.00-30.15
MayoENST000006216482415947224160069hsa-miR-6894-5pchr18:24159877-241598848mer-1achr18:24159860-24159884154.00-24.43

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SNVs in the skipped exons for CABYR

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for CABYR

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for CABYR

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for CABYR

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

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RelatedDiseases for CABYR

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