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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 CCDC82

check button Gene summary
Gene informationGene symbol

CCDC82

Gene ID

79780

Gene namecoiled-coil domain containing 82
SynonymsHSPC048
Cytomap

11q21

Type of geneprotein-coding
Descriptioncoiled-coil domain-containing protein 82
Modification date20200313
UniProtAcc

A0A024R3B3,

A0A024R3B8,

A0A2R8Y4L3,

A0A2R8Y7C3,

A0A2R8YE98,

A0A494BZX3,

E9PMD6,

F5H777,

Q8N4S0,

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 CCDC82

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

ENSG00000149231
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.
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value

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 CCDC82

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_104805chr1196383269:96383473:96383962:96384761:96386254:9638629396383962:96384761
exon_skip_160794chr1196384658:96384761:96385937:96386020:96386254:9638629396385937:96386020
exon_skip_172338chr1196387530:96387613:96388695:96388829:96389844:9638994896388695:96388829
exon_skip_204512chr1196365127:96365150:96371013:96371137:96373375:9637346796371013:96371137
exon_skip_220788chr1196384658:96384761:96386254:96386293:96387530:9638761396386254:96386293
exon_skip_256225chr1196387530:96387613:96388695:96388829:96389844:9638989196388695:96388829
exon_skip_53754chr1196387530:96387613:96389365:96389523:96389844:9638989196389365:96389523
exon_skip_73649chr1196385937:96386020:96386254:96386293:96387530:9638761396386254:96386293
exon_skip_87002chr1196386254:96386293:96387530:96387613:96389844:9638989196387530:96387613

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 CCDC82

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
ENST0000064536696385937963860203UTR-3UTR
ENST0000064536696386254963862933UTR-3UTR
ENST0000064550096386254963862933UTR-3UTR
ENST0000064663896386254963862933UTR-3UTR
ENST0000064681896386254963862933UTR-3UTR
ENST0000064468696387530963876133UTR-3UTR
ENST0000064681896387530963876133UTR-3UTR
ENST0000064550096388695963888293UTR-3UTR
ENST0000064536696389365963895233UTR-3UTR

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
ENST0000064536696385937963860203UTR-3UTR
ENST0000064550096388695963888293UTR-3UTR

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
ENST0000027852096383962963847613UTR-3CDS
ENST0000064550096383962963847613UTR-3CDS
ENST0000064663896383962963847613UTR-3CDS
ENST0000064681896383962963847613UTR-3CDS
ENST0000064536696385937963860203UTR-3UTR
ENST0000064536696386254963862933UTR-3UTR
ENST0000064550096386254963862933UTR-3UTR
ENST0000064663896386254963862933UTR-3UTR
ENST0000064681896386254963862933UTR-3UTR
ENST0000064468696387530963876133UTR-3UTR
ENST0000064681896387530963876133UTR-3UTR
ENST0000064550096388695963888293UTR-3UTR
ENST0000064536696389365963895233UTR-3UTR
ENST000002785209637101396371137Frame-shift
ENST000004233399637101396371137Frame-shift
ENST000006446869637101396371137Frame-shift
ENST000006453669637101396371137Frame-shift
ENST000006454399637101396371137Frame-shift
ENST000006455009637101396371137Frame-shift
ENST000006466389637101396371137Frame-shift
ENST000006468189637101396371137Frame-shift

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Infer the effects of exon skipping event on protein functional features for CCDC82

p-ENSG00000149231_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

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

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

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

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

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


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3'-UTR located exon skipping events that lost miRNA binding sites in CCDC82

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
MayoENST000006453669638936596389523hsa-miR-4254chr11:96389422-963894298mer-1achr11:96389422-96389443166.00-22.61
MayoENST000006455009638869596388829hsa-miR-3671chr11:96388765-963887728mer-1achr11:96388751-96388772160.00-10.95
MayoENST000006453669638593796386020hsa-miR-6737-3pchr11:96385971-963859788mer-1achr11:96385958-96385978153.00-19.91
MayoENST000006453669638593796386020hsa-miR-5008-3pchr11:96385971-963859788mer-1achr11:96385958-96385978153.00-19.91
MayoENST000006455009638869596388829hsa-miR-607chr11:96388766-963887738mer-1achr11:96388753-96388773152.00-10.62
MayoENST000006453669638936596389523hsa-miR-3612chr11:96389419-963894268mer-1achr11:96389412-96389432153.00-18.40
MayoENST000006455009638869596388829hsa-miR-631chr11:96388756-963887638mer-1achr11:96388743-96388763154.00-23.83
MayoENST000006453669638936596389523hsa-miR-5572chr11:96389510-963895178mer-1achr11:96389497-96389517158.00-23.44
MayoENST000006468189638753096387613hsa-miR-6773-3pchr11:96387551-963875588mer-1achr11:96387550-96387572162.00-14.20
MayoENST000006455009638869596388829hsa-miR-324-3pchr11:96388745-963887528mer-1achr11:96388741-96388761158.00-23.34
MayoENST000006453669638936596389523hsa-miR-1539chr11:96389486-963894938mer-1achr11:96389486-96389510169.00-35.29
MayoENST000006453669638936596389523hsa-miR-637chr11:96389503-963895108mer-1achr11:96389486-96389510169.00-35.29
MayoENST000006453669638936596389523hsa-miR-23a-5pchr11:96389382-963893898mer-1achr11:96389368-96389398154.00-36.32
MayoENST000006453669638936596389523hsa-miR-4749-3pchr11:96389432-963894398mer-1achr11:96389424-96389443173.00-30.73
MayoENST000006453669638593796386020hsa-miR-4778-5pchr11:96385974-963859818mer-1achr11:96385973-96385996158.00-12.74
MayoENST000006453669638593796386020hsa-miR-7157-3pchr11:96385971-963859788mer-1achr11:96385958-96385978153.00-19.91
MayoENST000006468189638753096387613hsa-miR-644achr11:96387599-963876068mer-1achr11:96387590-96387612151.00-15.01
MayoENST000006453669638936596389523hsa-miR-650chr11:96389419-963894268mer-1achr11:96389412-96389432153.00-18.40
MayoENST000006455009638869596388829hsa-miR-4762-5pchr11:96388734-963887418mer-1achr11:96388729-96388752152.00-23.43
MayoENST000006468189638753096387613hsa-miR-576-5pchr11:96387565-963875728mer-1achr11:96387550-96387572162.00-14.20
MayoENST000006455009638869596388829hsa-miR-3661chr11:96388756-963887638mer-1achr11:96388743-96388763154.00-23.83
MayoENST000006455009638869596388829hsa-miR-4650-3pchr11:96388774-963887818mer-1achr11:96388772-96388790143.00-21.50
MayoENST000006455009638869596388829hsa-miR-6509-3pchr11:96388746-963887538mer-1achr11:96388741-96388761158.00-23.34
MayoENST000006455009638869596388829hsa-miR-4667-3pchr11:96388781-963887888mer-1achr11:96388781-96388801146.00-27.06
MayoENST000006468189638753096387613hsa-miR-4289chr11:96387603-963876108mer-1achr11:96387590-96387612151.00-15.01
MayoENST000006453669638936596389523hsa-miR-23b-5pchr11:96389382-963893898mer-1achr11:96389368-96389398154.00-36.32
MayoENST000006468189638753096387613hsa-miR-147achr11:96387600-963876078mer-1achr11:96387590-96387612151.00-15.01
MayoENST000006453669638936596389523hsa-miR-384chr11:96389446-963894538mer-1achr11:96389446-96389467160.00-19.65
MayoENST000006468189638625496386293hsa-miR-3978chr11:96386270-963862778mer-1achr11:96386255-96386277160.00-15.52
MayoENST000006468189638753096387613hsa-miR-891a-3pchr11:96387597-963876048mer-1achr11:96387590-96387612151.00-15.01
MSBBENST000006455009638869596388829hsa-miR-3671chr11:96388765-963887728mer-1achr11:96388751-96388772160.00-10.95
MSBBENST000006453669638593796386020hsa-miR-6737-3pchr11:96385971-963859788mer-1achr11:96385958-96385978153.00-19.91
MSBBENST000006453669638593796386020hsa-miR-5008-3pchr11:96385971-963859788mer-1achr11:96385958-96385978153.00-19.91
MSBBENST000006455009638869596388829hsa-miR-607chr11:96388766-963887738mer-1achr11:96388753-96388773152.00-10.62
MSBBENST000006455009638869596388829hsa-miR-631chr11:96388756-963887638mer-1achr11:96388743-96388763154.00-23.83
MSBBENST000006455009638869596388829hsa-miR-324-3pchr11:96388745-963887528mer-1achr11:96388741-96388761158.00-23.34
MSBBENST000006453669638593796386020hsa-miR-4778-5pchr11:96385974-963859818mer-1achr11:96385973-96385996158.00-12.74
MSBBENST000006453669638593796386020hsa-miR-7157-3pchr11:96385971-963859788mer-1achr11:96385958-96385978153.00-19.91
MSBBENST000006455009638869596388829hsa-miR-4762-5pchr11:96388734-963887418mer-1achr11:96388729-96388752152.00-23.43
MSBBENST000006455009638869596388829hsa-miR-3661chr11:96388756-963887638mer-1achr11:96388743-96388763154.00-23.83
MSBBENST000006455009638869596388829hsa-miR-4650-3pchr11:96388774-963887818mer-1achr11:96388772-96388790143.00-21.50
MSBBENST000006455009638869596388829hsa-miR-6509-3pchr11:96388746-963887538mer-1achr11:96388741-96388761158.00-23.34
MSBBENST000006455009638869596388829hsa-miR-4667-3pchr11:96388781-963887888mer-1achr11:96388781-96388801146.00-27.06
ROSMAPENST000006453669638936596389523hsa-miR-4254chr11:96389422-963894298mer-1achr11:96389422-96389443166.00-22.61
ROSMAPENST000006455009638869596388829hsa-miR-3671chr11:96388765-963887728mer-1achr11:96388751-96388772160.00-10.95
ROSMAPENST000006453669638593796386020hsa-miR-6737-3pchr11:96385971-963859788mer-1achr11:96385958-96385978153.00-19.91
ROSMAPENST000006453669638593796386020hsa-miR-5008-3pchr11:96385971-963859788mer-1achr11:96385958-96385978153.00-19.91
ROSMAPENST000006455009638869596388829hsa-miR-607chr11:96388766-963887738mer-1achr11:96388753-96388773152.00-10.62
ROSMAPENST000006453669638936596389523hsa-miR-3612chr11:96389419-963894268mer-1achr11:96389412-96389432153.00-18.40
ROSMAPENST000006455009638869596388829hsa-miR-631chr11:96388756-963887638mer-1achr11:96388743-96388763154.00-23.83
ROSMAPENST000006453669638936596389523hsa-miR-5572chr11:96389510-963895178mer-1achr11:96389497-96389517158.00-23.44
ROSMAPENST000006468189638753096387613hsa-miR-6773-3pchr11:96387551-963875588mer-1achr11:96387550-96387572162.00-14.20
ROSMAPENST000006455009638869596388829hsa-miR-324-3pchr11:96388745-963887528mer-1achr11:96388741-96388761158.00-23.34
ROSMAPENST000006453669638936596389523hsa-miR-1539chr11:96389486-963894938mer-1achr11:96389486-96389510169.00-35.29
ROSMAPENST000006453669638936596389523hsa-miR-637chr11:96389503-963895108mer-1achr11:96389486-96389510169.00-35.29
ROSMAPENST000006453669638936596389523hsa-miR-23a-5pchr11:96389382-963893898mer-1achr11:96389368-96389398154.00-36.32
ROSMAPENST000006453669638936596389523hsa-miR-4749-3pchr11:96389432-963894398mer-1achr11:96389424-96389443173.00-30.73
ROSMAPENST000006453669638593796386020hsa-miR-4778-5pchr11:96385974-963859818mer-1achr11:96385973-96385996158.00-12.74
ROSMAPENST000006453669638593796386020hsa-miR-7157-3pchr11:96385971-963859788mer-1achr11:96385958-96385978153.00-19.91
ROSMAPENST000006468189638753096387613hsa-miR-644achr11:96387599-963876068mer-1achr11:96387590-96387612151.00-15.01
ROSMAPENST000006453669638936596389523hsa-miR-650chr11:96389419-963894268mer-1achr11:96389412-96389432153.00-18.40
ROSMAPENST000006455009638869596388829hsa-miR-4762-5pchr11:96388734-963887418mer-1achr11:96388729-96388752152.00-23.43
ROSMAPENST000006468189638753096387613hsa-miR-576-5pchr11:96387565-963875728mer-1achr11:96387550-96387572162.00-14.20
ROSMAPENST000006455009638869596388829hsa-miR-3661chr11:96388756-963887638mer-1achr11:96388743-96388763154.00-23.83
ROSMAPENST000006455009638869596388829hsa-miR-4650-3pchr11:96388774-963887818mer-1achr11:96388772-96388790143.00-21.50
ROSMAPENST000006455009638869596388829hsa-miR-6509-3pchr11:96388746-963887538mer-1achr11:96388741-96388761158.00-23.34
ROSMAPENST000006455009638869596388829hsa-miR-4667-3pchr11:96388781-963887888mer-1achr11:96388781-96388801146.00-27.06
ROSMAPENST000006468189638753096387613hsa-miR-4289chr11:96387603-963876108mer-1achr11:96387590-96387612151.00-15.01
ROSMAPENST000006453669638936596389523hsa-miR-23b-5pchr11:96389382-963893898mer-1achr11:96389368-96389398154.00-36.32
ROSMAPENST000006468189638753096387613hsa-miR-147achr11:96387600-963876078mer-1achr11:96387590-96387612151.00-15.01
ROSMAPENST000006453669638936596389523hsa-miR-384chr11:96389446-963894538mer-1achr11:96389446-96389467160.00-19.65
ROSMAPENST000006468189638625496386293hsa-miR-3978chr11:96386270-963862778mer-1achr11:96386255-96386277160.00-15.52
ROSMAPENST000006468189638753096387613hsa-miR-891a-3pchr11:96387597-963876048mer-1achr11:96387590-96387612151.00-15.01

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SNVs in the skipped exons for CCDC82

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 CCDC82

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 CCDC82

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
CBexon_skip_256225rs1253227chr11:962963187.228545e-072.702870e-04
HCCexon_skip_160794rs10831526chr11:964542115.651907e-043.736176e-02
HCCexon_skip_160794rs1597631chr11:964569975.651907e-043.736176e-02
HCCexon_skip_160794rs1376492chr11:964589525.901089e-043.863125e-02
HCCexon_skip_160794rs7928913chr11:964510357.365537e-044.596834e-02
DLPFCexon_skip_160794rs12791333chr11:963446087.520916e-056.604323e-03
DLPFCexon_skip_160794rs2155574chr11:963802774.312455e-042.866555e-02

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Correlation with RNA binding proteins (RBPs) for CCDC82

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBDAZAP1exon_skip_220788-4.679418e-011.561456e-09
CBSAMD4Aexon_skip_220788-5.007334e-016.780685e-11
CBZFP36exon_skip_215028-4.281072e-014.634826e-08
CBHNRNPDLexon_skip_215028-4.424690e-011.434830e-08
TCMSI1exon_skip_1607944.030932e-011.258770e-07

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RelatedDrugs for CCDC82

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 CCDC82

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