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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 CCNB1IP1

check button Gene summary
Gene informationGene symbol

CCNB1IP1

Gene ID

57820

Gene namecyclin B1 interacting protein 1
SynonymsC14orf18|HEI10
Cytomap

14q11.2

Type of geneprotein-coding
DescriptionE3 ubiquitin-protein ligase CCNB1IP1RING-type E3 ubiquitin transferase CCNB1IP1cyclin B1 interacting protein 1, E3 ubiquitin protein ligaseepididymis secretory sperm binding proteinhuman enhancer of invasion 10
Modification date20200313
UniProtAcc

A0A384MR52,

G3V5E6,

G3V5Q4,

G3V5S3,

H0YJ70,

H0YJB2,

Q9NPC3,

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 CCNB1IP1

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

ENSG00000100814
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
CBDOWNENST00000353689.8CCNB1IP1-201:protein_coding:CCNB1IP11.736020e+02-2.232052e+001.987907e-097.697126e-08
CBDOWNENST00000554184.5CCNB1IP1-210:nonsense_mediated_decay:CCNB1IP17.848831e+00-9.374355e-019.879699e-045.112838e-03
TCDOWNENST00000353689.8CCNB1IP1-201:protein_coding:CCNB1IP11.267959e+02-1.610762e+006.228022e-046.834478e-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 CCNB1IP1

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_105445chr1420313637:20313801:20315781:20315850:20316227:2031626520315781:20315850
exon_skip_106761chr1420314211:20314649:20315485:20315618:20316227:2031626520315485:20315618
exon_skip_11686chr1420326716:20326793:20329174:20329373:20333254:2033331220329174:20329373
exon_skip_130432chr1420316227:20316560:20318256:20318470:20325539:2032565320318256:20318470
exon_skip_135064chr1420316512:20316560:20318256:20318470:20325539:2032565320318256:20318470
exon_skip_186266chr1420326716:20326793:20329174:20329373:20333254:2033327920329174:20329373
exon_skip_286368chr1420316227:20316560:20317794:20317974:20325539:2032565320317794:20317974
exon_skip_37950chr1420316227:20316560:20317795:20317974:20325539:2032565320317795:20317974
exon_skip_7768chr1420313637:20313801:20315485:20315618:20316227:2031626520315485:20315618
exon_skip_84309chr1420316512:20316560:20317794:20317974:20325539:2032565320317794:20317974
exon_skip_86662chr1420313468:20313801:20315781:20315850:20316227:2031626520315781:20315850
exon_skip_9953chr1420316480:20316560:20317795:20317974:20325539:2032565320317795:20317974

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 CCNB1IP1

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
ENST0000043755320317794203179743UTR-3UTR
ENST0000039816920317795203179743UTR-3UTR
ENST0000039816320318256203184703UTR-3UTR
ENST0000035893220329174203293733UTR-3UTR
ENST0000043755320329174203293733UTR-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
ENST0000043755320317794203179743UTR-3UTR
ENST0000039816920317795203179743UTR-3UTR
ENST0000039816320318256203184703UTR-3UTR
ENST0000035893220329174203293733UTR-3UTR
ENST0000043755320329174203293733UTR-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
ENST0000043755320317794203179743UTR-3UTR
ENST0000039816920317795203179743UTR-3UTR
ENST0000039816320318256203184703UTR-3UTR
ENST0000035893220329174203293733UTR-3UTR
ENST0000043755320329174203293733UTR-3UTR

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Infer the effects of exon skipping event on protein functional features for CCNB1IP1

p-ENSG00000100814_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 CCNB1IP1

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
MayoENST000003981692031779520317974hsa-miR-6727-5pchr14:20317919-203179268mer-1achr14:20317918-20317937153.00-28.27
MayoENST000004375532031779420317974hsa-miR-6727-5pchr14:20317919-203179268mer-1achr14:20317918-20317937153.00-28.27
MayoENST000003981632031825620318470hsa-miR-1976chr14:20318377-203183848mer-1achr14:20318364-20318384149.00-24.39
MayoENST000003981692031779520317974hsa-miR-670-5pchr14:20317883-203178908mer-1achr14:20317880-20317902149.00-22.52
MayoENST000004375532031779420317974hsa-miR-670-5pchr14:20317883-203178908mer-1achr14:20317880-20317902149.00-22.52
MayoENST000003981632031825620318470hsa-miR-6747-3pchr14:20318375-203183828mer-1achr14:20318364-20318384149.00-24.39
MayoENST000003981632031825620318470hsa-miR-4701-5pchr14:20318281-203182888mer-1achr14:20318268-20318288151.00-23.20
MayoENST000003981632031825620318470hsa-miR-3652chr14:20318440-203184478mer-1achr14:20318429-20318447159.00-24.44
MayoENST000003981692031779520317974hsa-miR-3612chr14:20317830-203178378mer-1achr14:20317819-20317839153.00-23.13
MayoENST000004375532031779420317974hsa-miR-3612chr14:20317830-203178378mer-1achr14:20317819-20317839153.00-23.13
MayoENST000003981692031779520317974hsa-miR-345-3pchr14:20317882-203178898mer-1achr14:20317880-20317902149.00-22.52
MayoENST000004375532031779420317974hsa-miR-345-3pchr14:20317882-203178898mer-1achr14:20317880-20317902149.00-22.52
MayoENST000003981632031825620318470hsa-miR-6511b-5pchr14:20318346-203183538mer-1achr14:20318339-20318360169.00-28.63
MayoENST000003981692031779520317974hsa-miR-6775-5pchr14:20317918-203179258mer-1achr14:20317918-20317937153.00-28.27
MayoENST000004375532031779420317974hsa-miR-6775-5pchr14:20317918-203179258mer-1achr14:20317918-20317937153.00-28.27
MayoENST000003981632031825620318470hsa-miR-744-3pchr14:20318449-203184568mer-1achr14:20318442-20318462140.00-13.02
MayoENST000003981692031779520317974hsa-miR-4736chr14:20317937-203179448mer-1achr14:20317922-20317947159.00-29.68
MayoENST000004375532031779420317974hsa-miR-4736chr14:20317937-203179448mer-1achr14:20317922-20317947159.00-29.68
MayoENST000003981632031825620318470hsa-miR-4430chr14:20318440-203184478mer-1achr14:20318429-20318447159.00-24.44
MayoENST000003981632031825620318470hsa-miR-6811-5pchr14:20318346-203183538mer-1achr14:20318339-20318360169.00-28.63
MayoENST000003981632031825620318470hsa-miR-6812-3pchr14:20318455-203184628mer-1achr14:20318442-20318462140.00-13.02
MayoENST000003981692031779520317974hsa-miR-650chr14:20317830-203178378mer-1achr14:20317819-20317839153.00-23.13
MayoENST000004375532031779420317974hsa-miR-650chr14:20317830-203178378mer-1achr14:20317819-20317839153.00-23.13
MayoENST000003981632031825620318470hsa-miR-4638-5pchr14:20318418-203184258mer-1achr14:20318418-20318441156.00-15.22
MayoENST000003981632031825620318470hsa-miR-588chr14:20318281-203182888mer-1achr14:20318268-20318288151.00-23.20
MayoENST000003981692031779520317974hsa-miR-6840-3pchr14:20317930-203179378mer-1achr14:20317922-20317947159.00-29.68
MayoENST000004375532031779420317974hsa-miR-6840-3pchr14:20317930-203179378mer-1achr14:20317922-20317947159.00-29.68
MayoENST000003981692031779520317974hsa-miR-5090chr14:20317918-203179258mer-1achr14:20317918-20317937153.00-28.27
MayoENST000004375532031779420317974hsa-miR-5090chr14:20317918-203179258mer-1achr14:20317918-20317937153.00-28.27
MayoENST000003981692031779520317974hsa-miR-937-3pchr14:20317813-203178208mer-1achr14:20317799-20317820160.00-23.15
MayoENST000004375532031779420317974hsa-miR-937-3pchr14:20317813-203178208mer-1achr14:20317799-20317820160.00-23.15
MayoENST000003981632031825620318470hsa-miR-3152-5pchr14:20318400-203184078mer-1achr14:20318394-20318416166.00-20.86
MayoENST000004375532032917420329373hsa-miR-181a-2-3pchr14:20329353-203293608mer-1achr14:20329349-20329370147.00-24.23
MayoENST000003981632031825620318470hsa-miR-504-3pchr14:20318436-203184438mer-1achr14:20318424-20318446155.00-33.78
MSBBENST000003981692031779520317974hsa-miR-6727-5pchr14:20317919-203179268mer-1achr14:20317918-20317937153.00-28.27
MSBBENST000004375532031779420317974hsa-miR-6727-5pchr14:20317919-203179268mer-1achr14:20317918-20317937153.00-28.27
MSBBENST000003981632031825620318470hsa-miR-1976chr14:20318377-203183848mer-1achr14:20318364-20318384149.00-24.39
MSBBENST000003981692031779520317974hsa-miR-670-5pchr14:20317883-203178908mer-1achr14:20317880-20317902149.00-22.52
MSBBENST000004375532031779420317974hsa-miR-670-5pchr14:20317883-203178908mer-1achr14:20317880-20317902149.00-22.52
MSBBENST000003981632031825620318470hsa-miR-6747-3pchr14:20318375-203183828mer-1achr14:20318364-20318384149.00-24.39
MSBBENST000003981632031825620318470hsa-miR-4701-5pchr14:20318281-203182888mer-1achr14:20318268-20318288151.00-23.20
MSBBENST000003981632031825620318470hsa-miR-3652chr14:20318440-203184478mer-1achr14:20318429-20318447159.00-24.44
MSBBENST000003981692031779520317974hsa-miR-3612chr14:20317830-203178378mer-1achr14:20317819-20317839153.00-23.13
MSBBENST000004375532031779420317974hsa-miR-3612chr14:20317830-203178378mer-1achr14:20317819-20317839153.00-23.13
MSBBENST000003981692031779520317974hsa-miR-345-3pchr14:20317882-203178898mer-1achr14:20317880-20317902149.00-22.52
MSBBENST000004375532031779420317974hsa-miR-345-3pchr14:20317882-203178898mer-1achr14:20317880-20317902149.00-22.52
MSBBENST000003981632031825620318470hsa-miR-6511b-5pchr14:20318346-203183538mer-1achr14:20318339-20318360169.00-28.63
MSBBENST000003981692031779520317974hsa-miR-6775-5pchr14:20317918-203179258mer-1achr14:20317918-20317937153.00-28.27
MSBBENST000004375532031779420317974hsa-miR-6775-5pchr14:20317918-203179258mer-1achr14:20317918-20317937153.00-28.27
MSBBENST000003981632031825620318470hsa-miR-744-3pchr14:20318449-203184568mer-1achr14:20318442-20318462140.00-13.02
MSBBENST000003981692031779520317974hsa-miR-4736chr14:20317937-203179448mer-1achr14:20317922-20317947159.00-29.68
MSBBENST000004375532031779420317974hsa-miR-4736chr14:20317937-203179448mer-1achr14:20317922-20317947159.00-29.68
MSBBENST000003981632031825620318470hsa-miR-4430chr14:20318440-203184478mer-1achr14:20318429-20318447159.00-24.44
MSBBENST000003981632031825620318470hsa-miR-6811-5pchr14:20318346-203183538mer-1achr14:20318339-20318360169.00-28.63
MSBBENST000003981632031825620318470hsa-miR-6812-3pchr14:20318455-203184628mer-1achr14:20318442-20318462140.00-13.02
MSBBENST000003981692031779520317974hsa-miR-650chr14:20317830-203178378mer-1achr14:20317819-20317839153.00-23.13
MSBBENST000004375532031779420317974hsa-miR-650chr14:20317830-203178378mer-1achr14:20317819-20317839153.00-23.13
MSBBENST000003981632031825620318470hsa-miR-4638-5pchr14:20318418-203184258mer-1achr14:20318418-20318441156.00-15.22
MSBBENST000003981632031825620318470hsa-miR-588chr14:20318281-203182888mer-1achr14:20318268-20318288151.00-23.20
MSBBENST000003981692031779520317974hsa-miR-6840-3pchr14:20317930-203179378mer-1achr14:20317922-20317947159.00-29.68
MSBBENST000004375532031779420317974hsa-miR-6840-3pchr14:20317930-203179378mer-1achr14:20317922-20317947159.00-29.68
MSBBENST000003981692031779520317974hsa-miR-5090chr14:20317918-203179258mer-1achr14:20317918-20317937153.00-28.27
MSBBENST000004375532031779420317974hsa-miR-5090chr14:20317918-203179258mer-1achr14:20317918-20317937153.00-28.27
MSBBENST000003981692031779520317974hsa-miR-937-3pchr14:20317813-203178208mer-1achr14:20317799-20317820160.00-23.15
MSBBENST000004375532031779420317974hsa-miR-937-3pchr14:20317813-203178208mer-1achr14:20317799-20317820160.00-23.15
MSBBENST000003981632031825620318470hsa-miR-3152-5pchr14:20318400-203184078mer-1achr14:20318394-20318416166.00-20.86
MSBBENST000004375532032917420329373hsa-miR-181a-2-3pchr14:20329353-203293608mer-1achr14:20329349-20329370147.00-24.23
MSBBENST000003981632031825620318470hsa-miR-504-3pchr14:20318436-203184438mer-1achr14:20318424-20318446155.00-33.78
ROSMAPENST000003981692031779520317974hsa-miR-6727-5pchr14:20317919-203179268mer-1achr14:20317918-20317937153.00-28.27
ROSMAPENST000004375532031779420317974hsa-miR-6727-5pchr14:20317919-203179268mer-1achr14:20317918-20317937153.00-28.27
ROSMAPENST000003981632031825620318470hsa-miR-1976chr14:20318377-203183848mer-1achr14:20318364-20318384149.00-24.39
ROSMAPENST000003981692031779520317974hsa-miR-670-5pchr14:20317883-203178908mer-1achr14:20317880-20317902149.00-22.52
ROSMAPENST000004375532031779420317974hsa-miR-670-5pchr14:20317883-203178908mer-1achr14:20317880-20317902149.00-22.52
ROSMAPENST000003981632031825620318470hsa-miR-6747-3pchr14:20318375-203183828mer-1achr14:20318364-20318384149.00-24.39
ROSMAPENST000003981632031825620318470hsa-miR-4701-5pchr14:20318281-203182888mer-1achr14:20318268-20318288151.00-23.20
ROSMAPENST000003981632031825620318470hsa-miR-3652chr14:20318440-203184478mer-1achr14:20318429-20318447159.00-24.44
ROSMAPENST000003981692031779520317974hsa-miR-3612chr14:20317830-203178378mer-1achr14:20317819-20317839153.00-23.13
ROSMAPENST000004375532031779420317974hsa-miR-3612chr14:20317830-203178378mer-1achr14:20317819-20317839153.00-23.13
ROSMAPENST000003981692031779520317974hsa-miR-345-3pchr14:20317882-203178898mer-1achr14:20317880-20317902149.00-22.52
ROSMAPENST000004375532031779420317974hsa-miR-345-3pchr14:20317882-203178898mer-1achr14:20317880-20317902149.00-22.52
ROSMAPENST000003981632031825620318470hsa-miR-6511b-5pchr14:20318346-203183538mer-1achr14:20318339-20318360169.00-28.63
ROSMAPENST000003981692031779520317974hsa-miR-6775-5pchr14:20317918-203179258mer-1achr14:20317918-20317937153.00-28.27
ROSMAPENST000004375532031779420317974hsa-miR-6775-5pchr14:20317918-203179258mer-1achr14:20317918-20317937153.00-28.27
ROSMAPENST000003981632031825620318470hsa-miR-744-3pchr14:20318449-203184568mer-1achr14:20318442-20318462140.00-13.02
ROSMAPENST000003981692031779520317974hsa-miR-4736chr14:20317937-203179448mer-1achr14:20317922-20317947159.00-29.68
ROSMAPENST000004375532031779420317974hsa-miR-4736chr14:20317937-203179448mer-1achr14:20317922-20317947159.00-29.68
ROSMAPENST000003981632031825620318470hsa-miR-4430chr14:20318440-203184478mer-1achr14:20318429-20318447159.00-24.44
ROSMAPENST000003981632031825620318470hsa-miR-6811-5pchr14:20318346-203183538mer-1achr14:20318339-20318360169.00-28.63
ROSMAPENST000003981632031825620318470hsa-miR-6812-3pchr14:20318455-203184628mer-1achr14:20318442-20318462140.00-13.02
ROSMAPENST000003981692031779520317974hsa-miR-650chr14:20317830-203178378mer-1achr14:20317819-20317839153.00-23.13
ROSMAPENST000004375532031779420317974hsa-miR-650chr14:20317830-203178378mer-1achr14:20317819-20317839153.00-23.13
ROSMAPENST000003981632031825620318470hsa-miR-4638-5pchr14:20318418-203184258mer-1achr14:20318418-20318441156.00-15.22
ROSMAPENST000003981632031825620318470hsa-miR-588chr14:20318281-203182888mer-1achr14:20318268-20318288151.00-23.20
ROSMAPENST000003981692031779520317974hsa-miR-6840-3pchr14:20317930-203179378mer-1achr14:20317922-20317947159.00-29.68
ROSMAPENST000004375532031779420317974hsa-miR-6840-3pchr14:20317930-203179378mer-1achr14:20317922-20317947159.00-29.68
ROSMAPENST000003981692031779520317974hsa-miR-5090chr14:20317918-203179258mer-1achr14:20317918-20317937153.00-28.27
ROSMAPENST000004375532031779420317974hsa-miR-5090chr14:20317918-203179258mer-1achr14:20317918-20317937153.00-28.27
ROSMAPENST000003981692031779520317974hsa-miR-937-3pchr14:20317813-203178208mer-1achr14:20317799-20317820160.00-23.15
ROSMAPENST000004375532031779420317974hsa-miR-937-3pchr14:20317813-203178208mer-1achr14:20317799-20317820160.00-23.15
ROSMAPENST000003981632031825620318470hsa-miR-3152-5pchr14:20318400-203184078mer-1achr14:20318394-20318416166.00-20.86
ROSMAPENST000004375532032917420329373hsa-miR-181a-2-3pchr14:20329353-203293608mer-1achr14:20329349-20329370147.00-24.23
ROSMAPENST000003981632031825620318470hsa-miR-504-3pchr14:20318436-203184438mer-1achr14:20318424-20318446155.00-33.78

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SNVs in the skipped exons for CCNB1IP1

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 CCNB1IP1

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 CCNB1IP1

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 CCNB1IP1

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

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RelatedDrugs for CCNB1IP1

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 CCNB1IP1

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