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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 MYCBP2

check button Gene summary
Gene informationGene symbol

MYCBP2

Gene ID

23077

Gene nameMYC binding protein 2
SynonymsMyc-bp2|PAM|PHR1|Phr
Cytomap

13q22.3

Type of geneprotein-coding
DescriptionE3 ubiquitin-protein ligase MYCBP2HighwireMYC binding protein 2, E3 ubiquitin protein ligasePAM/Highwire/RPM-1 protein 1RING-type E3 ubiquitin transferase MYCBP2myc-binding protein 2pam/highwire/rpm-1 proteinprotein associated with Myc
Modification date20200313
UniProtAcc

A0A087WY34,

A0A0C4DGY7,

A0A499FJI4,

H7C3U4,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
MYCBP2

GO:0016567

protein ubiquitination

29643511

MYCBP2

GO:0031398

positive regulation of protein ubiquitination

20534529


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Gene structures and expression levels for MYCBP2

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

ENSG00000005810
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
PCCDOWNENST00000596342.1MYCBP2-AS1-205:lncRNA:MYCBP21.643412e+00-8.372332e-012.085939e-034.018951e-02
PGDOWNENST00000485061.2MYCBP2-207:lncRNA:MYCBP23.530083e+01-9.255918e-016.584670e-041.076606e-02
CBDOWNENST00000491491.1MYCBP2-209:lncRNA:MYCBP21.087555e+00-3.675733e+001.295125e-024.288488e-02

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 MYCBP2

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_107471chr1377061169:77061301:77061662:77061790:77062596:7706269777061662:77061790
exon_skip_124061chr1377180127:77180318:77181701:77181922:77185103:7718537177181701:77181922
exon_skip_130300chr1377125336:77125468:77126318:77126542:77139196:7713933677126318:77126542
exon_skip_137057chr1377157937:77158109:77161906:77161955:77164454:7716454177161906:77161955
exon_skip_14754chr1377070631:77070711:77076760:77076849:77077148:7707738777076760:77076849
exon_skip_167020chr1377098885:77099013:77103209:77103310:77118340:7711846277103209:77103310
exon_skip_17287chr1377056986:77057093:77058218:77058406:77059523:7705962677058218:77058406
exon_skip_176965chr1377288161:77288376:77296599:77296674:77326474:7732654077296599:77296674
exon_skip_191829chr1377098885:77099013:77103209:77103310:77118340:7711839677103209:77103310
exon_skip_211813chr1377270031:77270063:77270296:77270538:77273472:7727351177270296:77270538
exon_skip_21425chr1377288161:77288376:77296599:77296674:77326474:7732667977296599:77296674
exon_skip_219067chr1377225435:77225554:77233156:77233263:77243059:7724316077233156:77233263
exon_skip_242586chr1377096312:77096481:77097370:77099013:77121373:7712149577097370:77099013
exon_skip_243579chr1377140047:77140163:77140846:77140943:77144445:7714456077140846:77140943
exon_skip_243636chr1377070631:77070711:77076751:77076849:77077148:7707738777076751:77076849
exon_skip_251993chr1377126452:77126542:77129156:77129230:77139196:7713933677129156:77129230
exon_skip_264899chr1377098885:77099013:77118340:77118519:77121373:7712139277118340:77118519
exon_skip_272991chr1377098885:77099013:77118340:77118519:77121373:7712149577118340:77118519
exon_skip_30648chr1377270296:77270538:77272323:77272399:77273472:7727351177272323:77272399
exon_skip_31819chr1377211956:77212160:77217840:77217957:77224451:7722453277217840:77217957
exon_skip_32556chr1377273472:77273668:77278758:77278911:77288161:7728837677278758:77278911
exon_skip_48320chr1377087484:77087633:77088832:77089031:77090106:7709026377088832:77089031
exon_skip_66489chr1377051811:77051918:77055558:77055767:77056986:7705709377055558:77055767
exon_skip_7719chr1377126318:77126542:77129156:77129230:77139196:7713933677129156:77129230
exon_skip_79940chr1377270398:77270538:77272323:77272399:77273472:7727351177272323:77272399
exon_skip_9502chr1377087535:77087633:77088832:77089031:77090106:7709026377088832:77089031

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_130300MSBB_PG5.017600e-013.751852e-011.265748e-012.007674e-06
exon_skip_251993MSBB_PG5.094400e-016.251923e-01-1.157523e-011.225577e-02


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Open reading frame (ORF) annotation in the exon skipping event for MYCBP2

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
ENST000003573377714084677140943Frame-shift
ENST000005444407714084677140943Frame-shift
ENST000003573377721784077217957Frame-shift
ENST000005444407721784077217957Frame-shift
ENST000003573377727875877278911Frame-shift
ENST000005444407727875877278911Frame-shift
ENST000003573377729659977296674Frame-shift
ENST000003573377705821877058406In-frame
ENST000005444407705821877058406In-frame
ENST000003573377707675177076849In-frame
ENST000005444407707675177076849In-frame
ENST000003573377709737077099013In-frame
ENST000005444407709737077099013In-frame
ENST000003573377712631877126542In-frame
ENST000005444407712631877126542In-frame
ENST000003573377718170177181922In-frame
ENST000005444407718170177181922In-frame
ENST000003573377723315677233263In-frame
ENST000005444407723315677233263In-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
ENST000003573377714084677140943Frame-shift
ENST000005444407714084677140943Frame-shift
ENST000003573377721784077217957Frame-shift
ENST000005444407721784077217957Frame-shift
ENST000003573377727875877278911Frame-shift
ENST000005444407727875877278911Frame-shift
ENST000003573377729659977296674Frame-shift
ENST000003573377705821877058406In-frame
ENST000005444407705821877058406In-frame
ENST000003573377707675177076849In-frame
ENST000005444407707675177076849In-frame
ENST000003573377709737077099013In-frame
ENST000005444407709737077099013In-frame
ENST000003573377712631877126542In-frame
ENST000005444407712631877126542In-frame
ENST000003573377723315677233263In-frame
ENST000005444407723315677233263In-frame
ENST000003573377727029677270538In-frame
ENST000005444407727029677270538In-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
ENST000003573377708883277089031Frame-shift
ENST000005444407708883277089031Frame-shift
ENST000003573377714084677140943Frame-shift
ENST000005444407714084677140943Frame-shift
ENST000003573377716190677161955Frame-shift
ENST000005444407716190677161955Frame-shift
ENST000003573377721784077217957Frame-shift
ENST000005444407721784077217957Frame-shift
ENST000003573377727875877278911Frame-shift
ENST000005444407727875877278911Frame-shift
ENST000003573377729659977296674Frame-shift
ENST000003573377705555877055767In-frame
ENST000005444407705555877055767In-frame
ENST000003573377705821877058406In-frame
ENST000005444407705821877058406In-frame
ENST000003573377706166277061790In-frame
ENST000005444407706166277061790In-frame
ENST000003573377707675177076849In-frame
ENST000005444407707675177076849In-frame
ENST000003573377709737077099013In-frame
ENST000005444407709737077099013In-frame
ENST000003573377712631877126542In-frame
ENST000005444407712631877126542In-frame
ENST000003573377723315677233263In-frame
ENST000005444407723315677233263In-frame

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Infer the effects of exon skipping event on protein functional features for MYCBP2

p-ENSG00000005810_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 MYCBP2

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

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SNVs in the skipped exons for MYCBP2

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 MYCBP2

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
ADstageMSBBIFGexon_skip_1909243.844553e-014.338491e-02chr13-770988857709901377118340771184957712137377121495

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYCBP2

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 MYCBP2

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBTARDBPexon_skip_190924-4.522755e-011.264701e-08
CBZNF638exon_skip_190924-5.793801e-012.786244e-14
CBRBM6exon_skip_190924-4.797216e-011.174890e-09
CBCNOT4exon_skip_190924-4.585918e-017.455742e-09
CBPCBP4exon_skip_1909244.642012e-014.620969e-09
CBPTBP1exon_skip_190924-4.464532e-012.039137e-08
CBZNF638exon_skip_272991-5.408499e-018.939136e-12
CBRBM6exon_skip_1303004.135461e-015.092629e-07
CBHNRNPDLexon_skip_130300-4.119093e-015.705284e-07
CBNUP42exon_skip_130300-4.907939e-011.139187e-09
CBPTBP1exon_skip_1303005.165398e-011.038794e-10
CBTIA1exon_skip_77195.486855e-014.664190e-12
CBNUP42exon_skip_77196.613742e-011.886603e-18
CBSRSF9exon_skip_77194.009500e-011.316736e-06
FLHNRNPH2exon_skip_130300-4.275858e-016.181335e-10
FLILF2exon_skip_77194.206357e-012.048044e-09
FLRALYLexon_skip_77194.017275e-011.207941e-08
FLPTBP1exon_skip_7719-4.114563e-014.914453e-09
FLHNRNPH2exon_skip_77194.750112e-016.469489e-12
FLELAVL4exon_skip_219067-5.697987e-011.939212e-18
FLKHDRBS3exon_skip_219067-5.107569e-011.498051e-14
FLRALYLexon_skip_219067-5.044734e-013.519316e-14
FLNOVA1exon_skip_219067-4.053864e-013.132307e-09
HCCMSI1exon_skip_1303005.922505e-013.397351e-26
HCCSFPQexon_skip_1303004.853535e-016.867588e-17
HCCRBM6exon_skip_1303005.284972e-012.979741e-20
HCCSRSF11exon_skip_1303004.024646e-011.271554e-11
HCCKHDRBS2exon_skip_130300-4.521452e-011.319306e-14
HCCKHDRBS3exon_skip_1303004.021113e-011.329993e-11
HCCEIF4G2exon_skip_1303004.814058e-011.322551e-16
HCCPTBP1exon_skip_1303006.141560e-011.477436e-28
HCCSRSF4exon_skip_1303004.554304e-018.041229e-15
HCCHNRNPFexon_skip_1303005.340718e-011.008746e-20
HCCZNF326exon_skip_7719-5.364603e-017.483137e-21
HCCU2AF2exon_skip_7719-4.216789e-011.125102e-12
HCCTIA1exon_skip_7719-4.549383e-019.746457e-15
HCCRBM5exon_skip_7719-5.746451e-012.458236e-24
HCCKHDRBS3exon_skip_7719-4.113994e-014.407965e-12
HCCFUBP1exon_skip_7719-4.399438e-018.841735e-14
HCCRALYexon_skip_7719-4.965654e-011.176173e-17
HCCPTBP1exon_skip_7719-6.286395e-014.109974e-30
HCCHNRNPFexon_skip_7719-5.320945e-011.756798e-20
HCCRBMS2exon_skip_2190675.638780e-013.181391e-23
HCCRBM6exon_skip_2190674.638190e-012.834716e-15
HCCSAMD4Aexon_skip_2190674.899813e-014.162243e-17
HCCRALYLexon_skip_219067-4.389610e-011.134940e-13
IFGRBM24exon_skip_1909244.849678e-018.905454e-03
IFGRBM6exon_skip_1303004.085060e-013.091055e-02
IFGIGF2BP2exon_skip_1303004.492914e-011.646216e-02
IFGFXR2exon_skip_130300-5.078900e-015.795303e-03
IFGILF2exon_skip_130300-5.415654e-012.916855e-03
IFGKHDRBS3exon_skip_130300-6.186576e-014.493890e-04
IFGPTBP1exon_skip_1303005.844439e-011.091313e-03
IFGHNRNPLexon_skip_130300-4.186570e-012.660240e-02
IFGHNRNPH2exon_skip_130300-6.049401e-016.491559e-04
IFGESRP1exon_skip_130300-4.276671e-012.319954e-02
IFGTIA1exon_skip_7719-4.744018e-011.075363e-02
IFGPTBP1exon_skip_7719-4.810566e-019.555764e-03
IFGESRP2exon_skip_7719-4.486605e-011.663277e-02
IFGELAVL4exon_skip_219067-6.674007e-011.046532e-04
IFGFXR2exon_skip_219067-5.438670e-012.775938e-03
IFGKHDRBS3exon_skip_219067-5.328083e-013.510565e-03
IFGRALYLexon_skip_219067-6.123402e-015.334486e-04
IFGNOVA1exon_skip_219067-4.689132e-011.183375e-02
PCCMSI1exon_skip_1303005.029721e-011.216071e-13
PCCPTBP1exon_skip_1303005.209182e-011.117311e-14
PCCESRP2exon_skip_1303004.056852e-015.808521e-09
PCCHNRNPFexon_skip_1303004.159601e-012.172477e-09
PCCRALYLexon_skip_77195.197367e-011.313173e-14
PCCPTBP1exon_skip_7719-5.667162e-011.278419e-17
PCCRBMS2exon_skip_2190675.975642e-012.334638e-20
PCCELAVL4exon_skip_219067-6.262793e-019.557545e-23
PCCSAMD4Aexon_skip_2190674.439915e-017.114970e-11
PCCFXR2exon_skip_219067-4.033190e-014.594626e-09
PCCRALYLexon_skip_219067-6.458202e-011.614830e-24
PCCCPEB1exon_skip_219067-5.160858e-019.808308e-15
PCCNOVA1exon_skip_219067-4.463419e-015.495917e-11
PGFXR2exon_skip_130300-4.415759e-016.113343e-10
PGKHDRBS2exon_skip_130300-4.784211e-011.257952e-11
PGKHDRBS3exon_skip_130300-5.019525e-018.171128e-13
PGPTBP1exon_skip_1303004.068645e-011.588034e-08
PGHNRNPH2exon_skip_130300-4.840078e-016.697425e-12
PGNOVA1exon_skip_130300-4.091975e-011.290422e-08
PGELAVL4exon_skip_219067-7.215844e-019.735201e-35
PGFXR2exon_skip_219067-4.805087e-012.055749e-13
PGPCBP1exon_skip_219067-4.508265e-018.300708e-12
PGKHDRBS3exon_skip_219067-5.978435e-011.516824e-21
PGRALYLexon_skip_219067-6.199571e-011.780142e-23
PGCPEB1exon_skip_219067-4.434127e-011.980030e-11
PGNOVA1exon_skip_219067-4.399984e-012.934303e-11
STGMSI1exon_skip_1303004.548655e-011.223118e-05
STGIGF2BP2exon_skip_1303004.002798e-011.472006e-04
STGPCBP1exon_skip_130300-4.267809e-014.639563e-05
STGKHDRBS3exon_skip_130300-4.183414e-016.772146e-05
STGHNRNPH2exon_skip_130300-4.508103e-011.493676e-05
STGESRP2exon_skip_1303004.037335e-011.273245e-04
STGNOVA1exon_skip_130300-4.458926e-011.896858e-05
STGILF2exon_skip_77194.534946e-011.476891e-05
STGKHDRBS3exon_skip_77195.152258e-015.310011e-07
STGHNRNPCexon_skip_77194.463291e-012.087097e-05
STGRALYLexon_skip_77195.375666e-011.344515e-07
STGHNRNPLexon_skip_77194.195100e-017.122994e-05
STGHNRNPH2exon_skip_77194.848403e-012.958867e-06
STGEIF4Bexon_skip_77194.156367e-018.433641e-05
STGZCRB1exon_skip_77194.116864e-019.997916e-05
STGELAVL4exon_skip_219067-6.382298e-011.009940e-11
STGKHDRBS3exon_skip_219067-4.758506e-011.869242e-06
STGRALYLexon_skip_219067-5.812879e-011.527411e-09
STGNOVA1exon_skip_219067-4.830770e-011.235249e-06
TCRALYLexon_skip_1909244.021651e-016.396469e-07
TCRBM24exon_skip_2729914.178775e-014.152453e-07
TCMSI1exon_skip_1303004.993230e-016.100935e-10
TCIGF2BP2exon_skip_1303004.044602e-011.041881e-06
TCKHDRBS2exon_skip_130300-7.247360e-011.986920e-23
TCKHDRBS3exon_skip_130300-6.049761e-016.174932e-15
TCNUP42exon_skip_130300-5.441860e-017.519488e-12
TCPTBP1exon_skip_1303005.892996e-014.450398e-14
TCCELF1exon_skip_130300-4.100874e-017.118299e-07
TCHNRNPH2exon_skip_130300-5.643750e-018.333364e-13
TCESRP1exon_skip_130300-5.410604e-011.043436e-11
TCHNRNPFexon_skip_1303004.522887e-013.243608e-08
TCNOVA1exon_skip_130300-6.006220e-011.080370e-14
TCRBM25exon_skip_77194.394120e-011.356208e-07
TCMBNL1exon_skip_77194.214932e-014.827325e-07
TCILF2exon_skip_77195.017701e-018.841003e-10
TCKHDRBS3exon_skip_77196.265475e-019.329703e-16
TCRBM24exon_skip_77196.102042e-018.034350e-15
TCHNRNPA0exon_skip_77196.538445e-011.901704e-17
TCNUP42exon_skip_77196.458944e-016.155317e-17
TCRALYLexon_skip_77196.765637e-015.414773e-19
TCPTBP1exon_skip_7719-4.878771e-012.965092e-09
TCCPEB4exon_skip_77194.212925e-014.894467e-07
TCHNRNPH2exon_skip_77196.934771e-013.092894e-20
TCESRP1exon_skip_77195.686803e-011.133248e-12
TCRBMS2exon_skip_2190675.540374e-017.079190e-13
TCELAVL4exon_skip_219067-6.739157e-012.866495e-20
TCFXR2exon_skip_219067-4.660129e-014.481859e-09
TCKHDRBS3exon_skip_219067-5.989594e-012.749209e-15
TCRALYLexon_skip_219067-6.906780e-011.368572e-21
TCCPEB1exon_skip_219067-4.092964e-013.861599e-07
TCNOVA1exon_skip_219067-5.749637e-015.923527e-14

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RelatedDrugs for MYCBP2

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 MYCBP2

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