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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 ANKRD36

check button Gene summary
Gene informationGene symbol

ANKRD36

Gene ID

375248

Gene nameankyrin repeat domain 36
SynonymsUNQ2430
Cytomap

2q11.2

Type of geneprotein-coding
Descriptionankyrin repeat domain-containing protein 36Aankyrin repeat domain-containing protein 36ankyrin-related
Modification date20200313
UniProtAcc

A0A087X037,

A0A1W2PS33,

A1A5B0,

A2VCN4,

A6QL64,

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 ANKRD36

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

ENSG00000135976
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
CBUPENST00000461153.7ANKRD36-204:protein_coding:ANKRD365.392953e+011.076797e+001.949698e-039.032266e-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 ANKRD36

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_104573chr297196593:97196621:97196716:97196788:97198463:9719849197196716:97196788
exon_skip_113220chr297122887:97122993:97124460:97124597:97127067:9712713497124460:97124597
exon_skip_115607chr297179738:97179766:97179861:97179933:97181598:9718162697179861:97179933
exon_skip_123955chr297200334:97200362:97200453:97200525:97202202:9720223097200453:97200525
exon_skip_140136chr297158591:97158655:97162099:97162138:97164283:9716431197162099:97162138
exon_skip_152478chr297219050:97219078:97219174:97219246:97224809:9722487997219174:97219246
exon_skip_15852chr297183459:97183487:97183582:97183654:97185316:9718534497183582:97183654
exon_skip_163223chr297207811:97207839:97207934:97208006:97209681:9720970997207934:97208006
exon_skip_175510chr297144640:97144712:97146486:97146516:97149295:9714936197146486:97146516
exon_skip_182716chr297158107:97158167:97158588:97158655:97162099:9716213897158588:97158655
exon_skip_183229chr297205940:97205968:97206063:97206135:97207811:9720783997206063:97206135
exon_skip_186725chr297164283:97164311:97164397:97164469:97167577:9716760597164397:97164469
exon_skip_19225chr297211669:97211741:97213419:97213447:97213542:9721361497213419:97213447
exon_skip_193285chr297144518:97144546:97144640:97144712:97146486:9714651697144640:97144712
exon_skip_198249chr297142640:97142668:97142763:97142835:97144518:9714454697142763:97142835
exon_skip_198650chr297192858:97192886:97192981:97193053:97194726:9719475397192981:97193053
exon_skip_20061chr297118344:97118517:97122887:97122993:97124460:9712459797122887:97122993
exon_skip_211947chr297198463:97198491:97198586:97198658:97200334:9720036297198586:97198658
exon_skip_219359chr297192869:97192886:97192981:97193053:97194726:9719475497192981:97193053
exon_skip_235660chr297202213:97202230:97202321:97202393:97204068:9720409697202321:97202393
exon_skip_241487chr297219050:97219078:97219174:97219246:97224806:9722487997219174:97219246
exon_skip_253726chr297209681:97209709:97209800:97209872:97211546:9721157497209800:97209872
exon_skip_264784chr297249552:97249645:97250144:97250173:97264329:9726443497250144:97250173
exon_skip_265212chr297181598:97181626:97181721:97181793:97183459:9718348797181721:97181793
exon_skip_267213chr297241266:97241479:97243846:97244029:97245157:9724607197243846:97244029
exon_skip_275650chr297241266:97241479:97243846:97244029:97245157:9724564097243846:97244029
exon_skip_277929chr297192858:97192886:97192981:97193053:97194726:9719475497192981:97193053
exon_skip_278053chr297149295:97149361:97151879:97151939:97152504:9715253497151879:97151939
exon_skip_280719chr297224809:97224879:97233730:97233871:97241266:9724147997233730:97233871
exon_skip_281809chr297194726:97194754:97194845:97194917:97196593:9719662197194845:97194917
exon_skip_284528chr297204068:97204096:97204191:97204263:97205940:9720596897204191:97204263
exon_skip_39839chr297158588:97158655:97162099:97162138:97164283:9716431197162099:97162138
exon_skip_57078chr297154675:97154741:97158107:97158167:97158588:9715865597158107:97158167
exon_skip_68590chr297202202:97202230:97202321:97202393:97204068:9720409697202321:97202393
exon_skip_88958chr297247480:97247628:97249144:97249214:97249552:9724964597249144:97249214

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_198249MSBB_PG4.805469e-015.918000e-01-1.112531e-011.329257e-02
exon_skip_201013Mayo_CB8.257333e-019.666071e-01-1.408738e-011.361631e-07
exon_skip_88958Mayo_CB5.079268e-017.207895e-01-2.128626e-011.375041e-06
exon_skip_233833Mayo_CB5.833750e-013.860000e-011.973750e-012.525651e-06


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Open reading frame (ORF) annotation in the exon skipping event for ANKRD36

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
ENST000004206999712288797122993Frame-shift
ENST000004206999714276397142835Frame-shift
ENST000004206999714464097144712Frame-shift
ENST000004206999714648697146516Frame-shift
ENST000004206999716209997162138Frame-shift
ENST000004206999716439797164469Frame-shift
ENST000004206999717986197179933Frame-shift
ENST000004206999718358297183654Frame-shift
ENST000004206999719298197193053Frame-shift
ENST000004206999719484597194917Frame-shift
ENST000004206999719671697196788Frame-shift
ENST000004206999719858697198658Frame-shift
ENST000004206999720045397200525Frame-shift
ENST000004206999720232197202393Frame-shift
ENST000004206999720419197204263Frame-shift
ENST000004206999720606397206135Frame-shift
ENST000004206999720793497208006Frame-shift
ENST000004206999720980097209872Frame-shift
ENST000004206999721341997213447Frame-shift
ENST000004206999721917497219246Frame-shift
ENST000004206999723373097233871Frame-shift
ENST000004206999724384697244029Frame-shift
ENST000004206999724914497249214Frame-shift
ENST000004206999712446097124597In-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
ENST0000042069997250144972501733UTR-3CDS
ENST000004206999714276397142835Frame-shift
ENST000004206999714464097144712Frame-shift
ENST000004206999714648697146516Frame-shift
ENST000004206999715187997151939Frame-shift
ENST000004206999716209997162138Frame-shift
ENST000004206999716439797164469Frame-shift
ENST000004206999717986197179933Frame-shift
ENST000004206999718172197181793Frame-shift
ENST000004206999718358297183654Frame-shift
ENST000004206999719298197193053Frame-shift
ENST000004206999719484597194917Frame-shift
ENST000004206999719671697196788Frame-shift
ENST000004206999719858697198658Frame-shift
ENST000004206999720045397200525Frame-shift
ENST000004206999720232197202393Frame-shift
ENST000004206999720419197204263Frame-shift
ENST000004206999720606397206135Frame-shift
ENST000004206999720793497208006Frame-shift
ENST000004206999720980097209872Frame-shift
ENST000004206999721341997213447Frame-shift
ENST000004206999721917497219246Frame-shift
ENST000004206999723373097233871Frame-shift
ENST000004206999724384697244029Frame-shift
ENST000004206999724914497249214Frame-shift
ENST000004206999712446097124597In-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
ENST000004206999712288797122993Frame-shift
ENST000004206999714276397142835Frame-shift
ENST000004206999714464097144712Frame-shift
ENST000004206999714648697146516Frame-shift
ENST000004206999715187997151939Frame-shift
ENST000004206999715810797158167Frame-shift
ENST000004206999715858897158655Frame-shift
ENST000004206999716209997162138Frame-shift
ENST000004206999716439797164469Frame-shift
ENST000004206999717986197179933Frame-shift
ENST000004206999719298197193053Frame-shift
ENST000004206999719484597194917Frame-shift
ENST000004206999719671697196788Frame-shift
ENST000004206999719858697198658Frame-shift
ENST000004206999720045397200525Frame-shift
ENST000004206999720232197202393Frame-shift
ENST000004206999720419197204263Frame-shift
ENST000004206999720606397206135Frame-shift
ENST000004206999720793497208006Frame-shift
ENST000004206999720980097209872Frame-shift
ENST000004206999721341997213447Frame-shift
ENST000004206999723373097233871Frame-shift
ENST000004206999724384697244029Frame-shift
ENST000004206999724914497249214Frame-shift
ENST000004206999712446097124597In-frame

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Infer the effects of exon skipping event on protein functional features for ANKRD36

p-ENSG00000135976_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
ENST00000420699628619419712446097124597839975198243

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
ENST00000420699628619419712446097124597839975198243

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
ENST00000420699628619419712446097124597839975198243

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
A6QL6419824311149Alternative sequenceID=VSP_039656;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.6;Dbxref=PMID:10997877,PMID:15489334
A6QL641982431641941Alternative sequenceID=VSP_039658;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12975309,ECO:0000303|PubMed:15489334;Dbxref=PMID:12975309,PMID:15489334
A6QL641982431711941Alternative sequenceID=VSP_039660;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
A6QL6419824311941ChainID=PRO_0000334544;Note=Ankyrin repeat domain-containing protein 36A
A6QL64198243196225RepeatNote=ANK 6

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
A6QL6419824311149Alternative sequenceID=VSP_039656;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.6;Dbxref=PMID:10997877,PMID:15489334
A6QL641982431641941Alternative sequenceID=VSP_039658;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12975309,ECO:0000303|PubMed:15489334;Dbxref=PMID:12975309,PMID:15489334
A6QL641982431711941Alternative sequenceID=VSP_039660;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
A6QL6419824311941ChainID=PRO_0000334544;Note=Ankyrin repeat domain-containing protein 36A
A6QL64198243196225RepeatNote=ANK 6

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
A6QL6419824311149Alternative sequenceID=VSP_039656;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10997877,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.6;Dbxref=PMID:10997877,PMID:15489334
A6QL641982431641941Alternative sequenceID=VSP_039658;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12975309,ECO:0000303|PubMed:15489334;Dbxref=PMID:12975309,PMID:15489334
A6QL641982431711941Alternative sequenceID=VSP_039660;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
A6QL6419824311941ChainID=PRO_0000334544;Note=Ankyrin repeat domain-containing protein 36A
A6QL64198243196225RepeatNote=ANK 6


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3'-UTR located exon skipping events that lost miRNA binding sites in ANKRD36

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 ANKRD36

check button - Differential PSIs between mutated versus non-mutated samples.
ENSG00000135976.exon_skip_281809.MSBB_FL.WGS.boxplot.svg
boxplot
ENSG00000135976.exon_skip_281809.MSBB_PG.WGS.boxplot.svg
boxplot
ENSG00000135976.exon_skip_281809.MSBB_STG.WGS.boxplot.svg
boxplot

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 ANKRD36

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_281809-5.424787e-012.860221e-03chr2+971947269719475497194845971949179719659397196621
ADstageMSBBIFGexon_skip_267213-3.998028e-013.503763e-02chr2+972412669724147997243846972440299724515797246071
CDRMSBBIFGexon_skip_281809-4.475230e-011.694405e-02chr2+971947269719475497194845971949179719659397196621
CDRMSBBIFGexon_skip_267213-3.976138e-013.614237e-02chr2+972412669724147997243846972440299724515797246071

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKRD36

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
CBexon_skip_211947rs1257097chr2:970987131.554679e-053.796775e-03
TCexon_skip_284528rs11164114chr2:971811138.859780e-051.482779e-02
HCCexon_skip_211947rs1257097chr2:970987135.168775e-132.665676e-10
HCCexon_skip_211947rs11164114chr2:971811133.215181e-042.388193e-02
PCCexon_skip_211947rs1257097chr2:970987138.995551e-106.648140e-07
PCCexon_skip_211947rs11164114chr2:971811132.541809e-043.611632e-02
DLPFCexon_skip_211947rs1257097chr2:970987131.569216e-104.964519e-08
DLPFCexon_skip_211947rs11164114chr2:971811138.098071e-044.710960e-02

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Correlation with RNA binding proteins (RBPs) for ANKRD36

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBTRA2Aexon_skip_201129-4.969321e-011.013549e-09
CBNUP42exon_skip_2011294.565932e-012.939914e-08
CBTRA2Aexon_skip_198249-5.576630e-011.806857e-13
CBHNRNPDLexon_skip_1982494.356418e-013.133415e-08
CBNUP42exon_skip_1982494.355885e-013.146914e-08
CBPABPN1exon_skip_193285-4.150241e-011.726281e-07
CBELAVL1exon_skip_193285-4.273316e-016.736343e-08
CBCNOT4exon_skip_193285-5.749053e-012.638007e-14
CBFUBP1exon_skip_193285-4.893416e-013.187961e-10
CBNUP42exon_skip_1932854.204610e-011.144403e-07
CBCNOT4exon_skip_201013-5.382533e-013.344832e-11
CBTRA2Aexon_skip_201013-5.094805e-015.144958e-10
CBKHSRPexon_skip_201013-4.154995e-018.014428e-07
CBDAZAP1exon_skip_88958-4.176883e-014.754394e-08
CBCNOT4exon_skip_88958-5.544193e-014.106106e-14
CBRBM45exon_skip_889586.354775e-012.994966e-19
CBNUP42exon_skip_889584.709652e-014.239197e-10
FLFXR2exon_skip_1982494.334157e-014.205780e-10
FLG3BP2exon_skip_1982494.496241e-017.635336e-11
FLHNRNPA0exon_skip_1982494.899981e-017.216698e-13
HCCFUBP1exon_skip_198249-4.016304e-018.531751e-11
IFGHNRNPCexon_skip_801875.775046e-014.885845e-03
IFGIGF2BP3exon_skip_198249-4.033990e-013.692969e-02
IFGEWSR1exon_skip_1156074.528491e-012.301586e-02
IFGSRSF9exon_skip_2779294.294855e-013.214667e-02
IFGHNRNPA2B1exon_skip_280719-4.363983e-012.582357e-02
IFGSRSF1exon_skip_280719-5.000397e-019.287207e-03
PCCRBM3exon_skip_80187-4.466630e-012.610704e-10
STGSRSF9exon_skip_1867254.130166e-014.203637e-04
STGNOVA1exon_skip_1867254.097474e-014.717706e-04
TCHNRNPA0exon_skip_1982494.236933e-013.242175e-06

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RelatedDrugs for ANKRD36

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 ANKRD36

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