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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 FRY

check button Gene summary
Gene informationGene symbol

FRY

Gene ID

10129

Gene nameFRY microtubule binding protein
Synonyms13CDNA73|214K23.2|C13orf14|CG003|bA207N4.2|bA37E23.1
Cytomap

13q13.1

Type of geneprotein-coding
Descriptionprotein furry homologWUGSC:H_2G3A.1furry homolog
Modification date20200313
UniProtAcc

A0A024RDQ1,

A0A0C4DFX2,

A0A286YFA9,

A0A2R8Y5V8,

A0A2R8Y7Y8,

A0A2R8YCY2,

B1ALA1,

H0YE00,

L8EB55,

Q5TBA9,

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 FRY

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

ENSG00000073910
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
PGUPENST00000418076.1FRY-203:lncRNA:FRY9.705823e-011.551407e+004.392278e-048.053017e-03
CBUPENST00000428783.1FRY-204:lncRNA:FRY9.002103e+001.175114e+001.192114e-048.593658e-04
TCUPENST00000641614.1FRY-211:retained_intron:FRY3.206585e+018.467839e-014.773795e-061.434508e-04

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 FRY

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_158003chr1332124286:32124376:32124602:32124681:32124795:3212487532124602:32124681
exon_skip_159282chr1332278465:32278548:32289633:32289743:32294368:3229457032289633:32289743
exon_skip_163709chr1332194143:32194297:32201941:32202040:32202356:3220252732201941:32202040
exon_skip_16661chr1332078834:32079033:32101963:32102016:32117334:3211747032101963:32102016
exon_skip_170384chr1332178844:32179033:32179675:32179799:32182977:3218303432179675:32179799
exon_skip_172037chr1332234574:32234761:32236078:32236172:32237379:3223798632236078:32236172
exon_skip_175765chr1332254224:32254394:32257964:32257972:32261616:3226177532257964:32257972
exon_skip_187044chr1332031774:32031865:32078834:32079033:32101963:3210201632078834:32079033
exon_skip_188105chr1332136871:32136972:32147282:32147385:32147839:3214794732147282:32147385
exon_skip_189463chr1332239711:32239881:32244042:32244182:32247323:3224750232244042:32244182
exon_skip_195286chr1332254224:32254394:32257964:32257972:32261616:3226181632257964:32257972
exon_skip_209223chr1332267243:32267359:32274842:32274991:32276464:3227656232274842:32274991
exon_skip_233407chr1332147282:32147385:32147839:32147947:32149748:3214983432147839:32147947
exon_skip_246100chr1332228456:32228654:32231179:32231300:32234574:3223476132231179:32231300
exon_skip_258256chr1332135085:32135183:32136871:32136972:32147282:3214738532136871:32136972
exon_skip_262647chr1332124795:32124875:32131672:32131840:32134904:3213499632131672:32131840
exon_skip_424chr1332173367:32173549:32175546:32175632:32178177:3217843632175546:32175632
exon_skip_98167chr1331846841:31846939:31941308:31941366:31946009:3194618131941308:31941366

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_195286MSBB_PG6.545378e-018.197959e-01-1.652581e-018.473358e-03
exon_skip_175765Mayo_TC4.043902e-015.095890e-01-1.051988e-016.234920e-03
exon_skip_194286Mayo_TC5.743902e-017.025352e-01-1.281450e-018.091653e-05


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

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
ENST000005428593207883432079033Frame-shift
ENST000005428593223607832236172Frame-shift
ENST000005428593210196332102016In-frame
ENST000005428593217554632175632In-frame
ENST000005428593224404232244182In-frame
ENST000005428593227484232274991In-frame
ENST000005428593228963332289743In-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
ENST000005428593214728232147385Frame-shift
ENST000005428593224404232244182In-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
ENST000005428593212460232124681Frame-shift
ENST000005428593213167232131840Frame-shift
ENST000005428593214728232147385Frame-shift
ENST000005428593214783932147947Frame-shift
ENST000005428593217967532179799Frame-shift
ENST000005428593220194132202040Frame-shift
ENST000005428593223117932231300Frame-shift
ENST000005428593223607832236172Frame-shift
ENST000005428593213687132136972In-frame
ENST000005428593217554632175632In-frame
ENST000005428593224404232244182In-frame
ENST000005428593227484232274991In-frame
ENST000005428593228963332289743In-frame

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

p-ENSG00000073910_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
ENST00000542859132173013321019633210201676882090108
ENST00000542859132173013321755463217563228322917778807
ENST0000054285913217301332244042322441827185732422292276
ENST0000054285913217301332274842322749918634878227122762
ENST0000054285913217301332289633322897438967907628232860

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
ENST0000054285913217301332244042322441827185732422292276

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
ENST00000542859132173013321368713213697215751675359393
ENST00000542859132173013321755463217563228322917778807
ENST0000054285913217301332244042322441827185732422292276
ENST0000054285913217301332274842322749918634878227122762
ENST0000054285913217301332289633322897438967907628232860

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
Q5TBA99010813013ChainID=PRO_0000281674;Note=Protein furry homolog
Q5TBA977880713013ChainID=PRO_0000281674;Note=Protein furry homolog
Q5TBA92229227613013ChainID=PRO_0000281674;Note=Protein furry homolog
Q5TBA92712276213013ChainID=PRO_0000281674;Note=Protein furry homolog
Q5TBA92823286013013ChainID=PRO_0000281674;Note=Protein furry homolog

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
Q5TBA92229227613013ChainID=PRO_0000281674;Note=Protein furry homolog

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
Q5TBA935939313013ChainID=PRO_0000281674;Note=Protein furry homolog
Q5TBA977880713013ChainID=PRO_0000281674;Note=Protein furry homolog
Q5TBA92229227613013ChainID=PRO_0000281674;Note=Protein furry homolog
Q5TBA92712276213013ChainID=PRO_0000281674;Note=Protein furry homolog
Q5TBA92823286013013ChainID=PRO_0000281674;Note=Protein furry homolog


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

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 FRY

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 FRY

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
CDRMSBBIFGexon_skip_195286-3.828831e-014.432228e-02chr13+322542243225439432257964322579723226161632261816

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

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 FRY

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
HCCHNRNPFexon_skip_195286-5.683695e-011.377604e-24
HCCUNKexon_skip_194286-5.823144e-016.580975e-26
PCCHNRNPFexon_skip_195286-5.803730e-012.651518e-20
TCNUP42exon_skip_1942866.664296e-015.371182e-21

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RelatedDrugs for FRY

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 FRY

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