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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 FAM135B

check button Gene summary
Gene informationGene symbol

FAM135B

Gene ID

51059

Gene namefamily with sequence similarity 135 member B
SynonymsC8ORFK32
Cytomap

8q24.23

Type of geneprotein-coding
Descriptionprotein FAM135B
Modification date20200313
UniProtAcc

E5RFQ7,

E5RH68,

H0YBQ7,

J3QSR3,

Q49AJ0,

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 FAM135B

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

ENSG00000147724
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
PGDOWNENST00000517849.1FAM135B-207:lncRNA:FAM135B1.021805e+00-8.602386e-013.700158e-047.132041e-03
CBUPENST00000467365.1FAM135B-205:nonsense_mediated_decay:FAM135B9.035493e+001.198733e+001.705007e-073.331615e-06

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 FAM135B

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_114184chr8138151194:138153216:138167895:138168049:138177347:138177420138167895:138168049
exon_skip_125998chr8138242942:138243068:138250841:138251014:138256689:138256759138250841:138251014
exon_skip_136386chr8138250924:138251014:138256689:138256759:138265703:138265842138256689:138256759
exon_skip_155833chr8138250924:138251014:138256689:138256759:138265703:138265835138256689:138256759
exon_skip_202586chr8138141208:138141349:138143012:138143109:138145959:138146050138143012:138143109
exon_skip_27062chr8138197516:138197669:138242942:138243068:138250841:138251014138242942:138243068
exon_skip_285559chr8138265819:138265842:138310841:138310920:138367907:138368002138310841:138310920
exon_skip_59729chr8138141198:138141349:138143012:138143109:138145959:138146050138143012:138143109
exon_skip_61490chr8138310841:138310920:138367907:138368002:138496671:138496822138367907:138368002
exon_skip_65655chr8138310841:138310920:138358338:138358560:138367907:138368002138358338:138358560

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 FAM135B

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
ENST00000395297138143012138143109Frame-shift
ENST00000395297138242942138243068Frame-shift
ENST00000395297138256689138256759Frame-shift
ENST00000395297138310841138310920Frame-shift
ENST00000395297138250841138251014In-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
ENST00000395297138143012138143109Frame-shift
ENST00000395297138256689138256759Frame-shift
ENST00000395297138310841138310920Frame-shift
ENST00000395297138250841138251014In-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
ENST00000395297138143012138143109Frame-shift
ENST00000395297138167895138168049Frame-shift
ENST00000395297138242942138243068Frame-shift
ENST00000395297138256689138256759Frame-shift
ENST00000395297138310841138310920Frame-shift
ENST00000395297138250841138251014In-frame

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Infer the effects of exon skipping event on protein functional features for FAM135B

p-ENSG00000147724_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
ENST0000039529769791406138250841138251014540712123180

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
ENST0000039529769791406138250841138251014540712123180

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
ENST0000039529769791406138250841138251014540712123180

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
Q49AJ012318011406ChainID=PRO_0000314171;Note=Protein FAM135B

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
Q49AJ012318011406ChainID=PRO_0000314171;Note=Protein FAM135B

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
Q49AJ012318011406ChainID=PRO_0000314171;Note=Protein FAM135B


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3'-UTR located exon skipping events that lost miRNA binding sites in FAM135B

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 FAM135B

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 FAM135B

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 FAM135B

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 FAM135B

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBTRA2Aexon_skip_202586-4.443310e-015.999061e-08

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RelatedDrugs for FAM135B

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 FAM135B

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