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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 KIAA1755

check button Gene summary
Gene informationGene symbol

KIAA1755

Gene ID

85449

Gene nameKIAA1755
Synonyms-
Cytomap

20q11.23

Type of geneprotein-coding
Descriptionuncharacterized protein KIAA1755RP5-1054A22.3
Modification date20200313
UniProtAcc

A0A087WWV7,

A0A087X0C1,

Q5JYT7,

Q5JYT8,

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 KIAA1755

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

ENSG00000149633
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
CBDOWNENST00000484362.1KIAA1755-204:retained_intron:KIAA17559.892629e+01-9.928927e-016.386162e-103.024500e-08
CBDOWNENST00000487506.1KIAA1755-205:retained_intron:KIAA17556.714491e+01-1.213879e+002.332832e-074.352567e-06
TCDOWNENST00000487506.1KIAA1755-205:retained_intron:KIAA17551.379705e+02-8.177923e-011.490925e-053.560516e-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 KIAA1755

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_137890chr2038218244:38218366:38219630:38219768:38222449:3822259738219630:38219768
exon_skip_138203chr2038212476:38213743:38217253:38217474:38218244:3821836638217253:38217474
exon_skip_141784chr2038212476:38213743:38216860:38217005:38217253:3821747438216860:38217005
exon_skip_197738chr2038225665:38225781:38227154:38227240:38228147:3822824038227154:38227240
exon_skip_220759chr2038241425:38241929:38245929:38246126:38260498:3826073538245929:38246126
exon_skip_226224chr2038219630:38219768:38222449:38222597:38223538:3822363638222449:38222597
exon_skip_23294chr2038212476:38213743:38216860:38217005:38217253:3821818338216860:38217005
exon_skip_249672chr2038225684:38225781:38227154:38227240:38228147:3822824038227154:38227240
exon_skip_253384chr2038212476:38213743:38217253:38217474:38218244:3821836138217253:38217474
exon_skip_59280chr2038223538:38223636:38225665:38225781:38227154:3822721938225665:38225781
exon_skip_81556chr2038240582:38241929:38245929:38246126:38260498:3826073538245929:38246126
exon_skip_85804chr2038239528:38239725:38240582:38241929:38245929:3824612638240582:38241929

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_52965Mayo_CB5.204545e-017.061194e-01-1.856649e-011.008277e-02
exon_skip_52965Mayo_TC5.448780e-016.684416e-01-1.235635e-014.281263e-05


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Open reading frame (ORF) annotation in the exon skipping event for KIAA1755

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
ENST000002790243821963038219768Frame-shift
ENST000002790243822244938222597Frame-shift
ENST000002790243821725338217474In-frame
ENST000002790243822566538225781In-frame
ENST000002790243822715438227240In-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
ENST000002790243822244938222597Frame-shift
ENST000002790243821725338217474In-frame
ENST000002790243822566538225781In-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
ENST000002790243822244938222597Frame-shift
ENST000002790243824058238241929Frame-shift
ENST000002790243821725338217474In-frame
ENST000002790243822566538225781In-frame
ENST000002790243822715438227240In-frame

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Infer the effects of exon skipping event on protein functional features for KIAA1755

p-ENSG00000149633_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
ENST0000027902464461200382271543822724022382323655683
ENST0000027902464461200382256653822578123252440684722
ENST0000027902464461200382172533821747429523172893966

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
ENST0000027902464461200382256653822578123252440684722
ENST0000027902464461200382172533821747429523172893966

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
ENST0000027902464461200382271543822724022382323655683
ENST0000027902464461200382256653822578123252440684722
ENST0000027902464461200382172533821747429523172893966

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
Q5JYT765568311200ChainID=PRO_0000317284;Note=Uncharacterized protein KIAA1755
Q5JYT768472211200ChainID=PRO_0000317284;Note=Uncharacterized protein KIAA1755
Q5JYT789396611200ChainID=PRO_0000317284;Note=Uncharacterized protein KIAA1755
Q5JYT7893966940940Natural variantID=VAR_038504;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11214970;Dbxref=dbSNP:rs760998,PMID:11214970

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
Q5JYT768472211200ChainID=PRO_0000317284;Note=Uncharacterized protein KIAA1755
Q5JYT789396611200ChainID=PRO_0000317284;Note=Uncharacterized protein KIAA1755
Q5JYT7893966940940Natural variantID=VAR_038504;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11214970;Dbxref=dbSNP:rs760998,PMID:11214970

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
Q5JYT765568311200ChainID=PRO_0000317284;Note=Uncharacterized protein KIAA1755
Q5JYT768472211200ChainID=PRO_0000317284;Note=Uncharacterized protein KIAA1755
Q5JYT789396611200ChainID=PRO_0000317284;Note=Uncharacterized protein KIAA1755
Q5JYT7893966940940Natural variantID=VAR_038504;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11214970;Dbxref=dbSNP:rs760998,PMID:11214970


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3'-UTR located exon skipping events that lost miRNA binding sites in KIAA1755

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 KIAA1755

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 KIAA1755

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 KIAA1755

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 KIAA1755

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBTARDBPexon_skip_52965-4.232347e-013.864402e-07
CBPCBP1exon_skip_52965-4.443708e-018.408362e-08
CBRBM45exon_skip_529654.897424e-012.196331e-09
CBHNRNPFexon_skip_52965-4.425932e-019.597669e-08

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RelatedDrugs for KIAA1755

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 KIAA1755

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