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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 MTIF3

check button Gene summary
Gene informationGene symbol

MTIF3

Gene ID

219402

Gene namemitochondrial translational initiation factor 3
SynonymsIF3mt
Cytomap

13q12.2

Type of geneprotein-coding
Descriptiontranslation initiation factor IF-3, mitochondrialIF-3(Mt)
Modification date20200320
UniProtAcc

A0A024RDQ7,

Q9H2K0,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
MTIF3

GO:0032790

ribosome disassembly

12095986

MTIF3

GO:0070124

mitochondrial translational initiation

12095986


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Gene structures and expression levels for MTIF3

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

ENSG00000122033
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
CBUPENST00000471771.5MTIF3-207:lncRNA:MTIF31.610554e+019.444511e-019.156345e-104.067567e-08
CBDOWNENST00000405591.3MTIF3-203:protein_coding:MTIF34.752580e+02-8.492582e-011.100467e-072.303906e-06
CBUPENST00000485959.5MTIF3-211:lncRNA:MTIF35.515142e+008.726308e-019.250608e-033.263103e-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 MTIF3

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_111157chr1327435684:27435893:27437116:27437273:27439989:2744005127437116:27437273
exon_skip_120168chr1327440281:27440449:27441017:27441077:27445088:2744513727441017:27441077
exon_skip_145894chr1327435684:27435893:27437116:27437273:27439989:2744016927437116:27437273
exon_skip_186717chr1327437269:27437273:27439989:27440449:27445088:2744513427439989:27440449
exon_skip_193172chr1327440281:27440449:27445088:27445156:27450509:2745056427445088:27445156
exon_skip_211088chr1327437269:27437273:27439989:27440449:27445088:2744513727439989:27440449
exon_skip_229103chr1327445088:27445156:27449852:27449918:27450064:2745014327449852:27449918
exon_skip_238816chr1327440281:27440449:27445088:27445156:27450064:2745013127445088:27445156
exon_skip_243452chr1327440402:27440449:27441017:27441077:27445088:2744513727441017:27441077
exon_skip_256452chr1327437269:27437273:27439989:27440449:27441017:2744107727439989:27440449
exon_skip_25799chr1327435684:27435893:27437116:27437273:27439989:2744044927437116:27437273
exon_skip_265487chr1327445088:27445156:27449852:27449918:27450064:2745013127449852:27449918
exon_skip_57550chr1327440281:27440449:27445088:27445137:27450064:2745013127445088:27445137
exon_skip_7950chr1327435684:27435893:27437116:27437273:27439989:2744014727437116:27437273
exon_skip_84871chr1327440281:27440449:27441017:27441077:27445088:2744513427441017:27441077
exon_skip_90106chr1327440281:27440449:27445088:27445137:27450509:2745056427445088:27445137

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 MTIF3

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
ENST0000038111627439989274404493UTR-3CDS
ENST0000038112027439989274404493UTR-3CDS
ENST0000038111627441017274410773UTR-3UTR
ENST0000038112027445088274451563UTR-3UTR
ENST000003811162743711627437273Frame-shift
ENST000003811202743711627437273Frame-shift
ENST000004055912743711627437273Frame-shift

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
ENST0000038112027439989274404493UTR-3CDS
ENST0000038111627441017274410773UTR-3UTR
ENST000003811162743711627437273Frame-shift
ENST000003811202743711627437273Frame-shift
ENST000004055912743711627437273Frame-shift

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
ENST0000038112027439989274404493UTR-3CDS
ENST0000038111627441017274410773UTR-3UTR
ENST000003811162743711627437273Frame-shift
ENST000003811202743711627437273Frame-shift
ENST000004055912743711627437273Frame-shift

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Infer the effects of exon skipping event on protein functional features for MTIF3

p-ENSG00000122033_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 MTIF3

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
MayoENST000003811162744101727441077hsa-miR-3605-5pchr13:27441050-274410578mer-1achr13:27441038-27441062178.00-27.19
MSBBENST000003811162744101727441077hsa-miR-3605-5pchr13:27441050-274410578mer-1achr13:27441038-27441062178.00-27.19
ROSMAPENST000003811202744508827445156hsa-miR-4684-5pchr13:27445140-274451478mer-1achr13:27445133-27445156158.00-14.95
ROSMAPENST000003811162744101727441077hsa-miR-3605-5pchr13:27441050-274410578mer-1achr13:27441038-27441062178.00-27.19
ROSMAPENST000003811202744508827445156hsa-miR-942-5pchr13:27445142-274451498mer-1achr13:27445133-27445156158.00-14.95
ROSMAPENST000003811202744508827445156hsa-miR-6072chr13:27445121-274451288mer-1achr13:27445108-27445128156.00-20.10
ROSMAPENST000003811202744508827445156hsa-miR-520b-5pchr13:27445139-274451468mer-1achr13:27445128-27445146164.00-20.32
ROSMAPENST000003811202744508827445156hsa-miR-519a-2-5pchr13:27445139-274451468mer-1achr13:27445128-27445146164.00-20.32
ROSMAPENST000003811202744508827445156hsa-miR-4279chr13:27445124-274451318mer-1achr13:27445117-27445140152.00-18.28
ROSMAPENST000003811202744508827445156hsa-miR-6891-3pchr13:27445121-274451288mer-1achr13:27445108-27445128156.00-20.10

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SNVs in the skipped exons for MTIF3

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 MTIF3

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_120168-4.519215e-011.576643e-02chr13-274402812744044927441017274410772744508827445137

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MTIF3

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 MTIF3

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for MTIF3

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 MTIF3

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