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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 DMTF1

check button Gene summary
Gene informationGene symbol

DMTF1

Gene ID

9988

Gene namecyclin D binding myb like transcription factor 1
SynonymsDMP1|DMTF|MRUL|hDMP1
Cytomap

7q21.12

Type of geneprotein-coding
Descriptioncyclin-D-binding Myb-like transcription factor 1cyclin D-binding Myb-like proteincyclin-D-interacting Myb-like protein 1hDMTF1
Modification date20200313
UniProtAcc

A0A1D5RMP8,

C9J4F7,

C9J8Y5,

C9JED5,

C9JFR2,

C9JGT5,

C9JLR5,

C9JVQ7,

C9JZZ6,

C9K0K9,

C9K0L9,

D6W5P0,

E7EPA0,

F8VXY9,

H7C388,

J3KRC1,

J3QKU5,

J3QLN9,

J3QLW3,

Q9Y222,

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 DMTF1

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

ENSG00000135164
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
CBUPENST00000449088.7DMTF1-218:protein_coding:DMTF12.267220e+011.558261e+001.204665e-061.753612e-05
CBUPENST00000447863.5DMTF1-216:nonsense_mediated_decay:DMTF14.439210e+028.491343e-017.633878e-068.407443e-05
CBDOWNENST00000579850.5DMTF1-228:nonsense_mediated_decay:DMTF11.052628e+02-1.001220e+007.256308e-032.672310e-02
TCDOWNENST00000579850.5DMTF1-228:nonsense_mediated_decay:DMTF18.926502e+01-9.693652e-013.936545e-032.798815e-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 DMTF1

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_101497chr787152546:87152555:87154390:87154528:87163495:8716353987154390:87154528
exon_skip_102866chr787174593:87174669:87179545:87179702:87181309:8718134187179545:87179702
exon_skip_121570chr787152546:87152555:87154390:87154528:87163239:8716328687154390:87154528
exon_skip_128150chr787152546:87152555:87154228:87154278:87154390:8715452887154228:87154278
exon_skip_130032chr787154457:87154528:87163239:87163332:87163495:8716353987163239:87163332
exon_skip_138839chr787163495:87163617:87164934:87165050:87166483:8716649387164934:87165050
exon_skip_145205chr787152426:87152555:87154390:87154528:87163239:8716333287154390:87154528
exon_skip_165460chr787193762:87194102:87194684:87194828:87195031:8719504987194684:87194828
exon_skip_17396chr787154457:87154528:87155455:87155497:87163495:8716353987155455:87155497
exon_skip_17951chr787193861:87194102:87194684:87194828:87195031:8719516687194684:87194828
exon_skip_190612chr787184397:87184625:87184820:87184892:87185829:8718598087184820:87184892
exon_skip_195649chr787193725:87194102:87194684:87194828:87195031:8719516687194684:87194828
exon_skip_20892chr787193725:87194102:87194684:87194828:87195031:8719575787194684:87194828
exon_skip_218360chr787154390:87154528:87155455:87155497:87163495:8716361787155455:87155497
exon_skip_245487chr787184402:87184625:87184820:87184892:87185829:8718598087184820:87184892
exon_skip_273125chr787152546:87152555:87163239:87163332:87163495:8716353987163239:87163332
exon_skip_284576chr787164934:87165050:87166483:87166605:87170995:8717101787166483:87166605
exon_skip_37805chr787179545:87179702:87181309:87181341:87182228:8718233787181309:87181341
exon_skip_55801chr787163495:87163617:87164254:87164331:87164934:8716498987164254:87164331
exon_skip_64944chr787152426:87152555:87163239:87163332:87163495:8716353987163239:87163332
exon_skip_69367chr787163495:87163617:87164934:87165050:87166483:8716660587164934:87165050
exon_skip_73590chr787179545:87179702:87181309:87181341:87182056:8718233787181309:87181341
exon_skip_90035chr787163495:87163617:87164254:87164331:87164934:8716502387164254:87164331
exon_skip_95974chr787154457:87154528:87155455:87155497:87163495:8716361787155455:87155497

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 DMTF1

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
ENST0000033124287164934871650505CDS-5UTR
ENST0000039470387164934871650505CDS-5UTR
ENST000003312428717954587179702Frame-shift
ENST000003947038717954587179702Frame-shift
ENST000003312428719468487194828Frame-shift
ENST000003947038719468487194828Frame-shift
ENST000003312428716648387166605In-frame
ENST000003947038716648387166605In-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
ENST0000033124287164934871650505CDS-5UTR
ENST0000039470387164934871650505CDS-5UTR
ENST000003312428717954587179702Frame-shift
ENST000003947038717954587179702Frame-shift
ENST000003312428719468487194828Frame-shift
ENST000003947038719468487194828Frame-shift
ENST000003312428716648387166605In-frame
ENST000003947038716648387166605In-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
ENST0000033124287164934871650505CDS-5UTR
ENST0000039470387164934871650505CDS-5UTR
ENST000003312428717954587179702Frame-shift
ENST000003947038717954587179702Frame-shift
ENST000003312428719468487194828Frame-shift
ENST000003947038719468487194828Frame-shift
ENST000003312428716648387166605In-frame
ENST000003947038716648387166605In-frame
ENST000003312428718130987181341In-frame
ENST000003947038718130987181341In-frame

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Infer the effects of exon skipping event on protein functional features for DMTF1

p-ENSG00000135164_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
ENST00000331242381876087166483871666054375583777
ENST00000394703405576087166483871666056747953777

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
ENST00000331242381876087166483871666054375583777
ENST00000394703405576087166483871666056747953777

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
ENST00000331242381876087166483871666054375583777
ENST00000394703405576087166483871666056747953777
ENST000003312423818760871813098718134110051036226236
ENST000003947034055760871813098718134112421273226236

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
Q9Y2223777188Alternative sequenceID=VSP_041063;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y2223777188Alternative sequenceID=VSP_041063;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y22237773778Alternative sequenceID=VSP_032089;Note=In isoform 4. EADEIDSEDSIEPPHKRLCLSSEDDQSIDDSTPCISVVALPL->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9Y22237773778Alternative sequenceID=VSP_032089;Note=In isoform 4. EADEIDSEDSIEPPHKRLCLSSEDDQSIDDSTPCISVVALPL->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9Y22237771760ChainID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1
Q9Y22237771760ChainID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1
Q9Y22237771237RegionNote=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9Y22237771237RegionNote=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q9Y2223777188Alternative sequenceID=VSP_041063;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y2223777188Alternative sequenceID=VSP_041063;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y22237773778Alternative sequenceID=VSP_032089;Note=In isoform 4. EADEIDSEDSIEPPHKRLCLSSEDDQSIDDSTPCISVVALPL->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9Y22237773778Alternative sequenceID=VSP_032089;Note=In isoform 4. EADEIDSEDSIEPPHKRLCLSSEDDQSIDDSTPCISVVALPL->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9Y22237771760ChainID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1
Q9Y22237771760ChainID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1
Q9Y22237771237RegionNote=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9Y22237771237RegionNote=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q9Y2223777188Alternative sequenceID=VSP_041063;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y2223777188Alternative sequenceID=VSP_041063;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9Y22237773778Alternative sequenceID=VSP_032089;Note=In isoform 4. EADEIDSEDSIEPPHKRLCLSSEDDQSIDDSTPCISVVALPL->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9Y22237773778Alternative sequenceID=VSP_032089;Note=In isoform 4. EADEIDSEDSIEPPHKRLCLSSEDDQSIDDSTPCISVVALPL->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9Y22237771760ChainID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1
Q9Y22237771760ChainID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1
Q9Y22237771237RegionNote=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9Y22237771237RegionNote=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9Y2222262361760ChainID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1
Q9Y2222262361760ChainID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1
Q9Y222226236225263DomainNote=Myb-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00133
Q9Y222226236225263DomainNote=Myb-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00133
Q9Y222226236229242HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LLK
Q9Y222226236229242HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LLK
Q9Y2222262361237RegionNote=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9Y2222262361237RegionNote=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9Y22222623687458RegionNote=Required for DNA-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9Y22222623687458RegionNote=Required for DNA-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9Y222226236176760RegionNote=Interaction with CCND1%2C CCND2 and CCND3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9Y222226236176760RegionNote=Interaction with CCND1%2C CCND2 and CCND3;Ontology_term=ECO:0000250;evidence=ECO:0000250


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3'-UTR located exon skipping events that lost miRNA binding sites in DMTF1

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 DMTF1

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 DMTF1

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 DMTF1

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 DMTF1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBRBM6exon_skip_1014974.260205e-018.272707e-08
CBTARDBPexon_skip_130032-4.551641e-018.825757e-09
CBRBM3exon_skip_1300324.847189e-016.493526e-10
CBTRA2Aexon_skip_130032-5.529800e-015.507900e-13
IFGSNRNP70exon_skip_273125-4.086328e-014.741873e-02
IFGCELF1exon_skip_273125-4.061320e-014.892593e-02
IFGPABPC5exon_skip_273125-4.444425e-012.956212e-02
TCRBM6exon_skip_1014974.152631e-011.870014e-07
TCNOVA1exon_skip_101497-4.123930e-012.313536e-07
TCRBM3exon_skip_1300324.517902e-018.230006e-09

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RelatedDrugs for DMTF1

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 DMTF1

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