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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for DMTF1 |
Gene summary |
Gene information | Gene symbol | DMTF1 | Gene ID | 9988 |
Gene name | cyclin D binding myb like transcription factor 1 | |
Synonyms | DMP1|DMTF|MRUL|hDMP1 | |
Cytomap | 7q21.12 | |
Type of gene | protein-coding | |
Description | cyclin-D-binding Myb-like transcription factor 1cyclin D-binding Myb-like proteincyclin-D-interacting Myb-like protein 1hDMTF1 | |
Modification date | 20200313 | |
UniProtAcc | A0A1D5RMP8, C9J4F7, C9J8Y5, C9JED5, C9JFR2, C9JGT5, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for DMTF1 |
Skipped 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000449088.7 | DMTF1-218:protein_coding:DMTF1 | 2.267220e+01 | 1.558261e+00 | 1.204665e-06 | 1.753612e-05 |
CB | UP | ENST00000447863.5 | DMTF1-216:nonsense_mediated_decay:DMTF1 | 4.439210e+02 | 8.491343e-01 | 7.633878e-06 | 8.407443e-05 |
CB | DOWN | ENST00000579850.5 | DMTF1-228:nonsense_mediated_decay:DMTF1 | 1.052628e+02 | -1.001220e+00 | 7.256308e-03 | 2.672310e-02 |
TC | DOWN | ENST00000579850.5 | DMTF1-228:nonsense_mediated_decay:DMTF1 | 8.926502e+01 | -9.693652e-01 | 3.936545e-03 | 2.798815e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for DMTF1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_101497 | chr7 | 87152546:87152555:87154390:87154528:87163495:87163539 | 87154390:87154528 |
exon_skip_102866 | chr7 | 87174593:87174669:87179545:87179702:87181309:87181341 | 87179545:87179702 |
exon_skip_121570 | chr7 | 87152546:87152555:87154390:87154528:87163239:87163286 | 87154390:87154528 |
exon_skip_128150 | chr7 | 87152546:87152555:87154228:87154278:87154390:87154528 | 87154228:87154278 |
exon_skip_130032 | chr7 | 87154457:87154528:87163239:87163332:87163495:87163539 | 87163239:87163332 |
exon_skip_138839 | chr7 | 87163495:87163617:87164934:87165050:87166483:87166493 | 87164934:87165050 |
exon_skip_145205 | chr7 | 87152426:87152555:87154390:87154528:87163239:87163332 | 87154390:87154528 |
exon_skip_165460 | chr7 | 87193762:87194102:87194684:87194828:87195031:87195049 | 87194684:87194828 |
exon_skip_17396 | chr7 | 87154457:87154528:87155455:87155497:87163495:87163539 | 87155455:87155497 |
exon_skip_17951 | chr7 | 87193861:87194102:87194684:87194828:87195031:87195166 | 87194684:87194828 |
exon_skip_190612 | chr7 | 87184397:87184625:87184820:87184892:87185829:87185980 | 87184820:87184892 |
exon_skip_195649 | chr7 | 87193725:87194102:87194684:87194828:87195031:87195166 | 87194684:87194828 |
exon_skip_20892 | chr7 | 87193725:87194102:87194684:87194828:87195031:87195757 | 87194684:87194828 |
exon_skip_218360 | chr7 | 87154390:87154528:87155455:87155497:87163495:87163617 | 87155455:87155497 |
exon_skip_245487 | chr7 | 87184402:87184625:87184820:87184892:87185829:87185980 | 87184820:87184892 |
exon_skip_273125 | chr7 | 87152546:87152555:87163239:87163332:87163495:87163539 | 87163239:87163332 |
exon_skip_284576 | chr7 | 87164934:87165050:87166483:87166605:87170995:87171017 | 87166483:87166605 |
exon_skip_37805 | chr7 | 87179545:87179702:87181309:87181341:87182228:87182337 | 87181309:87181341 |
exon_skip_55801 | chr7 | 87163495:87163617:87164254:87164331:87164934:87164989 | 87164254:87164331 |
exon_skip_64944 | chr7 | 87152426:87152555:87163239:87163332:87163495:87163539 | 87163239:87163332 |
exon_skip_69367 | chr7 | 87163495:87163617:87164934:87165050:87166483:87166605 | 87164934:87165050 |
exon_skip_73590 | chr7 | 87179545:87179702:87181309:87181341:87182056:87182337 | 87181309:87181341 |
exon_skip_90035 | chr7 | 87163495:87163617:87164254:87164331:87164934:87165023 | 87164254:87164331 |
exon_skip_95974 | chr7 | 87154457:87154528:87155455:87155497:87163495:87163617 | 87155455:87155497 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for DMTF1 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000331242 | 87164934 | 87165050 | 5CDS-5UTR |
ENST00000394703 | 87164934 | 87165050 | 5CDS-5UTR |
ENST00000331242 | 87179545 | 87179702 | Frame-shift |
ENST00000394703 | 87179545 | 87179702 | Frame-shift |
ENST00000331242 | 87194684 | 87194828 | Frame-shift |
ENST00000394703 | 87194684 | 87194828 | Frame-shift |
ENST00000331242 | 87166483 | 87166605 | In-frame |
ENST00000394703 | 87166483 | 87166605 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000331242 | 87164934 | 87165050 | 5CDS-5UTR |
ENST00000394703 | 87164934 | 87165050 | 5CDS-5UTR |
ENST00000331242 | 87179545 | 87179702 | Frame-shift |
ENST00000394703 | 87179545 | 87179702 | Frame-shift |
ENST00000331242 | 87194684 | 87194828 | Frame-shift |
ENST00000394703 | 87194684 | 87194828 | Frame-shift |
ENST00000331242 | 87166483 | 87166605 | In-frame |
ENST00000394703 | 87166483 | 87166605 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000331242 | 87164934 | 87165050 | 5CDS-5UTR |
ENST00000394703 | 87164934 | 87165050 | 5CDS-5UTR |
ENST00000331242 | 87179545 | 87179702 | Frame-shift |
ENST00000394703 | 87179545 | 87179702 | Frame-shift |
ENST00000331242 | 87194684 | 87194828 | Frame-shift |
ENST00000394703 | 87194684 | 87194828 | Frame-shift |
ENST00000331242 | 87166483 | 87166605 | In-frame |
ENST00000394703 | 87166483 | 87166605 | In-frame |
ENST00000331242 | 87181309 | 87181341 | In-frame |
ENST00000394703 | 87181309 | 87181341 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DMTF1 |
p-ENSG00000135164_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000331242 | 3818 | 760 | 87166483 | 87166605 | 437 | 558 | 37 | 77 |
ENST00000394703 | 4055 | 760 | 87166483 | 87166605 | 674 | 795 | 37 | 77 |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000331242 | 3818 | 760 | 87166483 | 87166605 | 437 | 558 | 37 | 77 |
ENST00000394703 | 4055 | 760 | 87166483 | 87166605 | 674 | 795 | 37 | 77 |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000331242 | 3818 | 760 | 87166483 | 87166605 | 437 | 558 | 37 | 77 |
ENST00000394703 | 4055 | 760 | 87166483 | 87166605 | 674 | 795 | 37 | 77 |
ENST00000331242 | 3818 | 760 | 87181309 | 87181341 | 1005 | 1036 | 226 | 236 |
ENST00000394703 | 4055 | 760 | 87181309 | 87181341 | 1242 | 1273 | 226 | 236 |
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 feature | Description of feature |
Q9Y222 | 37 | 77 | 1 | 88 | Alternative sequence | ID=VSP_041063;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y222 | 37 | 77 | 1 | 88 | Alternative sequence | ID=VSP_041063;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y222 | 37 | 77 | 37 | 78 | Alternative sequence | ID=VSP_032089;Note=In isoform 4. EADEIDSEDSIEPPHKRLCLSSEDDQSIDDSTPCISVVALPL->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
Q9Y222 | 37 | 77 | 37 | 78 | Alternative sequence | ID=VSP_032089;Note=In isoform 4. EADEIDSEDSIEPPHKRLCLSSEDDQSIDDSTPCISVVALPL->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
Q9Y222 | 37 | 77 | 1 | 760 | Chain | ID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1 |
Q9Y222 | 37 | 77 | 1 | 760 | Chain | ID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1 |
Q9Y222 | 37 | 77 | 1 | 237 | Region | Note=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9Y222 | 37 | 77 | 1 | 237 | Region | Note=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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 feature | Description of feature |
Q9Y222 | 37 | 77 | 1 | 88 | Alternative sequence | ID=VSP_041063;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y222 | 37 | 77 | 1 | 88 | Alternative sequence | ID=VSP_041063;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y222 | 37 | 77 | 37 | 78 | Alternative sequence | ID=VSP_032089;Note=In isoform 4. EADEIDSEDSIEPPHKRLCLSSEDDQSIDDSTPCISVVALPL->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
Q9Y222 | 37 | 77 | 37 | 78 | Alternative sequence | ID=VSP_032089;Note=In isoform 4. EADEIDSEDSIEPPHKRLCLSSEDDQSIDDSTPCISVVALPL->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
Q9Y222 | 37 | 77 | 1 | 760 | Chain | ID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1 |
Q9Y222 | 37 | 77 | 1 | 760 | Chain | ID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1 |
Q9Y222 | 37 | 77 | 1 | 237 | Region | Note=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9Y222 | 37 | 77 | 1 | 237 | Region | Note=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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 feature | Description of feature |
Q9Y222 | 37 | 77 | 1 | 88 | Alternative sequence | ID=VSP_041063;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y222 | 37 | 77 | 1 | 88 | Alternative sequence | ID=VSP_041063;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y222 | 37 | 77 | 37 | 78 | Alternative sequence | ID=VSP_032089;Note=In isoform 4. EADEIDSEDSIEPPHKRLCLSSEDDQSIDDSTPCISVVALPL->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
Q9Y222 | 37 | 77 | 37 | 78 | Alternative sequence | ID=VSP_032089;Note=In isoform 4. EADEIDSEDSIEPPHKRLCLSSEDDQSIDDSTPCISVVALPL->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
Q9Y222 | 37 | 77 | 1 | 760 | Chain | ID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1 |
Q9Y222 | 37 | 77 | 1 | 760 | Chain | ID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1 |
Q9Y222 | 37 | 77 | 1 | 237 | Region | Note=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9Y222 | 37 | 77 | 1 | 237 | Region | Note=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9Y222 | 226 | 236 | 1 | 760 | Chain | ID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1 |
Q9Y222 | 226 | 236 | 1 | 760 | Chain | ID=PRO_0000323729;Note=Cyclin-D-binding Myb-like transcription factor 1 |
Q9Y222 | 226 | 236 | 225 | 263 | Domain | Note=Myb-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00133 |
Q9Y222 | 226 | 236 | 225 | 263 | Domain | Note=Myb-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00133 |
Q9Y222 | 226 | 236 | 229 | 242 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LLK |
Q9Y222 | 226 | 236 | 229 | 242 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LLK |
Q9Y222 | 226 | 236 | 1 | 237 | Region | Note=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9Y222 | 226 | 236 | 1 | 237 | Region | Note=Interaction with CCND2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9Y222 | 226 | 236 | 87 | 458 | Region | Note=Required for DNA-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9Y222 | 226 | 236 | 87 | 458 | Region | Note=Required for DNA-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9Y222 | 226 | 236 | 176 | 760 | Region | Note=Interaction with CCND1%2C CCND2 and CCND3;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9Y222 | 226 | 236 | 176 | 760 | Region | Note=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 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for DMTF1 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for DMTF1 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DMTF1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for DMTF1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBM6 | exon_skip_101497 | 4.260205e-01 | 8.272707e-08 |
CB | TARDBP | exon_skip_130032 | -4.551641e-01 | 8.825757e-09 |
CB | RBM3 | exon_skip_130032 | 4.847189e-01 | 6.493526e-10 |
CB | TRA2A | exon_skip_130032 | -5.529800e-01 | 5.507900e-13 |
IFG | SNRNP70 | exon_skip_273125 | -4.086328e-01 | 4.741873e-02 |
IFG | CELF1 | exon_skip_273125 | -4.061320e-01 | 4.892593e-02 |
IFG | PABPC5 | exon_skip_273125 | -4.444425e-01 | 2.956212e-02 |
TC | RBM6 | exon_skip_101497 | 4.152631e-01 | 1.870014e-07 |
TC | NOVA1 | exon_skip_101497 | -4.123930e-01 | 2.313536e-07 |
TC | RBM3 | exon_skip_130032 | 4.517902e-01 | 8.230006e-09 |
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RelatedDrugs for DMTF1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for DMTF1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |