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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for DMXL2 |
 Gene summary |
| Gene information | Gene symbol | DMXL2 | Gene ID | 23312 |
| Gene name | Dmx like 2 | |
| Synonyms | DFNA71|EIEE81|PEPNS|RC3 | |
| Cytomap | 15q21.2 | |
| Type of gene | protein-coding | |
| Description | dmX-like protein 2rabconnectin-3 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| 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 DMXL2 |
| 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. |
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ENSG00000104093
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000559498.1 | DMXL2-208:nonsense_mediated_decay:DMXL2 | 1.286179e+01 | 1.060988e+00 | 1.325544e-07 | 2.701563e-06 |
| 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 DMXL2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_118133 | chr15 | 51476589:51476716:51478271:51478347:51479948:51480139 | 51478271:51478347 |
| exon_skip_13933 | chr15 | 51464675:51464876:51465566:51465651:51466184:51466311 | 51465566:51465651 |
| exon_skip_140207 | chr15 | 51491578:51491747:51495024:51495134:51498552:51500231 | 51495024:51495134 |
| exon_skip_169948 | chr15 | 51491578:51491747:51495024:51495134:51507134:51507253 | 51495024:51495134 |
| exon_skip_171258 | chr15 | 51498552:51500231:51502806:51503033:51507134:51507253 | 51502806:51503033 |
| exon_skip_171455 | chr15 | 51450195:51450346:51453550:51453641:51455151:51455213 | 51453550:51453641 |
| exon_skip_175000 | chr15 | 51476589:51476716:51478271:51478347:51479948:51480129 | 51478271:51478347 |
| exon_skip_183768 | chr15 | 51458709:51458795:51465566:51465651:51466184:51466311 | 51465566:51465651 |
| exon_skip_187960 | chr15 | 51453550:51453641:51455151:51455228:51456066:51456193 | 51455151:51455228 |
| exon_skip_1952 | chr15 | 51450195:51450346:51451645:51451697:51453550:51453601 | 51451645:51451697 |
| exon_skip_232642 | chr15 | 51450195:51450346:51451645:51451697:51453550:51453641 | 51451645:51451697 |
| exon_skip_23487 | chr15 | 51456325:51456369:51457328:51457466:51458506:51458581 | 51457328:51457466 |
| exon_skip_240523 | chr15 | 51476589:51476719:51478271:51478347:51479948:51480139 | 51478271:51478347 |
| exon_skip_269295 | chr15 | 51458709:51458795:51463379:51463496:51464675:51464876 | 51463379:51463496 |
| exon_skip_280745 | chr15 | 51563381:51563447:51564125:51564260:51565088:51565166 | 51564125:51564260 |
| exon_skip_284632 | chr15 | 51453550:51453641:51455151:51455228:51456066:51456184 | 51455151:51455228 |
| exon_skip_63799 | chr15 | 51463379:51463496:51464675:51464876:51465566:51465651 | 51464675:51464876 |
| exon_skip_94295 | chr15 | 51458709:51458795:51459598:51459660:51463379:51463496 | 51459598:51459660 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_63799 | Mayo_CB | 7.817073e-01 | 8.826154e-01 | -1.009081e-01 | 1.153191e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for DMXL2 |
| 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 |
| ENST00000251076 | 51451645 | 51451697 | Frame-shift |
| ENST00000251076 | 51464675 | 51464876 | Frame-shift |
| ENST00000251076 | 51465566 | 51465651 | Frame-shift |
| ENST00000251076 | 51478271 | 51478347 | Frame-shift |
| ENST00000251076 | 51455151 | 51455228 | In-frame |
| ENST00000251076 | 51495024 | 51495134 | In-frame |
| ENST00000251076 | 51502806 | 51503033 | 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 |
| ENST00000251076 | 51451645 | 51451697 | Frame-shift |
| ENST00000251076 | 51464675 | 51464876 | Frame-shift |
| ENST00000251076 | 51465566 | 51465651 | Frame-shift |
| ENST00000251076 | 51478271 | 51478347 | Frame-shift |
| ENST00000251076 | 51455151 | 51455228 | In-frame |
| ENST00000251076 | 51495024 | 51495134 | In-frame |
| ENST00000251076 | 51502806 | 51503033 | 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 |
| ENST00000251076 | 51451645 | 51451697 | Frame-shift |
| ENST00000251076 | 51457328 | 51457466 | Frame-shift |
| ENST00000251076 | 51463379 | 51463496 | Frame-shift |
| ENST00000251076 | 51464675 | 51464876 | Frame-shift |
| ENST00000251076 | 51465566 | 51465651 | Frame-shift |
| ENST00000251076 | 51478271 | 51478347 | Frame-shift |
| ENST00000251076 | 51564125 | 51564260 | Frame-shift |
| ENST00000251076 | 51455151 | 51455228 | In-frame |
| ENST00000251076 | 51495024 | 51495134 | In-frame |
| ENST00000251076 | 51502806 | 51503033 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DMXL2 |
p-ENSG00000104093_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 |
| ENST00000251076 | 10689 | 3036 | 51502806 | 51503033 | 3053 | 3279 | 921 | 997 |
| ENST00000251076 | 10689 | 3036 | 51495024 | 51495134 | 4961 | 5070 | 1557 | 1594 |
| ENST00000251076 | 10689 | 3036 | 51455151 | 51455228 | 8749 | 8825 | 2820 | 2845 |
| 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 |
| ENST00000251076 | 10689 | 3036 | 51502806 | 51503033 | 3053 | 3279 | 921 | 997 |
| ENST00000251076 | 10689 | 3036 | 51495024 | 51495134 | 4961 | 5070 | 1557 | 1594 |
| ENST00000251076 | 10689 | 3036 | 51455151 | 51455228 | 8749 | 8825 | 2820 | 2845 |
| 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 |
| ENST00000251076 | 10689 | 3036 | 51502806 | 51503033 | 3053 | 3279 | 921 | 997 |
| ENST00000251076 | 10689 | 3036 | 51495024 | 51495134 | 4961 | 5070 | 1557 | 1594 |
| ENST00000251076 | 10689 | 3036 | 51455151 | 51455228 | 8749 | 8825 | 2820 | 2845 |
| 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 |
| Q8TDJ6 | 921 | 997 | 922 | 1557 | Alternative sequence | ID=VSP_043015;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TDJ6 | 921 | 997 | 1 | 3036 | Chain | ID=PRO_0000223324;Note=DmX-like protein 2 |
| Q8TDJ6 | 921 | 997 | 944 | 944 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332 |
| Q8TDJ6 | 921 | 997 | 945 | 945 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332 |
| Q8TDJ6 | 921 | 997 | 974 | 974 | Sequence conflict | Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TDJ6 | 1557 | 1594 | 922 | 1557 | Alternative sequence | ID=VSP_043015;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TDJ6 | 1557 | 1594 | 1 | 3036 | Chain | ID=PRO_0000223324;Note=DmX-like protein 2 |
| Q8TDJ6 | 2820 | 2845 | 1 | 3036 | Chain | ID=PRO_0000223324;Note=DmX-like protein 2 |
| Q8TDJ6 | 2820 | 2845 | 2804 | 2843 | Repeat | Note=WD 12 |
| 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 |
| Q8TDJ6 | 921 | 997 | 922 | 1557 | Alternative sequence | ID=VSP_043015;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TDJ6 | 921 | 997 | 1 | 3036 | Chain | ID=PRO_0000223324;Note=DmX-like protein 2 |
| Q8TDJ6 | 921 | 997 | 944 | 944 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332 |
| Q8TDJ6 | 921 | 997 | 945 | 945 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332 |
| Q8TDJ6 | 921 | 997 | 974 | 974 | Sequence conflict | Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TDJ6 | 1557 | 1594 | 922 | 1557 | Alternative sequence | ID=VSP_043015;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TDJ6 | 1557 | 1594 | 1 | 3036 | Chain | ID=PRO_0000223324;Note=DmX-like protein 2 |
| Q8TDJ6 | 2820 | 2845 | 1 | 3036 | Chain | ID=PRO_0000223324;Note=DmX-like protein 2 |
| Q8TDJ6 | 2820 | 2845 | 2804 | 2843 | Repeat | Note=WD 12 |
| 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 |
| Q8TDJ6 | 921 | 997 | 922 | 1557 | Alternative sequence | ID=VSP_043015;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TDJ6 | 921 | 997 | 1 | 3036 | Chain | ID=PRO_0000223324;Note=DmX-like protein 2 |
| Q8TDJ6 | 921 | 997 | 944 | 944 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332 |
| Q8TDJ6 | 921 | 997 | 945 | 945 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332 |
| Q8TDJ6 | 921 | 997 | 974 | 974 | Sequence conflict | Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TDJ6 | 1557 | 1594 | 922 | 1557 | Alternative sequence | ID=VSP_043015;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TDJ6 | 1557 | 1594 | 1 | 3036 | Chain | ID=PRO_0000223324;Note=DmX-like protein 2 |
| Q8TDJ6 | 2820 | 2845 | 1 | 3036 | Chain | ID=PRO_0000223324;Note=DmX-like protein 2 |
| Q8TDJ6 | 2820 | 2845 | 2804 | 2843 | Repeat | Note=WD 12 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DMXL2 |
| 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 DMXL2 |
| - 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 DMXL2 |
| 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 DMXL2 |
| 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 DMXL2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_284632 | -4.172930e-01 | 8.043159e-08 |
| CB | PCBP4 | exon_skip_284632 | 4.764355e-01 | 4.813774e-10 |
| CB | RC3H1 | exon_skip_284632 | -4.013660e-01 | 2.721524e-07 |
| CB | PTBP1 | exon_skip_284632 | -5.019553e-01 | 3.840361e-11 |
| CB | RBM6 | exon_skip_63799 | -5.279172e-01 | 6.370266e-12 |
| CB | SAMD4A | exon_skip_63799 | -4.644684e-01 | 3.105392e-09 |
| CB | CNOT4 | exon_skip_63799 | -5.084116e-01 | 4.897759e-11 |
| CB | PCBP1 | exon_skip_63799 | -4.097394e-01 | 2.556530e-07 |
| CB | TRA2A | exon_skip_63799 | -6.023943e-01 | 6.945134e-16 |
| CB | RBM45 | exon_skip_63799 | 7.089363e-01 | 9.523116e-24 |
| CB | NUP42 | exon_skip_63799 | 4.852013e-01 | 4.716435e-10 |
| CB | CNOT4 | exon_skip_175000 | -4.604193e-01 | 2.459787e-08 |
| CB | SNRPA | exon_skip_175000 | -4.134800e-01 | 7.549248e-07 |
| CB | DAZAP1 | exon_skip_240523 | -4.189201e-01 | 3.859481e-07 |
| CB | CNOT4 | exon_skip_240523 | -4.550121e-01 | 2.618512e-08 |
| CB | PTBP1 | exon_skip_240523 | -4.656085e-01 | 1.118107e-08 |
| HCC | DAZAP1 | exon_skip_94295 | 5.633549e-01 | 1.119627e-23 |
| HCC | RBMS3 | exon_skip_94295 | 4.752139e-01 | 2.162412e-16 |
| HCC | MSI1 | exon_skip_94295 | 7.027305e-01 | 6.447469e-41 |
| HCC | PABPN1 | exon_skip_94295 | 5.258329e-01 | 2.579721e-20 |
| HCC | IGF2BP2 | exon_skip_94295 | 4.487034e-01 | 1.395307e-14 |
| HCC | SRSF1 | exon_skip_94295 | 4.360741e-01 | 8.976798e-14 |
| PCC | MSI1 | exon_skip_94295 | 5.423318e-01 | 3.757678e-16 |
| TC | SRSF2 | exon_skip_94295 | -5.020408e-01 | 2.624921e-10 |
| TC | MSI1 | exon_skip_94295 | 5.435740e-01 | 3.924622e-12 |
| TC | SRSF9 | exon_skip_94295 | -4.140050e-01 | 3.682194e-07 |
| TC | NOVA1 | exon_skip_94295 | -7.205185e-01 | 1.070530e-23 |
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RelatedDrugs for DMXL2 |
| 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 DMXL2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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