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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for MXD3 |
 Gene summary |
| Gene information | Gene symbol | MXD3 | Gene ID | 83463 |
| Gene name | MAX dimerization protein 3 | |
| Synonyms | BHLHC13|MAD3|MYX | |
| Cytomap | 5q35.3 | |
| Type of gene | protein-coding | |
| Description | max dimerization protein 3Max-associated protein 3Max-interacting transcriptional repressor MAD3class C basic helix-loop-helix protein 13max dimerizer 3 | |
| Modification date | 20180520 | |
| UniProtAcc | Q9BW11 | |
| Context | PubMed: MXD3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for MXD3 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for MXD3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MXD3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_446515 | 5 | 176737426:176737541:176737668:176737698:176738379:176738485 | 176737668:176737698 | ENSG00000213347.6 | ENST00000423571.2,ENST00000439742.2,ENST00000513063.1,ENST00000513169.1,ENST00000427908.2 |
| exon_skip_446520 | 5 | 176737426:176737541:176738379:176738485:176738761:176738858 | 176738379:176738485 | ENSG00000213347.6 | ENST00000502529.1 |
| exon_skip_446526 | 5 | 176737668:176737698:176738379:176738485:176738761:176738871 | 176738379:176738485 | ENSG00000213347.6 | ENST00000423571.2,ENST00000439742.2,ENST00000513063.1,ENST00000427908.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MXD3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_446515 | 5 | 176737426:176737541:176737668:176737698:176738379:176738485 | 176737668:176737698 | ENSG00000213347.6 | ENST00000427908.2,ENST00000423571.2,ENST00000439742.2,ENST00000513063.1,ENST00000513169.1 |
| exon_skip_446520 | 5 | 176737426:176737541:176738379:176738485:176738761:176738858 | 176738379:176738485 | ENSG00000213347.6 | ENST00000502529.1 |
| exon_skip_446526 | 5 | 176737668:176737698:176738379:176738485:176738761:176738871 | 176738379:176738485 | ENSG00000213347.6 | ENST00000427908.2,ENST00000423571.2,ENST00000439742.2,ENST00000513063.1 |
| exon_skip_446527 | 5 | 176737668:176737698:176738379:176738515:176738761:176738883 | 176738379:176738515 | ENSG00000213347.6 | ENST00000513169.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MXD3 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000439742 | 176738379 | 176738485 | Frame-shift |
| ENST00000513063 | 176738379 | 176738485 | Frame-shift |
| ENST00000439742 | 176737668 | 176737698 | In-frame |
| ENST00000513063 | 176737668 | 176737698 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000439742 | 176738379 | 176738485 | Frame-shift |
| ENST00000513063 | 176738379 | 176738485 | Frame-shift |
| ENST00000439742 | 176737668 | 176737698 | In-frame |
| ENST00000513063 | 176737668 | 176737698 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MXD3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000439742 | 1500 | 206 | 176737668 | 176737698 | 656 | 685 | 59 | 68 |
| ENST00000513063 | 878 | 206 | 176737668 | 176737698 | 264 | 293 | 59 | 68 |
| Loci of skipped exons in GTEx 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 |
| ENST00000439742 | 1500 | 206 | 176737668 | 176737698 | 656 | 685 | 59 | 68 |
| ENST00000513063 | 878 | 206 | 176737668 | 176737698 | 264 | 293 | 59 | 68 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q9BW11 | 59 | 68 | 60 | 68 | Alternative sequence | ID=VSP_021109;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9BW11 | 59 | 68 | 60 | 68 | Alternative sequence | ID=VSP_021109;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9BW11 | 59 | 68 | 1 | 206 | Chain | ID=PRO_0000253707;Note=Max dimerization protein 3 |
| Q9BW11 | 59 | 68 | 1 | 206 | Chain | ID=PRO_0000253707;Note=Max dimerization protein 3 |
| Q9BW11 | 59 | 68 | 57 | 109 | Domain | Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 |
| Q9BW11 | 59 | 68 | 57 | 109 | Domain | Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q9BW11 | 59 | 68 | 60 | 68 | Alternative sequence | ID=VSP_021109;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9BW11 | 59 | 68 | 60 | 68 | Alternative sequence | ID=VSP_021109;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9BW11 | 59 | 68 | 1 | 206 | Chain | ID=PRO_0000253707;Note=Max dimerization protein 3 |
| Q9BW11 | 59 | 68 | 1 | 206 | Chain | ID=PRO_0000253707;Note=Max dimerization protein 3 |
| Q9BW11 | 59 | 68 | 57 | 109 | Domain | Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 |
| Q9BW11 | 59 | 68 | 57 | 109 | Domain | Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 |
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SNVs in the skipped exons for MXD3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| BLCA | TCGA-K4-A5RH-01 | exon_skip_446520 exon_skip_446526 | 176738380 | 176738485 | 176738408 | 176738408 | Frame_Shift_Del | G | - | p.Q50fs |
| CHOL | TCGA-4G-AAZO-01 | exon_skip_446520 exon_skip_446526 | 176738380 | 176738485 | 176738408 | 176738408 | Frame_Shift_Del | G | - | p.Q50fs |
| COAD | TCGA-AD-6964-01 | exon_skip_446520 exon_skip_446526 | 176738380 | 176738485 | 176738408 | 176738408 | Frame_Shift_Del | G | - | p.Q50fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_446520 exon_skip_446526 | 176738380 | 176738485 | 176738436 | 176738436 | Frame_Shift_Del | G | - | p.P40fs |
| COAD | TCGA-A6-5665-01 | exon_skip_446520 exon_skip_446526 | 176738380 | 176738485 | 176738407 | 176738408 | Frame_Shift_Ins | - | G | p.Q50fs |
| COAD | TCGA-AD-6889-01 | exon_skip_446520 exon_skip_446526 | 176738380 | 176738485 | 176738407 | 176738408 | Frame_Shift_Ins | - | G | p.Q50fs |
| COAD | TCGA-CM-6164-01 | exon_skip_446520 exon_skip_446526 | 176738380 | 176738485 | 176738407 | 176738408 | Frame_Shift_Ins | - | G | p.Q50fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_446520 exon_skip_446526 | 176738380 | 176738485 | 176738407 | 176738408 | Frame_Shift_Ins | - | G | p.G50fs |
| UCEC | TCGA-AP-A059-01 | exon_skip_446515 | 176737669 | 176737698 | 176737699 | 176737699 | Splice_Site | C | T | e3-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| SNU738_CENTRAL_NERVOUS_SYSTEM | 176738380 | 176738485 | 176738408 | 176738408 | Frame_Shift_Del | G | - | p.Q50fs |
| MFE319_ENDOMETRIUM | 176738380 | 176738485 | 176738408 | 176738408 | Frame_Shift_Del | G | - | p.Q50fs |
| SNU407_LARGE_INTESTINE | 176738380 | 176738485 | 176738408 | 176738408 | Frame_Shift_Del | G | - | p.Q50fs |
| DU4475_BREAST | 176738380 | 176738485 | 176738467 | 176738467 | Missense_Mutation | G | A | p.A30V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MXD3 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MXD3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MXD3 |
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RelatedDrugs for MXD3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MXD3 |
| 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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