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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 MXI1 |
 Gene summary |
| Gene information | Gene symbol | MXI1 | Gene ID | 4601 |
| Gene name | MAX interactor 1, dimerization protein | |
| Synonyms | MAD2|MXD2|MXI|bHLHc11 | |
| Cytomap | 10q25.2 | |
| Type of gene | protein-coding | |
| Description | max-interacting protein 1MAX dimerization protein 2Max-related transcription factorclass C basic helix-loop-helix protein 11 | |
| Modification date | 20180519 | |
| UniProtAcc | P50539 | |
| Context | PubMed: MXI1 [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 |
| MXI1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 11875718 |
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Exon skipping events across known transcript of Ensembl for MXI1 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 MXI1 |
| 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 MXI1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45002 | 10 | 111987946:111988079:112004585:112004615:112038937:112039052 | 112004585:112004615 | ENSG00000119950.16 | ENST00000442296.1,ENST00000332674.5,ENST00000239007.7,ENST00000369612.1 |
| exon_skip_45003 | 10 | 111987946:111988079:112004585:112004631:112038937:112039052 | 112004585:112004631 | ENSG00000119950.16 | ENST00000460667.1 |
| exon_skip_45005 | 10 | 112004585:112004615:112005500:112005576:112038937:112039052 | 112005500:112005576 | ENSG00000119950.16 | ENST00000485566.1,ENST00000484030.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MXI1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45002 | 10 | 111987946:111988079:112004585:112004615:112038937:112039052 | 112004585:112004615 | ENSG00000119950.16 | ENST00000332674.5,ENST00000239007.7,ENST00000442296.1,ENST00000369612.1 |
| exon_skip_45003 | 10 | 111987946:111988079:112004585:112004631:112038937:112039052 | 112004585:112004631 | ENSG00000119950.16 | ENST00000460667.1 |
| exon_skip_45005 | 10 | 112004585:112004615:112005500:112005576:112038937:112039052 | 112005500:112005576 | ENSG00000119950.16 | ENST00000484030.1,ENST00000485566.1 |
| 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 MXI1 |
| 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 |
| ENST00000239007 | 112004585 | 112004615 | 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 |
| ENST00000239007 | 112004585 | 112004615 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MXI1 |
| 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 |
| ENST00000239007 | 2441 | 228 | 112004585 | 112004615 | 425 | 454 | 69 | 78 |
| 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 |
| ENST00000239007 | 2441 | 228 | 112004585 | 112004615 | 425 | 454 | 69 | 78 |
| 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 |
| P50539 | 69 | 78 | 68 | 77 | Alternative sequence | ID=VSP_043170;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.5;Dbxref=PMID:15489334 |
| P50539 | 69 | 78 | 1 | 228 | Chain | ID=PRO_0000127285;Note=Max-interacting protein 1 |
| P50539 | 69 | 78 | 67 | 119 | 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 |
| P50539 | 69 | 78 | 68 | 77 | Alternative sequence | ID=VSP_043170;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.5;Dbxref=PMID:15489334 |
| P50539 | 69 | 78 | 1 | 228 | Chain | ID=PRO_0000127285;Note=Max-interacting protein 1 |
| P50539 | 69 | 78 | 67 | 119 | Domain | Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 |
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SNVs in the skipped exons for MXI1 |
| - 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 |
| - 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 |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112004586 | 112004631 | 112004605 | 112004606 | Frame_Shift_Ins | - | A | p.E76fs |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112004586 | 112004615 | 112004605 | 112004606 | Frame_Shift_Ins | - | A | p.E76fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112004586 | 112004631 | 112004615 | 112004615 | Splice_Site | G | A | p.R79Q |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112004586 | 112004615 | 112004615 | 112004615 | Splice_Site | G | A | p.R79Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MXI1 |
| 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 MXI1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MXI1 |
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RelatedDrugs for MXI1 |
| 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 MXI1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MXI1 | C0022658 | Kidney Diseases | 1 | CTD_human |
| MXI1 | C0376358 | Malignant neoplasm of prostate | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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