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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 MAD2L2 |
 Gene summary |
| Gene information | Gene symbol | MAD2L2 | Gene ID | 10459 |
| Gene name | mitotic arrest deficient 2 like 2 | |
| Synonyms | FANCV|MAD2B|POLZ2|REV7 | |
| Cytomap | 1p36.22 | |
| Type of gene | protein-coding | |
| Description | mitotic spindle assembly checkpoint protein MAD2BMAD2 (mitotic arrest deficient, yeast, homolog)-like 2MAD2 mitotic arrest deficient-like 2MAD2-like protein 2REV7 homologhREV7mitotic arrest deficient 2-like protein 2mitotic arrest deficient homolog | |
| 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 |
| MAD2L2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 19443654 |
| MAD2L2 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 17296730 |
| MAD2L2 | GO:0042177 | negative regulation of protein catabolic process | 11459826 |
| MAD2L2 | GO:0042772 | DNA damage response, signal transduction resulting in transcription | 17296730 |
| MAD2L2 | GO:0043433 | negative regulation of DNA-binding transcription factor activity | 19443654 |
| MAD2L2 | GO:0045830 | positive regulation of isotype switching | 29656893 |
| MAD2L2 | GO:1904667 | negative regulation of ubiquitin protein ligase activity | 11459826 |
| MAD2L2 | GO:2000042 | negative regulation of double-strand break repair via homologous recombination | 29656893 |
| MAD2L2 | GO:2001034 | positive regulation of double-strand break repair via nonhomologous end joining | 29656893 |
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Gene structures and expression levels for MAD2L2 |
| 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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ENSG00000116670
| 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 |
| 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 MAD2L2 |
| 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_271814 | chr1 | 11676848:11676948:11677543:11677614:11680353:11680471 | 11677543:11677614 |
| exon_skip_37445 | chr1 | 11680562:11680613:11681039:11681438:11681738:11682016 | 11681039:11681438 |
| 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 MAD2L2 |
| 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 |
| 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 |
| 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 |
| ENST00000235310 | 11681039 | 11681438 | 3UTR-3UTR |
| ENST00000235310 | 11677543 | 11677614 | In-frame |
| ENST00000376667 | 11677543 | 11677614 | In-frame |
| ENST00000376692 | 11677543 | 11677614 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAD2L2 |
p-ENSG00000116670_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 |
| 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 |
| 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 |
| ENST00000235310 | 1877 | 211 | 11677543 | 11677614 | 1089 | 1159 | 53 | 76 |
| ENST00000376667 | 889 | 211 | 11677543 | 11677614 | 369 | 439 | 53 | 76 |
| ENST00000376692 | 1135 | 211 | 11677543 | 11677614 | 348 | 418 | 53 | 76 |
| 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 |
| 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 |
| 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 |
| Q9UI95 | 53 | 76 | 50 | 55 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ABD |
| Q9UI95 | 53 | 76 | 50 | 55 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ABD |
| Q9UI95 | 53 | 76 | 50 | 55 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ABD |
| Q9UI95 | 53 | 76 | 1 | 211 | Chain | ID=PRO_0000126119;Note=Mitotic spindle assembly checkpoint protein MAD2B |
| Q9UI95 | 53 | 76 | 1 | 211 | Chain | ID=PRO_0000126119;Note=Mitotic spindle assembly checkpoint protein MAD2B |
| Q9UI95 | 53 | 76 | 1 | 211 | Chain | ID=PRO_0000126119;Note=Mitotic spindle assembly checkpoint protein MAD2B |
| Q9UI95 | 53 | 76 | 13 | 203 | Domain | Note=HORMA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00109 |
| Q9UI95 | 53 | 76 | 13 | 203 | Domain | Note=HORMA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00109 |
| Q9UI95 | 53 | 76 | 13 | 203 | Domain | Note=HORMA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00109 |
| Q9UI95 | 53 | 76 | 58 | 76 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ABD |
| Q9UI95 | 53 | 76 | 58 | 76 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ABD |
| Q9UI95 | 53 | 76 | 58 | 76 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ABD |
| Q9UI95 | 53 | 76 | 63 | 63 | Mutagenesis | Note=Alters interaction with REV3L. Loss of interaction with REV3L%3B when associated with A-171. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20164194;Dbxref=PMID:20164194 |
| Q9UI95 | 53 | 76 | 63 | 63 | Mutagenesis | Note=Alters interaction with REV3L. Loss of interaction with REV3L%3B when associated with A-171. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20164194;Dbxref=PMID:20164194 |
| Q9UI95 | 53 | 76 | 63 | 63 | Mutagenesis | Note=Alters interaction with REV3L. Loss of interaction with REV3L%3B when associated with A-171. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20164194;Dbxref=PMID:20164194 |
| Q9UI95 | 53 | 76 | 21 | 155 | Region | Note=Mediates interaction with REV1 and REV3L and homodimerization |
| Q9UI95 | 53 | 76 | 21 | 155 | Region | Note=Mediates interaction with REV1 and REV3L and homodimerization |
| Q9UI95 | 53 | 76 | 21 | 155 | Region | Note=Mediates interaction with REV1 and REV3L and homodimerization |
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3'-UTR located exon skipping events that lost miRNA binding sites in MAD2L2 |
| 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 |
| Mayo | ENST00000235310 | 11681039 | 11681438 | hsa-miR-6068 | chr1:11681227-11681234 | 8mer-1a | chr1:11681224-11681248 | 154.00 | -30.36 |
| Mayo | ENST00000235310 | 11681039 | 11681438 | hsa-miR-4683 | chr1:11681361-11681368 | 8mer-1a | chr1:11681347-11681368 | 145.00 | -16.95 |
| Mayo | ENST00000235310 | 11681039 | 11681438 | hsa-miR-1268a | chr1:11681196-11681203 | 8mer-1a | chr1:11681182-11681203 | 161.00 | -34.56 |
| Mayo | ENST00000235310 | 11681039 | 11681438 | hsa-miR-6864-5p | chr1:11681322-11681329 | 8mer-1a | chr1:11681306-11681329 | 145.00 | -14.12 |
| Mayo | ENST00000235310 | 11681039 | 11681438 | hsa-miR-1268b | chr1:11681196-11681203 | 8mer-1a | chr1:11681182-11681203 | 161.00 | -34.56 |
| Mayo | ENST00000235310 | 11681039 | 11681438 | hsa-miR-7515 | chr1:11681321-11681328 | 8mer-1a | chr1:11681312-11681328 | 154.00 | -20.24 |
| Mayo | ENST00000235310 | 11681039 | 11681438 | hsa-miR-1292-3p | chr1:11681338-11681345 | 8mer-1a | chr1:11681326-11681345 | 140.00 | -26.04 |
| Mayo | ENST00000235310 | 11681039 | 11681438 | hsa-miR-5091 | chr1:11681259-11681266 | 8mer-1a | chr1:11681252-11681280 | 158.00 | -46.42 |
| Mayo | ENST00000235310 | 11681039 | 11681438 | hsa-miR-10398-5p | chr1:11681087-11681094 | 8mer-1a | chr1:11681083-11681105 | 147.00 | -30.71 |
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SNVs in the skipped exons for MAD2L2 |
| - 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 MAD2L2 |
| 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 MAD2L2 |
| 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 MAD2L2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for MAD2L2 |
| 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 MAD2L2 |
| 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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