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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 MAPRE1 |
 Gene summary |
| Gene information | Gene symbol | MAPRE1 | Gene ID | 22919 |
| Gene name | microtubule associated protein RP/EB family member 1 | |
| Synonyms | EB1 | |
| Cytomap | 20q11.21 | |
| Type of gene | protein-coding | |
| Description | microtubule-associated protein RP/EB family member 1APC-binding protein EB1adenomatous polyposis coli-binding protein EB1end-binding protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q15691 | |
| Context | PubMed: MAPRE1 [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 |
| MAPRE1 | GO:0031115 | negative regulation of microtubule polymerization | 11943150 |
| MAPRE1 | GO:0035372 | protein localization to microtubule | 19632184|21820309 |
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Exon skipping events across known transcript of Ensembl for MAPRE1 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 MAPRE1 |
| 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 MAPRE1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_350141 | 20 | 31421522:31421668:31424439:31424647:31427540:31427662 | 31424439:31424647 | ENSG00000101367.8 | ENST00000375571.5 |
| exon_skip_350144 | 20 | 31427540:31427662:31434423:31434576:31436477:31438211 | 31434423:31434576 | ENSG00000101367.8 | ENST00000375571.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAPRE1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_350141 | 20 | 31421522:31421668:31424439:31424647:31427540:31427662 | 31424439:31424647 | ENSG00000101367.8 | ENST00000375571.5 |
| exon_skip_350144 | 20 | 31427540:31427662:31434423:31434576:31436477:31438211 | 31434423:31434576 | ENSG00000101367.8 | ENST00000375571.5 |
| 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 MAPRE1 |
| 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 |
| ENST00000375571 | 31424439 | 31424647 | Frame-shift |
| ENST00000375571 | 31434423 | 31434576 | 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 |
| ENST00000375571 | 31424439 | 31424647 | Frame-shift |
| ENST00000375571 | 31434423 | 31434576 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAPRE1 |
| 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 |
| ENST00000375571 | 2640 | 268 | 31434423 | 31434576 | 737 | 889 | 199 | 250 |
| 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 |
| ENST00000375571 | 2640 | 268 | 31434423 | 31434576 | 737 | 889 | 199 | 250 |
| 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 |
| Q15691 | 199 | 250 | 2 | 268 | Chain | ID=PRO_0000213416;Note=Microtubule-associated protein RP/EB family member 1 |
| Q15691 | 199 | 250 | 185 | 255 | Domain | Note=EB1 C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00576 |
| Q15691 | 199 | 250 | 192 | 230 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WU9 |
| Q15691 | 199 | 250 | 237 | 247 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WU9 |
| Q15691 | 199 | 250 | 124 | 268 | Region | Note=Interaction with MTUS2/TIP150;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19543227;Dbxref=PMID:19543227 |
| Q15691 | 199 | 250 | 185 | 268 | Region | Note=Interaction with CDK5RAP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19553473;Dbxref=PMID:19553473 |
| Q15691 | 199 | 250 | 208 | 268 | Region | Note=DCTN1-binding |
| Q15691 | 199 | 250 | 220 | 242 | Region | Note=APC-binding |
| Q15691 | 199 | 250 | 231 | 233 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WU9 |
| 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 |
| Q15691 | 199 | 250 | 2 | 268 | Chain | ID=PRO_0000213416;Note=Microtubule-associated protein RP/EB family member 1 |
| Q15691 | 199 | 250 | 185 | 255 | Domain | Note=EB1 C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00576 |
| Q15691 | 199 | 250 | 192 | 230 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WU9 |
| Q15691 | 199 | 250 | 237 | 247 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WU9 |
| Q15691 | 199 | 250 | 124 | 268 | Region | Note=Interaction with MTUS2/TIP150;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19543227;Dbxref=PMID:19543227 |
| Q15691 | 199 | 250 | 185 | 268 | Region | Note=Interaction with CDK5RAP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19553473;Dbxref=PMID:19553473 |
| Q15691 | 199 | 250 | 208 | 268 | Region | Note=DCTN1-binding |
| Q15691 | 199 | 250 | 220 | 242 | Region | Note=APC-binding |
| Q15691 | 199 | 250 | 231 | 233 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WU9 |
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SNVs in the skipped exons for MAPRE1 |
| - 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. |
MAPRE1_HNSC_exon_skip_350141_psi_boxplot.png |
MAPRE1_UCS_exon_skip_350141_psi_boxplot.png |
| - 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 |
| HNSC | TCGA-CQ-6229-01 | exon_skip_350141 | 31424440 | 31424647 | 31424527 | 31424528 | Frame_Shift_Del | TA | - | p.Y119fs |
| BLCA | TCGA-UY-A78O-01 | exon_skip_350144 | 31434424 | 31434576 | 31434531 | 31434531 | Frame_Shift_Del | C | - | p.N235fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_350141 | 31424440 | 31424647 | 31424467 | 31424467 | Nonsense_Mutation | G | T | p.G99* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_350141 | 31424440 | 31424647 | 31424467 | 31424467 | Nonsense_Mutation | G | T | p.G99X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CQ-6229-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_350141 | |
| Skipped exon start: 31424440 | |
| Skipped exon end: 31424647 | |
| Mutation start: 31424527 | |
| Mutation end: 31424528 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: TA | |
| Mutation seq: - | |
| AAchange: p.Y119fs | |
exon_skip_350141_HNSC_TCGA-CQ-6229-01.png | |
| - 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 |
| HCT15_LARGE_INTESTINE | 31424440 | 31424647 | 31424549 | 31424549 | Missense_Mutation | C | A | p.P126H |
| SNU1040_LARGE_INTESTINE | 31434424 | 31434576 | 31434430 | 31434430 | Missense_Mutation | G | A | p.V202I |
| OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31434424 | 31434576 | 31434448 | 31434448 | Missense_Mutation | G | A | p.E208K |
| MFE319_ENDOMETRIUM | 31434424 | 31434576 | 31434574 | 31434574 | Missense_Mutation | G | A | p.D250N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAPRE1 |
| 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 MAPRE1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAPRE1 |
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RelatedDrugs for MAPRE1 |
| 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 MAPRE1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MAPRE1 | C0043094 | Weight Gain | 1 | CTD_human |
| MAPRE1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
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