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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 MAPRE2 |
Gene summary |
| Gene information | Gene symbol | MAPRE2 | Gene ID | 10982 |
| Gene name | microtubule associated protein RP/EB family member 2 | |
| Synonyms | CSCSC2|EB1|EB2|RP1 | |
| Cytomap | 18q12.1-q12.2 | |
| Type of gene | protein-coding | |
| Description | microtubule-associated protein RP/EB family member 2APC-binding protein EB1APC-binding protein EB2T-cell activation protein, EB1 familyend-binding protein 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q15555 | |
| Context | PubMed: MAPRE2 [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 MAPRE2 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 MAPRE2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MAPRE2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_296324 | 18 | 32557018:32557043:32568556:32568812:32585455:32585517 | 32568556:32568812 | ENSG00000166974.8 | ENST00000587359.1 |
| exon_skip_296325 | 18 | 32557018:32557043:32585455:32585517:32650158:32650234 | 32585455:32585517 | ENSG00000166974.8 | ENST00000589180.1,ENST00000413393.1 |
| exon_skip_296327 | 18 | 32558389:32558505:32585455:32585517:32650158:32650234 | 32585455:32585517 | ENSG00000166974.8 | ENST00000436190.2 |
| exon_skip_296328 | 18 | 32558389:32558505:32585478:32585517:32650158:32650234 | 32585478:32585517 | ENSG00000166974.8 | ENST00000588349.2 |
| exon_skip_296330 | 18 | 32621453:32621625:32650158:32650286:32677409:32677522 | 32650158:32650286 | ENSG00000166974.8 | ENST00000300249.5,ENST00000588910.1 |
| exon_skip_296331 | 18 | 32650158:32650286:32677409:32677555:32681909:32682023 | 32677409:32677555 | ENSG00000166974.8 | ENST00000436190.2,ENST00000591734.1,ENST00000588349.2,ENST00000589699.1,ENST00000300249.5,ENST00000588910.1,ENST00000413393.1 |
| exon_skip_296333 | 18 | 32706911:32707051:32711995:32712154:32720258:32720461 | 32711995:32712154 | ENSG00000166974.8 | ENST00000436190.2,ENST00000589699.1,ENST00000300249.5,ENST00000538170.2,ENST00000413393.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAPRE2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_296323 | 18 | 32557018:32557043:32564360:32564436:32568556:32568803 | 32564360:32564436 | ENSG00000166974.8 | ENST00000590793.1 |
| exon_skip_296324 | 18 | 32557018:32557043:32568556:32568812:32585455:32585517 | 32568556:32568812 | ENSG00000166974.8 | ENST00000587359.1 |
| exon_skip_296325 | 18 | 32557018:32557043:32585455:32585517:32650158:32650234 | 32585455:32585517 | ENSG00000166974.8 | ENST00000413393.1,ENST00000589180.1 |
| exon_skip_296327 | 18 | 32558389:32558505:32585455:32585517:32650158:32650234 | 32585455:32585517 | ENSG00000166974.8 | ENST00000436190.2 |
| exon_skip_296328 | 18 | 32558389:32558505:32585478:32585517:32650158:32650234 | 32585478:32585517 | ENSG00000166974.8 | ENST00000588349.2 |
| exon_skip_296330 | 18 | 32621453:32621625:32650158:32650286:32677409:32677522 | 32650158:32650286 | ENSG00000166974.8 | ENST00000300249.5,ENST00000588910.1 |
| exon_skip_296331 | 18 | 32650158:32650286:32677409:32677555:32681909:32682023 | 32677409:32677555 | ENSG00000166974.8 | ENST00000591734.1,ENST00000413393.1,ENST00000436190.2,ENST00000588349.2,ENST00000300249.5,ENST00000588910.1,ENST00000589699.1 |
| exon_skip_296333 | 18 | 32706911:32707051:32711995:32712154:32720258:32720461 | 32711995:32712154 | ENSG00000166974.8 | ENST00000413393.1,ENST00000436190.2,ENST00000300249.5,ENST00000538170.2,ENST00000589699.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MAPRE2 |
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 |
| ENST00000300249 | 32650158 | 32650286 | Frame-shift |
| ENST00000300249 | 32677409 | 32677555 | Frame-shift |
| ENST00000300249 | 32711995 | 32712154 | 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 |
| ENST00000300249 | 32650158 | 32650286 | Frame-shift |
| ENST00000300249 | 32677409 | 32677555 | Frame-shift |
| ENST00000300249 | 32711995 | 32712154 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAPRE2 |
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 |
| ENST00000300249 | 4282 | 327 | 32711995 | 32712154 | 931 | 1089 | 250 | 303 |
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 |
| ENST00000300249 | 4282 | 327 | 32711995 | 32712154 | 931 | 1089 | 250 | 303 |
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 |
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 |
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SNVs in the skipped exons for MAPRE2 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| HNSC | TCGA-CN-A49A-01 | exon_skip_296330 | 32650159 | 32650286 | 32650271 | 32650271 | Nonsense_Mutation | G | T | p.E67* |
- 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 |
| LNCAPCLONEFGC_PROSTATE | 32650159 | 32650286 | 32650260 | 32650260 | Missense_Mutation | A | G | p.Y75C |
| NCIH889_LUNG | 32650159 | 32650286 | 32650281 | 32650281 | Missense_Mutation | G | T | p.C82F |
| HEC251_ENDOMETRIUM | 32677410 | 32677555 | 32677476 | 32677476 | Missense_Mutation | T | G | p.F106C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAPRE2 |
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 MAPRE2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAPRE2 |
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RelatedDrugs for MAPRE2 |
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 MAPRE2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MAPRE2 | C4225225 | SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 | 1 | UNIPROT |