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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 TMEM87A |
Gene summary |
| Gene information | Gene symbol | TMEM87A | Gene ID | 25963 |
| Gene name | transmembrane protein 87A | |
| Synonyms | - | |
| Cytomap | 15q15.1 | |
| Type of gene | protein-coding | |
| Description | transmembrane protein 87A | |
| Modification date | 20180519 | |
| UniProtAcc | Q8NBN3 | |
| Context | PubMed: TMEM87A [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 TMEM87A 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 TMEM87A |
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 TMEM87A |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126356 | 15 | 42512259:42512333:42519003:42519107:42519908:42519967 | 42519003:42519107 | ENSG00000103978.11 | ENST00000389834.4,ENST00000448392.1 |
| exon_skip_126361 | 15 | 42523389:42523458:42525410:42525504:42528517:42528617 | 42525410:42525504 | ENSG00000103978.11 | ENST00000389834.4,ENST00000562946.1,ENST00000448392.1 |
| exon_skip_126364 | 15 | 42525410:42525504:42528517:42528617:42529629:42529673 | 42528517:42528617 | ENSG00000103978.11 | ENST00000566014.1,ENST00000389834.4,ENST00000562946.1,ENST00000569075.1,ENST00000448392.1 |
| exon_skip_126365 | 15 | 42529742:42529813:42531867:42531929:42536247:42536365 | 42531867:42531929 | ENSG00000103978.11 | ENST00000389834.4,ENST00000562946.1,ENST00000563371.1,ENST00000569075.1,ENST00000448392.1,ENST00000568400.1 |
| exon_skip_126368 | 15 | 42531867:42531929:42536247:42536365:42553155:42553200 | 42536247:42536365 | ENSG00000103978.11 | ENST00000389834.4,ENST00000562946.1,ENST00000563371.1,ENST00000569075.1,ENST00000561578.1,ENST00000448392.1,ENST00000568400.1 |
| exon_skip_126369 | 15 | 42536329:42536365:42553155:42553200:42553393:42553447 | 42553155:42553200 | ENSG00000103978.11 | ENST00000566474.1,ENST00000389834.4,ENST00000562946.1,ENST00000563371.1,ENST00000569075.1,ENST00000561578.1,ENST00000448392.1,ENST00000568400.1 |
| exon_skip_126370 | 15 | 42553393:42553447:42554320:42554441:42556287:42556401 | 42554320:42554441 | ENSG00000103978.11 | ENST00000563371.1 |
| exon_skip_126372 | 15 | 42560144:42560230:42564260:42564321:42565452:42565513 | 42564260:42564321 | ENSG00000103978.11 | ENST00000307216.6,ENST00000562946.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TMEM87A |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126356 | 15 | 42512259:42512333:42519003:42519107:42519908:42519967 | 42519003:42519107 | ENSG00000103978.11 | ENST00000389834.4,ENST00000448392.1 |
| exon_skip_126361 | 15 | 42523389:42523458:42525410:42525504:42528517:42528617 | 42525410:42525504 | ENSG00000103978.11 | ENST00000389834.4,ENST00000448392.1,ENST00000562946.1 |
| exon_skip_126364 | 15 | 42525410:42525504:42528517:42528617:42529629:42529673 | 42528517:42528617 | ENSG00000103978.11 | ENST00000389834.4,ENST00000448392.1,ENST00000566014.1,ENST00000562946.1,ENST00000569075.1 |
| exon_skip_126365 | 15 | 42529742:42529813:42531867:42531929:42536247:42536365 | 42531867:42531929 | ENSG00000103978.11 | ENST00000389834.4,ENST00000448392.1,ENST00000562946.1,ENST00000569075.1,ENST00000568400.1,ENST00000563371.1 |
| exon_skip_126368 | 15 | 42531867:42531929:42536247:42536365:42553155:42553200 | 42536247:42536365 | ENSG00000103978.11 | ENST00000389834.4,ENST00000448392.1,ENST00000562946.1,ENST00000569075.1,ENST00000568400.1,ENST00000563371.1,ENST00000561578.1 |
| exon_skip_126369 | 15 | 42536329:42536365:42553155:42553200:42553393:42553447 | 42553155:42553200 | ENSG00000103978.11 | ENST00000389834.4,ENST00000448392.1,ENST00000562946.1,ENST00000569075.1,ENST00000568400.1,ENST00000563371.1,ENST00000561578.1,ENST00000566474.1 |
| exon_skip_126370 | 15 | 42553393:42553447:42554320:42554441:42556287:42556401 | 42554320:42554441 | ENSG00000103978.11 | ENST00000563371.1 |
| exon_skip_126372 | 15 | 42560144:42560230:42564260:42564321:42565452:42565513 | 42564260:42564321 | ENSG00000103978.11 | ENST00000562946.1,ENST00000307216.6 |
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 TMEM87A |
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 |
| ENST00000389834 | 42519003 | 42519107 | Frame-shift |
| ENST00000389834 | 42525410 | 42525504 | Frame-shift |
| ENST00000389834 | 42528517 | 42528617 | Frame-shift |
| ENST00000389834 | 42531867 | 42531929 | Frame-shift |
| ENST00000389834 | 42536247 | 42536365 | Frame-shift |
| ENST00000389834 | 42553155 | 42553200 | 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 |
| ENST00000389834 | 42519003 | 42519107 | Frame-shift |
| ENST00000389834 | 42525410 | 42525504 | Frame-shift |
| ENST00000389834 | 42528517 | 42528617 | Frame-shift |
| ENST00000389834 | 42531867 | 42531929 | Frame-shift |
| ENST00000389834 | 42536247 | 42536365 | Frame-shift |
| ENST00000389834 | 42553155 | 42553200 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TMEM87A |
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 |
| ENST00000389834 | 3126 | 555 | 42553155 | 42553200 | 725 | 769 | 153 | 168 |
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 |
| ENST00000389834 | 3126 | 555 | 42553155 | 42553200 | 725 | 769 | 153 | 168 |
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 |
| Q8NBN3 | 153 | 168 | 22 | 555 | Chain | ID=PRO_0000270751;Note=Transmembrane protein 87A |
| Q8NBN3 | 153 | 168 | 157 | 157 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19349973;Dbxref=PMID:19349973 |
| Q8NBN3 | 153 | 168 | 160 | 160 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19349973;Dbxref=PMID:19349973 |
| Q8NBN3 | 153 | 168 | 22 | 225 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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 |
| Q8NBN3 | 153 | 168 | 22 | 555 | Chain | ID=PRO_0000270751;Note=Transmembrane protein 87A |
| Q8NBN3 | 153 | 168 | 157 | 157 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19349973;Dbxref=PMID:19349973 |
| Q8NBN3 | 153 | 168 | 160 | 160 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19349973;Dbxref=PMID:19349973 |
| Q8NBN3 | 153 | 168 | 22 | 225 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for TMEM87A |
- 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_126368 | 42536248 | 42536365 | 42536271 | 42536271 | Frame_Shift_Del | T | - | p.N200fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_126372 | 42564261 | 42564321 | 42564301 | 42564301 | Frame_Shift_Del | A | - | p.F55fs |
| COAD | TCGA-D5-6930-01 | exon_skip_126372 | 42564261 | 42564321 | 42564314 | 42564314 | Frame_Shift_Del | T | - | p.N51fs |
| KICH | TCGA-KN-8428-01 | exon_skip_126372 | 42564261 | 42564321 | 42564314 | 42564314 | Frame_Shift_Del | T | - | p.N51fs |
| CESC | TCGA-FU-A2QG-01 | exon_skip_126365 | 42531868 | 42531929 | 42531888 | 42531888 | Nonsense_Mutation | C | A | p.E222* |
| LIHC | TCGA-DD-A119-01 | exon_skip_126365 | 42531868 | 42531929 | 42531866 | 42531866 | Splice_Site | A | G | . |
- 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 |
| HEC151_ENDOMETRIUM | 42564261 | 42564321 | 42564314 | 42564314 | Frame_Shift_Del | T | - | p.N51fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42519004 | 42519107 | 42519100 | 42519100 | Missense_Mutation | C | T | p.R436Q |
| MDAMB231_BREAST | 42519004 | 42519107 | 42519100 | 42519100 | Missense_Mutation | C | T | p.R436Q |
| COLO684_ENDOMETRIUM | 42525411 | 42525504 | 42525500 | 42525500 | Missense_Mutation | G | A | p.R325C |
| NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42528518 | 42528617 | 42528547 | 42528547 | Missense_Mutation | G | C | p.I313M |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42536248 | 42536365 | 42536326 | 42536326 | Missense_Mutation | A | G | p.Y182H |
| ML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42525411 | 42525504 | 42525453 | 42525453 | Nonsense_Mutation | A | C | p.Y340* |
| MOGGCCM_CENTRAL_NERVOUS_SYSTEM | 42553156 | 42553200 | 42553200 | 42553200 | Splice_Site | C | T | p.A154T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM87A |
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 TMEM87A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM87A |
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RelatedDrugs for TMEM87A |
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 TMEM87A |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |