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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 TMEM220 |
 Gene summary |
| Gene information | Gene symbol | TMEM220 | Gene ID | 388335 |
| Gene name | transmembrane protein 220 | |
| Synonyms | - | |
| Cytomap | 17p13.1 | |
| Type of gene | protein-coding | |
| Description | transmembrane protein 220 | |
| Modification date | 20180519 | |
| UniProtAcc | Q6QAJ8 | |
| Context | PubMed: TMEM220 [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 TMEM220 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 TMEM220 |
| 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 TMEM220 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_286703 | 17 | 10618746:10618905:10626586:10626646:10628327:10628436 | 10626586:10626646 | ENSG00000187824.4 | ENST00000455996.2,ENST00000580186.1,ENST00000341871.3 |
| exon_skip_286705 | 17 | 10626586:10626646:10627771:10627819:10628327:10628436 | 10627771:10627819 | ENSG00000187824.4 | ENST00000581949.1 |
| exon_skip_286707 | 17 | 10626586:10626646:10628327:10628451:10629520:10629581 | 10628327:10628451 | ENSG00000187824.4 | ENST00000455996.2,ENST00000580186.1,ENST00000341871.3 |
| exon_skip_286711 | 17 | 10628327:10628451:10629520:10629581:10632347:10632377 | 10629520:10629581 | ENSG00000187824.4 | ENST00000341871.3 |
| exon_skip_286712 | 17 | 10628327:10628451:10629520:10629581:10633096:10633303 | 10629520:10629581 | ENSG00000187824.4 | ENST00000455996.2,ENST00000578345.1 |
| exon_skip_286715 | 17 | 10629520:10629581:10632347:10632377:10633096:10633303 | 10632347:10632377 | ENSG00000187824.4 | ENST00000341871.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TMEM220 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_286703 | 17 | 10618746:10618905:10626586:10626646:10628327:10628436 | 10626586:10626646 | ENSG00000187824.4 | ENST00000341871.3,ENST00000455996.2,ENST00000580186.1 |
| exon_skip_286705 | 17 | 10626586:10626646:10627771:10627819:10628327:10628436 | 10627771:10627819 | ENSG00000187824.4 | ENST00000581949.1 |
| exon_skip_286707 | 17 | 10626586:10626646:10628327:10628451:10629520:10629581 | 10628327:10628451 | ENSG00000187824.4 | ENST00000341871.3,ENST00000455996.2,ENST00000580186.1 |
| exon_skip_286711 | 17 | 10628327:10628451:10629520:10629581:10632347:10632377 | 10629520:10629581 | ENSG00000187824.4 | ENST00000341871.3 |
| exon_skip_286712 | 17 | 10628327:10628451:10629520:10629581:10633096:10633303 | 10629520:10629581 | ENSG00000187824.4 | ENST00000455996.2,ENST00000578345.1 |
| exon_skip_286715 | 17 | 10629520:10629581:10632347:10632377:10633096:10633303 | 10632347:10632377 | ENSG00000187824.4 | ENST00000341871.3 |
| 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 TMEM220 |
| 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 |
| ENST00000341871 | 10628327 | 10628451 | Frame-shift |
| ENST00000341871 | 10629520 | 10629581 | Frame-shift |
| ENST00000341871 | 10626586 | 10626646 | In-frame |
| ENST00000341871 | 10632347 | 10632377 | 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 |
| ENST00000341871 | 10628327 | 10628451 | Frame-shift |
| ENST00000341871 | 10629520 | 10629581 | Frame-shift |
| ENST00000341871 | 10626586 | 10626646 | In-frame |
| ENST00000341871 | 10632347 | 10632377 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TMEM220 |
| 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 |
| ENST00000341871 | 3123 | 160 | 10632347 | 10632377 | 538 | 567 | 24 | 34 |
| ENST00000341871 | 3123 | 160 | 10626586 | 10626646 | 753 | 812 | 96 | 115 |
| 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 |
| ENST00000341871 | 3123 | 160 | 10632347 | 10632377 | 538 | 567 | 24 | 34 |
| ENST00000341871 | 3123 | 160 | 10626586 | 10626646 | 753 | 812 | 96 | 115 |
| 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 |
| Q6QAJ8 | 24 | 34 | 25 | 34 | Alternative sequence | ID=VSP_031477;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.2;Dbxref=PMID:14702039 |
| Q6QAJ8 | 24 | 34 | 1 | 160 | Chain | ID=PRO_0000319424;Note=Transmembrane protein 220 |
| Q6QAJ8 | 24 | 34 | 30 | 50 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6QAJ8 | 96 | 115 | 1 | 160 | Chain | ID=PRO_0000319424;Note=Transmembrane protein 220 |
| Q6QAJ8 | 96 | 115 | 100 | 120 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q6QAJ8 | 24 | 34 | 25 | 34 | Alternative sequence | ID=VSP_031477;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.2;Dbxref=PMID:14702039 |
| Q6QAJ8 | 24 | 34 | 1 | 160 | Chain | ID=PRO_0000319424;Note=Transmembrane protein 220 |
| Q6QAJ8 | 24 | 34 | 30 | 50 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6QAJ8 | 96 | 115 | 1 | 160 | Chain | ID=PRO_0000319424;Note=Transmembrane protein 220 |
| Q6QAJ8 | 96 | 115 | 100 | 120 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for TMEM220 |
| - 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 |
| BRCA | TCGA-A7-A13D-01 | exon_skip_286715 | 10632348 | 10632377 | 10632347 | 10632347 | Splice_Site | C | A | e2+1 |
| - 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 |
| K2_SKIN | 10626587 | 10626646 | 10626590 | 10626590 | Missense_Mutation | G | A | p.S115L |
| SIHA_CERVIX | 10628328 | 10628451 | 10628369 | 10628369 | Missense_Mutation | C | G | p.L82F |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10628328 | 10628451 | 10628401 | 10628401 | Missense_Mutation | C | T | p.V72M |
| OC316_OVARY | 10628328 | 10628451 | 10628403 | 10628403 | Missense_Mutation | G | A | p.T71M |
| OC314_OVARY | 10628328 | 10628451 | 10628403 | 10628403 | Missense_Mutation | G | A | p.T71M |
| TCCSUP_URINARY_TRACT | 10628328 | 10628451 | 10628410 | 10628410 | Missense_Mutation | A | G | p.F69L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM220 |
| 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 TMEM220 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM220 |
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RelatedDrugs for TMEM220 |
| 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 TMEM220 |
| 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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