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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 TMEM230 |
 Gene summary |
| Gene information | Gene symbol | TMEM230 | Gene ID | 29058 |
| Gene name | transmembrane protein 230 | |
| Synonyms | C20orf30|HSPC274|dJ1116H23.2.1 | |
| Cytomap | 20p13-p12.3 | |
| Type of gene | protein-coding | |
| Description | transmembrane protein 230UPF0414 transmembrane protein C20orf30 | |
| Modification date | 20200320 | |
| 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 |
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Gene structures and expression levels for TMEM230 |
| 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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ENSG00000089063
| 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 TMEM230 |
| 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_108189 | chr20 | 5109383:5109445:5111500:5111605:5112743:5112790 | 5111500:5111605 |
| exon_skip_12156 | chr20 | 5106188:5106310:5109332:5109445:5111500:5111605 | 5109332:5109445 |
| exon_skip_225030 | chr20 | 5109383:5109445:5111764:5111808:5112730:5112753 | 5111764:5111808 |
| exon_skip_23762 | chr20 | 5109383:5109445:5111500:5111605:5112961:5113076 | 5111500:5111605 |
| exon_skip_243948 | chr20 | 5109332:5109445:5111500:5111605:5112743:5112790 | 5111500:5111605 |
| exon_skip_246124 | chr20 | 5106188:5106310:5109332:5109445:5112961:5113076 | 5109332:5109445 |
| exon_skip_251189 | chr20 | 5109332:5109445:5111764:5111808:5112743:5112790 | 5111764:5111808 |
| exon_skip_262605 | chr20 | 5109332:5109445:5111500:5111605:5112961:5113076 | 5111500:5111605 |
| exon_skip_267732 | chr20 | 5109383:5109445:5111764:5111808:5112743:5112904 | 5111764:5111808 |
| exon_skip_278893 | chr20 | 5099850:5100931:5106188:5106310:5109332:5109445 | 5106188:5106310 |
| exon_skip_35011 | chr20 | 5109332:5109445:5111500:5111605:5112743:5113042 | 5111500:5111605 |
| exon_skip_47541 | chr20 | 5109332:5109445:5111764:5111808:5112730:5112753 | 5111764:5111808 |
| exon_skip_56752 | chr20 | 5109332:5109445:5111764:5111808:5112743:5112904 | 5111764:5111808 |
| 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 TMEM230 |
| 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 |
| ENST00000202834 | 5109332 | 5109445 | 3UTR-3CDS |
| ENST00000379286 | 5111500 | 5111605 | 3UTR-3UTR |
| ENST00000379277 | 5111764 | 5111808 | 3UTR-3UTR |
| ENST00000202834 | 5106188 | 5106310 | In-frame |
| ENST00000379277 | 5106188 | 5106310 | In-frame |
| ENST00000379279 | 5106188 | 5106310 | In-frame |
| ENST00000379283 | 5106188 | 5106310 | In-frame |
| ENST00000379286 | 5106188 | 5106310 | In-frame |
| 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 |
| ENST00000379286 | 5111500 | 5111605 | 3UTR-3UTR |
| ENST00000379277 | 5111764 | 5111808 | 3UTR-3UTR |
| ENST00000202834 | 5106188 | 5106310 | In-frame |
| ENST00000379277 | 5106188 | 5106310 | In-frame |
| ENST00000379279 | 5106188 | 5106310 | In-frame |
| ENST00000379283 | 5106188 | 5106310 | In-frame |
| ENST00000379286 | 5106188 | 5106310 | In-frame |
| 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 |
| ENST00000202834 | 5109332 | 5109445 | 3UTR-3CDS |
| ENST00000379286 | 5109332 | 5109445 | 3UTR-3CDS |
| ENST00000379286 | 5111500 | 5111605 | 3UTR-3UTR |
| ENST00000379277 | 5111764 | 5111808 | 3UTR-3UTR |
| ENST00000202834 | 5106188 | 5106310 | In-frame |
| ENST00000379277 | 5106188 | 5106310 | In-frame |
| ENST00000379279 | 5106188 | 5106310 | In-frame |
| ENST00000379283 | 5106188 | 5106310 | In-frame |
| ENST00000379286 | 5106188 | 5106310 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TMEM230 |
p-ENSG00000089063_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 |
| ENST00000202834 | 1489 | 120 | 5106188 | 5106310 | 258 | 379 | 33 | 73 |
| ENST00000379277 | 1553 | 120 | 5106188 | 5106310 | 322 | 443 | 33 | 73 |
| ENST00000379279 | 1653 | 120 | 5106188 | 5106310 | 422 | 543 | 33 | 73 |
| ENST00000379283 | 1677 | 120 | 5106188 | 5106310 | 446 | 567 | 33 | 73 |
| ENST00000379286 | 1752 | 120 | 5106188 | 5106310 | 521 | 642 | 33 | 73 |
| 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 |
| ENST00000202834 | 1489 | 120 | 5106188 | 5106310 | 258 | 379 | 33 | 73 |
| ENST00000379277 | 1553 | 120 | 5106188 | 5106310 | 322 | 443 | 33 | 73 |
| ENST00000379279 | 1653 | 120 | 5106188 | 5106310 | 422 | 543 | 33 | 73 |
| ENST00000379283 | 1677 | 120 | 5106188 | 5106310 | 446 | 567 | 33 | 73 |
| ENST00000379286 | 1752 | 120 | 5106188 | 5106310 | 521 | 642 | 33 | 73 |
| 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 |
| ENST00000202834 | 1489 | 120 | 5106188 | 5106310 | 258 | 379 | 33 | 73 |
| ENST00000379277 | 1553 | 120 | 5106188 | 5106310 | 322 | 443 | 33 | 73 |
| ENST00000379279 | 1653 | 120 | 5106188 | 5106310 | 422 | 543 | 33 | 73 |
| ENST00000379283 | 1677 | 120 | 5106188 | 5106310 | 446 | 567 | 33 | 73 |
| ENST00000379286 | 1752 | 120 | 5106188 | 5106310 | 521 | 642 | 33 | 73 |
| 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 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 1 | 120 | Chain | ID=PRO_0000233892;Note=Transmembrane protein 230 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 59 | 61 | Sequence conflict | Note=LII->SY;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96A57 | 33 | 73 | 46 | 66 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in TMEM230 |
| 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 | ENST00000379286 | 5111500 | 5111605 | hsa-miR-4695-3p | chr20:5111557-5111564 | 8mer-1a | chr20:5111538-5111564 | 156.00 | -27.59 |
| Mayo | ENST00000379286 | 5111500 | 5111605 | hsa-miR-4294 | chr20:5111597-5111604 | 8mer-1a | chr20:5111590-5111605 | 157.00 | -17.65 |
| Mayo | ENST00000379286 | 5111500 | 5111605 | hsa-miR-148b-5p | chr20:5111590-5111597 | 8mer-1a | chr20:5111575-5111597 | 159.00 | -16.89 |
| Mayo | ENST00000379286 | 5111500 | 5111605 | hsa-miR-6787-3p | chr20:5111554-5111561 | 8mer-1a | chr20:5111539-5111561 | 171.00 | -32.81 |
| Mayo | ENST00000379277 | 5111764 | 5111808 | hsa-miR-4773 | chr20:5111785-5111792 | 8mer-1a | chr20:5111779-5111801 | 162.00 | -16.39 |
| Mayo | ENST00000379286 | 5111500 | 5111605 | hsa-miR-6874-3p | chr20:5111590-5111597 | 8mer-1a | chr20:5111575-5111597 | 159.00 | -16.89 |
| MSBB | ENST00000379286 | 5111500 | 5111605 | hsa-miR-4695-3p | chr20:5111557-5111564 | 8mer-1a | chr20:5111538-5111564 | 156.00 | -27.59 |
| MSBB | ENST00000379286 | 5111500 | 5111605 | hsa-miR-4294 | chr20:5111597-5111604 | 8mer-1a | chr20:5111590-5111605 | 157.00 | -17.65 |
| MSBB | ENST00000379286 | 5111500 | 5111605 | hsa-miR-148b-5p | chr20:5111590-5111597 | 8mer-1a | chr20:5111575-5111597 | 159.00 | -16.89 |
| MSBB | ENST00000379286 | 5111500 | 5111605 | hsa-miR-6787-3p | chr20:5111554-5111561 | 8mer-1a | chr20:5111539-5111561 | 171.00 | -32.81 |
| MSBB | ENST00000379277 | 5111764 | 5111808 | hsa-miR-4773 | chr20:5111785-5111792 | 8mer-1a | chr20:5111779-5111801 | 162.00 | -16.39 |
| MSBB | ENST00000379286 | 5111500 | 5111605 | hsa-miR-6874-3p | chr20:5111590-5111597 | 8mer-1a | chr20:5111575-5111597 | 159.00 | -16.89 |
| ROSMAP | ENST00000379286 | 5111500 | 5111605 | hsa-miR-4695-3p | chr20:5111557-5111564 | 8mer-1a | chr20:5111538-5111564 | 156.00 | -27.59 |
| ROSMAP | ENST00000379286 | 5111500 | 5111605 | hsa-miR-4294 | chr20:5111597-5111604 | 8mer-1a | chr20:5111590-5111605 | 157.00 | -17.65 |
| ROSMAP | ENST00000379286 | 5111500 | 5111605 | hsa-miR-148b-5p | chr20:5111590-5111597 | 8mer-1a | chr20:5111575-5111597 | 159.00 | -16.89 |
| ROSMAP | ENST00000379286 | 5111500 | 5111605 | hsa-miR-6787-3p | chr20:5111554-5111561 | 8mer-1a | chr20:5111539-5111561 | 171.00 | -32.81 |
| ROSMAP | ENST00000379277 | 5111764 | 5111808 | hsa-miR-4773 | chr20:5111785-5111792 | 8mer-1a | chr20:5111779-5111801 | 162.00 | -16.39 |
| ROSMAP | ENST00000379286 | 5111500 | 5111605 | hsa-miR-6874-3p | chr20:5111590-5111597 | 8mer-1a | chr20:5111575-5111597 | 159.00 | -16.89 |
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SNVs in the skipped exons for TMEM230 |
| - 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 TMEM230 |
| 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 |
| CDR | MSBB | IFG | exon_skip_262605 | -4.761111e-01 | 1.043458e-02 | chr20 | - | 5109332 | 5109445 | 5111500 | 5111605 | 5112961 | 5113076 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM230 |
| 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 TMEM230 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for TMEM230 |
| 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 TMEM230 |
| 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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