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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 TMEM97 |
 Gene summary |
| Gene information | Gene symbol | TMEM97 | Gene ID | 27346 |
| Gene name | transmembrane protein 97 | |
| Synonyms | MAC30 | |
| Cytomap | 17q11.2 | |
| Type of gene | protein-coding | |
| Description | sigma intracellular receptor 2meningioma-associated protein 30sigma-2 receptorsigma2 receptor | |
| Modification date | 20180523 | |
| UniProtAcc | Q5BJF2 | |
| Context | PubMed: TMEM97 [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 |
| TMEM97 | GO:0042632 | cholesterol homeostasis | 19583955 |
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Exon skipping events across known transcript of Ensembl for TMEM97 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 TMEM97 |
| 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 TMEM97 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_150225 | 17 | 26646358:26646391:26652528:26652673:26653559:26653901 | 26652528:26652673 | ENSG00000109084.9 | ENST00000583381.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TMEM97 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_150225 | 17 | 26646358:26646391:26652528:26652673:26653559:26653901 | 26652528:26652673 | ENSG00000109084.9 | ENST00000583381.1 |
| 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 TMEM97 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for TMEM97 |
| 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 |
| 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 |
| 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 TMEM97 |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_150225 | 26652529 | 26652673 | 26652586 | 26652586 | Frame_Shift_Del | C | - | p.P63fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_150225 | 26652529 | 26652673 | 26652591 | 26652591 | Frame_Shift_Del | A | - | p.P63fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_150225 | 26652529 | 26652673 | 26652613 | 26652613 | Frame_Shift_Del | T | - | p.F71fs |
| LUSC | TCGA-85-6561-01 | exon_skip_150225 | 26652529 | 26652673 | 26652619 | 26652619 | Nonsense_Mutation | G | T | p.E73* |
| - 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 |
| MFE319_ENDOMETRIUM | 26652529 | 26652673 | 26652539 | 26652539 | Missense_Mutation | T | C | p.L46P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM97 |
| 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 TMEM97 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM97 |
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RelatedDrugs for TMEM97 |
| 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 TMEM97 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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