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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 TMEM117 |
 Gene summary |
| Gene information | Gene symbol | TMEM117 | Gene ID | 84216 |
| Gene name | transmembrane protein 117 | |
| Synonyms | - | |
| Cytomap | 12q12 | |
| Type of gene | protein-coding | |
| Description | transmembrane protein 117 | |
| Modification date | 20180329 | |
| UniProtAcc | Q9H0C3 | |
| Context | PubMed: TMEM117 [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 TMEM117 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 TMEM117 |
| 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 TMEM117 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_81572 | 12 | 44238666:44238731:44338012:44338145:44537327:44537427 | 44338012:44338145 | ENSG00000139173.5 | ENST00000266534.3,ENST00000551577.1 |
| exon_skip_81573 | 12 | 44238666:44238731:44338012:44338145:44605072:44605170 | 44338012:44338145 | ENSG00000139173.5 | ENST00000546868.1,ENST00000536799.1 |
| exon_skip_81576 | 12 | 44238666:44238731:44537327:44537427:44605072:44605170 | 44537327:44537427 | ENSG00000139173.5 | ENST00000550495.1 |
| exon_skip_81581 | 12 | 44338012:44338145:44537327:44537427:44605072:44605170 | 44537327:44537427 | ENSG00000139173.5 | ENST00000266534.3,ENST00000551577.1 |
| exon_skip_81583 | 12 | 44338012:44338145:44605072:44605170:44693362:44693522 | 44605072:44605170 | ENSG00000139173.5 | ENST00000546868.1,ENST00000536799.1 |
| exon_skip_81590 | 12 | 44477391:44477484:44537327:44537427:44605072:44605170 | 44537327:44537427 | ENSG00000139173.5 | ENST00000550623.1 |
| exon_skip_81591 | 12 | 44537327:44537427:44605072:44605170:44693362:44693522 | 44605072:44605170 | ENSG00000139173.5 | ENST00000550495.1,ENST00000266534.3,ENST00000551577.1,ENST00000550623.1,ENST00000553253.1 |
| exon_skip_81592 | 12 | 44605072:44605170:44693362:44693522:44770377:44770439 | 44693362:44693522 | ENSG00000139173.5 | ENST00000550495.1,ENST00000266534.3,ENST00000546868.1,ENST00000550623.1,ENST00000553253.1,ENST00000536799.1 |
| exon_skip_81594 | 12 | 44693362:44693522:44770377:44770507:44781808:44781818 | 44770377:44770507 | ENSG00000139173.5 | ENST00000550495.1,ENST00000266534.3,ENST00000546868.1,ENST00000536799.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TMEM117 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_81572 | 12 | 44238666:44238731:44338012:44338145:44537327:44537427 | 44338012:44338145 | ENSG00000139173.5 | ENST00000551577.1,ENST00000266534.3 |
| exon_skip_81581 | 12 | 44338012:44338145:44537327:44537427:44605072:44605170 | 44537327:44537427 | ENSG00000139173.5 | ENST00000551577.1,ENST00000266534.3 |
| exon_skip_81583 | 12 | 44338012:44338145:44605072:44605170:44693362:44693522 | 44605072:44605170 | ENSG00000139173.5 | ENST00000546868.1,ENST00000536799.1 |
| exon_skip_81592 | 12 | 44605072:44605170:44693362:44693522:44770377:44770439 | 44693362:44693522 | ENSG00000139173.5 | ENST00000266534.3,ENST00000546868.1,ENST00000550495.1,ENST00000536799.1,ENST00000553253.1,ENST00000550623.1 |
| exon_skip_81594 | 12 | 44693362:44693522:44770377:44770507:44781808:44781818 | 44770377:44770507 | ENSG00000139173.5 | ENST00000266534.3,ENST00000546868.1,ENST00000550495.1,ENST00000536799.1 |
| 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 TMEM117 |
| 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 |
| ENST00000266534 | 44338012 | 44338145 | Frame-shift |
| ENST00000266534 | 44537327 | 44537427 | Frame-shift |
| ENST00000266534 | 44605072 | 44605170 | Frame-shift |
| ENST00000266534 | 44693362 | 44693522 | Frame-shift |
| ENST00000266534 | 44770377 | 44770507 | Frame-shift |
| 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 |
| ENST00000266534 | 44338012 | 44338145 | Frame-shift |
| ENST00000266534 | 44537327 | 44537427 | Frame-shift |
| ENST00000266534 | 44693362 | 44693522 | Frame-shift |
| ENST00000266534 | 44770377 | 44770507 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TMEM117 |
| 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 TMEM117 |
| - 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-DD-A39Y-01 | exon_skip_81573 exon_skip_81572 | 44338013 | 44338145 | 44338029 | 44338029 | Frame_Shift_Del | A | - | p.L98fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_81573 exon_skip_81572 | 44338013 | 44338145 | 44338143 | 44338143 | Frame_Shift_Del | G | - | p.M136fs |
| STAD | TCGA-BR-4201-01 | exon_skip_81583 exon_skip_81591 | 44605073 | 44605170 | 44605117 | 44605117 | Frame_Shift_Del | A | - | p.G185fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_81592 | 44693363 | 44693522 | 44693371 | 44693371 | Frame_Shift_Del | T | - | p.L206fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_81592 | 44693363 | 44693522 | 44693371 | 44693371 | Frame_Shift_Del | T | - | p.L206fs |
| LUAD | TCGA-91-A4BC-01 | exon_skip_81576 exon_skip_81581 exon_skip_81590 | 44537328 | 44537427 | 44537359 | 44537359 | Nonsense_Mutation | C | T | p.R148* |
| LUSC | TCGA-70-6722-01 | exon_skip_81594 | 44770378 | 44770507 | 44770376 | 44770376 | Splice_Site | A | G | p.D257_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-70-6722-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_81594 | |
| Skipped exon start: 44770378 | |
| Skipped exon end: 44770507 | |
| Mutation start: 44770376 | |
| Mutation end: 44770376 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: p.D257_splice | |
exon_skip_81594_LUSC_TCGA-70-6722-01.png | |
| - 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 |
| LU99_LUNG | 44338013 | 44338145 | 44338063 | 44338077 | In_Frame_Del | ACAATGTTCTTCAGC | - | p.TMFFS110del |
| HCC515_LUNG | 44338013 | 44338145 | 44338076 | 44338076 | Missense_Mutation | G | T | p.S114I |
| U2OS_BONE | 44338013 | 44338145 | 44338098 | 44338098 | Missense_Mutation | A | G | p.I121M |
| SNU1040_LARGE_INTESTINE | 44338013 | 44338145 | 44338111 | 44338111 | Missense_Mutation | T | C | p.Y126H |
| HT115_LARGE_INTESTINE | 44537328 | 44537427 | 44537360 | 44537360 | Missense_Mutation | G | A | p.R148Q |
| GP5D_LARGE_INTESTINE | 44537328 | 44537427 | 44537375 | 44537375 | Missense_Mutation | T | C | p.M153T |
| PEO1_OVARY | 44605073 | 44605170 | 44605095 | 44605095 | Missense_Mutation | A | G | p.D178G |
| HARA_LUNG | 44605073 | 44605170 | 44605146 | 44605146 | Missense_Mutation | G | A | p.G195E |
| NCIH510_LUNG | 44693363 | 44693522 | 44693446 | 44693446 | Missense_Mutation | T | A | p.F231Y |
| HOP62_LUNG | 44770378 | 44770507 | 44770399 | 44770399 | Missense_Mutation | A | T | p.M264L |
| RL952_ENDOMETRIUM | 44770378 | 44770507 | 44770402 | 44770402 | Nonsense_Mutation | G | T | p.G265* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM117 |
| 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 TMEM117 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM117 |
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RelatedDrugs for TMEM117 |
| 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 TMEM117 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TMEM117 | C0008370 | Cholestasis | 1 | CTD_human |
| TMEM117 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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