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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 TMEM170B |
 Gene summary |
| Gene information | Gene symbol | TMEM170B | Gene ID | 100113407 |
| Gene name | transmembrane protein 170B | |
| Synonyms | - | |
| Cytomap | 6p24.2 | |
| Type of gene | protein-coding | |
| Description | transmembrane protein 170B | |
| Modification date | 20180404 | |
| UniProtAcc | Q5T4T1 | |
| Context | PubMed: TMEM170B [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 TMEM170B 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 TMEM170B |
| 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 TMEM170B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_447955 | 6 | 11538510:11538607:11565898:11566069:11575663:11575876 | 11565898:11566069 | ENSG00000205269.4 | ENST00000379426.1,ENST00000543875.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TMEM170B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_447955 | 6 | 11538510:11538607:11565898:11566069:11575663:11575876 | 11565898:11566069 | ENSG00000205269.4 | ENST00000543875.1,ENST00000379426.1 |
| 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 TMEM170B |
| 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 |
| ENST00000379426 | 11565898 | 11566069 | 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 |
| ENST00000379426 | 11565898 | 11566069 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TMEM170B |
| 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 |
| ENST00000379426 | 8379 | 132 | 11565898 | 11566069 | 98 | 268 | 32 | 89 |
| 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 |
| ENST00000379426 | 8379 | 132 | 11565898 | 11566069 | 98 | 268 | 32 | 89 |
| 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 |
| Q5T4T1 | 32 | 89 | 1 | 132 | Chain | ID=PRO_0000342267;Note=Transmembrane protein 170B |
| Q5T4T1 | 32 | 89 | 1 | 37 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T4T1 | 32 | 89 | 59 | 68 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T4T1 | 32 | 89 | 38 | 58 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T4T1 | 32 | 89 | 69 | 89 | 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 |
| Q5T4T1 | 32 | 89 | 1 | 132 | Chain | ID=PRO_0000342267;Note=Transmembrane protein 170B |
| Q5T4T1 | 32 | 89 | 1 | 37 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T4T1 | 32 | 89 | 59 | 68 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T4T1 | 32 | 89 | 38 | 58 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T4T1 | 32 | 89 | 69 | 89 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for TMEM170B |
| - 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 |
| HNSC | TCGA-CV-7242-01 | exon_skip_447955 | 11565899 | 11566069 | 11565999 | 11565999 | Frame_Shift_Del | G | - | p.Q66fs |
| - 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 |
| JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 11565899 | 11566069 | 11565903 | 11565903 | Missense_Mutation | G | A | p.M34I |
| MRKNU1_BREAST | 11565899 | 11566069 | 11565938 | 11565938 | Missense_Mutation | C | T | p.S46F |
| HEC251_ENDOMETRIUM | 11565899 | 11566069 | 11565943 | 11565943 | Missense_Mutation | T | C | p.F48L |
| NCIH64_LUNG | 11565899 | 11566069 | 11565944 | 11565944 | Missense_Mutation | T | G | p.F48C |
| SNU1040_LARGE_INTESTINE | 11565899 | 11566069 | 11565991 | 11565991 | Missense_Mutation | C | T | p.H64Y |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 11565899 | 11566069 | 11566030 | 11566030 | Missense_Mutation | A | C | p.I77L |
| SARC9371_BONE | 11565899 | 11566069 | 11565912 | 11565912 | Nonsense_Mutation | G | A | p.W37* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM170B |
| 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 TMEM170B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM170B |
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RelatedDrugs for TMEM170B |
| 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 TMEM170B |
| 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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