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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 TVP23B |
 Gene summary |
| Gene information | Gene symbol | TVP23B | Gene ID | 51030 |
| Gene name | trans-golgi network vesicle protein 23 homolog B | |
| Synonyms | CGI-148|FAM18B|FAM18B1|NPD008|YDR084C | |
| Cytomap | 17p11.2 | |
| Type of gene | protein-coding | |
| Description | Golgi apparatus membrane protein TVP23 homolog Bfamily with sequence similarity 18, member Bfamily with sequence similarity 18, member B1protein FAM18B1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NYZ1 | |
| Context | PubMed: TVP23B [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 TVP23B 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 TVP23B |
| 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 TVP23B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENSG00000171928.9 | ENST00000574294.1 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENSG00000171928.9 | ENST00000575261.1,ENST00000574226.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1 |
| exon_skip_149671 | 17 | 18702124:18702256:18707450:18707579:18708853:18708974 | 18707450:18707579 | ENSG00000171928.9 | ENST00000571018.1,ENST00000574294.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1,ENST00000482741.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TVP23B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENSG00000171928.9 | ENST00000574294.1 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENSG00000171928.9 | ENST00000307767.8,ENST00000574226.1,ENST00000575261.1,ENST00000476139.1,ENST00000581733.1 |
| exon_skip_149671 | 17 | 18702124:18702256:18707450:18707579:18708853:18708974 | 18707450:18707579 | ENSG00000171928.9 | ENST00000307767.8,ENST00000574294.1,ENST00000571018.1,ENST00000476139.1,ENST00000581733.1,ENST00000482741.1 |
| 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 TVP23B |
| 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 |
| ENST00000307767 | 18694208 | 18694353 | Frame-shift |
| ENST00000307767 | 18707450 | 18707579 | 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 |
| ENST00000307767 | 18694208 | 18694353 | Frame-shift |
| ENST00000307767 | 18707450 | 18707579 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TVP23B |
| 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 |
| ENST00000307767 | 2081 | 205 | 18707450 | 18707579 | 762 | 890 | 154 | 197 |
| 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 |
| ENST00000307767 | 2081 | 205 | 18707450 | 18707579 | 762 | 890 | 154 | 197 |
| 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 |
| Q9NYZ1 | 154 | 197 | 1 | 205 | Chain | ID=PRO_0000212828;Note=Golgi apparatus membrane protein TVP23 homolog B |
| Q9NYZ1 | 154 | 197 | 152 | 172 | 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 |
| Q9NYZ1 | 154 | 197 | 1 | 205 | Chain | ID=PRO_0000212828;Note=Golgi apparatus membrane protein TVP23 homolog B |
| Q9NYZ1 | 154 | 197 | 152 | 172 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for TVP23B |
| - 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 |
| LUAD | TCGA-55-6979-01 | exon_skip_149665 | 18694209 | 18694273 | 18694214 | 18694215 | Frame_Shift_Del | CA | - | p.P34fs |
| LUAD | TCGA-55-6979-01 | exon_skip_149667 | 18694209 | 18694353 | 18694214 | 18694215 | Frame_Shift_Del | CA | - | p.P34fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_149665 | 18694209 | 18694273 | 18694243 | 18694243 | Nonsense_Mutation | C | T | p.R44* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_149665 | 18694209 | 18694273 | 18694243 | 18694243 | Nonsense_Mutation | C | T | p.R44X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_149667 | 18694209 | 18694353 | 18694243 | 18694243 | Nonsense_Mutation | C | T | p.R44* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_149667 | 18694209 | 18694353 | 18694243 | 18694243 | Nonsense_Mutation | C | T | p.R44X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-ND-A4WC-01 |
| Cancer type: UCS | |
| ESID: exon_skip_149665 | |
| Skipped exon start: 18694209 | |
| Skipped exon end: 18694273 | |
| Mutation start: 18694243 | |
| Mutation end: 18694243 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R44X | |
| Sample: TCGA-ND-A4WC-01 |
| Cancer type: UCS | |
| ESID: exon_skip_149667 | |
| Skipped exon start: 18694209 | |
| Skipped exon end: 18694353 | |
| Mutation start: 18694243 | |
| Mutation end: 18694243 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R44X | |
| Sample: TCGA-ND-A4WC-01 |
| Cancer type: UCS | |
| ESID: exon_skip_149665 | |
| Skipped exon start: 18694209 | |
| Skipped exon end: 18694273 | |
| Mutation start: 18694243 | |
| Mutation end: 18694243 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R44* | |
| Sample: TCGA-ND-A4WC-01 |
| Cancer type: UCS | |
| ESID: exon_skip_149667 | |
| Skipped exon start: 18694209 | |
| Skipped exon end: 18694353 | |
| Mutation start: 18694243 | |
| Mutation end: 18694243 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R44* | |
exon_skip_149665_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_299626_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_344918_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_360263_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_382353_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_385882_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_443509_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_45962_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_48320_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_484856_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_59444_UCS_TCGA-ND-A4WC-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 |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18694209 | 18694353 | 18694301 | 18694301 | Missense_Mutation | C | T | p.T63I |
| HEC108_ENDOMETRIUM | 18707451 | 18707579 | 18707505 | 18707505 | Missense_Mutation | A | G | p.R173G |
| NCIH2196_LUNG | 18707451 | 18707579 | 18707575 | 18707575 | Missense_Mutation | G | T | p.R196I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TVP23B |
| 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 |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENST00000574294.1 | GBM | rs61075345 | chr17:18694277 | G/A | 3.21e-05 |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENST00000574294.1 | COAD | rs61075345 | chr17:18694277 | G/A | 3.35e-04 |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENST00000574294.1 | ESCA | rs61075345 | chr17:18694277 | G/A | 4.41e-04 |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENST00000574294.1 | HNSC | rs61075345 | chr17:18694277 | G/A | 2.24e-05 |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENST00000574294.1 | KIRP | rs61075345 | chr17:18694277 | G/A | 6.77e-05 |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENST00000574294.1 | LGG | rs61075345 | chr17:18694277 | G/A | 2.61e-07 |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENST00000574294.1 | KIRC | rs61075345 | chr17:18694277 | G/A | 4.27e-05 |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENST00000574294.1 | LUAD | rs61075345 | chr17:18694277 | G/A | 6.69e-05 |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENST00000574294.1 | PRAD | rs61075345 | chr17:18694277 | G/A | 2.32e-03 |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENST00000574294.1 | STAD | rs61075345 | chr17:18694277 | G/A | 5.17e-04 |
| exon_skip_149665 | 17 | 18692675:18692748:18694208:18694273:18700891:18700981 | 18694208:18694273 | ENST00000574294.1 | THCA | rs61075345 | chr17:18694277 | G/A | 2.92e-04 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENST00000575261.1,ENST00000574226.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1 | GBM | rs61075345 | chr17:18694277 | G/A | 3.21e-05 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENST00000575261.1,ENST00000574226.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1 | COAD | rs61075345 | chr17:18694277 | G/A | 3.35e-04 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENST00000575261.1,ENST00000574226.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1 | ESCA | rs61075345 | chr17:18694277 | G/A | 4.41e-04 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENST00000575261.1,ENST00000574226.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1 | HNSC | rs61075345 | chr17:18694277 | G/A | 2.24e-05 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENST00000575261.1,ENST00000574226.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1 | KIRP | rs61075345 | chr17:18694277 | G/A | 6.77e-05 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENST00000575261.1,ENST00000574226.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1 | LGG | rs61075345 | chr17:18694277 | G/A | 2.61e-07 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENST00000575261.1,ENST00000574226.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1 | KIRC | rs61075345 | chr17:18694277 | G/A | 4.27e-05 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENST00000575261.1,ENST00000574226.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1 | LUAD | rs61075345 | chr17:18694277 | G/A | 6.69e-05 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENST00000575261.1,ENST00000574226.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1 | PRAD | rs61075345 | chr17:18694277 | G/A | 2.32e-03 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENST00000575261.1,ENST00000574226.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1 | STAD | rs61075345 | chr17:18694277 | G/A | 5.17e-04 |
| exon_skip_149667 | 17 | 18692675:18692748:18694208:18694353:18700891:18700981 | 18694208:18694353 | ENST00000575261.1,ENST00000574226.1,ENST00000307767.8,ENST00000476139.1,ENST00000581733.1 | THCA | rs61075345 | chr17:18694277 | G/A | 2.92e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TVP23B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TVP23B |
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RelatedDrugs for TVP23B |
| 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 TVP23B |
| 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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