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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 TBC1D19 |
 Gene summary |
| Gene information | Gene symbol | TBC1D19 | Gene ID | 55296 |
| Gene name | TBC1 domain family member 19 | |
| Synonyms | - | |
| Cytomap | 4p15.2 | |
| Type of gene | protein-coding | |
| Description | TBC1 domain family member 19 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N5T2 | |
| Context | PubMed: TBC1D19 [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 TBC1D19 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 TBC1D19 |
| 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 TBC1D19 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_422924 | 4 | 26585903:26585914:26614790:26614863:26616029:26616075 | 26614790:26614863 | ENSG00000109680.6 | ENST00000264866.4,ENST00000502873.1,ENST00000515568.1 |
| exon_skip_422930 | 4 | 26616029:26616075:26622234:26622310:26638832:26638907 | 26622234:26622310 | ENSG00000109680.6 | ENST00000512840.1,ENST00000264866.4,ENST00000513596.1,ENST00000502873.1,ENST00000504442.1,ENST00000515568.1 |
| exon_skip_422932 | 4 | 26641762:26641809:26661218:26661329:26667954:26668027 | 26661218:26661329 | ENSG00000109680.6 | ENST00000512840.1,ENST00000264866.4,ENST00000505206.1,ENST00000502873.1,ENST00000504442.1,ENST00000511789.1 |
| exon_skip_422935 | 4 | 26685296:26685371:26689966:26690029:26719554:26719639 | 26689966:26690029 | ENSG00000109680.6 | ENST00000264866.4,ENST00000502873.1,ENST00000511789.1 |
| exon_skip_422936 | 4 | 26689966:26690029:26719554:26719639:26721702:26721747 | 26719554:26719639 | ENSG00000109680.6 | ENST00000264866.4,ENST00000502873.1,ENST00000511789.1 |
| exon_skip_422940 | 4 | 26721702:26721747:26737076:26737109:26741485:26741595 | 26737076:26737109 | ENSG00000109680.6 | ENST00000264866.4,ENST00000502873.1,ENST00000511789.1 |
| exon_skip_422946 | 4 | 26741485:26741595:26744129:26744221:26750032:26750148 | 26744129:26744221 | ENSG00000109680.6 | ENST00000264866.4,ENST00000502873.1,ENST00000511789.1 |
| exon_skip_422947 | 4 | 26744129:26744221:26750032:26750148:26755441:26755512 | 26750032:26750148 | ENSG00000109680.6 | ENST00000264866.4,ENST00000502873.1,ENST00000511789.1 |
| exon_skip_422948 | 4 | 26750032:26750148:26755441:26755512:26756494:26756569 | 26755441:26755512 | ENSG00000109680.6 | ENST00000264866.4,ENST00000511789.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TBC1D19 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_422924 | 4 | 26585903:26585914:26614790:26614863:26616029:26616075 | 26614790:26614863 | ENSG00000109680.6 | ENST00000264866.4,ENST00000502873.1,ENST00000515568.1 |
| exon_skip_422930 | 4 | 26616029:26616075:26622234:26622310:26638832:26638907 | 26622234:26622310 | ENSG00000109680.6 | ENST00000512840.1,ENST00000504442.1,ENST00000264866.4,ENST00000502873.1,ENST00000515568.1,ENST00000513596.1 |
| exon_skip_422932 | 4 | 26641762:26641809:26661218:26661329:26667954:26668027 | 26661218:26661329 | ENSG00000109680.6 | ENST00000512840.1,ENST00000504442.1,ENST00000264866.4,ENST00000502873.1,ENST00000505206.1,ENST00000511789.1 |
| exon_skip_422935 | 4 | 26685296:26685371:26689966:26690029:26719554:26719639 | 26689966:26690029 | ENSG00000109680.6 | ENST00000264866.4,ENST00000502873.1,ENST00000511789.1 |
| exon_skip_422936 | 4 | 26689966:26690029:26719554:26719639:26721702:26721747 | 26719554:26719639 | ENSG00000109680.6 | ENST00000264866.4,ENST00000502873.1,ENST00000511789.1 |
| exon_skip_422940 | 4 | 26721702:26721747:26737076:26737109:26741485:26741595 | 26737076:26737109 | ENSG00000109680.6 | ENST00000264866.4,ENST00000502873.1,ENST00000511789.1 |
| exon_skip_422946 | 4 | 26741485:26741595:26744129:26744221:26750032:26750148 | 26744129:26744221 | ENSG00000109680.6 | ENST00000264866.4,ENST00000502873.1,ENST00000511789.1 |
| exon_skip_422947 | 4 | 26744129:26744221:26750032:26750148:26755441:26755512 | 26750032:26750148 | ENSG00000109680.6 | ENST00000264866.4,ENST00000502873.1,ENST00000511789.1 |
| exon_skip_422948 | 4 | 26750032:26750148:26755441:26755512:26756494:26756569 | 26755441:26755512 | ENSG00000109680.6 | ENST00000264866.4,ENST00000511789.1 |
| 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 TBC1D19 |
| 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 |
| ENST00000264866 | 26614790 | 26614863 | Frame-shift |
| ENST00000264866 | 26622234 | 26622310 | Frame-shift |
| ENST00000264866 | 26719554 | 26719639 | Frame-shift |
| ENST00000264866 | 26744129 | 26744221 | Frame-shift |
| ENST00000264866 | 26750032 | 26750148 | Frame-shift |
| ENST00000264866 | 26755441 | 26755512 | Frame-shift |
| ENST00000264866 | 26661218 | 26661329 | In-frame |
| ENST00000264866 | 26689966 | 26690029 | In-frame |
| ENST00000264866 | 26737076 | 26737109 | 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 |
| ENST00000264866 | 26614790 | 26614863 | Frame-shift |
| ENST00000264866 | 26622234 | 26622310 | Frame-shift |
| ENST00000264866 | 26719554 | 26719639 | Frame-shift |
| ENST00000264866 | 26744129 | 26744221 | Frame-shift |
| ENST00000264866 | 26750032 | 26750148 | Frame-shift |
| ENST00000264866 | 26755441 | 26755512 | Frame-shift |
| ENST00000264866 | 26661218 | 26661329 | In-frame |
| ENST00000264866 | 26689966 | 26690029 | In-frame |
| ENST00000264866 | 26737076 | 26737109 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TBC1D19 |
| 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 |
| ENST00000264866 | 2280 | 526 | 26661218 | 26661329 | 759 | 869 | 160 | 197 |
| ENST00000264866 | 2280 | 526 | 26689966 | 26690029 | 1170 | 1232 | 297 | 318 |
| ENST00000264866 | 2280 | 526 | 26737076 | 26737109 | 1363 | 1395 | 361 | 372 |
| 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 |
| ENST00000264866 | 2280 | 526 | 26661218 | 26661329 | 759 | 869 | 160 | 197 |
| ENST00000264866 | 2280 | 526 | 26689966 | 26690029 | 1170 | 1232 | 297 | 318 |
| ENST00000264866 | 2280 | 526 | 26737076 | 26737109 | 1363 | 1395 | 361 | 372 |
| 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 |
| Q8N5T2 | 160 | 197 | 1 | 526 | Chain | ID=PRO_0000208047;Note=TBC1 domain family member 19 |
| Q8N5T2 | 160 | 197 | 176 | 176 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N5T2 | 297 | 318 | 1 | 526 | Chain | ID=PRO_0000208047;Note=TBC1 domain family member 19 |
| Q8N5T2 | 297 | 318 | 251 | 472 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
| Q8N5T2 | 361 | 372 | 1 | 526 | Chain | ID=PRO_0000208047;Note=TBC1 domain family member 19 |
| Q8N5T2 | 361 | 372 | 251 | 472 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
| 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 |
| Q8N5T2 | 160 | 197 | 1 | 526 | Chain | ID=PRO_0000208047;Note=TBC1 domain family member 19 |
| Q8N5T2 | 160 | 197 | 176 | 176 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N5T2 | 297 | 318 | 1 | 526 | Chain | ID=PRO_0000208047;Note=TBC1 domain family member 19 |
| Q8N5T2 | 297 | 318 | 251 | 472 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
| Q8N5T2 | 361 | 372 | 1 | 526 | Chain | ID=PRO_0000208047;Note=TBC1 domain family member 19 |
| Q8N5T2 | 361 | 372 | 251 | 472 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
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SNVs in the skipped exons for TBC1D19 |
| - 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. |
TBC1D19_LUSC_exon_skip_422935_psi_boxplot.png |
| - 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_422924 | 26614791 | 26614863 | 26614854 | 26614854 | Frame_Shift_Del | A | - | p.K55fs |
| COAD | TCGA-AZ-4315-01 | exon_skip_422930 | 26622235 | 26622310 | 26622281 | 26622281 | Nonsense_Mutation | G | T | p.E89X |
| SKCM | TCGA-FR-A44A-06 | exon_skip_422932 | 26661219 | 26661329 | 26661294 | 26661294 | Nonsense_Mutation | C | T | p.Q186* |
| SKCM | TCGA-FR-A44A-06 | exon_skip_422932 | 26661219 | 26661329 | 26661294 | 26661294 | Nonsense_Mutation | C | T | p.Q186X |
| LIHC | TCGA-CC-A8HV-01 | exon_skip_422932 | 26661219 | 26661329 | 26661312 | 26661312 | Nonsense_Mutation | A | T | p.K192X |
| LUSC | TCGA-66-2770-01 | exon_skip_422935 | 26689967 | 26690029 | 26689973 | 26689973 | Nonsense_Mutation | A | T | p.K300* |
| ESCA | TCGA-IG-A3Y9-01 | exon_skip_422946 | 26744130 | 26744221 | 26744169 | 26744169 | Nonsense_Mutation | C | T | p.Q423* |
| ESCA | TCGA-IG-A3Y9-01 | exon_skip_422946 | 26744130 | 26744221 | 26744169 | 26744169 | Nonsense_Mutation | C | T | p.Q423X |
| LUAD | TCGA-50-5931-01 | exon_skip_422946 | 26744130 | 26744221 | 26744202 | 26744202 | Nonsense_Mutation | C | T | p.R434* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_422930 | 26622235 | 26622310 | 26622234 | 26622234 | Splice_Site | G | T | e4-1 |
| LUAD | TCGA-64-5775-01 | exon_skip_422932 | 26661219 | 26661329 | 26661218 | 26661219 | Splice_Site | GG | TT | p.V161_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-66-2770-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_422935 | |
| Skipped exon start: 26689967 | |
| Skipped exon end: 26690029 | |
| Mutation start: 26689973 | |
| Mutation end: 26689973 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: A | |
| Mutation seq: T | |
| AAchange: p.K300* | |
exon_skip_422935_LUSC_TCGA-66-2770-01.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 |
| HEC108_ENDOMETRIUM | 26744130 | 26744221 | 26744184 | 26744185 | Frame_Shift_Ins | - | A | p.Q428fs |
| K2_SKIN | 26622235 | 26622310 | 26622248 | 26622248 | Missense_Mutation | A | T | p.S78C |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26661219 | 26661329 | 26661235 | 26661235 | Missense_Mutation | G | A | p.R166H |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26661219 | 26661329 | 26661235 | 26661235 | Missense_Mutation | G | A | p.R166H |
| HLFA_FIBROBLAST | 26661219 | 26661329 | 26661241 | 26661241 | Missense_Mutation | C | G | p.P168R |
| NCIH211_LUNG | 26661219 | 26661329 | 26661272 | 26661272 | Missense_Mutation | C | G | p.F178L |
| NCIH1568_LUNG | 26661219 | 26661329 | 26661275 | 26661275 | Missense_Mutation | G | C | p.R179S |
| HUH6_LIVER | 26689967 | 26690029 | 26690019 | 26690019 | Missense_Mutation | A | G | p.Y315C |
| HUH6CLONE5_LIVER | 26689967 | 26690029 | 26690019 | 26690019 | Missense_Mutation | A | G | p.Y315C |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26719555 | 26719639 | 26719573 | 26719573 | Missense_Mutation | C | T | p.R325W |
| BT549_BREAST | 26719555 | 26719639 | 26719612 | 26719612 | Missense_Mutation | G | T | p.A338S |
| 127399_SOFT_TISSUE | 26719555 | 26719639 | 26719616 | 26719616 | Missense_Mutation | C | T | p.S339L |
| TC138_BONE | 26719555 | 26719639 | 26719616 | 26719616 | Missense_Mutation | C | T | p.S339L |
| SW1573_LUNG | 26719555 | 26719639 | 26719622 | 26719622 | Missense_Mutation | C | G | p.P341R |
| HCT15_LARGE_INTESTINE | 26737077 | 26737109 | 26737095 | 26737095 | Missense_Mutation | G | T | p.G368V |
| SW780_URINARY_TRACT | 26737077 | 26737109 | 26737104 | 26737104 | Missense_Mutation | T | C | p.M371T |
| U2OS_BONE | 26744130 | 26744221 | 26744166 | 26744166 | Missense_Mutation | C | T | p.L422F |
| HCC2450_LUNG | 26744130 | 26744221 | 26744217 | 26744217 | Missense_Mutation | C | G | p.Q439E |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26750033 | 26750148 | 26750100 | 26750100 | Missense_Mutation | C | T | p.L463F |
| CCK81_LARGE_INTESTINE | 26755442 | 26755512 | 26755472 | 26755472 | Missense_Mutation | C | T | p.A489V |
| NCIH2342_LUNG | 26661219 | 26661329 | 26661294 | 26661294 | Nonsense_Mutation | C | T | p.Q186* |
| HCC2218_BREAST | 26744130 | 26744221 | 26744202 | 26744202 | Nonsense_Mutation | C | T | p.R434* |
| JHUEM7_ENDOMETRIUM | 26744130 | 26744221 | 26744205 | 26744205 | Nonsense_Mutation | G | T | p.E435* |
| KM12_LARGE_INTESTINE | 26719555 | 26719639 | 26719556 | 26719556 | Splice_Site | T | C | p.V319A |
| NCIH740_LUNG | 26737077 | 26737109 | 26737078 | 26737078 | Splice_Site | T | G | p.G362G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBC1D19 |
| 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 TBC1D19 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBC1D19 |
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RelatedDrugs for TBC1D19 |
| 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 TBC1D19 |
| 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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