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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 TBKBP1 |
 Gene summary |
| Gene information | Gene symbol | TBKBP1 | Gene ID | 9755 |
| Gene name | TBK1 binding protein 1 | |
| Synonyms | ProSAPiP2|SINTBAD | |
| Cytomap | 17q21.32 | |
| Type of gene | protein-coding | |
| Description | TANK-binding kinase 1-binding protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | A7MCY6 | |
| Context | PubMed: TBKBP1 [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 TBKBP1 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 TBKBP1 |
| 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 TBKBP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_153685 | 17 | 45775960:45776141:45776685:45776861:45777001:45777063 | 45776685:45776861 | ENSG00000198933.5 | ENST00000361722.3 |
| exon_skip_153690 | 17 | 45785759:45785878:45786090:45786818:45787863:45789416 | 45786090:45786818 | ENSG00000198933.5 | ENST00000361722.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TBKBP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_153685 | 17 | 45775960:45776141:45776685:45776861:45777001:45777063 | 45776685:45776861 | ENSG00000198933.5 | ENST00000361722.3 |
| exon_skip_153690 | 17 | 45785759:45785878:45786090:45786818:45787863:45789416 | 45786090:45786818 | ENSG00000198933.5 | ENST00000361722.3 |
| 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 TBKBP1 |
| 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 |
| ENST00000361722 | 45776685 | 45776861 | Frame-shift |
| ENST00000361722 | 45786090 | 45786818 | 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 |
| ENST00000361722 | 45776685 | 45776861 | Frame-shift |
| ENST00000361722 | 45786090 | 45786818 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TBKBP1 |
| 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 TBKBP1 |
| - 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-17-Z018-01 | exon_skip_153685 | 45776686 | 45776861 | 45776772 | 45776773 | Frame_Shift_Ins | - | G | p.G241fs |
| LUAD | TCGA-95-7562-01 | exon_skip_153685 | 45776686 | 45776861 | 45776824 | 45776825 | Frame_Shift_Ins | - | G | p.R258fs |
| THCA | TCGA-EM-A3FJ-01 | exon_skip_153690 | 45786091 | 45786818 | 45786123 | 45786124 | Frame_Shift_Ins | - | C | p.P342fs |
| CHOL | TCGA-ZD-A8I3-01 | exon_skip_153690 | 45786091 | 45786818 | 45786129 | 45786130 | Frame_Shift_Ins | - | C | p.P344fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EM-A3FJ-01 |
| Cancer type: THCA | |
| ESID: exon_skip_153690 | |
| Skipped exon start: 45786091 | |
| Skipped exon end: 45786818 | |
| Mutation start: 45786123 | |
| Mutation end: 45786124 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.P342fs | |
exon_skip_153690_THCA_TCGA-EM-A3FJ-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 |
| DOV13_OVARY | 45786091 | 45786818 | 45786568 | 45786568 | Frame_Shift_Del | G | - | p.R490fs |
| HMY1_SKIN | 45786091 | 45786818 | 45786129 | 45786130 | Frame_Shift_Ins | - | C | p.A344fs |
| SNU1040_LARGE_INTESTINE | 45776686 | 45776861 | 45776713 | 45776713 | Missense_Mutation | T | C | p.V221A |
| LS411N_LARGE_INTESTINE | 45776686 | 45776861 | 45776757 | 45776757 | Missense_Mutation | G | A | p.A236T |
| 22RV1_PROSTATE | 45776686 | 45776861 | 45776818 | 45776818 | Missense_Mutation | G | A | p.R256Q |
| 8MGBA_CENTRAL_NERVOUS_SYSTEM | 45776686 | 45776861 | 45776853 | 45776853 | Missense_Mutation | C | T | p.R268W |
| NCIH2110_LUNG | 45786091 | 45786818 | 45786122 | 45786122 | Missense_Mutation | C | A | p.H341Q |
| CHLA266_SOFT_TISSUE | 45786091 | 45786818 | 45786144 | 45786144 | Missense_Mutation | T | C | p.S349P |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45786091 | 45786818 | 45786307 | 45786307 | Missense_Mutation | C | T | p.P403L |
| SNU1077_ENDOMETRIUM | 45786091 | 45786818 | 45786523 | 45786523 | Missense_Mutation | C | T | p.S475F |
| T84_LARGE_INTESTINE | 45786091 | 45786818 | 45786549 | 45786549 | Missense_Mutation | G | T | p.A484S |
| VMCUB1_URINARY_TRACT | 45786091 | 45786818 | 45786604 | 45786604 | Missense_Mutation | C | T | p.P502L |
| KURAMOCHI_OVARY | 45786091 | 45786818 | 45786643 | 45786643 | Missense_Mutation | G | C | p.R515P |
| AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45786091 | 45786818 | 45786672 | 45786672 | Missense_Mutation | G | C | p.E525Q |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45786091 | 45786818 | 45786742 | 45786742 | Missense_Mutation | G | A | p.G548D |
| NCIH1573_LUNG | 45786091 | 45786818 | 45786774 | 45786774 | Missense_Mutation | G | A | p.A559T |
| HCT15_LARGE_INTESTINE | 45786091 | 45786818 | 45786240 | 45786240 | Nonsense_Mutation | C | T | p.Q381* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBKBP1 |
| 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 TBKBP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBKBP1 |
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RelatedDrugs for TBKBP1 |
| 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 TBKBP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TBKBP1 | C0038013 | Ankylosing spondylitis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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