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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 TAB2 |
 Gene summary |
| Gene information | Gene symbol | TAB2 | Gene ID | 23118 |
| Gene name | TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | |
| Synonyms | CHTD2|MAP3K7IP2|TAB-2 | |
| Cytomap | 6q25.1 | |
| Type of gene | protein-coding | |
| Description | TGF-beta-activated kinase 1 and MAP3K7-binding protein 2TAK1-binding protein 2mitogen-activated protein kinase kinase kinase 7-interacting protein 2 | |
| Modification date | 20180522 | |
| UniProtAcc | Q9NYJ8 | |
| Context | PubMed: TAB2 [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 |
| TAB2 | GO:0045860 | positive regulation of protein kinase activity | 11460167 |
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Exon skipping events across known transcript of Ensembl for TAB2 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 TAB2 |
| 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 TAB2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_454700 | 6 | 149639062:149639151:149691044:149691235:149699153:149699665 | 149691044:149691235 | ENSG00000055208.13 | ENST00000392282.1 |
| exon_skip_454707 | 6 | 149663948:149663969:149667613:149667732:149668306:149668361 | 149667613:149667732 | ENSG00000055208.13 | ENST00000461481.1 |
| exon_skip_454710 | 6 | 149663948:149663969:149691044:149691235:149699153:149699665 | 149691044:149691235 | ENSG00000055208.13 | ENST00000470466.1,ENST00000367456.1,ENST00000538427.1 |
| exon_skip_454713 | 6 | 149691044:149691235:149699153:149700654:149718739:149718900 | 149699153:149700654 | ENSG00000055208.13 | ENST00000286332.5,ENST00000367456.1,ENST00000538427.1 |
| exon_skip_454714 | 6 | 149700546:149700654:149701069:149701279:149718739:149718900 | 149701069:149701279 | ENSG00000055208.13 | ENST00000470466.1 |
| exon_skip_454716 | 6 | 149718739:149718900:149719104:149719198:149720239:149720320 | 149719104:149719198 | ENSG00000055208.13 | ENST00000286332.5,ENST00000470466.1,ENST00000367456.1,ENST00000538427.1,ENST00000536230.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TAB2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_454700 | 6 | 149639062:149639151:149691044:149691235:149699153:149699665 | 149691044:149691235 | ENSG00000055208.13 | ENST00000392282.1 |
| exon_skip_454707 | 6 | 149663948:149663969:149667613:149667732:149668306:149668361 | 149667613:149667732 | ENSG00000055208.13 | ENST00000461481.1 |
| exon_skip_454710 | 6 | 149663948:149663969:149691044:149691235:149699153:149699665 | 149691044:149691235 | ENSG00000055208.13 | ENST00000538427.1,ENST00000367456.1,ENST00000470466.1 |
| exon_skip_454713 | 6 | 149691044:149691235:149699153:149700654:149718739:149718900 | 149699153:149700654 | ENSG00000055208.13 | ENST00000538427.1,ENST00000367456.1,ENST00000286332.5 |
| exon_skip_454714 | 6 | 149700546:149700654:149701069:149701279:149718739:149718900 | 149701069:149701279 | ENSG00000055208.13 | ENST00000470466.1 |
| exon_skip_454716 | 6 | 149718739:149718900:149719104:149719198:149720239:149720320 | 149719104:149719198 | ENSG00000055208.13 | ENST00000536230.1,ENST00000538427.1,ENST00000367456.1,ENST00000470466.1,ENST00000286332.5 |
| 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 TAB2 |
| 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 |
| ENST00000367456 | 149691044 | 149691235 | 5CDS-5UTR |
| ENST00000538427 | 149691044 | 149691235 | 5CDS-5UTR |
| ENST00000367456 | 149699153 | 149700654 | Frame-shift |
| ENST00000538427 | 149699153 | 149700654 | Frame-shift |
| ENST00000367456 | 149719104 | 149719198 | Frame-shift |
| ENST00000538427 | 149719104 | 149719198 | 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 |
| ENST00000367456 | 149691044 | 149691235 | 5CDS-5UTR |
| ENST00000538427 | 149691044 | 149691235 | 5CDS-5UTR |
| ENST00000367456 | 149699153 | 149700654 | Frame-shift |
| ENST00000538427 | 149699153 | 149700654 | Frame-shift |
| ENST00000367456 | 149719104 | 149719198 | Frame-shift |
| ENST00000538427 | 149719104 | 149719198 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TAB2 |
| 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 TAB2 |
| - 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-G3-A3CJ-01 | exon_skip_454713 | 149699154 | 149700654 | 149699252 | 149699252 | Frame_Shift_Del | A | - | p.G67fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_454713 | 149699154 | 149700654 | 149700017 | 149700017 | Frame_Shift_Del | A | - | p.R322fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_454713 | 149699154 | 149700654 | 149700167 | 149700167 | Frame_Shift_Del | C | - | p.S372fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_454713 | 149699154 | 149700654 | 149700167 | 149700167 | Frame_Shift_Del | C | - | p.S372fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_454713 | 149699154 | 149700654 | 149700423 | 149700423 | Frame_Shift_Del | C | - | p.P458fs |
| BRCA | TCGA-A8-A07G-01 | exon_skip_454713 | 149699154 | 149700654 | 149699358 | 149699359 | Frame_Shift_Ins | - | T | p.T104fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_454713 | 149699154 | 149700654 | 149699497 | 149699498 | Frame_Shift_Ins | - | A | p.S149fs |
| LIHC | TCGA-DD-AAEK-01 | exon_skip_454713 | 149699154 | 149700654 | 149699603 | 149699604 | Frame_Shift_Ins | - | A | p.N184fs |
| KIRC | TCGA-CW-6093-01 | exon_skip_454713 | 149699154 | 149700654 | 149699871 | 149699872 | Frame_Shift_Ins | - | T | p.N274fs |
| KIRC | TCGA-CW-6093-01 | exon_skip_454713 | 149699154 | 149700654 | 149699871 | 149699872 | Frame_Shift_Ins | - | T | p.S274fs |
| KIRC | TCGA-AK-3443-01 | exon_skip_454713 | 149699154 | 149700654 | 149700166 | 149700167 | Frame_Shift_Ins | - | C | p.T372fs |
| LUAD | TCGA-67-3771-01 | exon_skip_454713 | 149699154 | 149700654 | 149700166 | 149700167 | Frame_Shift_Ins | - | C | p.T372fs |
| UCEC | TCGA-AX-A060-01 | exon_skip_454713 | 149699154 | 149700654 | 149700166 | 149700167 | Frame_Shift_Ins | - | C | p.S372fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_454713 | 149699154 | 149700654 | 149700166 | 149700167 | Frame_Shift_Ins | - | C | p.S372fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_454713 | 149699154 | 149700654 | 149700386 | 149700387 | Frame_Shift_Ins | - | A | p.N445fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_454710 exon_skip_454700 | 149691045 | 149691235 | 149691182 | 149691182 | Nonsense_Mutation | C | T | p.R17* |
| UCEC | TCGA-BG-A0M4-01 | exon_skip_454713 | 149699154 | 149700654 | 149699322 | 149699322 | Nonsense_Mutation | G | T | p.G91* |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_454713 | 149699154 | 149700654 | 149699331 | 149699331 | Nonsense_Mutation | G | T | p.G94* |
| BLCA | TCGA-ZF-A9RL-01 | exon_skip_454713 | 149699154 | 149700654 | 149700405 | 149700405 | Nonsense_Mutation | C | T | p.R452* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_454713 | 149699154 | 149700654 | 149700405 | 149700405 | Nonsense_Mutation | C | T | p.R452* |
| LUAD | TCGA-05-4432-01 | exon_skip_454713 | 149699154 | 149700654 | 149700627 | 149700627 | Nonsense_Mutation | G | T | p.G526* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_454716 | 149719105 | 149719198 | 149719195 | 149719195 | Nonsense_Mutation | C | T | p.R619* |
| - 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 |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 149691045 | 149691235 | 149691141 | 149691141 | Frame_Shift_Del | A | - | p.Q3fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 149699154 | 149700654 | 149699339 | 149699340 | Frame_Shift_Del | GA | - | p.RM96fs |
| OC316_OVARY | 149699154 | 149700654 | 149699467 | 149699467 | Frame_Shift_Del | T | - | p.V139fs |
| OC314_OVARY | 149699154 | 149700654 | 149699467 | 149699467 | Frame_Shift_Del | T | - | p.V139fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 149699154 | 149700654 | 149699336 | 149699337 | Frame_Shift_Ins | - | CG | p.R96fs |
| TC71_BONE | 149691045 | 149691235 | 149691183 | 149691183 | Missense_Mutation | G | A | p.R17Q |
| EN_ENDOMETRIUM | 149691045 | 149691235 | 149691183 | 149691183 | Missense_Mutation | G | A | p.R17Q |
| HLE_LIVER | 149691045 | 149691235 | 149691187 | 149691187 | Missense_Mutation | A | C | p.Q18H |
| HRT18_LARGE_INTESTINE | 149699154 | 149700654 | 149699195 | 149699195 | Missense_Mutation | G | T | p.Q48H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 149699154 | 149700654 | 149699246 | 149699246 | Missense_Mutation | T | G | p.D65E |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 149699154 | 149700654 | 149699246 | 149699246 | Missense_Mutation | T | G | p.D65E |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 149699154 | 149700654 | 149699309 | 149699310 | Missense_Mutation | CA | TG | p.I87V |
| MDAMB361_BREAST | 149699154 | 149700654 | 149699404 | 149699404 | Missense_Mutation | A | C | p.N118T |
| NCIH1734_LUNG | 149699154 | 149700654 | 149699494 | 149699494 | Missense_Mutation | C | G | p.A148G |
| AGS_STOMACH | 149699154 | 149700654 | 149699501 | 149699501 | Missense_Mutation | T | G | p.N150K |
| EN_ENDOMETRIUM | 149699154 | 149700654 | 149699642 | 149699642 | Missense_Mutation | A | G | p.I197M |
| NCIH1435_LUNG | 149699154 | 149700654 | 149699752 | 149699752 | Missense_Mutation | G | T | p.G234V |
| NCIH187_LUNG | 149699154 | 149700654 | 149699756 | 149699756 | Missense_Mutation | G | C | p.W235C |
| NCIH820_LUNG | 149699154 | 149700654 | 149699917 | 149699917 | Missense_Mutation | C | T | p.S289L |
| RKN_SOFT_TISSUE | 149699154 | 149700654 | 149700091 | 149700091 | Missense_Mutation | G | A | p.R347Q |
| KU1919_URINARY_TRACT | 149699154 | 149700654 | 149700118 | 149700118 | Missense_Mutation | A | G | p.N356S |
| FUOV1_OVARY | 149699154 | 149700654 | 149700178 | 149700178 | Missense_Mutation | C | T | p.T376M |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 149699154 | 149700654 | 149700187 | 149700187 | Missense_Mutation | T | C | p.L379P |
| KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 149699154 | 149700654 | 149700205 | 149700205 | Missense_Mutation | C | A | p.P385H |
| SH10TC_STOMACH | 149699154 | 149700654 | 149700486 | 149700486 | Missense_Mutation | G | C | p.G479R |
| PATU8988T_PANCREAS | 149699154 | 149700654 | 149700532 | 149700532 | Missense_Mutation | C | G | p.P494R |
| PATU8988S_PANCREAS | 149699154 | 149700654 | 149700532 | 149700532 | Missense_Mutation | C | G | p.P494R |
| IGROV1_OVARY | 149699154 | 149700654 | 149700571 | 149700571 | Missense_Mutation | C | T | p.T507M |
| OVK18_OVARY | 149699154 | 149700654 | 149700591 | 149700591 | Missense_Mutation | G | A | p.V514M |
| HEC251_ENDOMETRIUM | 149719105 | 149719198 | 149719186 | 149719186 | Missense_Mutation | T | G | p.F616V |
| HEC251_ENDOMETRIUM | 149691045 | 149691235 | 149691182 | 149691182 | Nonsense_Mutation | C | T | p.R17* |
| NCIH2135_LUNG | 149719105 | 149719198 | 149719198 | 149719198 | Splice_Site | G | T | p.G620* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TAB2 |
| 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_454707 | 6 | 149663948:149663969:149667613:149667732:149668306:149668361 | 149667613:149667732 | ENST00000461481.1 | COAD | rs4493763 | chr6:149667676 | G/A | 2.87e-04 |
| exon_skip_454707 | 6 | 149663948:149663969:149667613:149667732:149668306:149668361 | 149667613:149667732 | ENST00000461481.1 | BRCA | rs4493763 | chr6:149667676 | G/A | 1.80e-06 |
| exon_skip_454707 | 6 | 149663948:149663969:149667613:149667732:149668306:149668361 | 149667613:149667732 | ENST00000461481.1 | KIRC | rs4493763 | chr6:149667676 | G/A | 4.40e-04 |
| exon_skip_454707 | 6 | 149663948:149663969:149667613:149667732:149668306:149668361 | 149667613:149667732 | ENST00000461481.1 | LUAD | rs4493763 | chr6:149667676 | G/A | 1.95e-05 |
| exon_skip_454707 | 6 | 149663948:149663969:149667613:149667732:149668306:149668361 | 149667613:149667732 | ENST00000461481.1 | LUSC | rs4493763 | chr6:149667676 | G/A | 7.87e-05 |
| exon_skip_454707 | 6 | 149663948:149663969:149667613:149667732:149668306:149668361 | 149667613:149667732 | ENST00000461481.1 | SARC | rs4493763 | chr6:149667676 | G/A | 1.19e-06 |
| exon_skip_454707 | 6 | 149663948:149663969:149667613:149667732:149668306:149668361 | 149667613:149667732 | ENST00000461481.1 | THYM | rs4493763 | chr6:149667676 | G/A | 7.46e-04 |
| exon_skip_454707 | 6 | 149663948:149663969:149667613:149667732:149668306:149668361 | 149667613:149667732 | ENST00000461481.1 | STAD | rs4493763 | chr6:149667676 | G/A | 1.01e-04 |
| exon_skip_454707 | 6 | 149663948:149663969:149667613:149667732:149668306:149668361 | 149667613:149667732 | ENST00000461481.1 | THCA | rs4493763 | chr6:149667676 | G/A | 3.68e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TAB2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TAB2 |
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RelatedDrugs for TAB2 |
| 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 TAB2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TAB2 | C3554279 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 | 1 | UNIPROT |
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