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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 IBTK |
Gene summary |
| Gene information | Gene symbol | IBTK | Gene ID | 25998 |
| Gene name | inhibitor of Bruton tyrosine kinase | |
| Synonyms | BTBD26|BTKI | |
| Cytomap | 6q14.1 | |
| Type of gene | protein-coding | |
| Description | inhibitor of Bruton tyrosine kinaseBTK-binding proteinBruton agammaglobulinemia tyrosine kinase inhibitorinhibitor of Bruton's tyrosine kinase-alphainhibitor of Bruton's tyrosine kinase-betainhibitor of Bruton's tyrosine kinase-gamma | |
| Modification date | 20180519 | |
| UniProtAcc | Q9P2D0 | |
| Context | PubMed: IBTK [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 |
| IBTK | GO:0001933 | negative regulation of protein phosphorylation | 11577348 |
| IBTK | GO:0051209 | release of sequestered calcium ion into cytosol | 11577348 |
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Exon skipping events across known transcript of Ensembl for IBTK 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 IBTK |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for IBTK |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_460687 | 6 | 82882096:82882229:82883083:82883155:82891595:82891745 | 82883083:82883155 | ENSG00000005700.10 | ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000445419.2,ENST00000505222.1,ENST00000503631.1 |
| exon_skip_460688 | 6 | 82883083:82883155:82884614:82884719:82891595:82891745 | 82884614:82884719 | ENSG00000005700.10 | ENST00000471036.1 |
| exon_skip_460693 | 6 | 82883083:82883155:82891595:82891745:82900789:82900933 | 82891595:82891745 | ENSG00000005700.10 | ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000445419.2,ENST00000505222.1,ENST00000503631.1 |
| exon_skip_460698 | 6 | 82891595:82891745:82900789:82900933:82901503:82901571 | 82900789:82900933 | ENSG00000005700.10 | ENST00000306270.7,ENST00000503400.1,ENST00000471036.1,ENST00000510291.1,ENST00000445419.2,ENST00000503631.1 |
| exon_skip_460702 | 6 | 82904195:82904359:82906014:82906118:82909857:82909970 | 82906014:82906118 | ENSG00000005700.10 | ENST00000510291.1 |
| exon_skip_460704 | 6 | 82904195:82904359:82906014:82906163:82909857:82909970 | 82906014:82906163 | ENSG00000005700.10 | ENST00000306270.7,ENST00000503400.1,ENST00000369751.2,ENST00000505222.1,ENST00000503631.1 |
| exon_skip_460706 | 6 | 82906014:82906163:82909857:82909970:82910303:82910425 | 82909857:82909970 | ENSG00000005700.10 | ENST00000306270.7,ENST00000503400.1,ENST00000445419.2,ENST00000369751.2,ENST00000505222.1,ENST00000503631.1 |
| exon_skip_460709 | 6 | 82921083:82921121:82921206:82921289:82922423:82922505 | 82921206:82921289 | ENSG00000005700.10 | ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000369751.2,ENST00000505222.1,ENST00000503631.1 |
| exon_skip_460711 | 6 | 82922423:82922510:82923943:82924546:82925792:82925906 | 82923943:82924546 | ENSG00000005700.10 | ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000369751.2 |
| exon_skip_460714 | 6 | 82923943:82924546:82925792:82925967:82927676:82927854 | 82925792:82925967 | ENSG00000005700.10 | ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000369751.2 |
| exon_skip_460716 | 6 | 82941434:82941559:82943875:82943972:82949882:82950282 | 82943875:82943972 | ENSG00000005700.10 | ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000369751.2,ENST00000505222.1,ENST00000503631.1 |
| exon_skip_460720 | 6 | 82943875:82943972:82949882:82950560:82957278:82957388 | 82949882:82950560 | ENSG00000005700.10 | ENST00000503400.1,ENST00000369751.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IBTK |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_460687 | 6 | 82882096:82882229:82883083:82883155:82891595:82891745 | 82883083:82883155 | ENSG00000005700.10 | ENST00000306270.7,ENST00000505222.1,ENST00000445419.2,ENST00000503400.1,ENST00000503631.1,ENST00000510291.1 |
| exon_skip_460688 | 6 | 82883083:82883155:82884614:82884719:82891595:82891745 | 82884614:82884719 | ENSG00000005700.10 | ENST00000471036.1 |
| exon_skip_460693 | 6 | 82883083:82883155:82891595:82891745:82900789:82900933 | 82891595:82891745 | ENSG00000005700.10 | ENST00000306270.7,ENST00000505222.1,ENST00000445419.2,ENST00000503400.1,ENST00000503631.1,ENST00000510291.1 |
| exon_skip_460698 | 6 | 82891595:82891745:82900789:82900933:82901503:82901571 | 82900789:82900933 | ENSG00000005700.10 | ENST00000306270.7,ENST00000445419.2,ENST00000503400.1,ENST00000503631.1,ENST00000510291.1,ENST00000471036.1 |
| exon_skip_460702 | 6 | 82904195:82904359:82906014:82906118:82909857:82909970 | 82906014:82906118 | ENSG00000005700.10 | ENST00000510291.1 |
| exon_skip_460704 | 6 | 82904195:82904359:82906014:82906163:82909857:82909970 | 82906014:82906163 | ENSG00000005700.10 | ENST00000306270.7,ENST00000505222.1,ENST00000503400.1,ENST00000503631.1,ENST00000369751.2 |
| exon_skip_460706 | 6 | 82906014:82906163:82909857:82909970:82910303:82910425 | 82909857:82909970 | ENSG00000005700.10 | ENST00000306270.7,ENST00000505222.1,ENST00000445419.2,ENST00000503400.1,ENST00000503631.1,ENST00000369751.2 |
| exon_skip_460709 | 6 | 82921083:82921121:82921206:82921289:82922423:82922505 | 82921206:82921289 | ENSG00000005700.10 | ENST00000306270.7,ENST00000505222.1,ENST00000503400.1,ENST00000503631.1,ENST00000510291.1,ENST00000369751.2 |
| exon_skip_460711 | 6 | 82922423:82922510:82923943:82924546:82925792:82925906 | 82923943:82924546 | ENSG00000005700.10 | ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000369751.2 |
| exon_skip_460714 | 6 | 82923943:82924546:82925792:82925967:82927676:82927854 | 82925792:82925967 | ENSG00000005700.10 | ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000369751.2 |
| exon_skip_460716 | 6 | 82941434:82941559:82943875:82943972:82949882:82950282 | 82943875:82943972 | ENSG00000005700.10 | ENST00000306270.7,ENST00000505222.1,ENST00000503400.1,ENST00000503631.1,ENST00000510291.1,ENST00000369751.2 |
| exon_skip_460720 | 6 | 82943875:82943972:82949882:82950560:82957278:82957388 | 82949882:82950560 | ENSG00000005700.10 | ENST00000503400.1,ENST00000369751.2 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for IBTK |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for IBTK |
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 IBTK |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
IBTK_COAD_exon_skip_460711_psi_boxplot.png![]() |
IBTK_GBM_exon_skip_460711_psi_boxplot.png![]() |
IBTK_LIHC_exon_skip_460711_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-4R-AA8I-01 | exon_skip_460693 | 82891596 | 82891745 | 82891683 | 82891683 | Frame_Shift_Del | T | - | p.K1213fs |
| STAD | TCGA-BR-4370-01 | exon_skip_460693 | 82891596 | 82891745 | 82891683 | 82891683 | Frame_Shift_Del | T | - | p.K1213fs |
| STAD | TCGA-CG-4442-01 | exon_skip_460693 | 82891596 | 82891745 | 82891683 | 82891683 | Frame_Shift_Del | T | - | p.K1213fs |
| STAD | TCGA-HU-8602-01 | exon_skip_460693 | 82891596 | 82891745 | 82891683 | 82891683 | Frame_Shift_Del | T | - | p.K1213fs |
| UCEC | TCGA-AP-A0LG-01 | exon_skip_460693 | 82891596 | 82891745 | 82891683 | 82891683 | Frame_Shift_Del | T | - | p.K1213fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_460698 | 82900790 | 82900933 | 82900829 | 82900829 | Frame_Shift_Del | A | - | p.L1179fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_460698 | 82900790 | 82900933 | 82900887 | 82900887 | Frame_Shift_Del | T | - | p.M1160fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_460706 | 82909858 | 82909970 | 82909945 | 82909945 | Frame_Shift_Del | T | - | p.T980fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_460711 | 82923944 | 82924546 | 82924019 | 82924019 | Frame_Shift_Del | T | - | p.N710fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_460711 | 82923944 | 82924546 | 82924019 | 82924019 | Frame_Shift_Del | T | - | p.N710fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_460711 | 82923944 | 82924546 | 82924027 | 82924027 | Frame_Shift_Del | T | - | p.K707fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_460711 | 82923944 | 82924546 | 82924027 | 82924027 | Frame_Shift_Del | T | - | p.K707fs |
| GBM | TCGA-76-4926-01 | exon_skip_460711 | 82923944 | 82924546 | 82924063 | 82924066 | Frame_Shift_Del | ACTA | - | p.V694fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_460711 | 82923944 | 82924546 | 82924086 | 82924086 | Frame_Shift_Del | T | - | p.S688fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_460711 | 82923944 | 82924546 | 82924381 | 82924381 | Frame_Shift_Del | A | - | p.F589fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_460711 | 82923944 | 82924546 | 82924381 | 82924381 | Frame_Shift_Del | A | - | p.F589fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_460711 | 82923944 | 82924546 | 82924492 | 82924492 | Frame_Shift_Del | T | - | p.K552fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_460714 | 82925793 | 82925967 | 82925797 | 82925797 | Frame_Shift_Del | T | - | p.T533fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_460720 | 82949883 | 82950560 | 82949918 | 82949918 | Frame_Shift_Del | A | - | p.Y96fs |
| STAD | TCGA-CG-5728-01 | exon_skip_460720 | 82949883 | 82950560 | 82949955 | 82949956 | Frame_Shift_Del | TT | - | p.83_84del |
| STAD | TCGA-CG-5728-01 | exon_skip_460720 | 82949883 | 82950560 | 82949955 | 82949956 | Frame_Shift_Del | TT | - | p.K83fs |
| STAD | TCGA-BR-4368-01 | exon_skip_460693 | 82891596 | 82891745 | 82891643 | 82891644 | Frame_Shift_Ins | - | T | p.K1226fs |
| STAD | TCGA-CG-5733-01 | exon_skip_460711 | 82923944 | 82924546 | 82924026 | 82924027 | Frame_Shift_Ins | - | T | p.G708fs |
| STAD | TCGA-CG-5733-01 | exon_skip_460711 | 82923944 | 82924546 | 82924027 | 82924028 | Frame_Shift_Ins | - | T | p.K707fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_460711 | 82923944 | 82924546 | 82924380 | 82924381 | Frame_Shift_Ins | - | A | p.Q590fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_460714 | 82925793 | 82925967 | 82925796 | 82925797 | Frame_Shift_Ins | - | T | p.K533fs |
| UCEC | TCGA-BG-A0LX-01 | exon_skip_460698 | 82900790 | 82900933 | 82900917 | 82900917 | Nonsense_Mutation | C | A | p.G1150* |
| LUSC | TCGA-37-4133-01 | exon_skip_460711 | 82923944 | 82924546 | 82924287 | 82924287 | Nonsense_Mutation | C | A | p.E621* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_460711 | 82923944 | 82924546 | 82924320 | 82924320 | Nonsense_Mutation | C | A | p.E610* |
| UCEC | TCGA-D1-A16X-01 | exon_skip_460711 | 82923944 | 82924546 | 82924473 | 82924473 | Nonsense_Mutation | C | A | p.E559* |
| STAD | TCGA-CG-4476-01 | exon_skip_460714 | 82925793 | 82925967 | 82925890 | 82925890 | Nonsense_Mutation | G | A | p.R502* |
| STAD | TCGA-CG-4476-01 | exon_skip_460714 | 82925793 | 82925967 | 82925890 | 82925890 | Nonsense_Mutation | G | A | p.R502X |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_460716 | 82943876 | 82943972 | 82943942 | 82943942 | Nonsense_Mutation | C | A | p.E118* |
| HNSC | TCGA-MT-A67F-01 | exon_skip_460716 | 82943876 | 82943972 | 82943951 | 82943951 | Nonsense_Mutation | G | A | p.Q115* |
| LUSC | TCGA-66-2734-01 | exon_skip_460706 | 82909858 | 82909970 | 82909856 | 82909856 | Splice_Site | A | C | p.G1009_splice |
| LUSC | TCGA-60-2722-01 | exon_skip_460706 | 82909858 | 82909970 | 82909857 | 82909857 | Splice_Site | C | A | p.G1009_splice |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
| IM95_STOMACH | 82891596 | 82891745 | 82891683 | 82891683 | Frame_Shift_Del | T | - | p.K1213fs |
| RL952_ENDOMETRIUM | 82891596 | 82891745 | 82891683 | 82891683 | Frame_Shift_Del | T | - | p.K1213fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82891596 | 82891745 | 82891683 | 82891683 | Frame_Shift_Del | T | - | p.K1213fs |
| HEC6_ENDOMETRIUM | 82923944 | 82924546 | 82924027 | 82924027 | Frame_Shift_Del | T | - | p.K707fs |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82923944 | 82924546 | 82924507 | 82924507 | Frame_Shift_Del | A | - | p.F547fs |
| AN3CA_ENDOMETRIUM | 82949883 | 82950560 | 82949918 | 82949918 | Frame_Shift_Del | A | - | p.Y96fs |
| EN_ENDOMETRIUM | 82923944 | 82924546 | 82924380 | 82924381 | Frame_Shift_Ins | - | AA | p.Q590fs |
| CCK81_LARGE_INTESTINE | 82891596 | 82891745 | 82891695 | 82891695 | Missense_Mutation | A | G | p.L1209P |
| HEC1A_ENDOMETRIUM | 82891596 | 82891745 | 82891710 | 82891710 | Missense_Mutation | A | G | p.F1204S |
| HEC108_ENDOMETRIUM | 82906015 | 82906118 | 82906030 | 82906030 | Missense_Mutation | A | T | p.H1053Q |
| HEC108_ENDOMETRIUM | 82906015 | 82906163 | 82906030 | 82906030 | Missense_Mutation | A | T | p.H1053Q |
| JHUEM7_ENDOMETRIUM | 82909858 | 82909970 | 82909872 | 82909872 | Missense_Mutation | C | T | p.S1004N |
| LS180_LARGE_INTESTINE | 82909858 | 82909970 | 82909882 | 82909882 | Missense_Mutation | T | C | p.I1001V |
| LS180_LARGE_INTESTINE | 82909858 | 82909970 | 82909893 | 82909893 | Missense_Mutation | T | C | p.N997S |
| BT16_SOFT_TISSUE | 82923944 | 82924546 | 82924025 | 82924026 | Missense_Mutation | CC | TT | p.G708K |
| CME1_SOFT_TISSUE | 82923944 | 82924546 | 82924025 | 82924025 | Missense_Mutation | C | T | p.G708E |
| LS411N_LARGE_INTESTINE | 82923944 | 82924546 | 82924044 | 82924044 | Missense_Mutation | G | A | p.P702S |
| NCIH358_LUNG | 82923944 | 82924546 | 82924114 | 82924114 | Missense_Mutation | G | T | p.N678K |
| TGW_AUTONOMIC_GANGLIA | 82923944 | 82924546 | 82924185 | 82924185 | Missense_Mutation | T | C | p.K655E |
| HS746T_STOMACH | 82923944 | 82924546 | 82924219 | 82924219 | Missense_Mutation | T | G | p.L643F |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82923944 | 82924546 | 82924260 | 82924260 | Missense_Mutation | A | G | p.Y630H |
| SNU1040_LARGE_INTESTINE | 82923944 | 82924546 | 82924271 | 82924271 | Missense_Mutation | T | G | p.D626A |
| KU1919_URINARY_TRACT | 82923944 | 82924546 | 82924430 | 82924430 | Missense_Mutation | C | G | p.R573T |
| ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82923944 | 82924546 | 82924458 | 82924458 | Missense_Mutation | G | A | p.H564Y |
| MFE319_ENDOMETRIUM | 82923944 | 82924546 | 82924524 | 82924524 | Missense_Mutation | A | G | p.S542P |
| SW1271_LUNG | 82925793 | 82925967 | 82925844 | 82925844 | Missense_Mutation | G | A | p.T517I |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82925793 | 82925967 | 82925866 | 82925866 | Missense_Mutation | G | A | p.H510Y |
| GAK_SKIN | 82925793 | 82925967 | 82925866 | 82925866 | Missense_Mutation | G | T | p.H510N |
| KM12_LARGE_INTESTINE | 82949883 | 82950560 | 82950028 | 82950028 | Missense_Mutation | A | C | p.V59G |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 82949883 | 82950560 | 82950070 | 82950070 | Missense_Mutation | G | T | p.A45E |
| BT16_SOFT_TISSUE | 82923944 | 82924546 | 82924033 | 82924033 | Nonsense_Mutation | A | T | p.C705* |
| SW948_LARGE_INTESTINE | 82923944 | 82924546 | 82924033 | 82924033 | Nonsense_Mutation | A | T | p.C705* |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82923944 | 82924546 | 82923944 | 82923944 | Splice_Site | C | A | p.R735M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IBTK |
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_460698 | 6 | 82891595:82891745:82900789:82900933:82901503:82901571 | 82900789:82900933 | ENST00000306270.7,ENST00000503400.1,ENST00000471036.1,ENST00000510291.1,ENST00000445419.2,ENST00000503631.1 | PRAD | rs9449444 | chr6:82900811 | G/A | 1.48e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IBTK |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IBTK |
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RelatedDrugs for IBTK |
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 IBTK |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |