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TBX3
Basic information
- Official gene symbol
-
T-box transcription factor 3
- Conventional gene symbol
-
TBX3-ISO, UMS, XHL
- Classification
-
Oncogene / Tumor suppressor gene
- Official gene ID
- Transcript ID
- Functional classification
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Transcriptional regulation
- Signaling pathway
-
Transcriptional regulation
- Chromosomal location
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12q24.21 (chr12:115109646..115121005, complement)
- Protein length
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743
Chromosome ideogram
Frequency of somatic alterationsTumor type
Base substitutions, insertions, and deletions
Copy number alterations
Distribution of tumor mutation burdenTMB
List of driver somatic mutations
| Genomic Coordinates (GRCh37/hg19) | Reference | Variant | Exon | Amino Acid change | Coding DNA change | COSMIC (v92) | Classification | No. of Samples |
|---|---|---|---|---|---|---|---|---|
| chr12:115120668 | C | T | 1 / 8 | p.W113* | c.338G>A | COSV57470800 | Tier2 | 1 / 128 |
| chr12:115120675 | C | A | 1 / 8 | p.E111* | c.331G>T | COSV57469926 | Tier2 | 3 / 128 |
| chr12:115118742 | TTG | T | 2 / 8 | p.K200fs | c.597_598delCA | Tier2 | 1 / 128 | |
| chr12:115117384 | GGA | G | 4 / 8 | p.L263fs | c.788_789delTC | Tier2 | 1 / 128 | |
| chr12:115115392 | C | A | 5 / 8 | p.E312* | c.934G>T | COSV57476938 | Tier2 | 1 / 128 |
| chr12:115114259 | G | A | 6 / 8 | p.Q320* | c.958C>T | Tier2 | 1 / 128 | |
| chr12:115114271 | G | A | 6 / 8 | p.Q316* | c.946C>T | Tier2 | 1 / 128 | |
| chr12:115112038 | G | A | 7 / 8 | p.Q568* | c.1702C>T | Tier2 | 1 / 128 | |
| chr12:115112287 | G | A | 7 / 8 | p.Q485* | c.1453C>T | COSV99050469 | Tier2 | 1 / 128 |
| chr12:115112436 | G | T | 7 / 8 | p.S435* | c.1304C>A | Tier2 | 1 / 128 | |
| chr12:115112552 | G | GGA | 7 / 8 | p.T397fs | c.1186_1187dupTC | Tier2 | 1 / 128 | |
| chr12:115112596 | T | A | 7 / 8 | p.K382* | c.1144A>T | Tier2 | 1 / 128 | |
| chr12:115109777 | AG | A | 8 / 8 | p.S701fs | c.2100delC | Tier2 | 1 / 128 |