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CD83
CD83 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 1-a | aSHM target and high-confidence DLBCL gene |
| FL | 1-a | aSHM target and high-confidence FL gene |
| BL | 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.40 |
| DLBCL | Schmitz cohort | 5.74 |
| DLBCL | Reddy cohort | 5.81 |
| DLBCL | Chapuy cohort | 7.26 |
| FL | GAMBL genomes | 1.85 |
| BL | GAMBL genomes+capture | 1.15 |
| BL | Thomas cohort | 1.70 |
| BL | Panea cohort | NA |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 4.396 | 0.000 |
| DLBCL | Yes | No | 4.794 | 14.227 |
| FL | Yes | No | 0.000 | 25.732 |
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr6 | 14118026 | 14120025 | TSS | active_promoter-strong_enhancer |
Note
First described in BL in 2019 by Panea RI. First described in DLBCL in 2013.1 First described in FL in 2023.2
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
- Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256-65. doi: 10.1182/blood-2013-02-483727. Epub 2013 May 22. PMID: 23699601; PMCID: PMC3744992.
- Russler-Germain DA, Krysiak K, Ramirez C, Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, Cashen AF, Mehta-Shah N, Kahl BS, Bartlett NL, Alderuccio JP, Lossos IS, Ondrejka SL, Hsi ED, Martin P, Leonard JP, Griffith M, Griffith OL, Fehniger TA. Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303. Blood Adv. 2023 Sep 26;7(18):5524-5539. doi: 10.1182/bloodadvances.2023010779. PMID: 37493986; PMCID: PMC10514406.
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