ca39bc1b0b3a439578ba17295b3d3678775dc887
CCDC42BPB.md
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| 1 | -# CCDC42BPB |
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| 2 | - |
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| 3 | -## History |
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| 4 | -Mutations in this gene were first described in FL in 2021 by Hübschmann et al.<sup>1</sup> |
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| 5 | - |
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| 6 | -```mermaid |
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| 7 | -%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
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| 8 | -timeline |
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| 9 | - title Publication timing |
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| 10 | - 2021-05-05 : Hübschmann : FL |
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| 11 | -``` |
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| 12 | - |
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| 13 | -## Relevance tier by entity |
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| 14 | - |
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| 15 | -|Entity|Tier|Description | |
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| 16 | -|:------:|:----:|--------------------------------------| |
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| 17 | -| |2 |relevance in FL not firmly established| |
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| 18 | - |
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| 19 | -## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
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| 20 | - |
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| 21 | -|Entity|source |frequency (%)| |
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| 22 | -|:------:|:-------------:|:-------------:| |
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| 23 | -|FL |GAMBL genomes|NA | |
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| 24 | - |
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| 25 | -## Mutation pattern and selective pressure estimates |
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| 26 | - |
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| 27 | -| |
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| 28 | - |
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| 29 | - |
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| 30 | - |
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| 31 | - |
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| 32 | -View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCDC42BPB_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCDC42BPB_protein_hg38.html) |
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| 33 | - |
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| 34 | -View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCDC42BPB.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCDC42BPB_hg38.html) |
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| 35 | - |
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| 36 | - |
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| 37 | - |
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| 38 | -## CCDC42BPB Expression |
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| 39 | - |
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| 40 | - |
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| 41 | -## References |
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| 42 | -1. Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491 |
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| 43 | - |
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| 44 | - |
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| 45 | -<!-- ORIGIN: hubschmannMutationalMechanismsShaping2021b --> |
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| 46 | -<!-- FL: hubschmannMutationalMechanismsShaping2021b --> |
CDC42BPB.md
| ... | ... | @@ -0,0 +1,46 @@ |
| 1 | +# CCDC42BPB |
|
| 2 | + |
|
| 3 | +## History |
|
| 4 | +Mutations in this gene were first described in FL in 2021 by Hübschmann et al.<sup>1</sup> |
|
| 5 | + |
|
| 6 | +```mermaid |
|
| 7 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 8 | +timeline |
|
| 9 | + title Publication timing |
|
| 10 | + 2021-05-05 : Hübschmann : FL |
|
| 11 | +``` |
|
| 12 | + |
|
| 13 | +## Relevance tier by entity |
|
| 14 | + |
|
| 15 | +|Entity|Tier|Description | |
|
| 16 | +|:------:|:----:|--------------------------------------| |
|
| 17 | +| |2 |relevance in FL not firmly established| |
|
| 18 | + |
|
| 19 | +## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
|
| 20 | + |
|
| 21 | +|Entity|source |frequency (%)| |
|
| 22 | +|:------:|:-------------:|:-------------:| |
|
| 23 | +|FL |GAMBL genomes|NA | |
|
| 24 | + |
|
| 25 | +## Mutation pattern and selective pressure estimates |
|
| 26 | + |
|
| 27 | +| |
|
| 28 | + |
|
| 29 | + |
|
| 30 | + |
|
| 31 | + |
|
| 32 | +View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCDC42BPB_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCDC42BPB_protein_hg38.html) |
|
| 33 | + |
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| 34 | +View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/CCDC42BPB.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/CCDC42BPB_hg38.html) |
|
| 35 | + |
|
| 36 | + |
|
| 37 | + |
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| 38 | +## CCDC42BPB Expression |
|
| 39 | + |
|
| 40 | + |
|
| 41 | +## References |
|
| 42 | +1. Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491 |
|
| 43 | + |
|
| 44 | + |
|
| 45 | +<!-- ORIGIN: hubschmannMutationalMechanismsShaping2021b --> |
|
| 46 | +<!-- FL: hubschmannMutationalMechanismsShaping2021b --> |
FL_genes.md
| ... | ... | @@ -92,7 +92,7 @@ link-citations: true |
| 92 | 92 | |[ACTG1](ACTG1)|2, aSHM|[@hubschmannMutationalMechanismsShaping2021b]|[@spinaGeneticsNodalMarginal2016b; @deschGenotypingCirculatingTumor2020]| |
| 93 | 93 | |[ATP6V1A](ATP6V1A)|2|[@hubschmannMutationalMechanismsShaping2021b]|| |
| 94 | 94 | |[BCL10](BCL10)|2|[@russler-germainMutationsAssociatedProgression2023b]|[@morinFrequentMutationHistonemodifying2011; @spinaGeneticsNodalMarginal2016b]| |
| 95 | -|[CCDC42BPB](CCDC42BPB)|2|[@hubschmannMutationalMechanismsShaping2021b]|| |
|
| 95 | +|[CDC42BPB](CDC42BPB)|2|[@hubschmannMutationalMechanismsShaping2021b]|| |
|
| 96 | 96 | |[CD70](CD70)|2|[@russler-germainMutationsAssociatedProgression2023b]|[@morinFrequentMutationHistonemodifying2011]| |
| 97 | 97 | |[CD79B](CD79B)|2||[@morinFrequentMutationHistonemodifying2011; @paneaWholeGenomeLandscape2019]| |
| 98 | 98 | |[CILP](CILP)|2|[@russler-germainMutationsAssociatedProgression2023b]|| |