43f4f3729b7adccdbe139bef2d99a19ac01dc31c
AMOTL1.md
| ... | ... | @@ -0,0 +1,39 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 6 | + |
|
| 7 | +# AMOTL1 |
|
| 8 | + |
|
| 9 | +## History |
|
| 10 | + |
|
| 11 | +```mermaid |
|
| 12 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 13 | +timeline |
|
| 14 | + title Publication timing |
|
| 15 | + 2013-12-13 : Parry : MZL |
|
| 16 | +``` |
|
| 17 | + |
|
| 18 | + |
|
| 19 | +## Relevance tier by entity |
|
| 20 | + |
|
| 21 | +|Entity|Tier|Description| |
|
| 22 | +|:------:|:----:|--------------------------------------| |
|
| 23 | +||2|relevance in MZL not firmly established[@parryWholeExomeSequencing2013]| |
|
| 24 | + |
|
| 25 | + |
|
| 26 | +## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
|
| 27 | + |
|
| 28 | +|Entity|source |frequency (%)| |
|
| 29 | +|:------:|:----:|:----:| |
|
| 30 | +|BL|GAMBL Exome |2.874 | |
|
| 31 | +|BL|GAMBL Genome |1.158 | |
|
| 32 | +|DLBCL|GAMBL Exome |1.725 | |
|
| 33 | +|DLBCL|GAMBL Genome |0.94 | |
|
| 34 | +|FL|GAMBL Exome |0.287 | |
|
| 35 | + |
|
| 36 | + |
|
| 37 | +## References |
|
| 38 | + |
|
| 39 | + |
ANK2.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ANK2 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|---------------------------------------| |
| 15 | -| |2 |relevance in MCL not firmly established| |
|
| 20 | +| |2 |relevance in MCL not firmly established[@zhangGenomicLandscapeMantle2014]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -45,4 +50,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 45 | 50 | <!-- MCL: zhangGenomicLandscapeMantle2014 --> |
| 46 | 51 | |
| 47 | 52 | ## References |
| 48 | -1. Zhang J, Jima D, Moffitt AB, Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood. 2014 May 8;123(19):2988–2996. |
ANKRD12.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ANKRD12 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -14,7 +19,7 @@ timeline |
| 14 | 19 | |
| 15 | 20 | |Entity|Tier|Description | |
| 16 | 21 | |:------:|:----:|-----------------------------------------| |
| 17 | -| |2 |relevance in DLBCL not firmly established| |
|
| 22 | +| |2 |relevance in DLBCL not firmly established[@hubschmannMutationalMechanismsShaping2021b]| |
|
| 18 | 23 | |
| 19 | 24 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 20 | 25 | |
| ... | ... | @@ -45,7 +50,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 45 | 50 |  |
| 46 | 51 | <!-- ORIGIN: hubschmannMutationalMechanismsShaping2021b --> |
| 47 | 52 | |
| 48 | -## All Mutations |
|
| 53 | +## All Mutations[@hubschmannMutationalMechanismsShaping2021b] |
|
| 49 | 54 | |
| 50 | 55 | [SP193744](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP193744.html) |
| 51 | 56 | [SP116697](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP116697.html) |
| ... | ... | @@ -56,5 +61,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 56 | 61 | [SP193375](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP193375.html) |
| 57 | 62 | |
| 58 | 63 | ## References |
| 59 | -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 |
|
| 64 | + |
|
| 60 | 65 | <!-- DLBCL: hubschmannMutationalMechanismsShaping2021b --> |
ANKRD17.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ANKRD17 |
| 2 | 7 | |
| 3 | 8 | <<Warn("The variants reported in this gene in DLBCL failed QC")>> |
| ... | ... | @@ -16,7 +21,7 @@ timeline |
| 16 | 21 | |
| 17 | 22 | |Entity|Tier|Description | |
| 18 | 23 | |:------:|:----:|-----------------------------------------| |
| 19 | -| |2 |relevance in DLBCL not firmly established| |
|
| 24 | +| |2 |relevance in DLBCL not firmly established[@reddyGeneticFunctionalDrivers2017]| |
|
| 20 | 25 | |
| 21 | 26 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 22 | 27 | |
| ... | ... | @@ -47,7 +52,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 47 | 52 | ## ANKRD17 Expression |
| 48 | 53 |  |
| 49 | 54 | |
| 50 | -## Representative Mutations |
|
| 55 | +## Representative Mutations[@reddyGeneticFunctionalDrivers2017] |
|
| 51 | 56 | |
| 52 | 57 |  |
| 53 | 58 | ★ ☆ ☆ ☆ ☆ |
| ... | ... | @@ -55,7 +60,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 55 | 60 |  |
| 56 | 61 | ★ ☆ ☆ ☆ ☆ |
| 57 | 62 | |
| 58 | -## All Mutations |
|
| 63 | +## All Mutations[@reddyGeneticFunctionalDrivers2017] |
|
| 59 | 64 | |
| 60 | 65 | [Reddy_1016T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_1016T.html) |
| 61 | 66 | [Reddy_2045T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2045T.html) |
| ... | ... | @@ -112,7 +117,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 112 | 117 | [Reddy_705T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_705T.html) |
| 113 | 118 | |
| 114 | 119 | ## References |
| 115 | -1. *Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.* |
|
| 116 | 120 | |
| 117 | 121 | |
| 118 | 122 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
ARHGEF1.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ARHGEF1 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|--------------------------------------| |
| 15 | -| |2 |relevance in BL not firmly established| |
|
| 20 | +| |2 |relevance in BL not firmly established[@muppidiLossSignalingGa132014b]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -47,4 +52,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 47 | 52 | <!-- BL: muppidiLossSignalingGa132014b --> |
| 48 | 53 | |
| 49 | 54 | ## References |
| 50 | -1. Muppidi J, Schmitz R, Green JA, Green JA, Xiao W, Larsen AB, Braun S, An J, Xu Y, Rosenwald A, Ott G, Gascoyne R, Rimsza L, Campo E, Jaffe E, Delabie J, Smeland E, Braziel R, Tubbs R, Cook J, Weisenburger D, Chan W, Vaidehi N, Staudt L, Cyster J. Loss of signaling via Gα13 in germinal center B cell-derived lymphoma. Nature. 2014;516:254–258. |
ARIH2.md
| ... | ... | @@ -0,0 +1,39 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 6 | + |
|
| 7 | +# ARIH2 |
|
| 8 | + |
|
| 9 | +## History |
|
| 10 | + |
|
| 11 | +```mermaid |
|
| 12 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 13 | +timeline |
|
| 14 | + title Publication timing |
|
| 15 | + 2015-02-12 : Reichel : PMBL |
|
| 16 | +``` |
|
| 17 | + |
|
| 18 | + |
|
| 19 | +## Relevance tier by entity |
|
| 20 | + |
|
| 21 | +|Entity|Tier|Description| |
|
| 22 | +|:------:|:----:|--------------------------------------| |
|
| 23 | +||2|relevance in PMBL/cHL/GZL not firmly established[@reichelFlowSortingExome2015a]| |
|
| 24 | + |
|
| 25 | + |
|
| 26 | +## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
|
| 27 | + |
|
| 28 | +|Entity|source |frequency (%)| |
|
| 29 | +|:------:|:----:|:----:| |
|
| 30 | +|BL|GAMBL Exome |1.149 | |
|
| 31 | +|BL|GAMBL Genome |0.386 | |
|
| 32 | +|DLBCL|GAMBL Exome |0.755 | |
|
| 33 | +|DLBCL|GAMBL Genome |0.564 | |
|
| 34 | +|MCL|GAMBL Genome |0.585 | |
|
| 35 | + |
|
| 36 | + |
|
| 37 | +## References |
|
| 38 | + |
|
| 39 | + |
ATM.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ATM |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -17,9 +22,9 @@ Mutations in this gene were first described in MZL by Braggio et al,<sup>1</sup> |
| 17 | 22 | |
| 18 | 23 | |Entity|Tier|Description | |
| 19 | 24 | |:------:|:----:|--------------------------| |
| 20 | -||1|high-confidence MZL gene| |
|
| 21 | -| |1 |high-confidence DLBCL gene| |
|
| 22 | -| |1 |high-confidence MCL gene | |
|
| 25 | +||1|high-confidence MZL gene[@braggioGenomicAnalysisMarginal2012]| |
|
| 26 | +| |1 |high-confidence DLBCL gene[@reddyGeneticFunctionalDrivers2017]| |
|
| 27 | +| |1 |high-confidence MCL gene [@beaLandscapeSomaticMutations2013]| |
|
| 23 | 28 | |
| 24 | 29 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 25 | 30 | |
| ... | ... | @@ -52,9 +57,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 52 | 57 |  |
| 53 | 58 | |
| 54 | 59 | ## References |
| 55 | -1. *Braggio E, Dogan A, Keats JJ, Chng WJ, Huang G, Matthews JM, Maurer MJ, Law ME, Bosler DS, Barrett M, Lossos IS, Witzig TE, Fonseca R. Genomic analysis of marginal zone and lymphoplasmacytic lymphomas identified common and disease-specific abnormalities. Mod Pathol. 2012 May;25(5):651–660. PMCID: PMC3341516* |
|
| 56 | -2. *Beà S, Valdés-Mas R, Navarro A, Salaverria I, Martín-Garcia D, Jares P, Giné E, Pinyol M, Royo C, Nadeu F, Conde L, Juan M, Clot G, Vizán P, Croce LD, Puente DA, López-Guerra M, Moros A, Roue G, Aymerich M, Villamor N, Colomo L, Martínez A, Valera A, Martín-Subero JI, Amador V, Hernández L, Rozman M, Enjuanes A, Forcada P, Muntañola A, Hartmann EM, Calasanz MJ, Rosenwald A, Ott G, Hernández-Rivas JM, Klapper W, Siebert R, Wiestner A, Wilson WH, Colomer D, López-Guillermo A, López-Otín C, Puente XS, Campo E. Landscape of somatic mutations and clonal evolution in mantle cell lymphoma. PNAS. 2013 Nov 5;110(45):18250–18255. PMID: 24145436* |
|
| 57 | -3. *Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.* |
|
| 58 | 60 | |
| 59 | 61 | |
| 60 | 62 | <!-- ORIGIN: braggioGenomicAnalysisMarginal2012 --> |
ATP11C.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ATP11C |
| 2 | 7 | |
| 3 | 8 | ```mermaid |
| ... | ... | @@ -11,7 +16,7 @@ timeline |
| 11 | 16 | |
| 12 | 17 | |Entity|Tier|Description | |
| 13 | 18 | |:------:|:----:|---------------------------------------| |
| 14 | -| |2 |relevance in MCL not firmly established| |
|
| 19 | +| |2 |relevance in MCL not firmly established[@zhangGenomicLandscapeMantle2014]| |
|
| 15 | 20 | |
| 16 | 21 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 17 | 22 | |
| ... | ... | @@ -44,4 +49,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 44 | 49 | <!-- MCL: zhangGenomicLandscapeMantle2014 --> |
| 45 | 50 | |
| 46 | 51 | ## References |
| 47 | -1. Zhang J, Jima D, Moffitt AB, Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood. 2014 May 8;123(19):2988–2996. |
ATP2C2.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ATP2C2 |
| 2 | 7 | |
| 3 | 8 | |
| ... | ... | @@ -17,7 +22,7 @@ timeline |
| 17 | 22 | |
| 18 | 23 | |Entity|Tier|Description | |
| 19 | 24 | |:------:|:----:|--------------------------------------| |
| 20 | -| |2 |relevance in BL not firmly established| |
|
| 25 | +| |2 |relevance in BL not firmly established[@loveGeneticLandscapeMutations2012]| |
|
| 21 | 26 | |
| 22 | 27 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 23 | 28 | |
| ... | ... | @@ -65,4 +70,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 65 | 70 | [677](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/677_reports.html) |
| 66 | 71 | |
| 67 | 72 | ## References |
| 68 | -1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561 |
ATP6AP1.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ATP6AP1 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|-----------------------| |
| 15 | -| |1 |high-confidence FL gene| |
|
| 20 | +| |1 |high-confidence FL gene[@okosunRecurrentMTORC1activatingRRAGC2016a]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -44,4 +49,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 44 | 49 | <!-- FL: okosunRecurrentMTORC1activatingRRAGC2016a --> |
| 45 | 50 | |
| 46 | 51 | ## References |
| 47 | -1. Okosun J, Wolfson RL, Wang J, Araf S, Wilkins L, Castellano BM, Escudero-Ibarz L, Al Seraihi AF, Richter J, Bernhart SH, Efeyan A, Iqbal S, Matthews J, Clear A, Guerra-Assunção JA, Bödör C, Quentmeier H, Mansbridge C, Johnson P, Davies A, Strefford JC, Packham G, Barrans S, Jack A, Du MQ, Calaminici M, Lister TA, Auer R, Montoto S, Gribben JG, Siebert R, Chelala C, Zoncu R, Sabatini DM, Fitzgibbon J. Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. Nat Genet. 2016 Feb;48(2):183–188. PMCID: PMC4731318 |
ATP6V1A.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ATP6V1A |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -14,7 +19,7 @@ timeline |
| 14 | 19 | |
| 15 | 20 | |Entity|Tier|Description | |
| 16 | 21 | |:------:|:----:|--------------------------------------| |
| 17 | -| |2 |relevance in FL not firmly established| |
|
| 22 | +| |2 |relevance in FL not firmly established[@hubschmannMutationalMechanismsShaping2021b]| |
|
| 18 | 23 | |
| 19 | 24 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 20 | 25 | |
| ... | ... | @@ -56,7 +61,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 56 | 61 | [SP194216](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP194216.html) |
| 57 | 62 | |
| 58 | 63 | ## References |
| 59 | -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 |
|
| 60 | 64 | |
| 61 | 65 | <!-- ORIGIN: hubschmannMutationalMechanismsShaping2021b --> |
| 62 | 66 | <!-- FL: hubschmannMutationalMechanismsShaping2021b --> |
ATP6V1B2.md
| ... | ... | @@ -1,3 +1,8 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # ATP6V1B2 |
| 2 | 7 | |
| 3 | 8 | ## History |
| ... | ... | @@ -12,7 +17,7 @@ timeline |
| 12 | 17 | |
| 13 | 18 | |Entity|Tier|Description | |
| 14 | 19 | |:------:|:----:|-----------------------| |
| 15 | -| |1 |high-confidence FL gene| |
|
| 20 | +| |1 |high-confidence FL gene[@okosunRecurrentMTORC1activatingRRAGC2016a]| |
|
| 16 | 21 | |
| 17 | 22 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| 18 | 23 | |
| ... | ... | @@ -51,4 +56,3 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A |
| 51 | 56 | <!-- FL: okosunRecurrentMTORC1activatingRRAGC2016a --> |
| 52 | 57 | |
| 53 | 58 | ## References |
| 54 | -1. Okosun J, Wolfson RL, Wang J, Araf S, Wilkins L, Castellano BM, Escudero-Ibarz L, Al Seraihi AF, Richter J, Bernhart SH, Efeyan A, Iqbal S, Matthews J, Clear A, Guerra-Assunção JA, Bödör C, Quentmeier H, Mansbridge C, Johnson P, Davies A, Strefford JC, Packham G, Barrans S, Jack A, Du MQ, Calaminici M, Lister TA, Auer R, Montoto S, Gribben JG, Siebert R, Chelala C, Zoncu R, Sabatini DM, Fitzgibbon J. Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. Nat Genet. 2016 Feb;48(2):183–188. PMCID: PMC4731318 |
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|
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|
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| 367 | + </script>
|
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| 368 | +<h1 id="atr">ATR</h1> |
|
| 369 | +<h2 id="history">History</h2> |
|
| 370 | +<p>Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.<sup>1</sup> Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.</p> |
|
| 371 | +<pre><code class="language-mermaid"><div class="mermaid">%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 372 | +timeline |
|
| 373 | + title Publication timing |
|
| 374 | + 2017-10-10 : Reddy : DLBCL |
|
| 375 | +</div></code></pre> |
|
| 376 | +<h2 id="relevance-tier-by-entity">Relevance tier by entity</h2> |
|
| 377 | +<table> |
|
| 378 | +<thead> |
|
| 379 | +<tr> |
|
| 380 | +<th style="text-align:center">Entity</th> |
|
| 381 | +<th style="text-align:center">Tier</th> |
|
| 382 | +<th>Description</th> |
|
| 383 | +</tr> |
|
| 384 | +</thead> |
|
| 385 | +<tbody> |
|
| 386 | +<tr> |
|
| 387 | +<td style="text-align:center"><img src="file:///Users/rmorin/git/LLMPP.wiki/images/icons/DLBCL_tier2.png" alt="DLBCL"></td> |
|
| 388 | +<td style="text-align:center">2</td> |
|
| 389 | +<td>relevance in DLBCL not firmly established[@reddyGeneticFunctionalDrivers2017]</td> |
|
| 390 | +</tr> |
|
| 391 | +</tbody> |
|
| 392 | +</table> |
|
| 393 | +<h2 id="mutation-incidence-in-large-patient-cohorts-gambl-reanalysis">Mutation incidence in large patient cohorts (GAMBL reanalysis)</h2> |
|
| 394 | +<table> |
|
| 395 | +<thead> |
|
| 396 | +<tr> |
|
| 397 | +<th style="text-align:center">Entity</th> |
|
| 398 | +<th style="text-align:center">source</th> |
|
| 399 | +<th style="text-align:center">frequency (%)</th> |
|
| 400 | +</tr> |
|
| 401 | +</thead> |
|
| 402 | +<tbody> |
|
| 403 | +<tr> |
|
| 404 | +<td style="text-align:center">DLBCL</td> |
|
| 405 | +<td style="text-align:center">GAMBL genomes</td> |
|
| 406 | +<td style="text-align:center">2.68</td> |
|
| 407 | +</tr> |
|
| 408 | +<tr> |
|
| 409 | +<td style="text-align:center">DLBCL</td> |
|
| 410 | +<td style="text-align:center">Schmitz cohort</td> |
|
| 411 | +<td style="text-align:center">4.89</td> |
|
| 412 | +</tr> |
|
| 413 | +<tr> |
|
| 414 | +<td style="text-align:center">DLBCL</td> |
|
| 415 | +<td style="text-align:center">Reddy cohort</td> |
|
| 416 | +<td style="text-align:center">2.80</td> |
|
| 417 | +</tr> |
|
| 418 | +<tr> |
|
| 419 | +<td style="text-align:center">DLBCL</td> |
|
| 420 | +<td style="text-align:center">Chapuy cohort</td> |
|
| 421 | +<td style="text-align:center">3.85</td> |
|
| 422 | +</tr> |
|
| 423 | +</tbody> |
|
| 424 | +</table> |
|
| 425 | +<h2 id="mutation-pattern-and-selective-pressure-estimates">Mutation pattern and selective pressure estimates</h2> |
|
| 426 | +<table> |
|
| 427 | +<thead> |
|
| 428 | +<tr> |
|
| 429 | +<th style="text-align:center">Entity</th> |
|
| 430 | +<th style="text-align:center">aSHM</th> |
|
| 431 | +<th style="text-align:center">Significant selection</th> |
|
| 432 | +<th style="text-align:center">dN/dS (missense)</th> |
|
| 433 | +<th style="text-align:center">dN/dS (nonsense)</th> |
|
| 434 | +</tr> |
|
| 435 | +</thead> |
|
| 436 | +<tbody> |
|
| 437 | +<tr> |
|
| 438 | +<td style="text-align:center">BL</td> |
|
| 439 | +<td style="text-align:center">No</td> |
|
| 440 | +<td style="text-align:center">No</td> |
|
| 441 | +<td style="text-align:center">0.459</td> |
|
| 442 | +<td style="text-align:center">0.000</td> |
|
| 443 | +</tr> |
|
| 444 | +<tr> |
|
| 445 | +<td style="text-align:center">DLBCL</td> |
|
| 446 | +<td style="text-align:center">No</td> |
|
| 447 | +<td style="text-align:center">No</td> |
|
| 448 | +<td style="text-align:center">1.146</td> |
|
| 449 | +<td style="text-align:center">3.261</td> |
|
| 450 | +</tr> |
|
| 451 | +<tr> |
|
| 452 | +<td style="text-align:center">FL</td> |
|
| 453 | +<td style="text-align:center">No</td> |
|
| 454 | +<td style="text-align:center">No</td> |
|
| 455 | +<td style="text-align:center">0.000</td> |
|
| 456 | +<td style="text-align:center">0.000</td> |
|
| 457 | +</tr> |
|
| 458 | +</tbody> |
|
| 459 | +</table> |
|
| 460 | +<p>View coding variants in ProteinPaint <a href="https://morinlab.github.io/LLMPP/GAMBL/ATR_protein.html">hg19</a> or <a href="https://morinlab.github.io/LLMPP/GAMBL/ATR_protein_hg38.html">hg38</a></p> |
|
| 461 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/images/proteinpaint/ATR_NM_001184.svg" alt=""></p> |
|
| 462 | +<p>View all variants in GenomePaint <a href="https://morinlab.github.io/LLMPP/GAMBL/ATR.html">hg19</a> or <a href="https://morinlab.github.io/LLMPP/GAMBL/ATR_hg38.html">hg38</a></p> |
|
| 463 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/images/proteinpaint/ATR.svg" alt=""></p> |
|
| 464 | +<h2 id="atr-expression">ATR Expression</h2> |
|
| 465 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/images/gene_expression/ATR_by_pathology.svg" alt=""></p> |
|
| 466 | +<h2 id="representative-mutations">Representative Mutations</h2> |
|
| 467 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/primary/Reddy_ATR_1.svg" alt=""> |
|
| 468 | +<strong>Rating</strong> |
|
| 469 | +★ ★ ★ ★ ★</p> |
|
| 470 | +<p><img src="file:///Users/rmorin/git/LLMPP.wiki/primary/Reddy_ATR_2.svg" alt=""> |
|
| 471 | +<strong>Rating</strong> |
|
| 472 | +★ ★ ☆ ☆ ☆</p> |
|
| 473 | +<h2 id="all-mutations">All Mutations</h2> |
|
| 474 | +<p><a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2121T.html">Reddy_2121T</a> |
|
| 475 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2150T.html">Reddy_2150T</a> |
|
| 476 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2163T.html">Reddy_2163T</a> |
|
| 477 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2192T.html">Reddy_2192T</a> |
|
| 478 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2195T.html">Reddy_2195T</a> |
|
| 479 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2206T.html">Reddy_2206T</a> |
|
| 480 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2236T.html">Reddy_2236T</a> |
|
| 481 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2475T.html">Reddy_2475T</a> |
|
| 482 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2476T.html">Reddy_2476T</a> |
|
| 483 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2585T.html">Reddy_2585T</a> |
|
| 484 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2594T.html">Reddy_2594T</a> |
|
| 485 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2758T.html">Reddy_2758T</a> |
|
| 486 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2768T.html">Reddy_2768T</a> |
|
| 487 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2775T.html">Reddy_2775T</a> |
|
| 488 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2779T.html">Reddy_2779T</a> |
|
| 489 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2805T.html">Reddy_2805T</a> |
|
| 490 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2828T.html">Reddy_2828T</a> |
|
| 491 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2838T.html">Reddy_2838T</a> |
|
| 492 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2898T.html">Reddy_2898T</a> |
|
| 493 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2933T.html">Reddy_2933T</a> |
|
| 494 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2947T.html">Reddy_2947T</a> |
|
| 495 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3384T.html">Reddy_3384T</a> |
|
| 496 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3385T.html">Reddy_3385T</a> |
|
| 497 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3405T.html">Reddy_3405T</a> |
|
| 498 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3489T.html">Reddy_3489T</a> |
|
| 499 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3502T.html">Reddy_3502T</a> |
|
| 500 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3520T.html">Reddy_3520T</a> |
|
| 501 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3548T.html">Reddy_3548T</a> |
|
| 502 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3549T.html">Reddy_3549T</a> |
|
| 503 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3557T.html">Reddy_3557T</a> |
|
| 504 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3561T.html">Reddy_3561T</a> |
|
| 505 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3562T.html">Reddy_3562T</a> |
|
| 506 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3594T.html">Reddy_3594T</a> |
|
| 507 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3622T.html">Reddy_3622T</a> |
|
| 508 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3653T.html">Reddy_3653T</a> |
|
| 509 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3662T.html">Reddy_3662T</a> |
|
| 510 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3779T.html">Reddy_3779T</a> |
|
| 511 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3810T.html">Reddy_3810T</a> |
|
| 512 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3812T.html">Reddy_3812T</a> |
|
| 513 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3820T.html">Reddy_3820T</a> |
|
| 514 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3822T.html">Reddy_3822T</a> |
|
| 515 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3843T.html">Reddy_3843T</a> |
|
| 516 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3856T.html">Reddy_3856T</a> |
|
| 517 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3879T.html">Reddy_3879T</a> |
|
| 518 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3992T.html">Reddy_3992T</a> |
|
| 519 | +<a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_705T.html">Reddy_705T</a></p> |
|
| 520 | +<h2 id="references">References</h2> |
|
| 521 | +<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
|
| 522 | +<!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
|
| 523 | +
|
|
| 524 | +</body>
|
|
| 525 | +</html>
|