6af54ff5ac809ed2c2bf92e85af7ab1eb2012e3d
DTX1.md
| ... | ... | @@ -5,6 +5,10 @@ link-citations: true |
| 5 | 5 | --- |
| 6 | 6 | # DTX1 |
| 7 | 7 | |
| 8 | +<<Warn("The variants reported in this gene in BL failed QC")>> |
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| 9 | + |
|
| 10 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 11 | + |
|
| 8 | 12 | ## Overview |
| 9 | 13 | Mutations in the DTX1 gene, which encodes the E3 ubiquitin ligase Deltex 1, have been identified in various B-cell lymphomas, including diffuse large B-cell lymphoma (DLBCL). DTX1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. These mutations are associated with the BN2 genetic subgroup of DLBCL. There are numerous mutation hotspots in this gene with some leading to a truncated protein. DTX1 functions as a negative regulator of the Notch signaling pathway. Some DTX1 mutations impair its function, thereby dysregulating Notch signaling, which is crucial for normal B-cell development and function. *Due to [minimal support](DLGAP1#representative-mutation) in the original primary data and very few mutations reported in subsequent BL studies, this gene is very unlikely to be relevant in BL.* |
| 10 | 14 |
ETS1.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # ETS1 |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene in BL failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## Overview |
| 4 | 8 | ETS1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. |
| 5 | 9 | This gene has some recurrent sites of mutations (hot spots). |
FZD3.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # FZD3 |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## History |
| 4 | 8 | ```mermaid |
| 5 | 9 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
HIST1H1C.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # HIST1H1C |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene in BL failed QC")>> |
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| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## Overview |
| 4 | 8 | This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.<sup>1,2</sup> Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins. |
| 5 | 9 |
HIST1H2AG.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # HIST1H2AG |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## History |
| 4 | 8 | ```mermaid |
| 5 | 9 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
HIST1H2AM.md
| ... | ... | @@ -2,7 +2,6 @@ |
| 2 | 2 | |
| 3 | 3 | <<Warn("The variants reported in this gene failed QC")>> |
| 4 | 4 | |
| 5 | - |
|
| 6 | 5 | **[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
| 7 | 6 | |
| 8 | 7 | ## Overview |
HIST1H2BK.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # HIST1H2BK |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
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| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## Overview |
| 4 | 8 | This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations. |
| 5 | 9 |
HIST1H3H.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # HIST1H3H |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## History |
| 4 | 8 | ```mermaid |
| 5 | 9 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
HIST1H3J.md
| ... | ... | @@ -1,6 +1,11 @@ |
| 1 | 1 | # HIST1H3J |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## History |
| 8 | + |
|
| 4 | 9 | ```mermaid |
| 5 | 10 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
| 6 | 11 | timeline |
KCNK10.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # KCNK10 |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## History |
| 4 | 8 | ```mermaid |
| 5 | 9 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
MME.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # MME |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## History |
| 4 | 8 | ```mermaid |
| 5 | 9 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
MTOR.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # MTOR |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
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| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## Overview |
| 4 | 8 | Although mutations in MTOR have been reported in DLBCL<sup>1</sup> and some BL, their role in lymphomagenesis has not been thoroughly studied. |
| 5 | 9 |
PABPC4L.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # PABPC4L |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## History |
| 4 | 8 | ```mermaid |
| 5 | 9 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
PCDHA11.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # PCDHA11 |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ```mermaid |
| 4 | 8 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
| 5 | 9 | timeline |
PDZRN3.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # PDZRN3 |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## History |
| 4 | 8 | ```mermaid |
| 5 | 9 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
PIK3R1.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # PIK3R1 |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## History |
| 4 | 8 | ```mermaid |
| 5 | 9 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
PXDNL.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # PXDNL |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## History |
| 4 | 8 | ```mermaid |
| 5 | 9 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
SNTB2.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # SNTB2 |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
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| 6 | + |
|
| 3 | 7 | ## History |
| 4 | 8 | ```mermaid |
| 5 | 9 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
WDR7.md
| ... | ... | @@ -1,5 +1,9 @@ |
| 1 | 1 | # WDR7 |
| 2 | 2 | |
| 3 | +<<Warn("The variants reported in this gene failed QC")>> |
|
| 4 | + |
|
| 5 | +**[See below ](#representative-mutations) or [the study page ](papers/paneaWholeGenomeLandscape2019.md#tier-2) for more information** |
|
| 6 | + |
|
| 3 | 7 | ## History |
| 4 | 8 | ```mermaid |
| 5 | 9 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |