How to Curate a Gene Page: Difference between revisions
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=== 6. COMMON ALTERATION TYPES Section === | === 6. COMMON ALTERATION TYPES Section === | ||
This section should be completed in concert with the GENE OVERVIEW Section and CANCER CATEGORY/TYPE Section. It is meant to be an "At a Glance" section for the type of alteration that ARE MOST COMMON ACROSS ALL CANCERS. The types of alterations are: | |||
Copy Number Loss | |||
Copy Number Gain | |||
LOH (Loss of Heterozygosity) | |||
Loss-of-Function Mutation | |||
Gain-of-Function Mutation | |||
Translocation/Fusion | |||
In some cases (eg, like TP53) this may not help the user much, as TP53 mutations encompasses all types. | |||
{| class="wikitable sortable" | |||
|- | |||
! Copy Number Loss !! Copy Number Gain !! LOH !! Loss-of-Function Mutation !! Gain-of-Function Mutation !! Translocation/Fusion | |||
|- | |||
| EXAMPLE: X ||EXAMPLE: X || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X | |||
|} | |||
However, in many cases, these types of tables are useful to a user. In the example of RUNX1, by far the most frequent mutations are fusion genes which are loss of function mutations. See the example below. | |||
'''Acute Myeloid Leukemia (AML);''' t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion | |||
'''B-cell Acute Lymphocytic Leukemia (B-ALL);''' t(12;21)(p13;q22) resulting in ETV6-RUNX1 fusion | |||
{| class="wikitable sortable" | |||
|- | |||
! Copy Number Loss !! Copy Number Gain !! LOH !! Loss-of-Function Mutation !! Gain-of-Function Mutation !! Translocation/Fusion | |||
|- | |||
| || || || X || || X | |||
|} | |||
=== 7. INTERNAL PAGES Section === | === 7. INTERNAL PAGES Section === | ||