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Update CTNNB1 protein changes in crc_msk_2017 #1844

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@rmadupuri rmadupuri commented Jun 21, 2023

What?

Fixes #1836

  1. Recurated the MAF from Table S3. The mutations file in datahub master lists ~14k somatic variants where as the paper shows ~18k variants.
  2. Reannotated the MAF with GN. That fixed the protein change of the CTNNB1 intragenic in-frame deletions as below
Hugo_Symbol Start_Position End_Position HGVSp_Short_Old HGVSp_Short_reVUE
CTNNB1 41265579 41266277 p.X5_splice p.A5_D81del
CTNNB1 41265709 41266219 p.X5_splice p.A5_Q72del
CTNNB1 41265722 41266253 p.X5_splice p.A5_D81del
CTNNB1 41265897 41266218 p.X5_splice p.A5_Q72del
CTNNB1 41265908 41266236 p.X5_splice p.A5_Q79del
CTNNB1 41265975 41266211 p.X5_splice p.A5_G69del
CTNNB1 41266002 41266029 p.X5_splice p.A5_E9del
CTNNB1 41266012 41266312 p.X5_splice p.A5_D81del
CTNNB1 41266013 41266355 p.X5_splice p.A5_D81del
CTNNB1 41266016 41266403 p.X6_splice p.A5_D81del
CTNNB1 41266028 41266420 p.X10_splice p.E9_D81del
CTNNB1 41266029 41266287 p.X10_splice p.E9_D81del
CTNNB1 41266038 41266264 p.X13_splice p.M12_D81del
CTNNB1 41266086 41266304 p.X29_splice p.Q28_D81del
CTNNB1 41266090 41266253 p.X30_splice p.S29_D81del
CTNNB1 41265562 41266260 VARIANT DIDN'T EXIST p.A2_D81del
CTNNB1 41265568 41266266 VARIANT DIDN'T EXIST p.Q4_D81del
CTNNB1 41265571 41266206 VARIANT DIDN'T EXIST p.A5_Q68del
CTNNB1 41265648 41266493 VARIANT DIDN'T EXIST p.A5_A97del
CTNNB1 41265674 41266212 VARIANT DIDN'T EXIST p.A5_F70del
CTNNB1 41265990 41266204 VARIANT DIDN'T EXIST p.A5_Q68del

And below are the 29 intragenic in-frame deletions that spanned exon 3 as mentioned in the paper:

AA change Count
p.A2_D81del 1
p.A5_A97del 1
p.A5_D81del 9
p.A5_E9del 1
p.A5_F70del 1
p.A5_G69del 1
p.A5_Q68del 2
p.A5_Q72del 3
p.A5_Q79del 1
p.E9_D81del 2
p.M12_D81del 1
p.Q4_D81del 1
p.Q28_D81del 1
p.S29_D81del 1
p.S23_S33del 1
p.V22_S33del 1
p.W25_D32del 1

sbabyanusha and others added 9 commits June 21, 2023 18:54
Co-Authored-By: Pooja Chandra <40443942+poojachandra@users.noreply.github.com>
* New public study aml_ohsu_2022

* annotate MAF, fix case list counts, update meta

---------

Co-authored-by: Ramya Madupuri <ramyamadupuri99@gmail.com>
Co-authored-by: Ramya Madupuri <34350829+rmadupuri@users.noreply.github.com>
* initial commit

* remove genesets

* add citation

* fix attribute type
@rmadupuri rmadupuri force-pushed the update_ctnnb1_crc_msk_2017 branch from e13a290 to cb05caf Compare June 21, 2023 23:01
@rmadupuri rmadupuri closed this Jun 21, 2023
@rmadupuri rmadupuri deleted the update_ctnnb1_crc_msk_2017 branch June 21, 2023 23:02
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Update Yaeger et al CTNNB1 protein changes with those from reVUE
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