2. • Tumor suppressor genes (TSGs), as their inhibit tumor
development; if both copies of the gene receive
inactivating mutations, the suppressive action is
switched off and tumor growth is promoted.
• Oncogenes promote cancer growth when sufficient
signal is achieved.
• Haploinsufficiency describes a genetic relationship in a
diploid organism in which loss of one copy of a gene
causes a phenotype.
• The converse is triplosensitivity, in which an additional
copy of a gene produces a phenotype.
3.
4. OG TSG Neutral
Gene
50 50 10917
CGC
database
Training Set
PolyPhen2
HiFI LoFI
High Functional
Impact
Low Functional
Impact
5. Silent mutations/kb*
Total N Missense mutations
Total N LOF mutations
Total N of Splicing mutations
Missense mutations/kb*
LOF mutations/kb*
Entropy score for missense mutations
LOF/Silent ratio
Splicing/Silent ratio
Missense/Silent ratio
HiFi missense/LoFI missense ratio
LOF/Benign ratio
Splicing/Benign ratio
Missense/Benign ratio
HiFi missense/Benign ratio
Average PolyPhen2 score for missense
LOF/Total Mutations
Missense/Total Mutations
Splicing/Total Mutations
LOF/Missense mutations
High-level Deletion frequency
High-level Amplification frequency
22 Features
Training Set
OG TSG
Neutral
Gene
50 50 10917
CGC
database
Tumor Suppressor and Oncogene Explorer (TUSON Explorer)