SOCS1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.

Mutation tier

Entity Tier Description
DLBCL 1-a high-confidence DLBCL gene, hypermutated
FL 1-a high-confidence FL gene, hypermutated
BL 2 relevance in BL not firmly established

Mutation incidence

Entity source frequency (%)
BL GAMBL genomes+capture 1.85
BL Thomas cohort 1.70
BL Panea cohort 3.00
DLBCL GAMBL genomes 15.30
DLBCL Schmitz cohort 12.80
DLBCL Reddy cohort 10.40
DLBCL Chapuy cohort 4.70
FL GAMBL genomes 9.70

Mutation pattern

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 4.476 0.000
DLBCL Yes Yes 5.023 17.509
FL Yes Yes 21.460 123.344

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr16 11347512 11350007 intron-1 enhancer

## SOCS1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr16 11349022 T>C D105G
chr16 11349019 C>T S106N
chr16 11349018 G>C S106R
chr16 11349006 G>C N110K
chr16 11349004 C>T C111Y
chr16 11349004 C>G C111S
chr16 11349003 G>C C111W
chr16 11349001 A>T F112Y
chr16 11348989 C>T S116N
chr16 11348988 G>C S116R
chr16 11348987 C>T V117M
chr16 11348981 T>C M119V
chr16 11348980 A>T M119K
chr16 11348977 G>C A120G
chr16 11348972 C>T G122R
chr16 11348972 C>A G122*
chr16 11348969 G>A P123S
chr16 11348962 C>G S125T
chr16 11348956 C>T R127H
chr16 11348951 G>T H129N
chr16 11348951 G>A H129Y
chr16 11348945 G>A Q131*
chr16 11348936 G>A R134C
chr16 11348933 A>G F135L
chr16 11348932 A>C F135C

View coding variants in ProteinPaint hg19 or hg38

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View all variants in GenomePaint hg19 or hg38

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