General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 147381 |
Name | CBLN2 |
Synonymous | -;cerebellin 2 precursor;CBLN2;cerebellin 2 precursor |
Definition | cerebellin-2 |
Position | 18q22.3 |
Gene Type | protein-coding |
Gene Mutation: | GWAS results PAH samples Lung cancer |
GWAS results [Top] | ||
Variant (Location; Chr; Position; SNP; Allele; Homogeneity) |
Discovery Cohort (Cochran-Armitage Trend Test P-value; P-value from Eigenstrat; MAF cases; MAF controls) |
Replication Cohort (Cochran-Armitage Trend Test P-value; MAF cases; MAF controls) |
---|---|---|
flanking_3UTR; chr18;68301919;rs2217560;A/G; + + |
1.5600e10-5; 3.8821e10-4; 0.1235; 0.07022 | 1.63e10-5; 0.132; 0.06579 |
flanking_3UTR; chr18;68307103;rs9916909;C/A; + + |
3.3200e10-5; 5.6354e10-4; 0.125; 0.07303 | 3.50e10-5; 0.1368; 0.07112 |
Lung cancer [Top] | ||
Mutation (Type; AA; Chr) |
Site |
Histology |
---|---|---|
p.D176E; chr18:70205558-70205558 |
lung | small_cell_carcinoma; carcinoma |
p.L220F; chr18:70205426-70205426 |
lung | squamous_cell_carcinoma; carcinoma |
p.L60M; chr18:70209218-70209218 |
lung | adenocarcinoma; carcinoma |
p.T79S; chr18:70209161-70209161 |
lung | adenocarcinoma; carcinoma |
p.H199Q; chr18:70205489-70205489 |
lung | adenocarcinoma; carcinoma |
p.I115I; chr18:70209051-70209051 |
lung | squamous_cell_carcinoma; carcinoma |
p.?; chr18:70209031-70209031 |
lung | adenocarcinoma; carcinoma |
p.L200P; chr18:70205487-70205487 |
lung | squamous_cell_carcinoma; carcinoma |
p.P57H; chr18:70209226-70209226 |
lung | adenocarcinoma; carcinoma |
p.E61*; chr18:70209215-70209215 |
lung | small_cell_carcinoma; carcinoma |
p.P57P; chr18:70209225-70209225 |
lung | adenocarcinoma; carcinoma |
p.S146T; chr18:70205928-70205928 |
lung | squamous_cell_carcinoma; carcinoma |
p.G125F; chr18:70205991-70205992 |
lung | adenocarcinoma; carcinoma |
p.G20W; chr18:70209338-70209338 |
lung | small_cell_carcinoma; carcinoma |
p.H127Q; chr18:70205984-70205984 |
lung | adenocarcinoma; carcinoma |
p.I158I; chr18:70205891-70205891 |
lung | adenocarcinoma; carcinoma |
p.P138Q; chr18:70205952-70205952 |
lung | adenocarcinoma; carcinoma |
p.V188L; chr18:70205524-70205524 |
lung | squamous_cell_carcinoma; carcinoma |
p.H127N; chr18:70205986-70205986 |
lung | adenocarcinoma; carcinoma |
p.G187V; chr18:70205526-70205526 |
lung | adenocarcinoma; carcinoma |
p.L202L; chr18:70205480-70205480 |
lung | small_cell_carcinoma; carcinoma |
p.R87S; chr18:70209137-70209137 |
lung | adenocarcinoma; carcinoma |