Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
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; 0.070221.63e10-5; 0.132; 0.06579

flanking_3UTR; chr18;68307103;rs9916909;C/A; + +

3.3200e10-5; 5.6354e10-4; 0.125; 0.073033.50e10-5; 0.1368; 0.07112

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.D176E; chr18:70205558-70205558

lungsmall_cell_carcinoma; carcinoma

p.L220F; chr18:70205426-70205426

lungsquamous_cell_carcinoma; carcinoma

p.L60M; chr18:70209218-70209218

lungadenocarcinoma; carcinoma

p.T79S; chr18:70209161-70209161

lungadenocarcinoma; carcinoma

p.H199Q; chr18:70205489-70205489

lungadenocarcinoma; carcinoma

p.I115I; chr18:70209051-70209051

lungsquamous_cell_carcinoma; carcinoma

p.?; chr18:70209031-70209031

lungadenocarcinoma; carcinoma

p.L200P; chr18:70205487-70205487

lungsquamous_cell_carcinoma; carcinoma

p.P57H; chr18:70209226-70209226

lungadenocarcinoma; carcinoma

p.E61*; chr18:70209215-70209215

lungsmall_cell_carcinoma; carcinoma

p.P57P; chr18:70209225-70209225

lungadenocarcinoma; carcinoma

p.S146T; chr18:70205928-70205928

lungsquamous_cell_carcinoma; carcinoma

p.G125F; chr18:70205991-70205992

lungadenocarcinoma; carcinoma

p.G20W; chr18:70209338-70209338

lungsmall_cell_carcinoma; carcinoma

p.H127Q; chr18:70205984-70205984

lungadenocarcinoma; carcinoma

p.I158I; chr18:70205891-70205891

lungadenocarcinoma; carcinoma

p.P138Q; chr18:70205952-70205952

lungadenocarcinoma; carcinoma

p.V188L; chr18:70205524-70205524

lungsquamous_cell_carcinoma; carcinoma

p.H127N; chr18:70205986-70205986

lungadenocarcinoma; carcinoma

p.G187V; chr18:70205526-70205526

lungadenocarcinoma; carcinoma

p.L202L; chr18:70205480-70205480

lungsmall_cell_carcinoma; carcinoma

p.R87S; chr18:70209137-70209137

lungadenocarcinoma; carcinoma


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