| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 5136 |
Name | PDE1A |
Synonymous | CAM-PDE-1A|HCAM-1|HCAM1|HSPDE1A;phosphodiesterase 1A, calmodulin-dependent;PDE1A;phosphodiesterase 1A, calmodulin-dependent |
Definition | 61 kDa Cam-PDE|calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A|calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase|cam-PDE 1A |
Position | 2q32.1 |
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) |
|---|---|---|
intron; chr2;183084098;rs2887217;G/A; + - |
1.4489e10-4; 1.7979e10-4; 0.4559; 0.373 | 0.322; 0.3649; 0.3899 |
Lung cancer [Top] | ||
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
p.L75P; chr2:183105011-183105011 |
lung | adenocarcinoma; carcinoma |
p.L376L; chr2:183066211-183066211 |
lung | squamous_cell_carcinoma; carcinoma |
p.W160R; chr2:183095846-183095846 |
lung | adenocarcinoma; carcinoma |
p.R473K; chr2:183050765-183050765 |
lung | squamous_cell_carcinoma; carcinoma |
p.I68I; chr2:183129039-183129039 |
lung | adenocarcinoma; carcinoma |
p.H363H; chr2:183066250-183066250 |
lung | squamous_cell_carcinoma; carcinoma |
p.L281F; chr2:183070774-183070774 |
lung | adenocarcinoma; carcinoma |
p.T6K; chr2:183387087-183387087 |
lung | adenocarcinoma; carcinoma |
p.E445*; chr2:183051238-183051238 |
lung | adenocarcinoma; carcinoma |
p.A166D; chr2:183095827-183095827 |
lung | adenocarcinoma; carcinoma |
p.E57*; chr2:183129074-183129074 |
lung | adenocarcinoma; carcinoma |
p.G392V; chr2:183053786-183053786 |
lung | adenocarcinoma; carcinoma |
p.?; chr2:183387000-183387000 |
lung | squamous_cell_carcinoma; carcinoma |
p.R103R; chr2:183104928-183104928 |
lung | squamous_cell_carcinoma; carcinoma |
p.I342M; chr2:183066441-183066441 |
lung | adenocarcinoma; carcinoma |
p.?; chr2:183053788-183053788 |
lung | adenocarcinoma; carcinoma |
p.V152L; chr2:183099170-183099170 |
lung | squamous_cell_carcinoma; carcinoma |