Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

3127

Name

HLA-DRB5

Synonymous

HLA-DRB;major histocompatibility complex, class II, DR beta 5;HLA-DRB5;major histocompatibility complex, class II, DR beta 5

Definition

DR beta-5|DR-9|DR2-beta-2|DR9|HLA class II histocompatibility antigen, DR beta 5 chain|HLA class II histocompatibility antigen, DR-5 beta chain|HLA class II histocompatibility antigen, DRB1-9 beta chain|MHC HLA-DR-beta cell surface glycoprotein|MHC HLA-DR

Position

6p21.3

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; chr6;32557389;rs1964995;T/C; + -

7.5839e10-3; 4.4696e10-4; 0.4338; 0.37720.151; 0.3961; 0.4354

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.E157K; chr6:32487330-32487330

lungsquamous_cell_carcinoma; carcinoma

p.L4L; chr6:32497990-32497990

lungsquamous_cell_carcinoma; carcinoma

p.A13fs*3; chr6:32497965-32497965

lungadenocarcinoma; carcinoma

p.D31N; chr6:32497911-32497911

lungsquamous_cell_carcinoma; carcinoma


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