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

Basic Information

Gene ID

3037

Name

HAS2

Synonymous

-;hyaluronan synthase 2;HAS2;hyaluronan synthase 2

Definition

HA synthase 2|hyaluronate synthase 2|hyaluronic acid synthase 2

Position

8q24.12

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; chr8;122399652;rs13267240;C/T; + +

1.3472e10-3; 6.2847e10-4; 0.225; 0.17040.3949; 0.2394; 0.2204

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.P449P; chr8:122626661-122626661

lungadenocarcinoma; carcinoma

p.S143*; chr8:122641153-122641153

lungadenocarcinoma; carcinoma

p.N150Y; chr8:122641133-122641133

lungadenocarcinoma; carcinoma

p.P112H; chr8:122641246-122641246

lungsquamous_cell_carcinoma; carcinoma

p.T352T; chr8:122626952-122626952

lungadenocarcinoma; carcinoma

p.L518F; chr8:122626456-122626456

lungadenocarcinoma; carcinoma

p.T172T; chr8:122641065-122641065

lungsquamous_cell_carcinoma; carcinoma

p.R400Q; chr8:122626809-122626809

lungadenocarcinoma; carcinoma

p.A197V; chr8:122640991-122640991

lungsquamous_cell_carcinoma; carcinoma

p.S257R; chr8:122627237-122627237

lungadenocarcinoma; carcinoma

p.W187*; chr8:122641020-122641020

lungadenocarcinoma; carcinoma

p.M138I; chr8:122641167-122641167

lungadenocarcinoma; carcinoma

p.P449P; chr8:122626661-122626661

lungadenocarcinoma; carcinoma

p.V210F; chr8:122629446-122629446

lungadenocarcinoma; carcinoma

p.P78H; chr8:122641348-122641348

lungsmall_cell_carcinoma; carcinoma

p.W404L; chr8:122626797-122626797

lungadenocarcinoma; carcinoma

p.I58M; chr8:122641407-122641407

lungadenocarcinoma; carcinoma

p.F52I; chr8:122641427-122641427

lungsquamous_cell_carcinoma; carcinoma

p.S55S; chr8:122641416-122641416

lungsquamous_cell_carcinoma; carcinoma

p.W354C; chr8:122626946-122626946

lungadenocarcinoma; carcinoma

p.V481L; chr8:122626567-122626567

lungadenocarcinoma; carcinoma

p.M130I; chr8:122641191-122641191

lungadenocarcinoma; carcinoma

p.E94D; chr8:122641299-122641299

lungsmall_cell_carcinoma; carcinoma

p.Q35*; chr8:122641478-122641478

lungadenocarcinoma; carcinoma


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