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

Basic Information

Gene ID

51099

Name

ABHD5

Synonymous

CDS|CGI58|IECN2|NCIE2;abhydrolase domain containing 5;ABHD5;abhydrolase domain containing 5

Definition

1-acylglycerol-3-phosphate O-acyltransferase ABHD5|abhydrolase domain-containing protein 5|lipid droplet-binding protein CGI-58

Position

3p21

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for ABHD5

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.R297P; chr3:43759279-43759279

lungsquamous_cell_carcinoma; carcinoma

p.K75K; chr3:43743798-43743798

lungadenocarcinoma; carcinoma

p.L154L; chr3:43744035-43744035

lungadenocarcinoma; carcinoma

p.?; chr3:43759155-43759155

lungsquamous_cell_carcinoma; carcinoma

p.V132V; chr3:43743969-43743969

lungadenocarcinoma; carcinoma


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