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

Basic Information

Gene ID

1636

Name

ACE

Synonymous

ACE1|CD143|DCP|DCP1|ICH|MVCD3;angiotensin I converting enzyme (peptidyl-dipeptidase A) 1;ACE;angiotensin I converting enzyme (peptidyl-dipeptidase A) 1

Definition

CD143 antigen|angiotensin I converting enzyme peptidyl-dipeptidase A 1 transcript|angiotensin converting enzyme, somatic isoform|angiotensin-converting enzyme|carboxycathepsin|dipeptidyl carboxypeptidase 1|dipeptidyl carboxypeptidase I|kininase II|peptida

Position

17q23.3

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for ACE

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.L860M; chr17:61566430-61566430

lungsmall_cell_carcinoma; carcinoma

p.F93F; chr17:61555321-61555321

lungadenocarcinoma; carcinoma

p.P938R; chr17:61568643-61568643

lungadenocarcinoma; carcinoma

p.D302N; chr17:61558508-61558508

lungadenocarcinoma; carcinoma

p.K375N; chr17:61559833-61559833

lungadenocarcinoma; carcinoma

p.A786T; chr17:61566059-61566059

lungadenocarcinoma; carcinoma

p.N413K; chr17:61559947-61559947

lungadenocarcinoma; carcinoma

p.L104L; chr17:61555354-61555354

lungadenocarcinoma; carcinoma

p.L273L; chr17:61557861-61557861

lungsquamous_cell_carcinoma; carcinoma

p.?; chr17:61560819-61560819

lungsquamous_cell_carcinoma; carcinoma

p.H868Q; chr17:61566456-61566456

lungsmall_cell_carcinoma; carcinoma

p.?; chr17:61557690-61557690

lungsquamous_cell_carcinoma; carcinoma

p.N851N; chr17:61566405-61566405

lungadenocarcinoma; carcinoma

p.V156F; chr17:61556416-61556416

lungadenocarcinoma; carcinoma

p.?; chr17:61560047-61560052

lungadenocarcinoma; carcinoma

p.R228C; chr17:61557724-61557724

lungadenocarcinoma; carcinoma

p.E954D; chr17:61568692-61568692

lungsmall_cell_carcinoma; carcinoma

p.W628C; chr17:61561865-61561865

lungsquamous_cell_carcinoma; carcinoma

p.K973N; chr17:61570803-61570803

lungadenocarcinoma; carcinoma

p.R1073L; chr17:61571364-61571364

lungadenocarcinoma; carcinoma

p.E58*; chr17:61554627-61554627

lungadenocarcinoma; carcinoma

p.T916T; chr17:61568578-61568578

lungadenocarcinoma; carcinoma

p.L404V; chr17:61559918-61559918

lungadenocarcinoma; carcinoma

p.D222Y; chr17:61557706-61557706

lungadenocarcinoma; carcinoma

p.R1242C; chr17:61574530-61574530

lungsmall_cell_carcinoma; carcinoma

p.R840P; chr17:61566371-61566371

lungadenocarcinoma; carcinoma

p.D365H; chr17:61559074-61559074

lungadenocarcinoma; carcinoma

p.T679T; chr17:61562712-61562712

lungadenocarcinoma; carcinoma

p.R260C; chr17:61557820-61557820

lungadenocarcinoma; carcinoma

p.N74T; chr17:61554676-61554676

lungsquamous_cell_carcinoma; carcinoma

p.R918K; chr17:61568583-61568583

lungadenocarcinoma; carcinoma

p.T1227T; chr17:61574336-61574336

lungadenocarcinoma; carcinoma

p.K1202N; chr17:61574261-61574261

lungadenocarcinoma; carcinoma


')