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

Basic Information

Gene ID

1889

Name

ECE1

Synonymous

ECE;endothelin converting enzyme 1;ECE1;endothelin converting enzyme 1

Definition

ECE-1|endothelin-converting enzyme 1

Position

1p36.1

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for ECE1

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.S541S; chr1:21560098-21560098

lungadenocarcinoma; carcinoma

p.R183S; chr1:21586832-21586832

lungadenocarcinoma; carcinoma

p.E466*; chr1:21563331-21563331

lungadenocarcinoma; carcinoma

p.A446A; chr1:21564678-21564678

lungsquamous_cell_carcinoma; carcinoma

p.G280V; chr1:21582621-21582621

lungadenocarcinoma; carcinoma

p.G444C; chr1:21564686-21564686

lungadenocarcinoma; carcinoma

p.C122Y; chr1:21599320-21599320

lungadenocarcinoma; carcinoma

p.S742F; chr1:21546536-21546536

lungadenocarcinoma; carcinoma

p.G661V; chr1:21551801-21551801

lungadenocarcinoma; carcinoma

p.L469P; chr1:21563321-21563321

lungsmall_cell_carcinoma; carcinoma

p.G656W; chr1:21551817-21551817

lungsquamous_cell_carcinoma; carcinoma

p.A678S; chr1:21551751-21551751

lungadenocarcinoma; carcinoma

p.?; chr1:21548343-21548343

lungsquamous_cell_carcinoma; carcinoma

p.N391N; chr1:21571587-21571587

lungsquamous_cell_carcinoma; carcinoma


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