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

Basic Information

Gene ID

2006

Name

ELN

Synonymous

SVAS|WBS|WS;elastin;ELN;elastin

Definition

tropoelastin

Position

7q11.23

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for ELN

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.A385T; chr7:73470603-73470603

lungadenocarcinoma; carcinoma

p.A314S; chr7:73466304-73466304

lungsquamous_cell_carcinoma; carcinoma

p.I208I; chr7:73461078-73461078

lungadenocarcinoma; carcinoma

p.G558S; chr7:73474756-73474756

lungsquamous_cell_carcinoma; carcinoma

p.G251G; chr7:73462840-73462840

lungsquamous_cell_carcinoma; carcinoma

p.P211A; chr7:73461085-73461085

lungadenocarcinoma; carcinoma

p.?; chr7:73450880-73450880

lungsquamous_cell_carcinoma; carcinoma

p.V489I; chr7:73474266-73474266

lungsquamous_cell_carcinoma; carcinoma

p.P161H; chr7:73459564-73459564

lungadenocarcinoma; carcinoma

p.L686L; chr7:73480297-73480297

lungadenocarcinoma; carcinoma

p.P405P; chr7:73470665-73470665

lungadenocarcinoma; carcinoma

p.A210A; chr7:73461084-73461084

lungsquamous_cell_carcinoma; carcinoma

p.G398W; chr7:73470642-73470642

lungadenocarcinoma; carcinoma


')