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

Basic Information

Gene ID

5160

Name

PDHA1

Synonymous

PDHA|PDHCE1A|PHE1A;pyruvate dehydrogenase (lipoamide) alpha 1;PDHA1;pyruvate dehydrogenase (lipoamide) alpha 1

Definition

PDHE1-A type I|pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial|pyruvate dehydrogenase complex, E1-alpha polypeptide 1

Position

Xp22.1

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for PDHA1

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.A120S; chr23:19369465-19369465

lungadenocarcinoma; carcinoma

p.Q203Q; chr23:19373472-19373472

lungadenocarcinoma; carcinoma

p.?; chr23:19375768-19375768

lungadenocarcinoma; carcinoma

p.L104P; chr23:19369418-19369418

lungsquamous_cell_carcinoma; carcinoma

p.D95Y; chr23:19368220-19368220

lungsquamous_cell_carcinoma; carcinoma

p.?; chr23:19375842-19375842

lungsquamous_cell_carcinoma; carcinoma

p.A169A; chr23:19371288-19371288

lungsquamous_cell_carcinoma; carcinoma

p.R378C; chr23:19377730-19377730

lungadenocarcinoma; carcinoma

p.G202G; chr23:19373469-19373469

lungsquamous_cell_carcinoma; carcinoma

p.I87T; chr23:19368197-19368197

lungsquamous_cell_carcinoma; carcinoma

p.L329F; chr23:19377119-19377119

lungadenocarcinoma; carcinoma


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