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

Basic Information

Gene ID

3091

Name

HIF1A

Synonymous

HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78;hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor);HIF1A;hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)

Definition

ARNT interacting protein|ARNT-interacting protein|HIF-1-alpha|PAS domain-containing protein 8|basic-helix-loop-helix-PAS protein MOP1|class E basic helix-loop-helix protein 78|hypoxia-inducible factor 1 alpha isoform I.3|hypoxia-inducible factor 1, alpha

Position

14q23.2

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for HIF1A

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.T666S; chr14:62207809-62207809

lungadenocarcinoma; carcinoma

p.Y66C; chr14:62187261-62187261

lungsquamous_cell_carcinoma; carcinoma

p.Q697E; chr14:62207902-62207902

lungnon_small_cell_carcinoma; carcinoma

p.E269*; chr14:62199167-62199167

lungadenocarcinoma; carcinoma

p.R754C; chr14:62212466-62212466

lungsmall_cell_carcinoma; carcinoma


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