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

Basic Information

Gene ID

1373

Name

CPS1

Synonymous

CPSASE1;carbamoyl-phosphate synthase 1, mitochondrial;CPS1;carbamoyl-phosphate synthase 1, mitochondrial

Definition

carbamoyl-phosphate synthase [ammonia], mitochondrial|carbamoylphosphate synthetase I

Position

2q35

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for CPS1

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.W1397*; chr2:211540481-211540481

lungadenocarcinoma; carcinoma

p.R233L; chr2:211452858-211452858

lungadenocarcinoma; carcinoma

p.N1257K; chr2:211525223-211525223

lungadenocarcinoma; carcinoma

p.V469F; chr2:211464141-211464141

lungadenocarcinoma; carcinoma

p.M656I; chr2:211469957-211469957

lungsquamous_cell_carcinoma; carcinoma

p.M656N; chr2:211469956-211469957

lungsquamous_cell_carcinoma; carcinoma

p.M656K; chr2:211469956-211469956

lungsquamous_cell_carcinoma; carcinoma

p.L112P; chr2:211441168-211441168

lungadenocarcinoma; carcinoma

p.Q1082P; chr2:211512690-211512690

lungsquamous_cell_carcinoma; carcinoma

p.G731C; chr2:211471664-211471664

lungsquamous_cell_carcinoma; carcinoma

p.P1125H; chr2:211513234-211513234

lungsquamous_cell_carcinoma; carcinoma

p.G509D; chr2:211464262-211464262

lungadenocarcinoma; carcinoma

p.Y959Y; chr2:211503921-211503921

lungadenocarcinoma; carcinoma

p.L864I; chr2:211481168-211481168

lungsquamous_cell_carcinoma; carcinoma

p.L864I; chr2:211481167-211481168

lungsquamous_cell_carcinoma; carcinoma

p.S863S; chr2:211481167-211481167

lungsquamous_cell_carcinoma; carcinoma

p.R826S; chr2:211476925-211476925

lungadenocarcinoma; carcinoma

p.A479A; chr2:211464173-211464173

lungadenocarcinoma; carcinoma

p.P384Q; chr2:211457667-211457667

lungadenocarcinoma; carcinoma

p.?; chr2:211518747-211518747

lungadenocarcinoma; carcinoma

p.R803S; chr2:211476856-211476856

lungadenocarcinoma; carcinoma

p.A1119V; chr2:211513216-211513216

lungadenocarcinoma; carcinoma

p.H1447D; chr2:211541795-211541795

lungadenocarcinoma; carcinoma

p.?; chr2:211456551-211456551

lungsquamous_cell_carcinoma; carcinoma

p.Q437H; chr2:211460258-211460258

lungsquamous_cell_carcinoma; carcinoma

p.D358V; chr2:211456680-211456680

lungadenocarcinoma; carcinoma

p.V41V; chr2:211421580-211421580

lungadenocarcinoma; carcinoma

p.G1072G; chr2:211512661-211512661

lungadenocarcinoma; carcinoma

p.E1034*; chr2:211507348-211507348

lungadenocarcinoma; carcinoma

p.P265Q; chr2:211454912-211454912

lungadenocarcinoma; carcinoma

p.D1123N; chr2:211513227-211513227

lungsquamous_cell_carcinoma; carcinoma

p.L1296F; chr2:211525340-211525340

lungsquamous_cell_carcinoma; carcinoma

p.A240D; chr2:211454837-211454837

lungsmall_cell_carcinoma; carcinoma

p.Q1160L; chr2:211515161-211515161

lungadenocarcinoma; carcinoma

p.E440E; chr2:211460267-211460267

lungadenocarcinoma; carcinoma

p.K207E; chr2:211447431-211447431

lungadenocarcinoma; carcinoma

p.M542L; chr2:211465353-211465353

lungadenocarcinoma; carcinoma

p.L931R; chr2:211502530-211502530

lungsquamous_cell_carcinoma; carcinoma

p.Q188K; chr2:211447374-211447374

lungsquamous_cell_carcinoma; carcinoma

p.V482V; chr2:211464182-211464182

lungsquamous_cell_carcinoma; carcinoma

p.L506M; chr2:211464252-211464252

lungadenocarcinoma; carcinoma

p.H1162Y; chr2:211518752-211518752

lungadenocarcinoma; carcinoma

p.V1095I; chr2:211512728-211512728

lungsquamous_cell_carcinoma; carcinoma

p.K908N; chr2:211502462-211502462

lungsquamous_cell_carcinoma; carcinoma

p.R1481R; chr2:211542649-211542649

lungsquamous_cell_carcinoma; carcinoma

p.?; chr2:211542608-211542608

lungsquamous_cell_carcinoma; carcinoma

p.A1155S; chr2:211515145-211515145

lungsquamous_cell_carcinoma; carcinoma

p.G1430V; chr2:211541745-211541745

lungsmall_cell_carcinoma; carcinoma

p.A347A; chr2:211456648-211456648

lungadenocarcinoma; carcinoma

p.V245F; chr2:211454851-211454851

lungadenocarcinoma; carcinoma

p.V1278V; chr2:211525286-211525286

lungadenocarcinoma; carcinoma

p.F1275F; chr2:211525277-211525277

lungadenocarcinoma; carcinoma

p.A43A; chr2:211438024-211438024

lungadenocarcinoma; carcinoma

p.P411S; chr2:211459298-211459298

lungadenocarcinoma; carcinoma

p.P774P; chr2:211473214-211473214

lungadenocarcinoma; carcinoma

p.?; chr2:211532908-211532908

lungadenocarcinoma; carcinoma

p.H63Q; chr2:211438084-211438084

lungsquamous_cell_carcinoma; carcinoma

p.S898C; chr2:211502431-211502431

lungsquamous_cell_carcinoma; carcinoma

p.I1083I; chr2:211512694-211512694

lungadenocarcinoma; carcinoma

p.L526F; chr2:211465305-211465305

lungsquamous_cell_carcinoma; carcinoma

p.V1306A; chr2:211525369-211525369

lungadenocarcinoma; carcinoma

p.Q151H; chr2:211442216-211442216

lungsmall_cell_carcinoma; carcinoma

p.T1443A; chr2:211541783-211541783

lungsquamous_cell_carcinoma; carcinoma

p.P464R; chr2:211464127-211464127

lungadenocarcinoma; carcinoma

p.A1310S; chr2:211527847-211527847

lungadenocarcinoma; carcinoma

p.Q437H; chr2:211460258-211460258

lungsmall_cell_carcinoma; carcinoma

p.C516S; chr2:211464283-211464283

lungadenocarcinoma; carcinoma

p.H659H; chr2:211469966-211469966

lungsmall_cell_carcinoma; carcinoma

p.L921L; chr2:211502501-211502501

lungadenocarcinoma; carcinoma

p.I201N; chr2:211447414-211447414

lungsquamous_cell_carcinoma; carcinoma

p.T1207N; chr2:211521310-211521310

lungsquamous_cell_carcinoma; carcinoma

p.S1331S; chr2:211527912-211527912

lungadenocarcinoma; carcinoma

p.G692D; chr2:211471548-211471548

lungsquamous_cell_carcinoma; carcinoma

p.T849K; chr2:211476995-211476995

lungsquamous_cell_carcinoma; carcinoma

p.A334D; chr2:211456608-211456608

lungadenocarcinoma; carcinoma

p.V221L; chr2:211452821-211452821

lungsmall_cell_carcinoma; carcinoma

p.T849K; chr2:211476995-211476995

lungsquamous_cell_carcinoma; carcinoma

p.V1142V; chr2:211515108-211515108

lungadenocarcinoma; carcinoma

p.G1376C; chr2:211539650-211539650

lungadenocarcinoma; carcinoma

p.P1080T; chr2:211512683-211512683

lungadenocarcinoma; carcinoma

p.R1453Q; chr2:211541814-211541814

lungsmall_cell_carcinoma; carcinoma

p.V622L; chr2:211469853-211469853

lungsquamous_cell_carcinoma; carcinoma

p.S423F; chr2:211460215-211460215

lungsquamous_cell_carcinoma; carcinoma

p.P733P; chr2:211473091-211473091

lungadenocarcinoma; carcinoma

p.P733P; chr2:211473091-211473091

lungadenocarcinoma; carcinoma

p.W152R; chr2:211442217-211442217

lungadenocarcinoma; carcinoma

p.?; chr2:211502425-211502425

lungsquamous_cell_carcinoma; carcinoma

p.L1116P; chr2:211513207-211513207

lungadenocarcinoma; carcinoma

p.P733L; chr2:211473090-211473090

lungsquamous_cell_carcinoma; carcinoma

p.G187C; chr2:211447371-211447371

lungsquamous_cell_carcinoma; carcinoma

p.D860E; chr2:211481158-211481158

lungadenocarcinoma; carcinoma

p.G507V; chr2:211464256-211464256

lungadenocarcinoma; carcinoma

p.R1492G; chr2:211542680-211542680

lungadenocarcinoma; carcinoma

p.W1410L; chr2:211540519-211540519

lungadenocarcinoma; carcinoma

p.W143R; chr2:211442190-211442190

lungadenocarcinoma; carcinoma

p.M1350T; chr2:211532956-211532956

lungadenocarcinoma; carcinoma

p.P746L; chr2:211473129-211473129

lungadenocarcinoma; carcinoma

p.P583A; chr2:211466965-211466965

lungadenocarcinoma; carcinoma

p.P273Q; chr2:211454936-211454936

lungadenocarcinoma; carcinoma

p.?; chr2:211502574-211502574

lungsquamous_cell_carcinoma; carcinoma

p.K287*; chr2:211455542-211455542

lungadenocarcinoma; carcinoma

p.E1221K; chr2:211521351-211521351

lungadenocarcinoma; carcinoma

p.T166I; chr2:211444463-211444463

lungadenocarcinoma; carcinoma

p.T646I; chr2:211469926-211469926

lungsquamous_cell_carcinoma; carcinoma

p.M976I; chr2:211504752-211504752

lungadenocarcinoma; carcinoma

p.*1501W; chr2:211542708-211542708

lungadenocarcinoma; carcinoma

p.V209V; chr2:211452787-211452787

lungadenocarcinoma; carcinoma

p.T493A; chr2:211464213-211464213

lungsmall_cell_carcinoma; carcinoma

p.A1409V; chr2:211540516-211540516

lungadenocarcinoma; carcinoma

p.*1501W; chr2:211542708-211542708

lungadenocarcinoma; carcinoma

p.L1434I; chr2:211541756-211541756

lungadenocarcinoma; carcinoma

p.R1001S; chr2:211507249-211507249

lungadenocarcinoma; carcinoma

p.?; chr2:211444504-211444504

lungsquamous_cell_carcinoma; carcinoma

p.?; chr2:211503940-211503940

lungadenocarcinoma; carcinoma

p.K55*; chr2:211438058-211438058

lungsmall_cell_carcinoma; carcinoma

p.V23V; chr2:211421526-211421526

lungadenocarcinoma; carcinoma


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