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

Basic Information

Gene ID

2308

Name

FOXO1

Synonymous

forkhead box O1;FOXO1;forkhead box O1

Definition

forkhead box protein O1|forkhead box protein O1A|forkhead, Drosophila, homolog of, in rhabdomyosarcoma

Position

13q14.1

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.09.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1566T>C; p.H522H; 13:40559925-40559925

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1649C>T; p.S550L; 13:40559842-40559842

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1649C>T; p.S550L; 13:40559842-40559842

 skinmalignant_melanomaSubstitution - Missense

c.648T>A; p.N216K; 13:40560843-40560843

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.976G>C; p.G326R; 13:40560515-40560515

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1080C>T; p.P360P; 13:40560411-40560411

 skinmalignant_melanomaSubstitution - coding silent

c.967A>G; p.T323A; 13:40560524-40560524

 skinmalignant_melanomaSubstitution - Missense

c.1275A>G; p.T425T; 13:40560216-40560216

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1340C>T; p.S447L; 13:40560151-40560151

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1056C>T; p.A352A; 13:40560435-40560435

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.119C>T; p.S40F; 13:40666094-40666094

 kidneyother; neoplasmSubstitution - Missense

c.800G>A; p.R267Q; 13:40560691-40560691

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.69C>T; p.C23C; 13:40666144-40666144

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.996G>C; p.M332I; 13:40560495-40560495

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1416C>G; p.P472P; 13:40560075-40560075

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1416C>G; p.P472P; 13:40560075-40560075

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.1485C>T; p.N495N; 13:40560006-40560006

 ovaryother; neoplasmSubstitution - coding silent

c.1736C>A; p.S579Y; 13:40559755-40559755

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1684G>A; p.V562I; 13:40559807-40559807

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1739C>T; p.S580F; 13:40559752-40559752

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.567G>A; p.W189*; 13:40665646-40665646

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Nonsense

c.562G>A; p.E188K; 13:40665651-40665651

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.28A>G; p.I10V; 13:40666185-40666185

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1280G>T; p.G427V; 13:40560211-40560211

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1373C>T; p.A458V; 13:40560118-40560118

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1609C>T; p.R537C; 13:40559882-40559882

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1073C>T; p.T358I; 13:40560418-40560418

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.751A>C; p.R251R; 13:40560740-40560740

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1A>G; p.M1V; 13:40666212-40666212

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1721C>A; p.A574D; 13:40559770-40559770

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.774C>T; p.D258D; 13:40560717-40560717

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.56G>C; p.R19P; 13:40666157-40666157

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.925A>G; p.N309D; 13:40560566-40560566

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.640C>T; p.R214C; 13:40560851-40560851

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1550_1552delTGA; p.M517delM; 13:40559939-40559941

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.925A>G; p.N309D; 13:40560566-40560566

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1770G>T; p.M590I; 13:40559721-40559721

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.641G>A; p.R214H; 13:40560850-40560850

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.608G>A; p.S203N; 13:40665605-40665605

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.1217C>T; p.S406L; 13:40560274-40560274

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.943_944CC>TT; p.P315F; 13:40560547-40560548

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1218G>A; p.S406S; 13:40560273-40560273

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.984C>G; p.L328L; 13:40560507-40560507

 kidneyother; neoplasmSubstitution - coding silent

c.1269delA; p.K423fs*9; 13:40560222-40560222

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.56G>A; p.R19Q; 13:40666157-40666157

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1337A>C; p.K446T; 13:40560154-40560154

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.70A>G; p.T24A; 13:40666143-40666143

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1344T>G; p.S448R; 13:40560147-40560147

 skinmalignant_melanomaSubstitution - Missense

c.1028T>A; p.V343E; 13:40560463-40560463

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.513G>A; p.K171K; 13:40665700-40665700

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1657A>G; p.N553D; 13:40559834-40559834

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1328A>G; p.Q443R; 13:40560163-40560163

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.805C>T; p.R269*; 13:40560686-40560686

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1604A>C; p.N535T; 13:40559887-40559887

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.579C>A; p.S193R; 13:40665634-40665634

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.1A>T; p.M1L; 13:40666212-40666212

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1105G>A; p.E369K; 13:40560386-40560386

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.926A>G; p.N309S; 13:40560565-40560565

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.926A>G; p.N309S; 13:40560565-40560565

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.947G>A; p.R316Q; 13:40560544-40560544

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.947G>A; p.R316Q; 13:40560544-40560544

 breastcarcinomaSubstitution - Missense

c.1649C>G; p.S550W; 13:40559842-40559842

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1763G>A; p.G588D; 13:40559728-40559728

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1241T>C; p.L414S; 13:40560250-40560250

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.836C>T; p.S279F; 13:40560655-40560655

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.738C>T; p.S246S; 13:40560753-40560753

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.738C>T; p.S246S; 13:40560753-40560753

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1143C>T; p.L381L; 13:40560348-40560348

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1736_1737CC>TT; p.S579F; 13:40559754-40559755

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.929G>T; p.W310L; 13:40560562-40560562

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1223C>T; p.A408V; 13:40560268-40560268

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1223C>T; p.A408V; 13:40560268-40560268

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.64T>C; p.S22P; 13:40666149-40666149

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1506G>A; p.S502S; 13:40559985-40559985

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1941A>G; p.T647T; 13:40559550-40559550

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.64T>C; p.S22P; 13:40666149-40666149

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1360C>T; p.Q454*; 13:40560131-40560131

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1825C>T; p.R609C; 13:40559666-40559666

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1386G>C; p.L462F; 13:40560105-40560105

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.426T>C; p.A142A; 13:40665787-40665787

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.940C>T; p.R314C; 13:40560551-40560551

 skinmalignant_melanomaSubstitution - Missense

c.940C>T; p.R314C; 13:40560551-40560551

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.940C>T; p.R314C; 13:40560551-40560551

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.544A>G; p.T182A; 13:40665669-40665669

 ovaryother; neoplasmSubstitution - Missense

c.779A>G; p.N260S; 13:40560712-40560712

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.591C>G; p.F197L; 13:40665622-40665622

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1380A>G; p.G460G; 13:40560111-40560111

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1595C>A; p.S532Y; 13:40559896-40559896

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1493T>C; p.M498T; 13:40559998-40559998

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.71C>T; p.T24I; 13:40666142-40666142

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.630+6T>G; p.?; 13:40665577-40665577

 livercarcinomaUnknown

c.71C>T; p.T24I; 13:40666142-40666142

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.71C>T; p.T24I; 13:40666142-40666142

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1866C>G; p.L622L; 13:40559625-40559625

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1170G>A; p.S390S; 13:40560321-40560321

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.224G>C; p.S75T; 13:40665989-40665989

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.61C>T; p.R21C; 13:40666152-40666152

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.673C>T; p.R225C; 13:40560818-40560818

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.869C>A; p.S290*; 13:40560622-40560622

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.1145C>T; p.S382L; 13:40560346-40560346

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1325T>G; p.L442R; 13:40560166-40560166

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1905G>A; p.V635V; 13:40559586-40559586

 skinmalignant_melanomaSubstitution - coding silent

c.96T>A; p.F32L; 13:40666117-40666117

 livercarcinomaSubstitution - Missense

c.96T>A; p.F32L; 13:40666117-40666117

 livercarcinomaSubstitution - Missense

c.1374G>A; p.A458A; 13:40560117-40560117

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1374G>A; p.A458A; 13:40560117-40560117

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.990C>T; p.P330P; 13:40560501-40560501

 skinmalignant_melanomaSubstitution - coding silent

c.1374G>A; p.A458A; 13:40560117-40560117

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.878C>A; p.S293Y; 13:40560613-40560613

 breastcarcinomaSubstitution - Missense

c.1556C>T; p.P519L; 13:40559935-40559935

 skinmalignant_melanomaSubstitution - Missense

c.1222G>A; p.A408T; 13:40560269-40560269

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1120C>A; p.L374I; 13:40560371-40560371

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1545A>C; p.K515N; 13:40559946-40559946

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.674G>A; p.R225H; 13:40560817-40560817

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.674G>A; p.R225H; 13:40560817-40560817

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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