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

Basic Information

Gene ID

2309

Name

FOXO3

Synonymous

forkhead box O3;FOXO3;forkhead box O3

Definition

forkhead box O3A|forkhead box protein O3|forkhead homolog (rhabdomyosarcoma) like 1|forkhead in rhabdomyosarcoma-like 1|forkhead, Drosophila, homolog of, in rhabdomyosarcoma-like 1

Position

6q21

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 0.11.

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.256G>C; p.G86R; 6:108561464-108561464

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1367C>A; p.P456Q; 6:108664200-108664200

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.1025_1026delCT; p.S344fs*27; 6:108663858-108663859

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1141_1142insG; p.L382fs*3; 6:108663974-108663975

 stomachcarcinoma; diffuse_adenocarcinomaInsertion - Frameshift

c.1286C>A; p.S429Y; 6:108664119-108664119

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1525G>T; p.V509L; 6:108664358-108664358

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1173G>A; p.L391L; 6:108664006-108664006

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.672G>A; p.Q224Q; 6:108663505-108663505

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1968delG; p.N658fs*>16; 6:108664801-108664801

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1019A>G; p.D340G; 6:108663852-108663852

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5C>T; p.A2V; 6:108561213-108561213

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.293C>T; p.A98V; 6:108561501-108561501

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.293C>T; p.A98V; 6:108561501-108561501

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.159C>G; p.A53A; 6:108561367-108561367

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.928C>T; p.R310C; 6:108663761-108663761

 skinmalignant_melanomaSubstitution - Missense

c.1376T>C; p.F459S; 6:108664209-108664209

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.202G>T; p.D68Y; 6:108561410-108561410

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1056C>G; p.A352A; 6:108663889-108663889

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1056C>G; p.A352A; 6:108663889-108663889

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.1056C>G; p.A352A; 6:108663889-108663889

 pancreascarcinoid-endocrine_tumourSubstitution - coding silent

c.1056C>G; p.A352A; 6:108663889-108663889

 pancreascarcinoid-endocrine_tumourSubstitution - coding silent

c.1056C>G; p.A352A; 6:108663889-108663889

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1056C>G; p.A352A; 6:108663889-108663889

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.896G>T; p.S299I; 6:108663729-108663729

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1056C>G; p.A352A; 6:108663889-108663889

 thyroidother; neoplasmSubstitution - coding silent

c.1056C>G; p.A352A; 6:108663889-108663889

 pancreascarcinomaSubstitution - coding silent

c.1190C>T; p.P397L; 6:108664023-108664023

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1299G>C; p.T433T; 6:108664132-108664132

 stomachadenocarcinomaSubstitution - coding silent

c.718G>T; p.G240W; 6:108663551-108663551

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1082C>T; p.P361L; 6:108663915-108663915

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.882C>T; p.S294S; 6:108663715-108663715

 skinmalignant_melanomaSubstitution - coding silent

c.685G>T; p.G229C; 6:108663518-108663518

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1107G>C; p.L369L; 6:108663940-108663940

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.260C>T; p.T87M; 6:108561468-108561468

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1626C>T; p.G542G; 6:108664459-108664459

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1304T>C; p.F435S; 6:108664137-108664137

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.492C>T; p.D164D; 6:108561700-108561700

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.665G>A; p.R222Q; 6:108663498-108663498

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1017T>C; p.D339D; 6:108663850-108663850

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1017T>C; p.D339D; 6:108663850-108663850

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1670T>G; p.M557R; 6:108664503-108664503

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.553G>A; p.E185K; 6:108561761-108561761

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.758C>T; p.S253F; 6:108663591-108663591

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1205C>T; p.S402L; 6:108664038-108664038

 skinmalignant_melanomaSubstitution - Missense

c.758C>T; p.S253F; 6:108663591-108663591

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1642C>T; p.R548C; 6:108664475-108664475

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1857C>T; p.S619S; 6:108664690-108664690

 thyroidother; neoplasmSubstitution - coding silent

c.33C>T; p.L11L; 6:108561241-108561241

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1022C>T; p.A341V; 6:108663855-108663855

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.924_928delCTTCC; p.D308fs*7; 6:108663757-108663761

 breastcarcinomaDeletion - Frameshift

c.1100C>T; p.P367L; 6:108663933-108663933

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1263G>A; p.S421S; 6:108664096-108664096

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.419C>T; p.A140V; 6:108561627-108561627

 thyroidother; neoplasmSubstitution - Missense

c.1251C>A; p.T417T; 6:108664084-108664084

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.742C>T; p.R248W; 6:108663575-108663575

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.737delC; p.R248fs*111; 6:108663570-108663570

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.664C>T; p.R222W; 6:108663497-108663497

 prostatecarcinomaSubstitution - Missense

c.1744A>C; p.T582P; 6:108664577-108664577

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.159C>T; p.A53A; 6:108561367-108561367

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.159C>T; p.A53A; 6:108561367-108561367

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.749G>A; p.R250Q; 6:108663582-108663582

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.747G>A; p.R249R; 6:108663580-108663580

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1165G>A; p.D389N; 6:108663998-108663998

 breastcarcinomaSubstitution - Missense

c.495G>T; p.L165L; 6:108561703-108561703

 thyroidother; neoplasmSubstitution - coding silent

c.968G>A; p.R323H; 6:108663801-108663801

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1003G>A; p.E335K; 6:108663836-108663836

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.861G>A; p.Q287Q; 6:108663694-108663694

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1215G>A; p.G405G; 6:108664048-108664048

 breastcarcinomaSubstitution - coding silent

c.948C>T; p.N316N; 6:108663781-108663781

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1103G>A; p.R368Q; 6:108663936-108663936

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.647T>A; p.L216Q; 6:108663480-108663480

 skin; earmalignant_melanomaSubstitution - Missense

c.1085G>T; p.C362F; 6:108663918-108663918

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1356A>G; p.Q452Q; 6:108664189-108664189

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1743A>G; p.Q581Q; 6:108664576-108664576

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.293C>G; p.A98G; 6:108561501-108561501

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1512_1513insC; p.S505fs*10; 6:108664345-108664346

 ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.1107G>T; p.L369L; 6:108663940-108663940

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1109C>A; p.T370N; 6:108663942-108663942

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.632G>A; p.R211Q; 6:108663465-108663465

 livercarcinomaSubstitution - Missense

c.1241T>A; p.F414Y; 6:108664074-108664074

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.632G>A; p.R211Q; 6:108663465-108663465

 livercarcinomaSubstitution - Missense

c.1233C>T; p.S411S; 6:108664066-108664066

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.952A>T; p.S318C; 6:108663785-108663785

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.790C>A; p.R264S; 6:108663623-108663623

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.803C>T; p.A268V; 6:108663636-108663636

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1230G>C; p.R410R; 6:108664063-108664063

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.159C>A; p.A53A; 6:108561367-108561367

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1274C>T; p.S425F; 6:108664107-108664107

 skinmalignant_melanomaSubstitution - Missense

c.1261delT; p.S421fs*20; 6:108664094-108664094

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1810C>A; p.H604N; 6:108664643-108664643

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1808G>A; p.G603D; 6:108664641-108664641

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1347G>T; p.Q449H; 6:108664180-108664180

 skinmalignant_melanomaSubstitution - Missense

c.1161G>T; p.M387I; 6:108663994-108663994

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1325C>T; p.S442F; 6:108664158-108664158

 skinmalignant_melanomaSubstitution - Missense

c.1325C>T; p.S442F; 6:108664158-108664158

 skinmalignant_melanomaSubstitution - Missense

c.1190C>G; p.P397R; 6:108664023-108664023

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1190C>G; p.P397R; 6:108664023-108664023

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.613G>A; p.G205S; 6:108561821-108561821

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.16G>T; p.A6S; 6:108561224-108561224

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1206G>A; p.S402S; 6:108664039-108664039

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1305C>T; p.F435F; 6:108664138-108664138

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1305C>T; p.F435F; 6:108664138-108664138

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1305C>T; p.F435F; 6:108664138-108664138

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1305C>T; p.F435F; 6:108664138-108664138

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1305C>T; p.F435F; 6:108664138-108664138

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1305C>T; p.F435F; 6:108664138-108664138

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1305C>T; p.F435F; 6:108664138-108664138

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1305C>T; p.F435F; 6:108664138-108664138

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1305C>T; p.F435F; 6:108664138-108664138

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

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