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

Basic Information

Gene ID

3394

Name

IRF8

Synonymous

interferon regulatory factor 8;IRF8;interferon regulatory factor 8

Definition

interferon consensus sequence binding protein 1

Position

16q24.1

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 0.04.

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.730C>A; p.P244T; 16:85918545-85918545

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1206C>G; p.V402V; 16:85921207-85921207

 breastcarcinomaSubstitution - coding silent

c.540G>A; p.Q180Q; 16:85913223-85913223

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1042C>T; p.L348L; 16:85920162-85920162

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.233G>A; p.W78*; 16:85909048-85909048

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.774C>T; p.I258I; 16:85918589-85918589

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.590C>A; p.A197E; 16:85914509-85914509

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.712G>A; p.G238S; 16:85918527-85918527

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.889G>A; p.V297M; 16:85918704-85918704

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.886C>T; p.R296C; 16:85918701-85918701

 skinmalignant_melanomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.96G>T; p.E32D; 16:85903111-85903111

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>C; p.E74D; 16:85909037-85909037

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.28C>A; p.L10I; 16:85903043-85903043

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.11G>A; p.R4Q; 16:85903026-85903026

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.650G>A; p.G217D; 16:85918465-85918465

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.81T>C; p.I27I; 16:85903096-85903096

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.504_505CT>TA; p.C169S; 16:85913187-85913188

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.966C>T; p.F322F; 16:85918781-85918781

 breastcarcinomaSubstitution - coding silent

c.1082G>A; p.R361H; 16:85920202-85920202

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.67T>C; p.Y23H; 16:85903082-85903082

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.67T>C; p.Y23H; 16:85903082-85903082

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1162G>T; p.G388C; 16:85921163-85921163

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.73_74GG>TT; p.G25L; 16:85903088-85903089

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.403G>A; p.E135K; 16:85911614-85911614

 skinmalignant_melanomaSubstitution - Missense

c.1019G>A; p.R340Q; 16:85920139-85920139

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.163T>G; p.S55A; 16:85903178-85903178

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1280A>T; p.*427L; 16:85921281-85921281

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaNonstop extension

c.882G>C; p.Q294H; 16:85918697-85918697

 pancreascarcinomaSubstitution - Missense

c.1064C>T; p.P355L; 16:85920184-85920184

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.319T>A; p.Y107N; 16:85909134-85909134

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.213C>A; p.D71E; 16:85909028-85909028

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.511A>T; p.S171C; 16:85913194-85913194

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.917G>A; p.C306Y; 16:85918732-85918732

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.759G>A; p.P253P; 16:85918574-85918574

 central_nervous_system; braingliomaSubstitution - coding silent

c.242G>A; p.R81K; 16:85909057-85909057

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.419G>T; p.R140L; 16:85911630-85911630

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.754T>C; p.F252L; 16:85918569-85918569

 breastcarcinomaSubstitution - Missense

c.591G>A; p.A197A; 16:85914510-85914510

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.41T>C; p.L14P; 16:85903056-85903056

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.736G>A; p.G246S; 16:85918551-85918551

 skinmalignant_melanomaSubstitution - Missense

c.1275C>T; p.T425T; 16:85921276-85921276

 thyroidother; neoplasmSubstitution - coding silent

c.33A>C; p.R11R; 16:85903048-85903048

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.900C>T; p.S300S; 16:85918715-85918715

 pancreascarcinomaSubstitution - coding silent

c.261T>G; p.N87K; 16:85909076-85909076

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.164C>A; p.S55Y; 16:85903179-85903179

 breastcarcinomaSubstitution - Missense

c.781G>A; p.E261K; 16:85918596-85918596

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.31C>T; p.R11*; 16:85903046-85903046

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.31C>T; p.R11*; 16:85903046-85903046

 breastcarcinomaSubstitution - Nonsense

c.375A>T; p.A125A; 16:85911586-85911586

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.559C>T; p.P187S; 16:85914478-85914478

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.387C>T; p.C129C; 16:85911598-85911598

 thyroidother; neoplasmSubstitution - coding silent

c.864C>T; p.F288F; 16:85918679-85918679

 skinmalignant_melanomaSubstitution - coding silent

c.1247C>T; p.S416L; 16:85921248-85921248

 skinmalignant_melanomaSubstitution - Missense

c.520C>T; p.L174F; 16:85913203-85913203

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.922G>A; p.G308S; 16:85918737-85918737

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.570G>A; p.T190T; 16:85914489-85914489

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.491C>T; p.S164F; 16:85913174-85913174

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.325G>A; p.V109I; 16:85909140-85909140

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.250T>C; p.C84R; 16:85909065-85909065

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1018C>T; p.R340W; 16:85920138-85920138

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.346G>A; p.E116K; 16:85909161-85909161

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.664A>C; p.T222P; 16:85918479-85918479

 bone; scapulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.589G>A; p.A197T; 16:85914508-85914508

 breastcarcinomaSubstitution - Missense

c.589G>A; p.A197T; 16:85914508-85914508

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.897C>T; p.C299C; 16:85918712-85918712

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1236A>G; p.S412S; 16:85921237-85921237

 thyroidother; neoplasmSubstitution - coding silent

c.340C>T; p.P114S; 16:85909155-85909155

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.289G>A; p.D97N; 16:85909104-85909104

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.756C>T; p.F252F; 16:85918571-85918571

 skinmalignant_melanomaSubstitution - coding silent

c.1259_1265delAAAACCA; p.E420fs*>5; 16:85921260-85921266

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.443A>G; p.K148R; 16:85911654-85911654

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1271T>C; p.I424T; 16:85921272-85921272

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.126C>T; p.H42H; 16:85903141-85903141

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.865G>A; p.V289I; 16:85918680-85918680

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.231T>G; p.T77T; 16:85909046-85909046

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.466A>G; p.M156V; 16:85913149-85913149

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.175-1G>A; p.?; 16:85908989-85908989

 skinmalignant_melanomaUnknown

c.134A>G; p.K45R; 16:85903149-85903149

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1219C>T; p.P407S; 16:85921220-85921220

 skinmalignant_melanomaSubstitution - Missense

c.291C>G; p.D97E; 16:85909106-85909106

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.42G>T; p.L14L; 16:85903057-85903057

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.561G>A; p.P187P; 16:85914480-85914480

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.561G>A; p.P187P; 16:85914480-85914480

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.193G>A; p.G65R; 16:85909008-85909008

 NSmalignant_melanomaSubstitution - Missense

c.193G>A; p.G65R; 16:85909008-85909008

 NSmalignant_melanomaSubstitution - Missense

c.1201C>T; p.Q401*; 16:85921202-85921202

 skinmalignant_melanomaSubstitution - Nonsense

c.803G>A; p.R268Q; 16:85918618-85918618

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.588C>T; p.D196D; 16:85914507-85914507

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.588C>T; p.D196D; 16:85914507-85914507

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.906C>T; p.N302N; 16:85918721-85918721

 central_nervous_system; braingliomaSubstitution - coding silent

c.332G>A; p.R111Q; 16:85909147-85909147

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.791G>T; p.R264M; 16:85918606-85918606

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.195G>A; p.G65G; 16:85909010-85909010

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1069A>G; p.M357V; 16:85920189-85920189

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.711C>G; p.P237P; 16:85918526-85918526

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.813C>T; p.F271F; 16:85918628-85918628

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.238A>G; p.T80A; 16:85909053-85909053

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.1254C>T; p.F418F; 16:85921255-85921255

 skinmalignant_melanomaSubstitution - coding silent

c.828C>T; p.R276R; 16:85918643-85918643

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.828C>T; p.R276R; 16:85918643-85918643

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.850C>T; p.R284W; 16:85918665-85918665

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.850C>T; p.R284W; 16:85918665-85918665

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.109C>T; p.R37W; 16:85903124-85903124

 skinmalignant_melanomaSubstitution - Missense

c.109C>T; p.R37W; 16:85903124-85903124

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.287C>T; p.T96M; 16:85909102-85909102

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.429C>T; p.I143I; 16:85911640-85911640

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.826C>A; p.R276S; 16:85918641-85918641

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1174C>T; p.Q392*; 16:85921175-85921175

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.1063C>T; p.P355S; 16:85920183-85920183

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.335T>G; p.I112S; 16:85909150-85909150

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1210C>T; p.R404W; 16:85921211-85921211

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1210C>T; p.R404W; 16:85921211-85921211

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1210C>T; p.R404W; 16:85921211-85921211

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1276_1279delGTCT; p.V426fs?; 16:85921277-85921280

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaDeletion - Frameshift

c.545C>A; p.P182H; 16:85913228-85913228

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.545C>A; p.P182H; 16:85913228-85913228

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.744G>A; p.E248E; 16:85918559-85918559

 skinmalignant_melanomaSubstitution - coding silent

c.101G>C; p.S34T; 16:85903116-85903116

 haematopoietic_and_lymphoid_tissue; tonsillymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.457G>A; p.D153N; 16:85913140-85913140

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.239C>T; p.T80M; 16:85909054-85909054

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.193G>T; p.G65W; 16:85909008-85909008

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.259A>T; p.N87Y; 16:85909074-85909074

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.259A>T; p.N87Y; 16:85909074-85909074

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.22C>A; p.R8R; 16:85903037-85903037

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.544C>T; p.P182S; 16:85913227-85913227

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.78G>A; p.L26L; 16:85903093-85903093

 skinmalignant_melanomaSubstitution - coding silent

c.23G>A; p.R8Q; 16:85903038-85903038

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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