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

Basic Information

Gene ID

8744

Name

TNFSF9

Synonymous

tumor necrosis factor (ligand) superfamily, member 9;TNFSF9;tumor necrosis factor (ligand) superfamily, member 9

Definition

4-1BB ligand|4-1BBL|homolog of mouse 4-1BB-L|receptor 4-1BB ligand|tumor necrosis factor ligand superfamily member 9

Position

19p13.3

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 0.12.

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.727G>A; p.E243K; 19:6535028-6535028

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.316C>T; p.P106S; 19:6534617-6534617

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.715C>T; p.R239W; 19:6535016-6535016

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.347C>T; p.A116V; 19:6534648-6534648

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.642C>T; p.V214V; 19:6534943-6534943

 skinmalignant_melanomaSubstitution - coding silent

c.716G>A; p.R239Q; 19:6535017-6535017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.512G>A; p.R171H; 19:6534813-6534813

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.504G>T; p.Q168H; 19:6534805-6534805

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.504G>T; p.Q168H; 19:6534805-6534805

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.504G>T; p.Q168H; 19:6534805-6534805

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.504G>T; p.Q168H; 19:6534805-6534805

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.562G>A; p.A188T; 19:6534863-6534863

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.591C>G; p.F197L; 19:6534892-6534892

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.711C>T; p.L237L; 19:6535012-6535012

 livercarcinomaSubstitution - coding silent

c.745C>T; p.P249S; 19:6535046-6535046

 skinmalignant_melanomaSubstitution - Missense

c.745C>T; p.P249S; 19:6535046-6535046

 skinmalignant_melanomaSubstitution - Missense

c.669C>A; p.R223R; 19:6534970-6534970

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.669C>A; p.R223R; 19:6534970-6534970

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.727G>C; p.E243Q; 19:6535028-6535028

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.150C>A; p.A50A; 19:6531186-6531186

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.752C>T; p.P251L; 19:6535053-6535053

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.71G>A; p.C24Y; 19:6531107-6531107

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.739G>T; p.G247*; 19:6535040-6535040

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.591C>T; p.F197F; 19:6534892-6534892

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.343C>A; p.L115M; 19:6534644-6534644

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.521C>A; p.A174D; 19:6534822-6534822

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.759G>A; p.S253S; 19:6535060-6535060

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.759G>A; p.S253S; 19:6535060-6535060

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.3G>A; p.M1I; 19:6531039-6531039

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.732C>T; p.I244I; 19:6535033-6535033

 skinmalignant_melanomaSubstitution - coding silent

c.310G>C; p.D104H; 19:6534611-6534611

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.690G>A; p.Q230Q; 19:6534991-6534991

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.390G>A; p.T130T; 19:6534691-6534691

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.638G>A; p.G213D; 19:6534939-6534939

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.400G>A; p.V134M; 19:6534701-6534701

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.102_107delGCTGCT; p.L40_L41delLL; 19:6531138-6531143

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaDeletion - In frame

c.58C>T; p.R20C; 19:6531094-6531094

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.389C>T; p.T130M; 19:6534690-6534690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.18C>T; p.D6D; 19:6531054-6531054

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.578G>A; p.R193Q; 19:6534879-6534879

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.357C>T; p.S119S; 19:6534658-6534658

 skinmalignant_melanomaSubstitution - coding silent

c.123C>T; p.L41L; 19:6531159-6531159

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.418G>A; p.V140I; 19:6534719-6534719

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.694G>A; p.A232T; 19:6534995-6534995

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.694G>A; p.A232T; 19:6534995-6534995

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.451C>T; p.R151C; 19:6534752-6534752

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.363delG; p.G123fs*2; 19:6534664-6534664

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.370C>G; p.L124V; 19:6534671-6534671

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.693C>T; p.G231G; 19:6534994-6534994

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.693C>T; p.G231G; 19:6534994-6534994

 prostatecarcinomaSubstitution - coding silent

c.267+2T>C; p.?; 19:6531305-6531305

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.426delT; p.Y142fs*1; 19:6534727-6534727

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.591C>A; p.F197L; 19:6534892-6534892

 livercarcinomaSubstitution - Missense

c.23C>T; p.S8L; 19:6531059-6531059

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.591C>A; p.F197L; 19:6534892-6534892

 livercarcinomaSubstitution - Missense

c.624C>T; p.A208A; 19:6534925-6534925

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.102_104delGCT; p.L41delL; 19:6531138-6531140

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.102_104delGCT; p.L41delL; 19:6531138-6531140

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.102_104delGCT; p.L41delL; 19:6531138-6531140

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaDeletion - In frame

')