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

Basic Information

Gene ID

4804

Name

NGFR

Synonymous

nerve growth factor receptor;NGFR;nerve growth factor receptor

Definition

NGF receptor|TNFR superfamily, member 16|low affinity nerve growth factor receptor|low affinity neurotrophin receptor p75NTR|low-affinity nerve growth factor receptor|p75 ICD|tumor necrosis factor receptor superfamily member 16

Position

17q21-q22

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 0.08.

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.327C>T; p.C109C; 17:49506417-49506417

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1184G>A; p.S395N; 17:49512909-49512909

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1001G>A; p.G334D; 17:49512726-49512726

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.827A>G; p.N276S; 17:49511897-49511897

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.655C>T; p.P219S; 17:49510498-49510498

 skinmalignant_melanomaSubstitution - Missense

c.221C>G; p.S74C; 17:49506311-49506311

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.795C>T; p.G265G; 17:49510638-49510638

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.316G>A; p.V106M; 17:49506406-49506406

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.797T>G; p.L266R; 17:49510640-49510640

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.216G>A; p.T72T; 17:49506306-49506306

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.615G>A; p.S205S; 17:49510458-49510458

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.615G>A; p.S205S; 17:49510458-49510458

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1177C>A; p.Q393K; 17:49512902-49512902

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.605C>T; p.P202L; 17:49510448-49510448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1053C>G; p.L351L; 17:49512778-49512778

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.410C>T; p.S137F; 17:49506500-49506500

 skinmalignant_melanomaSubstitution - Missense

c.934C>T; p.Q312*; 17:49512004-49512004

 breastcarcinomaSubstitution - Nonsense

c.24C>T; p.R8R; 17:49495441-49495441

 kidneyother; neoplasmSubstitution - coding silent

c.377G>A; p.R126H; 17:49506467-49506467

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.895G>T; p.E299*; 17:49511965-49511965

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.626delC; p.S211fs*14; 17:49510469-49510469

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.933C>A; p.S311R; 17:49512003-49512003

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.196C>T; p.P66S; 17:49502192-49502192

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.185C>T; p.T62I; 17:49502181-49502181

 skinmalignant_melanomaSubstitution - Missense

c.1120G>T; p.D374Y; 17:49512845-49512845

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.649G>T; p.A217S; 17:49510492-49510492

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.73C>T; p.L25F; 17:49502069-49502069

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.402C>T; p.L134L; 17:49506492-49506492

 skinmalignant_melanomaSubstitution - coding silent

c.268G>A; p.V90M; 17:49506358-49506358

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.223G>A; p.D75N; 17:49506313-49506313

 skinmalignant_melanomaSubstitution - Missense

c.288G>A; p.S96S; 17:49506378-49506378

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.453C>T; p.D151D; 17:49506543-49506543

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1147G>A; p.V383I; 17:49512872-49512872

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.67G>A; p.V23M; 17:49502063-49502063

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.802G>A; p.A268T; 17:49510645-49510645

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1132C>A; p.H378N; 17:49512857-49512857

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.459G>A; p.T153T; 17:49506549-49506549

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.324C>A; p.R108R; 17:49506414-49506414

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1009A>G; p.S337G; 17:49512734-49512734

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.793G>T; p.G265C; 17:49510636-49510636

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.96C>A; p.C32*; 17:49502092-49502092

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.449C>A; p.P150H; 17:49506539-49506539

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.993T>C; p.G331G; 17:49512718-49512718

 pancreascarcinomaSubstitution - coding silent

c.219C>A; p.F73L; 17:49506309-49506309

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.962C>T; p.T321M; 17:49512032-49512032

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.262G>C; p.E88Q; 17:49506352-49506352

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.483G>A; p.V161V; 17:49506573-49506573

 thyroidcarcinomaSubstitution - coding silent

c.520G>A; p.E174K; 17:49506610-49506610

 skinmalignant_melanomaSubstitution - Missense

c.1124C>T; p.S375F; 17:49512849-49512849

 skinmalignant_melanomaSubstitution - Missense

c.1124C>T; p.S375F; 17:49512849-49512849

 skinmalignant_melanomaSubstitution - Missense

c.474C>A; p.A158A; 17:49506564-49506564

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.936G>C; p.Q312H; 17:49512006-49512006

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.215C>T; p.T72M; 17:49506305-49506305

 pancreascarcinomaSubstitution - Missense

c.120C>T; p.S40S; 17:49502116-49502116

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.640G>A; p.E214K; 17:49510483-49510483

 skinmalignant_melanomaSubstitution - Missense

c.1198G>A; p.A400T; 17:49512923-49512923

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.652C>A; p.P218T; 17:49510495-49510495

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.372G>A; p.A124A; 17:49506462-49506462

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.267C>T; p.C89C; 17:49506357-49506357

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.720G>A; p.Q240Q; 17:49510563-49510563

 skinmalignant_melanomaSubstitution - coding silent

c.552C>T; p.A184A; 17:49506642-49506642

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.267C>T; p.C89C; 17:49506357-49506357

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.294G>A; p.P98P; 17:49506384-49506384

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.821+1G>A; p.?; 17:49510665-49510665

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1063G>T; p.A355S; 17:49512788-49512788

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.477C>T; p.N159N; 17:49506567-49506567

 skinmalignant_melanomaSubstitution - coding silent

c.974C>T; p.S325L; 17:49512044-49512044

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.453C>A; p.D151E; 17:49506543-49506543

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.1245G>C; p.E415D; 17:49512970-49512970

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.181C>A; p.Q61K; 17:49502177-49502177

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1039G>C; p.V347L; 17:49512764-49512764

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.838C>A; p.Q280K; 17:49511908-49511908

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.367G>A; p.E123K; 17:49506457-49506457

 skinmalignant_melanomaSubstitution - Missense

c.1270A>T; p.T424S; 17:49512995-49512995

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.753C>T; p.L251L; 17:49510596-49510596

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1234G>A; p.D412N; 17:49512959-49512959

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1151G>A; p.R384H; 17:49512876-49512876

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.740C>A; p.T247N; 17:49510583-49510583

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.545G>A; p.R182H; 17:49506635-49506635

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1016T>C; p.L339P; 17:49512741-49512741

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1016T>C; p.L339P; 17:49512741-49512741

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.933C>T; p.S311S; 17:49512003-49512003

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.933C>T; p.S311S; 17:49512003-49512003

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.211G>A; p.V71M; 17:49506301-49506301

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1123T>C; p.S375P; 17:49512848-49512848

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.933C>T; p.S311S; 17:49512003-49512003

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.996C>T; p.D332D; 17:49512721-49512721

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1277C>T; p.P426L; 17:49513002-49513002

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.653C>A; p.P218H; 17:49510496-49510496

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.653C>A; p.P218H; 17:49510496-49510496

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.925G>A; p.V309M; 17:49511995-49511995

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.310G>A; p.D104N; 17:49506400-49506400

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.312C>T; p.D104D; 17:49506402-49506402

 stomachadenocarcinomaSubstitution - coding silent

c.411C>T; p.S137S; 17:49506501-49506501

 skinmalignant_melanomaSubstitution - coding silent

c.918C>T; p.G306G; 17:49511988-49511988

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.175G>T; p.A59S; 17:49502171-49502171

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.254C>T; p.P85L; 17:49506344-49506344

 skinmalignant_melanomaSubstitution - Missense

c.254C>T; p.P85L; 17:49506344-49506344

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.584G>T; p.W195L; 17:49510427-49510427

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

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