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

Basic Information

Gene ID

57142

Name

RTN4

Synonymous

reticulon 4;RTN4;reticulon 4

Definition

Human NogoA|My043 protein|foocen|neurite growth inhibitor 220|neurite outgrowth inhibitor|neuroendocrine-specific protein C homolog|reticulon 5|reticulon-4

Position

2p16.3

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 0.22.

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.2601C>T; p.F867F; 2:54987493-54987493

 breastcarcinomaSubstitution - coding silent

c.95T>C; p.L32P; 2:55027386-55027386

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2865G>A; p.Q955Q; 2:54973616-54973616

 livercarcinomaSubstitution - coding silent

c.556C>A; p.R186R; 2:55026925-55026925

 livercarcinomaSubstitution - coding silent

c.556C>A; p.R186R; 2:55026925-55026925

 livercarcinomaSubstitution - coding silent

c.638A>C; p.K213T; 2:55026843-55026843

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.556C>A; p.R186R; 2:55026925-55026925

 livercarcinomaSubstitution - coding silent

c.2180G>C; p.S727T; 2:55025301-55025301

 breastcarcinomaSubstitution - Missense

c.1925C>G; p.S642C; 2:55025556-55025556

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1676T>G; p.M559R; 2:55025805-55025805

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.832G>T; p.G278*; 2:55026649-55026649

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2283A>G; p.I761M; 2:55025198-55025198

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2124A>G; p.E708E; 2:55025357-55025357

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1751C>T; p.A584V; 2:55025730-55025730

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2430G>T; p.K810N; 2:54987664-54987664

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1521G>A; p.P507P; 2:55025960-55025960

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1546G>A; p.A516T; 2:55025935-55025935

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1342G>A; p.E448K; 2:55026139-55026139

 breastcarcinomaSubstitution - Missense

c.1230G>A; p.M410I; 2:55026251-55026251

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1652C>T; p.P551L; 2:55025829-55025829

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2083G>T; p.A695S; 2:55025398-55025398

 breastcarcinomaSubstitution - Missense

c.1104A>T; p.E368D; 2:55026377-55026377

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.116C>A; p.S39Y; 2:55027365-55027365

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1956G>A; p.T652T; 2:55025525-55025525

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.94C>T; p.L32L; 2:55027387-55027387

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1006G>A; p.V336I; 2:55026475-55026475

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.83C>G; p.S28C; 2:55027398-55027398

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.193G>C; p.E65Q; 2:55027288-55027288

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1086T>C; p.G362G; 2:55026395-55026395

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.667C>G; p.L223V; 2:55026814-55026814

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.823C>T; p.P275S; 2:55026658-55026658

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2855A>G; p.H952R; 2:54973825-54973825

 pancreascarcinomaSubstitution - Missense

c.2191G>T; p.D731Y; 2:55025290-55025290

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2584G>T; p.D862Y; 2:54987510-54987510

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.9G>A; p.L3L; 2:55027472-55027472

 prostatecarcinomaSubstitution - coding silent

c.195A>G; p.E65E; 2:55027286-55027286

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2741A>C; p.K914T; 2:54982516-54982516

 breastcarcinomaSubstitution - Missense

c.207G>C; p.E69D; 2:55027274-55027274

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1687G>T; p.E563*; 2:55025794-55025794

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1782G>T; p.L594F; 2:55025699-55025699

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2175A>C; p.K725N; 2:55025306-55025306

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1891A>G; p.T631A; 2:55025590-55025590

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2851C>T; p.R951W; 2:54973829-54973829

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2330C>A; p.S777Y; 2:55025151-55025151

 breastcarcinomaSubstitution - Missense

c.2678T>G; p.V893G; 2:54982579-54982579

 breastcarcinomaSubstitution - Missense

c.643G>C; p.D215H; 2:55026838-55026838

 breastcarcinomaSubstitution - Missense

c.785A>C; p.N262T; 2:55026696-55026696

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2419G>T; p.D807Y; 2:54987675-54987675

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.958G>T; p.E320*; 2:55026523-55026523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2396-2A>T; p.?; 2:54987700-54987700

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.2396-2A>T; p.?; 2:54987700-54987700

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1926T>C; p.S642S; 2:55025555-55025555

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1926T>C; p.S642S; 2:55025555-55025555

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2603+9T>G; p.?; 2:54987482-54987482

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1160C>A; p.A387E; 2:55026321-55026321

 breastcarcinomaSubstitution - Missense

c.2531_2532delTG; p.V844fs*5; 2:54987562-54987563

 breastcarcinomaDeletion - Frameshift

c.979G>A; p.D327N; 2:55026502-55026502

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.799G>A; p.E267K; 2:55026682-55026682

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2093C>G; p.P698R; 2:55025388-55025388

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.191_196delGTGAAG; p.S64_A66>T; 2:55027285-55027290

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaComplex - deletion inframe

c.1912G>T; p.D638Y; 2:55025569-55025569

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.287C>G; p.S96*; 2:55027194-55027194

 NSNSSubstitution - Nonsense

c.859G>A; p.D287N; 2:55026622-55026622

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1016A>C; p.N339T; 2:55026465-55026465

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1389_1390insA; p.V464fs*9; 2:55026091-55026092

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1461T>G; p.P487P; 2:55026020-55026020

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.570G>T; p.V190V; 2:55026911-55026911

 livercarcinomaSubstitution - coding silent

c.570G>T; p.V190V; 2:55026911-55026911

 livercarcinomaSubstitution - coding silent

c.570G>T; p.V190V; 2:55026911-55026911

 livercarcinomaSubstitution - coding silent

c.2274delA; p.I758fs*4; 2:55025207-55025207

 stomachcarcinoma; diffuse_adenocarcinomaDeletion - Frameshift

c.2184C>A; p.F728L; 2:55025297-55025297

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.970G>C; p.V324L; 2:55026511-55026511

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.334A>C; p.N112H; 2:55027147-55027147

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.628T>G; p.L210V; 2:55026853-55026853

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.338C>T; p.P113L; 2:55027143-55027143

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2536A>G; p.I846V; 2:54987558-54987558

 livercarcinomaSubstitution - Missense

c.2867T>A; p.I956K; 2:54973614-54973614

 skinmalignant_melanomaSubstitution - Missense

c.2848G>C; p.E950Q; 2:54973832-54973832

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.35C>T; p.S12L; 2:55027446-55027446

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1622T>C; p.L541S; 2:55025859-55025859

 skin; trunkmalignant_melanomaSubstitution - Missense

c.2705G>A; p.R902H; 2:54982552-54982552

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2395G>A; p.V799I; 2:55025086-55025086

 skinmalignant_melanomaSubstitution - Missense

c.2848G>C; p.E950Q; 2:54973832-54973832

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.2705G>A; p.R902H; 2:54982552-54982552

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.956C>T; p.S319F; 2:55026525-55026525

 breastcarcinomaSubstitution - Missense

c.2122G>T; p.E708*; 2:55025359-55025359

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.436A>C; p.K146Q; 2:55027045-55027045

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.452A>T; p.D151V; 2:55027029-55027029

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.452A>T; p.D151V; 2:55027029-55027029

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.452A>T; p.D151V; 2:55027029-55027029

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2867T>C; p.I956T; 2:54973614-54973614

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.871delA; p.I291fs*1; 2:55026610-55026610

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.871delA; p.I291fs*1; 2:55026610-55026610

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.871delA; p.I291fs*1; 2:55026610-55026610

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.871delA; p.I291fs*1; 2:55026610-55026610

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.871delA; p.I291fs*1; 2:55026610-55026610

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.871delA; p.I291fs*1; 2:55026610-55026610

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1898T>C; p.V633A; 2:55025583-55025583

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2533A>G; p.T845A; 2:54987561-54987561

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1632T>C; p.D544D; 2:55025849-55025849

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1409A>C; p.E470A; 2:55026072-55026072

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1227T>C; p.V409V; 2:55026254-55026254

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2817C>T; p.L939L; 2:54973863-54973863

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1860G>T; p.E620D; 2:55025621-55025621

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.517C>G; p.P173A; 2:55026964-55026964

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2396-2A>G; p.?; 2:54987700-54987700

 ovarycarcinoma; serous_carcinomaUnknown

c.2332G>A; p.D778N; 2:55025149-55025149

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1472T>C; p.I491T; 2:55026009-55026009

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.901G>A; p.E301K; 2:55026580-55026580

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1103A>C; p.E368A; 2:55026378-55026378

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2067C>T; p.S689S; 2:55025414-55025414

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.240_243delTAGA; p.D80fs*3; 2:55027238-55027241

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.668T>C; p.L223P; 2:55026813-55026813

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2271G>A; p.E757E; 2:55025210-55025210

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1075G>T; p.E359*; 2:55026406-55026406

 bone; pelvischondrosarcomaSubstitution - Nonsense

c.2743-1G>T; p.?; 2:54974765-54974765

 ovaryother; neoplasmUnknown

c.2743-1G>T; p.?; 2:54974765-54974765

 ovaryother; neoplasmUnknown

c.893T>C; p.I298T; 2:55026588-55026588

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.435T>C; p.T145T; 2:55027046-55027046

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2158C>T; p.P720S; 2:55025323-55025323

 pancreascarcinomaSubstitution - Missense

c.124G>T; p.E42*; 2:55027357-55027357

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.651delA; p.K217fs*32; 2:55026830-55026830

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2837C>T; p.P946L; 2:54973843-54973843

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1829C>A; p.P610H; 2:55025652-55025652

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.2772T>C; p.Y924Y; 2:54974735-54974735

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.520A>G; p.M174V; 2:55026961-55026961

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1389delA; p.V464fs*4; 2:55026092-55026092

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1389delA; p.V464fs*4; 2:55026092-55026092

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1389delA; p.V464fs*4; 2:55026092-55026092

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.111C>T; p.A37A; 2:55027370-55027370

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.1389delA; p.V464fs*4; 2:55026092-55026092

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.25A>C; p.N9H; 2:55027456-55027456

 NSmalignant_melanomaSubstitution - Missense

c.1586T>C; p.V529A; 2:55025895-55025895

 livercarcinomaSubstitution - Missense

c.1586T>C; p.V529A; 2:55025895-55025895

 livercarcinomaSubstitution - Missense

c.2229C>G; p.L743L; 2:55025252-55025252

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.556C>T; p.R186*; 2:55026925-55026925

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2592C>T; p.G864G; 2:54987502-54987502

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2592C>T; p.G864G; 2:54987502-54987502

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1390G>A; p.V464I; 2:55026091-55026091

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2592C>T; p.G864G; 2:54987502-54987502

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.154G>A; p.V52I; 2:55027327-55027327

 skinmalignant_melanomaSubstitution - Missense

c.313G>T; p.E105*; 2:55027168-55027168

 ovaryother; neoplasmSubstitution - Nonsense

c.1925C>A; p.S642Y; 2:55025556-55025556

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.313G>T; p.E105*; 2:55027168-55027168

 ovaryother; neoplasmSubstitution - Nonsense

c.1925C>A; p.S642Y; 2:55025556-55025556

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2474T>C; p.L825S; 2:54987620-54987620

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2474T>C; p.L825S; 2:54987620-54987620

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1032G>C; p.L344L; 2:55026449-55026449

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.871_872insA; p.I291fs*15; 2:55026609-55026610

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1787C>A; p.S596Y; 2:55025694-55025694

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1648G>A; p.V550I; 2:55025833-55025833

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2723A>G; p.D908G; 2:54982534-54982534

 livercarcinomaSubstitution - Missense

c.779C>T; p.P260L; 2:55026702-55026702

 skinmalignant_melanomaSubstitution - Missense

c.779C>T; p.P260L; 2:55026702-55026702

 skinmalignant_melanomaSubstitution - Missense

c.1415_1429del15; p.K472_N476delKEPEN; 2:55026052-55026066

 soft_tissue; blood_vesselangiosarcomaDeletion - In frame

c.1492G>T; p.E498*; 2:55025989-55025989

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1492G>T; p.E498*; 2:55025989-55025989

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1492G>T; p.E498*; 2:55025989-55025989

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

')