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

Basic Information

Gene ID

4683

Name

NBN

Synonymous

nibrin;NBN;nibrin

Definition

Nijmegen breakage syndrome 1 (nibrin)|cell cycle regulatory protein p95|p95 protein of the MRE11/RAD50 complex

Position

8q21

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 0.18.

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.904C>A; p.L302I; 8:89964500-89964500

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1966T>C; p.L656L; 8:89946244-89946244

 thyroidcarcinomaSubstitution - coding silent

c.851A>G; p.D284G; 8:89970409-89970409

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1828G>A; p.E610K; 8:89953261-89953261

 breastcarcinomaSubstitution - Missense

c.850G>C; p.D284H; 8:89970410-89970410

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.557C>T; p.S186F; 8:89978247-89978247

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1036G>A; p.V346M; 8:89958813-89958813

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1681G>A; p.E561K; 8:89953408-89953408

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1932G>A; p.Q644Q; 8:89946278-89946278

 skinmalignant_melanomaSubstitution - coding silent

c.1253C>A; p.S418*; 8:89955427-89955427

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.102G>A; p.L34L; 8:89982791-89982791

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2134C>T; p.H712Y; 8:89943303-89943303

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.104T>C; p.I35T; 8:89982789-89982789

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.720C>T; p.S240S; 8:89970540-89970540

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.658C>G; p.Q220E; 8:89971217-89971217

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.948C>A; p.F316L; 8:89964456-89964456

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1165A>G; p.M389V; 8:89955515-89955515

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1296A>G; p.S432S; 8:89955384-89955384

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1296A>G; p.S432S; 8:89955384-89955384

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1296A>G; p.S432S; 8:89955384-89955384

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1844C>T; p.S615F; 8:89953245-89953245

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1844C>T; p.S615F; 8:89953245-89953245

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.204A>G; p.L68L; 8:89981491-89981491

 kidneyother; neoplasmSubstitution - coding silent

c.2141G>T; p.R714L; 8:89943296-89943296

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1915-7A>G; p.?; 8:89946302-89946302

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1709C>G; p.T570R; 8:89953380-89953380

 livercarcinomaSubstitution - Missense

c.325G>A; p.E109K; 8:89980889-89980889

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1709C>G; p.T570R; 8:89953380-89953380

 livercarcinomaSubstitution - Missense

c.373_378>C; p.K125fs*34; 8:89980836-89980841

 kidneycarcinoma; clear_cell_renal_cell_carcinomaComplex - frameshift

c.705T>G; p.H235Q; 8:89970555-89970555

 livercarcinomaSubstitution - Missense

c.705T>G; p.H235Q; 8:89970555-89970555

 livercarcinomaSubstitution - Missense

c.308delG; p.G103fs*6; 8:89981387-89981387

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.366C>G; p.V122V; 8:89980848-89980848

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.645G>A; p.R215R; 8:89971230-89971230

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1914+1G>A; p.?; 8:89947823-89947823

 livercarcinomaUnknown

c.516A>G; p.V172V; 8:89978288-89978288

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1340C>A; p.S447Y; 8:89955340-89955340

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.22G>A; p.A8T; 8:89984540-89984540

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.657A>T; p.K219N; 8:89971218-89971218

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1398-10T>A; p.?; 8:89953701-89953701

 pancreascarcinomaUnknown

c.503G>T; p.G168V; 8:89978301-89978301

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.814G>A; p.D272N; 8:89970446-89970446

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1454C>T; p.T485M; 8:89953635-89953635

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1992T>G; p.I664M; 8:89946218-89946218

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1471G>T; p.E491*; 8:89953618-89953618

 skin; extremitymalignant_melanomaSubstitution - Nonsense

c.1535A>G; p.E512G; 8:89953554-89953554

 lungcarcinoma; undifferentiated_carcinomaSubstitution - Missense

c.16C>T; p.P6S; 8:89984546-89984546

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.896_896+1GG>AA; p.?; 8:89970363-89970364

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.2062T>G; p.F688V; 8:89946148-89946148

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1010C>T; p.T337I; 8:89958839-89958839

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1915-1G>A; p.?; 8:89946296-89946296

 kidneyother; neoplasmUnknown

c.965A>G; p.Y322C; 8:89964439-89964439

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.653G>T; p.R218I; 8:89971222-89971222

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1115C>T; p.A372V; 8:89958734-89958734

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.2025A>G; p.I675M; 8:89946185-89946185

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.803C>T; p.T268M; 8:89970457-89970457

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1959G>T; p.K653N; 8:89946251-89946251

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1982C>A; p.S661*; 8:89946228-89946228

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.459A>G; p.V153V; 8:89980755-89980755

 livercarcinomaSubstitution - coding silent

c.459A>G; p.V153V; 8:89980755-89980755

 livercarcinomaSubstitution - coding silent

c.404T>C; p.L135P; 8:89980810-89980810

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1147G>T; p.E383*; 8:89955533-89955533

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1464T>G; p.S488S; 8:89953625-89953625

 livercarcinomaSubstitution - coding silent

c.940G>A; p.V314M; 8:89964464-89964464

 bone; humerusEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1689G>T; p.L563F; 8:89953400-89953400

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1398-10delT; p.?; 8:89953701-89953701

 oesophaguscarcinoma; adenocarcinomaUnknown

c.1197T>C; p.D399D; 8:89955483-89955483

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.891C>T; p.L297L; 8:89970369-89970369

 skinmalignant_melanomaSubstitution - coding silent

c.1618C>A; p.H540N; 8:89953471-89953471

 breastcarcinomaSubstitution - Missense

c.1458T>C; p.S486S; 8:89953631-89953631

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1577C>T; p.T526I; 8:89953512-89953512

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1911A>G; p.I637M; 8:89947827-89947827

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1577C>T; p.T526I; 8:89953512-89953512

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2128G>T; p.A710S; 8:89943309-89943309

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2128G>T; p.A710S; 8:89943309-89943309

 large_intestine; coloncarcinomaSubstitution - Missense

c.2128G>T; p.A710S; 8:89943309-89943309

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1396delA; p.R466fs*18; 8:89955284-89955284

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1396delA; p.R466fs*18; 8:89955284-89955284

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1396delA; p.R466fs*18; 8:89955284-89955284

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1396delA; p.R466fs*18; 8:89955284-89955284

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1396delA; p.R466fs*18; 8:89955284-89955284

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1396delA; p.R466fs*18; 8:89955284-89955284

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1396delA; p.R466fs*18; 8:89955284-89955284

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1396delA; p.R466fs*18; 8:89955284-89955284

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.541C>A; p.L181M; 8:89978263-89978263

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1936G>T; p.D646Y; 8:89946274-89946274

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.666C>T; p.F222F; 8:89971209-89971209

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.964T>C; p.Y322H; 8:89964440-89964440

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1651delA; p.R551fs*8; 8:89953438-89953438

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2035T>C; p.Y679H; 8:89946175-89946175

 kidneycarcinomaSubstitution - Missense

c.1651delA; p.R551fs*8; 8:89953438-89953438

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.1651delA; p.R551fs*8; 8:89953438-89953438

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1497A>G; p.S499S; 8:89953592-89953592

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2209G>C; p.E737Q; 8:89937051-89937051

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.360_361AG>GA; p.D121N; 8:89980853-89980854

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.50G>C; p.R17T; 8:89982843-89982843

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.585T>A; p.S195R; 8:89971290-89971290

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.2192delA; p.N731fs*20; 8:89937068-89937068

 kidneycarcinomaDeletion - Frameshift

c.128G>A; p.R43Q; 8:89982765-89982765

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1870C>T; p.R624C; 8:89947868-89947868

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1253C>G; p.S418*; 8:89955427-89955427

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.128G>A; p.R43Q; 8:89982765-89982765

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1253C>G; p.S418*; 8:89955427-89955427

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.128G>A; p.R43Q; 8:89982765-89982765

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1089C>T; p.Y363Y; 8:89958760-89958760

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1089C>T; p.Y363Y; 8:89958760-89958760

 prostatecarcinomaSubstitution - coding silent

c.1131G>C; p.L377F; 8:89955549-89955549

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.979G>T; p.G327C; 8:89964425-89964425

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.252G>T; p.Q84H; 8:89981443-89981443

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1398-1G>A; p.?; 8:89953692-89953692

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1294T>C; p.S432P; 8:89955386-89955386

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2053T>G; p.F685V; 8:89946157-89946157

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1013C>T; p.P338L; 8:89958836-89958836

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1066G>A; p.A356T; 8:89958783-89958783

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1390A>G; p.K464E; 8:89955290-89955290

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2006C>T; p.S669F; 8:89946204-89946204

 skinmalignant_melanomaSubstitution - Missense

c.1855G>A; p.E619K; 8:89947883-89947883

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1980A>G; p.R660R; 8:89946230-89946230

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.266G>A; p.R89Q; 8:89981429-89981429

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.107A>C; p.E36A; 8:89982786-89982786

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.425A>G; p.N142S; 8:89980789-89980789

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2184+6T>C; p.?; 8:89943247-89943247

 urinary_tract; bladdercarcinomaUnknown

c.123C>T; p.I41I; 8:89982770-89982770

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1065C>T; p.S355S; 8:89958784-89958784

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1060C>T; p.P354S; 8:89958789-89958789

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1618C>T; p.H540Y; 8:89953471-89953471

 breastcarcinomaSubstitution - Missense

c.1618C>T; p.H540Y; 8:89953471-89953471

 skinmalignant_melanomaSubstitution - Missense

c.1786G>A; p.D596N; 8:89953303-89953303

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.690G>T; p.L230F; 8:89971185-89971185

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.553G>C; p.E185Q; 8:89978251-89978251

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.553G>C; p.E185Q; 8:89978251-89978251

 thyroidother; neoplasmSubstitution - Missense

c.504A>G; p.G168G; 8:89978300-89978300

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.504A>G; p.G168G; 8:89978300-89978300

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.504A>G; p.G168G; 8:89978300-89978300

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.504A>G; p.G168G; 8:89978300-89978300

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.654_658delAAAAC; p.K219fs*16; 8:89971217-89971221

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaDeletion - Frameshift

c.1052A>G; p.K351R; 8:89958797-89958797

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1906G>T; p.E636*; 8:89947832-89947832

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2185G>C; p.V729L; 8:89937075-89937075

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1087T>C; p.Y363H; 8:89958762-89958762

 pancreascarcinomaSubstitution - Missense

c.1087T>C; p.Y363H; 8:89958762-89958762

 pancreascarcinomaSubstitution - Missense

c.2219C>T; p.A740V; 8:89937041-89937041

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1087T>C; p.Y363H; 8:89958762-89958762

 pancreascarcinomaSubstitution - Missense

c.2196A>G; p.Q732Q; 8:89937064-89937064

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.638C>T; p.S213L; 8:89971237-89971237

 breastcarcinomaSubstitution - Missense

c.2016A>G; p.P672P; 8:89946194-89946194

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.580G>A; p.E194K; 8:89978224-89978224

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2016A>G; p.P672P; 8:89946194-89946194

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2184G>A; p.E728E; 8:89943253-89943253

 livercarcinomaSubstitution - coding silent

c.2184G>A; p.E728E; 8:89943253-89943253

 livercarcinomaSubstitution - coding silent

c.244A>G; p.K82E; 8:89981451-89981451

 prostateadenomaSubstitution - Missense

c.392C>A; p.A131D; 8:89980822-89980822

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2052T>A; p.N684K; 8:89946158-89946158

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.671G>C; p.G224A; 8:89971204-89971204

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.671G>C; p.G224A; 8:89971204-89971204

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.393T>C; p.A131A; 8:89980821-89980821

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1160C>T; p.S387F; 8:89955520-89955520

 skinmalignant_melanomaSubstitution - Missense

c.724G>C; p.V242L; 8:89970536-89970536

 livercarcinomaSubstitution - Missense

c.724G>C; p.V242L; 8:89970536-89970536

 livercarcinomaSubstitution - Missense

c.1958_1959insA; p.L654fs*5; 8:89946251-89946252

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.162A>T; p.V54V; 8:89982731-89982731

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1469delT; p.L490fs*1; 8:89953620-89953620

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1999T>C; p.S667P; 8:89946211-89946211

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1627G>A; p.E543K; 8:89953462-89953462

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.553G>T; p.E185*; 8:89978251-89978251

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

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