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

Basic Information

Gene ID

222235

Name

FBXL13

Synonymous

F-box and leucine-rich repeat protein 13;FBXL13;F-box and leucine-rich repeat protein 13

Definition

F-box/LRR-repeat protein 13

Position

7q22.1

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 0.15.

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.1386A>C; p.V462V; 7:102883307-102883307

 livercarcinomaSubstitution - coding silent

c.359G>A; p.W120*; 7:103025199-103025199

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1386A>C; p.V462V; 7:102883307-102883307

 livercarcinomaSubstitution - coding silent

c.944A>C; p.Q315P; 7:102913150-102913150

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2138C>G; p.T713R; 7:102813412-102813412

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1614T>C; p.S538S; 7:102877488-102877488

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.8C>T; p.P3L; 7:103029411-103029411

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.7C>T; p.P3S; 7:103029412-103029412

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2018A>G; p.K673R; 7:102822040-102822040

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.570A>G; p.Q190Q; 7:102968043-102968043

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.865C>T; p.R289*; 7:102926287-102926287

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2150_2175del26; p.G717fs*6; 7:102813375-102813400

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1507C>T; p.R503C; 7:102878332-102878332

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1771T>C; p.S591P; 7:102832923-102832923

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.685C>T; p.R229C; 7:102963572-102963572

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1571G>A; p.G524E; 7:102877531-102877531

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.307A>G; p.K103E; 7:103027469-103027469

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1494G>A; p.M498I; 7:102878345-102878345

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1494G>A; p.M498I; 7:102878345-102878345

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1177A>G; p.T393A; 7:102883616-102883616

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.111G>A; p.L37L; 7:103028706-103028706

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2207G>C; p.*736S; 7:102813343-102813343

 breastcarcinomaNonstop extension

c.1441A>T; p.I481L; 7:102878398-102878398

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1884G>A; p.S628S; 7:102822174-102822174

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2112C>T; p.N704N; 7:102813438-102813438

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.716G>A; p.R239K; 7:102963541-102963541

 breastcarcinomaSubstitution - Missense

c.658C>T; p.R220C; 7:102963599-102963599

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2140T>A; p.S714T; 7:102813410-102813410

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.674G>A; p.R225H; 7:102963583-102963583

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.223C>A; p.L75I; 7:103027553-103027553

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.223C>A; p.L75I; 7:103027553-103027553

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.1326C>T; p.S442S; 7:102883367-102883367

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.223C>A; p.L75I; 7:103027553-103027553

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.728A>G; p.H243R; 7:102931930-102931930

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.357_358insA; p.W120fs*4; 7:103025200-103025201

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1967G>T; p.G656V; 7:102822091-102822091

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.357_358insA; p.W120fs*4; 7:103025200-103025201

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1868C>T; p.A623V; 7:102822190-102822190

 oesophaguscarcinomaSubstitution - Missense

c.349T>C; p.L117L; 7:103025209-103025209

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1538G>A; p.R513Q; 7:102877564-102877564

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1538G>A; p.R513Q; 7:102877564-102877564

 skinmalignant_melanomaSubstitution - Missense

c.1538G>A; p.R513Q; 7:102877564-102877564

 skinmalignant_melanomaSubstitution - Missense

c.1272T>G; p.N424K; 7:102883421-102883421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1653C>A; p.S551S; 7:102854843-102854843

 skinmalignant_melanomaSubstitution - coding silent

c.1217G>A; p.R406Q; 7:102883576-102883576

 skinmalignant_melanomaSubstitution - Missense

c.1587C>A; p.I529I; 7:102877515-102877515

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.637G>A; p.V213M; 7:102963620-102963620

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.88C>T; p.R30C; 7:103028729-103028729

 skinmalignant_melanomaSubstitution - Missense

c.1982G>A; p.R661Q; 7:102822076-102822076

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1195G>C; p.A399P; 7:102883598-102883598

 breastcarcinomaSubstitution - Missense

c.603C>T; p.S201S; 7:102963654-102963654

 skinmalignant_melanomaSubstitution - coding silent

c.574A>T; p.N192Y; 7:102968039-102968039

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1139C>T; p.S380L; 7:102883654-102883654

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.270C>T; p.I90I; 7:103027506-103027506

 livercarcinomaSubstitution - coding silent

c.270C>T; p.I90I; 7:103027506-103027506

 livercarcinomaSubstitution - coding silent

c.1537C>T; p.R513*; 7:102877565-102877565

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1537C>T; p.R513*; 7:102877565-102877565

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1537C>T; p.R513*; 7:102877565-102877565

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.291A>G; p.T97T; 7:103027485-103027485

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1537C>T; p.R513*; 7:102877565-102877565

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.875C>T; p.P292L; 7:102926277-102926277

 skin; trunkmalignant_melanomaSubstitution - Missense

c.445G>A; p.E149K; 7:103025113-103025113

 breastcarcinomaSubstitution - Missense

c.445G>A; p.E149K; 7:103025113-103025113

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.118A>T; p.K40*; 7:103028699-103028699

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1440G>A; p.R480R; 7:102878399-102878399

 skinmalignant_melanomaSubstitution - coding silent

c.745G>C; p.E249Q; 7:102931913-102931913

 breastcarcinomaSubstitution - Missense

c.845C>A; p.T282N; 7:102926307-102926307

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1928T>A; p.V643D; 7:102822130-102822130

 livercarcinomaSubstitution - Missense

c.1928T>A; p.V643D; 7:102822130-102822130

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2083C>T; p.R695C; 7:102813467-102813467

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.212T>G; p.L71R; 7:103028605-103028605

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1692T>G; p.C564W; 7:102854804-102854804

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1625T>G; p.I542S; 7:102877477-102877477

 kidneyother; neoplasmSubstitution - Missense

c.426T>A; p.S142S; 7:103025132-103025132

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.925T>C; p.F309L; 7:102913169-102913169

 skinmalignant_melanomaSubstitution - Missense

c.218-1G>C; p.?; 7:103027559-103027559

 ovaryother; neoplasmUnknown

c.218-1G>C; p.?; 7:103027559-103027559

 ovaryother; neoplasmUnknown

c.1447G>T; p.E483*; 7:102878392-102878392

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.578C>T; p.S193L; 7:102968035-102968035

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1497A>C; p.K499N; 7:102878342-102878342

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1961_1962AG>CA; p.Q654P; 7:102822096-102822097

 skinmalignant_melanomaSubstitution - Missense

c.402C>T; p.S134S; 7:103025156-103025156

 skinmalignant_melanomaSubstitution - coding silent

c.1720-5delT; p.?; 7:102832979-102832979

 stomachadenocarcinomaUnknown

c.673C>T; p.R225C; 7:102963584-102963584

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.9G>A; p.P3P; 7:103029410-103029410

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1445G>C; p.R482T; 7:102878394-102878394

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1534T>G; p.L512V; 7:102877568-102877568

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.515T>G; p.L172*; 7:102968098-102968098

 skin; trunkmalignant_melanoma; nodularSubstitution - Nonsense

c.1653C>T; p.S551S; 7:102854843-102854843

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2194G>A; p.D732N; 7:102813356-102813356

 skinmalignant_melanomaSubstitution - Missense

c.678G>A; p.L226L; 7:102963579-102963579

 skinmalignant_melanomaSubstitution - coding silent

c.496-2A>T; p.?; 7:102968119-102968119

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.787A>G; p.M263V; 7:102926365-102926365

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.496-2A>T; p.?; 7:102968119-102968119

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.866G>A; p.R289Q; 7:102926286-102926286

 NSmalignant_melanomaSubstitution - Missense

c.866G>A; p.R289Q; 7:102926286-102926286

 NSmalignant_melanomaSubstitution - Missense

c.866G>A; p.R289Q; 7:102926286-102926286

 skinmalignant_melanomaSubstitution - Missense

c.1226G>A; p.G409E; 7:102883467-102883467

 skinmalignant_melanomaSubstitution - Missense

c.1873G>C; p.E625Q; 7:102822185-102822185

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.121_122insA; p.M41fs*32; 7:103028695-103028696

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.2113C>T; p.P705S; 7:102813437-102813437

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.718T>G; p.S240A; 7:102963539-102963539

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.927C>T; p.F309F; 7:102913167-102913167

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1471C>T; p.R491W; 7:102878368-102878368

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.742C>T; p.Q248*; 7:102931916-102931916

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.312G>C; p.K104N; 7:103027464-103027464

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.2029C>T; p.Q677*; 7:102813521-102813521

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.312delG; p.E106fs*4; 7:103027464-103027464

 lungcarcinoma; non_small_cell_carcinomaDeletion - Frameshift

c.105C>T; p.V35V; 7:103028712-103028712

 skinmalignant_melanomaSubstitution - coding silent

c.106G>T; p.V36F; 7:103028711-103028711

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1575T>C; p.Y525Y; 7:102877527-102877527

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.547C>T; p.H183Y; 7:102968066-102968066

 skinmalignant_melanomaSubstitution - Missense

c.575A>T; p.N192I; 7:102968038-102968038

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1798G>A; p.A600T; 7:102832896-102832896

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2095T>C; p.Y699H; 7:102813455-102813455

 ovarycarcinomaSubstitution - Missense

c.1621G>A; p.D541N; 7:102877481-102877481

 NSmalignant_melanomaSubstitution - Missense

c.585G>A; p.W195*; 7:102968028-102968028

 skin; mucosalmalignant_melanomaSubstitution - Nonsense

c.1673A>G; p.E558G; 7:102854823-102854823

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1956C>T; p.D652D; 7:102822102-102822102

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1091C>G; p.T364R; 7:102884230-102884230

 ovaryother; neoplasmSubstitution - Missense

c.1565G>A; p.G522E; 7:102877537-102877537

 skinmalignant_melanomaSubstitution - Missense

c.531A>G; p.I177M; 7:102968082-102968082

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.861G>A; p.T287T; 7:102926291-102926291

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2187C>A; p.S729R; 7:102813363-102813363

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1606G>T; p.D536Y; 7:102877496-102877496

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.106G>A; p.V36I; 7:103028711-103028711

 central_nervous_system; braingliomaSubstitution - Missense

c.385G>C; p.A129P; 7:103025173-103025173

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.967T>A; p.C323S; 7:102913127-102913127

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.813G>A; p.P271P; 7:102926339-102926339

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.701G>A; p.R234Q; 7:102963556-102963556

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.769A>C; p.T257P; 7:102931889-102931889

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.71C>G; p.T24S; 7:103028746-103028746

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.316G>A; p.E106K; 7:103027460-103027460

 skinmalignant_melanomaSubstitution - Missense

c.561G>A; p.L187L; 7:102968052-102968052

 lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.172C>T; p.H58Y; 7:103028645-103028645

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.388G>T; p.A130S; 7:103025170-103025170

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1417C>A; p.L473I; 7:102878422-102878422

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1687G>C; p.E563Q; 7:102854809-102854809

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.447G>A; p.E149E; 7:103025111-103025111

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.906T>C; p.S302S; 7:102913188-102913188

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.416G>A; p.R139Q; 7:103025142-103025142

 skinmalignant_melanomaSubstitution - Missense

c.1783G>T; p.D595Y; 7:102832911-102832911

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1231A>G; p.K411E; 7:102883462-102883462

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

')