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

Basic Information

Gene ID

57510

Name

XPO5

Synonymous

exportin 5;XPO5;exportin 5

Definition

exportin-5|ran-binding protein 21

Position

6p21.1

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

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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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.16.

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.1024G>C; p.D342H; 6:43560995-43560995

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.651G>A; p.A217A; 6:43567352-43567352

 breastcarcinomaSubstitution - coding silent

c.3592C>A; p.L1198M; 6:43523891-43523891

 breastcarcinomaSubstitution - Missense

c.2706C>A; p.F902L; 6:43528897-43528897

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.233G>A; p.R78Q; 6:43572573-43572573

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2072A>G; p.D691G; 6:43547696-43547696

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1571A>G; p.E524G; 6:43553374-43553374

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1333G>C; p.E445Q; 6:43555944-43555944

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.720_721insG; p.S241fs*6; 6:43567282-43567283

 breastcarcinomaInsertion - Frameshift

c.1794G>T; p.R598S; 6:43549555-43549555

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2572A>T; p.M858L; 6:43530793-43530793

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3564G>A; p.T1188T; 6:43523919-43523919

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1987G>A; p.E663K; 6:43548334-43548334

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3303C>T; p.Y1101Y; 6:43524840-43524840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.903C>T; p.S301S; 6:43565668-43565668

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2816T>G; p.L939R; 6:43528165-43528165

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.903C>T; p.S301S; 6:43565668-43565668

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.358G>A; p.V120I; 6:43570937-43570937

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2833G>A; p.E945K; 6:43527721-43527721

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1010T>C; p.L337P; 6:43562248-43562248

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1655T>C; p.V552A; 6:43551371-43551371

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1127_1128insG; p.A377fs*6; 6:43560271-43560272

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.2678-1C>T; p.?; 6:43528926-43528926

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.3066+5G>A; p.?; 6:43525834-43525834

 skinmalignant_melanomaUnknown

c.527G>T; p.R176M; 6:43570596-43570596

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1518G>A; p.M506I; 6:43553427-43553427

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2091G>A; p.A697A; 6:43547677-43547677

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3586G>A; p.G1196S; 6:43523897-43523897

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1170A>T; p.L390L; 6:43560229-43560229

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.805G>T; p.E269*; 6:43567198-43567198

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2429A>C; p.K810T; 6:43533921-43533921

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1556G>A; p.R519Q; 6:43553389-43553389

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2162T>C; p.M721T; 6:43546751-43546751

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.949G>A; p.V317I; 6:43562309-43562309

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.81G>T; p.Q27H; 6:43575784-43575784

 skinmalignant_melanomaSubstitution - Missense

c.2005C>T; p.L669L; 6:43548316-43548316

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1394G>A; p.W465*; 6:43555883-43555883

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.2477C>G; p.S826C; 6:43531542-43531542

 NSNSSubstitution - Missense

c.524G>T; p.R175I; 6:43570599-43570599

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1995G>A; p.Q665Q; 6:43548326-43548326

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1654G>A; p.V552I; 6:43551372-43551372

 bone; femurchondrosarcomaSubstitution - Missense

c.595G>A; p.E199K; 6:43570528-43570528

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2267G>C; p.S756T; 6:43546646-43546646

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1195C>T; p.R399C; 6:43560204-43560204

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.200G>C; p.G67A; 6:43573507-43573507

 breastcarcinomaSubstitution - Missense

c.1314C>T; p.S438S; 6:43555963-43555963

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2679T>G; p.R893R; 6:43528924-43528924

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2679T>G; p.R893R; 6:43528924-43528924

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1268_1269GG>AA; p.R423Q; 6:43558544-43558545

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.715_717delTCT; p.S239delS; 6:43567286-43567288

 breastcarcinomaDeletion - In frame

c.3455G>A; p.R1152H; 6:43524493-43524493

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3545_3546insA; p.P1184fs*11; 6:43523937-43523938

 skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.2534A>T; p.E845V; 6:43531485-43531485

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.2534A>T; p.E845V; 6:43531485-43531485

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3614G>A; p.*1205*; 6:43523869-43523869

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.884C>T; p.A295V; 6:43565687-43565687

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.825C>T; p.V275V; 6:43567178-43567178

 breastcarcinomaSubstitution - coding silent

c.750C>A; p.L250L; 6:43567253-43567253

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.278G>A; p.S93N; 6:43572528-43572528

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1482C>T; p.S494S; 6:43553463-43553463

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3459C>G; p.L1153L; 6:43524489-43524489

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2748C>T; p.L916L; 6:43528855-43528855

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1741G>A; p.V581I; 6:43549922-43549922

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1096-9delT; p.?; 6:43560312-43560312

 livercarcinomaUnknown

c.1321G>A; p.A441T; 6:43555956-43555956

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; large_cellSubstitution - Missense

c.2047C>T; p.Q683*; 6:43548274-43548274

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2216C>T; p.T739I; 6:43546697-43546697

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.857C>T; p.P286L; 6:43565714-43565714

 skinmalignant_melanomaSubstitution - Missense

c.2363C>T; p.A788V; 6:43533987-43533987

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3450C>G; p.F1150L; 6:43524498-43524498

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.112delG; p.E38fs*15; 6:43573595-43573595

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2678G>A; p.R893H; 6:43528925-43528925

 skinmalignant_melanomaSubstitution - Missense

c.346C>G; p.L116V; 6:43570949-43570949

 breastcarcinomaSubstitution - Missense

c.2020G>T; p.A674S; 6:43548301-43548301

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3274T>G; p.S1092A; 6:43524869-43524869

 livercarcinomaSubstitution - Missense

c.3505G>T; p.E1169*; 6:43523978-43523978

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3581A>G; p.D1194G; 6:43523902-43523902

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2906T>A; p.V969D; 6:43527648-43527648

 ovaryother; neoplasmSubstitution - Missense

c.2906T>A; p.V969D; 6:43527648-43527648

 ovaryother; neoplasmSubstitution - Missense

c.365A>T; p.E122V; 6:43570930-43570930

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1529_1530insT; p.L510fs*14; 6:43553415-43553416

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.2983G>A; p.D995N; 6:43526685-43526685

 pancreascarcinomaSubstitution - Missense

c.1913T>C; p.L638P; 6:43548408-43548408

 breastcarcinomaSubstitution - Missense

c.3524T>C; p.L1175P; 6:43523959-43523959

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3205G>A; p.V1069I; 6:43524938-43524938

 skin; trunkmalignant_melanomaSubstitution - Missense

c.134C>A; p.P45H; 6:43573573-43573573

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2827G>A; p.E943K; 6:43527727-43527727

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.844G>A; p.E282K; 6:43565727-43565727

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2368G>T; p.E790*; 6:43533982-43533982

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2958T>C; p.S986S; 6:43526710-43526710

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1396C>T; p.L466L; 6:43555881-43555881

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1653C>T; p.C551C; 6:43551373-43551373

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.381G>A; p.E127E; 6:43570914-43570914

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.234G>T; p.R78R; 6:43572572-43572572

 ovaryother; neoplasmSubstitution - coding silent

c.1305C>A; p.F435L; 6:43558508-43558508

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2943G>A; p.K981K; 6:43526725-43526725

 breastcarcinomaSubstitution - coding silent

c.2334G>A; p.A778A; 6:43546579-43546579

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3360A>G; p.E1120E; 6:43524588-43524588

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.723T>C; p.S241S; 6:43567280-43567280

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2258A>T; p.Y753F; 6:43546655-43546655

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.63G>A; p.M21I; 6:43575802-43575802

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2380A>G; p.K794E; 6:43533970-43533970

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2227G>T; p.E743*; 6:43546686-43546686

 livercarcinomaSubstitution - Nonsense

c.2227G>T; p.E743*; 6:43546686-43546686

 livercarcinomaSubstitution - Nonsense

c.627A>T; p.T209T; 6:43568732-43568732

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1010T>A; p.L337Q; 6:43562248-43562248

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1103G>A; p.R368H; 6:43560296-43560296

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2045C>T; p.S682F; 6:43548276-43548276

 skinmalignant_melanomaSubstitution - Missense

c.1840G>A; p.D614N; 6:43549509-43549509

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3456C>T; p.R1152R; 6:43524492-43524492

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2800A>G; p.I934V; 6:43528181-43528181

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2671A>T; p.M891L; 6:43530694-43530694

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1478_1479insG; p.C493fs*31; 6:43553466-43553467

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.3367_3369delAAG; p.K1123delK; 6:43524579-43524581

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.272A>T; p.K91M; 6:43572534-43572534

 livercarcinomaSubstitution - Missense

c.1265C>T; p.S422F; 6:43558548-43558548

 skinmalignant_melanomaSubstitution - Missense

c.272A>T; p.K91M; 6:43572534-43572534

 livercarcinomaSubstitution - Missense

c.580C>T; p.L194F; 6:43570543-43570543

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1555C>T; p.R519*; 6:43553390-43553390

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2153G>A; p.R718H; 6:43547615-43547615

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3544_3545insA; p.T1182fs*13; 6:43523938-43523939

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.3544_3545insA; p.T1182fs*13; 6:43523938-43523939

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.225C>G; p.V75V; 6:43573482-43573482

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.3544_3545insA; p.T1182fs*13; 6:43523938-43523939

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.3544_3545insA; p.T1182fs*13; 6:43523938-43523939

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1226G>A; p.G409D; 6:43558587-43558587

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.106T>A; p.F36I; 6:43573601-43573601

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1785G>C; p.R595R; 6:43549564-43549564

 skinmalignant_melanomaSubstitution - coding silent

c.3408C>T; p.P1136P; 6:43524540-43524540

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.251G>A; p.R84Q; 6:43572555-43572555

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2284C>T; p.R762C; 6:43546629-43546629

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1273G>T; p.D425Y; 6:43558540-43558540

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.287A>C; p.E96A; 6:43572519-43572519

 livercarcinomaSubstitution - Missense

c.287A>C; p.E96A; 6:43572519-43572519

 livercarcinomaSubstitution - Missense

c.2065C>T; p.L689L; 6:43547703-43547703

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.146C>A; p.P49H; 6:43573561-43573561

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2966C>T; p.P989L; 6:43526702-43526702

 skinmalignant_melanomaSubstitution - Missense

c.266A>G; p.Y89C; 6:43572540-43572540

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.722G>A; p.S241N; 6:43567281-43567281

 skinmalignant_melanomaSubstitution - Missense

c.722G>A; p.S241N; 6:43567281-43567281

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.2981A>T; p.D994V; 6:43526687-43526687

 breastcarcinomaSubstitution - Missense

c.469C>T; p.L157F; 6:43570654-43570654

 skinmalignant_melanomaSubstitution - Missense

c.2985T>C; p.D995D; 6:43525920-43525920

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1354C>T; p.R452C; 6:43555923-43555923

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1023T>G; p.S341S; 6:43560996-43560996

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1354C>T; p.R452C; 6:43555923-43555923

 skinmalignant_melanomaSubstitution - Missense

c.2346C>T; p.T782T; 6:43534004-43534004

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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