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

Basic Information

Gene ID

7045

Name

TGFBI

Synonymous

transforming growth factor, beta-induced, 68kDa;TGFBI;transforming growth factor, beta-induced, 68kDa

Definition

RGD-CAP|RGD-containing collagen-associated protein|beta ig-h3|kerato-epithelin|transforming growth factor, beta-induced, 68kD|transforming growth factor-beta-induced protein ig-h3

Position

5q31

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 0.05.

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.760G>C; p.E254Q; 5:136047409-136047409

 breastcarcinomaSubstitution - Missense

c.376G>A; p.E126K; 5:136046412-136046412

 skinmalignant_melanomaSubstitution - Missense

c.334G>A; p.V112I; 5:136046370-136046370

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1834C>T; p.P612S; 5:136060864-136060864

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1124C>G; p.S375*; 5:136053117-136053117

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.525G>A; p.M175I; 5:136046916-136046916

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.525G>A; p.M175I; 5:136046916-136046916

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1241C>T; p.A414V; 5:136054057-136054057

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.17G>T; p.R6L; 5:136029072-136029072

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.752A>G; p.D251G; 5:136047401-136047401

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1226G>A; p.R409Q; 5:136054042-136054042

 oesophaguscarcinomaSubstitution - Missense

c.370C>T; p.R124C; 5:136046406-136046406

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.1006G>A; p.E336K; 5:136052999-136052999

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.406G>A; p.G136S; 5:136046442-136046442

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.894C>T; p.G298G; 5:136049561-136049561

 breastcarcinomaSubstitution - coding silent

c.624G>T; p.G208G; 5:136047015-136047015

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1214C>T; p.S405F; 5:136054030-136054030

 skinmalignant_melanomaSubstitution - Missense

c.374C>T; p.T125M; 5:136046410-136046410

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1726G>A; p.E576K; 5:136059137-136059137

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1726G>A; p.E576K; 5:136059137-136059137

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1726G>A; p.E576K; 5:136059137-136059137

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1726G>A; p.E576K; 5:136059137-136059137

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1231A>G; p.T411A; 5:136054047-136054047

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.660C>G; p.A220A; 5:136047309-136047309

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1604G>A; p.G535E; 5:136056721-136056721

 skinmalignant_melanomaSubstitution - Missense

c.1566C>A; p.I522I; 5:136056683-136056683

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1479G>A; p.T493T; 5:136055748-136055748

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1479G>A; p.T493T; 5:136055748-136055748

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1152A>C; p.A384A; 5:136053968-136053968

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1933G>A; p.E645K; 5:136061526-136061526

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1664G>A; p.R555Q; 5:136056781-136056781

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1826A>G; p.N609S; 5:136060856-136060856

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.299-1G>T; p.?; 5:136046334-136046334

 lungcarcinoma; adenocarcinomaUnknown

c.969G>A; p.A323A; 5:136052962-136052962

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.804G>T; p.M268I; 5:136049471-136049471

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1439C>T; p.A480V; 5:136055708-136055708

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1439C>T; p.A480V; 5:136055708-136055708

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.895G>A; p.D299N; 5:136049562-136049562

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1861A>C; p.T621P; 5:136060891-136060891

 skinmalignant_melanomaSubstitution - Missense

c.1201G>T; p.G401C; 5:136054017-136054017

 livercarcinomaSubstitution - Missense

c.1201G>T; p.G401C; 5:136054017-136054017

 livercarcinomaSubstitution - Missense

c.1520A>T; p.D507V; 5:136055789-136055789

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.678C>T; p.N226N; 5:136047327-136047327

 prostatecarcinomaSubstitution - coding silent

c.769C>T; p.R257W; 5:136047418-136047418

 skinmalignant_melanomaSubstitution - Missense

c.381G>A; p.K127K; 5:136046417-136046417

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.771G>T; p.R257R; 5:136047420-136047420

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.596A>G; p.N199S; 5:136046987-136046987

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1286C>T; p.A429V; 5:136054737-136054737

 pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - Missense

c.1286C>T; p.A429V; 5:136054737-136054737

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1071C>G; p.I357M; 5:136053064-136053064

 breastcarcinomaSubstitution - Missense

c.423C>T; p.F141F; 5:136046459-136046459

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.423C>T; p.F141F; 5:136046459-136046459

 pancreascarcinomaSubstitution - coding silent

c.795C>T; p.L265L; 5:136049462-136049462

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.609C>G; p.H203Q; 5:136047000-136047000

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1240G>A; p.A414T; 5:136054056-136054056

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.755C>A; p.T252N; 5:136047404-136047404

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.358C>A; p.L120M; 5:136046394-136046394

 breastcarcinomaSubstitution - Missense

c.1211T>C; p.L404P; 5:136054027-136054027

 livercarcinomaSubstitution - Missense

c.1405C>A; p.R469S; 5:136054856-136054856

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1211T>C; p.L404P; 5:136054027-136054027

 livercarcinomaSubstitution - Missense

c.2039G>T; p.R680M; 5:136063213-136063213

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1949C>T; p.A650V; 5:136061542-136061542

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1949C>T; p.A650V; 5:136061542-136061542

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1866T>C; p.N622N; 5:136060896-136060896

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1087G>T; p.V363L; 5:136053080-136053080

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1087G>T; p.V363L; 5:136053080-136053080

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1405C>T; p.R469C; 5:136054856-136054856

 skinmalignant_melanomaSubstitution - Missense

c.366G>A; p.T122T; 5:136046402-136046402

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.747C>T; p.I249I; 5:136047396-136047396

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.375G>A; p.T125T; 5:136046411-136046411

 skinmalignant_melanomaSubstitution - coding silent

c.382C>T; p.L128L; 5:136046418-136046418

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.625-1G>A; p.?; 5:136047273-136047273

 pancreascarcinoma; ductal_carcinomaUnknown

c.625-1G>A; p.?; 5:136047273-136047273

 pancreascarcinomaUnknown

c.625-1G>A; p.?; 5:136047273-136047273

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Unknown

c.1584G>A; p.T528T; 5:136056701-136056701

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1584G>A; p.T528T; 5:136056701-136056701

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.518A>G; p.Y173C; 5:136046909-136046909

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1886C>T; p.T629I; 5:136060916-136060916

 skinmalignant_melanomaSubstitution - Missense

c.1504A>G; p.M502V; 5:136055773-136055773

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1201G>A; p.G401S; 5:136054017-136054017

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1201G>A; p.G401S; 5:136054017-136054017

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.842C>A; p.T281N; 5:136049509-136049509

 central_nervous_system; braingliomaSubstitution - Missense

c.1913G>A; p.R638K; 5:136061506-136061506

 skinmalignant_melanomaSubstitution - Missense

c.694A>G; p.I232V; 5:136047343-136047343

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.864C>G; p.I288M; 5:136049531-136049531

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.828G>A; p.T276T; 5:136049495-136049495

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.828G>A; p.T276T; 5:136049495-136049495

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.828G>A; p.T276T; 5:136049495-136049495

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.828G>A; p.T276T; 5:136049495-136049495

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1526T>C; p.L509P; 5:136055795-136055795

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1306C>T; p.R436W; 5:136054757-136054757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1769A>C; p.K590T; 5:136059180-136059180

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.953C>T; p.A318V; 5:136052946-136052946

 pancreascarcinomaSubstitution - Missense

c.953C>T; p.A318V; 5:136052946-136052946

 pancreascarcinomaSubstitution - Missense

c.432C>A; p.S144R; 5:136046468-136046468

 pancreascarcinomaSubstitution - Missense

c.16C>T; p.R6W; 5:136029071-136029071

 livercarcinomaSubstitution - Missense

c.16C>T; p.R6W; 5:136029071-136029071

 livercarcinomaSubstitution - Missense

c.981A>G; p.V327V; 5:136052974-136052974

 thyroidother; neoplasmSubstitution - coding silent

c.647G>A; p.R216Q; 5:136047296-136047296

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1379G>A; p.G460D; 5:136054830-136054830

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1585G>A; p.E529K; 5:136056702-136056702

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1146G>A; p.L382L; 5:136053962-136053962

 livercarcinomaSubstitution - coding silent

c.1781G>T; p.G594V; 5:136059192-136059192

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1146G>A; p.L382L; 5:136053962-136053962

 livercarcinomaSubstitution - coding silent

c.668A>G; p.H223R; 5:136047317-136047317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1598G>T; p.R533L; 5:136056715-136056715

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1022G>C; p.G341A; 5:136053015-136053015

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2037G>A; p.E679E; 5:136063211-136063211

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1185C>T; p.F395F; 5:136054001-136054001

 breastcarcinomaSubstitution - coding silent

c.1341G>A; p.K447K; 5:136054792-136054792

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1377C>T; p.G459G; 5:136054828-136054828

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1606G>A; p.V536I; 5:136056723-136056723

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1360A>G; p.T454A; 5:136054811-136054811

 breastcarcinomaSubstitution - Missense

c.1495_1496insC; p.M502fs*15; 5:136055764-136055765

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.578C>T; p.S193F; 5:136046969-136046969

 skinmalignant_melanomaSubstitution - Missense

c.959C>T; p.A320V; 5:136052952-136052952

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1267G>T; p.G423*; 5:136054718-136054718

 skinmalignant_melanomaSubstitution - Nonsense

c.550G>T; p.E184*; 5:136046941-136046941

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1977G>A; p.A659A; 5:136061570-136061570

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.755C>T; p.T252I; 5:136047404-136047404

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1511C>A; p.T504N; 5:136055780-136055780

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1151C>T; p.A384V; 5:136053967-136053967

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1825A>C; p.N609H; 5:136060855-136060855

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.513C>T; p.L171L; 5:136046904-136046904

 breastcarcinomaSubstitution - coding silent

c.1083C>T; p.N361N; 5:136053076-136053076

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.975G>T; p.L325L; 5:136052968-136052968

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.1478C>T; p.T493M; 5:136055747-136055747

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1478C>T; p.T493M; 5:136055747-136055747

 pancreascarcinomaSubstitution - Missense

c.975G>T; p.L325L; 5:136052968-136052968

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1496delC; p.P501fs*9; 5:136055765-136055765

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1496delC; p.P501fs*9; 5:136055765-136055765

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1831G>A; p.E611K; 5:136060861-136060861

 breastcarcinomaSubstitution - Missense

c.1975G>A; p.A659T; 5:136061568-136061568

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1442C>T; p.A481V; 5:136055711-136055711

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1058C>T; p.S353F; 5:136053051-136053051

 skinmalignant_melanomaSubstitution - Missense

c.1318A>T; p.I440F; 5:136054769-136054769

 skinmalignant_melanomaSubstitution - Missense

c.377A>C; p.E126A; 5:136046413-136046413

 ovaryother; neoplasmSubstitution - Missense

c.1513G>T; p.V505F; 5:136055782-136055782

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1414C>T; p.L472F; 5:136055683-136055683

 breastcarcinomaSubstitution - Missense

c.639C>T; p.N213N; 5:136047288-136047288

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1049C>T; p.A350V; 5:136053042-136053042

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.208C>A; p.Q70K; 5:136033836-136033836

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1380_1381insA; p.L463fs*8; 5:136054831-136054832

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.680G>C; p.G227A; 5:136047329-136047329

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.247G>A; p.E83K; 5:136044071-136044071

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1230G>A; p.L410L; 5:136054046-136054046

 thyroidcarcinomaSubstitution - coding silent

c.1210C>T; p.L404F; 5:136054026-136054026

 skinmalignant_melanomaSubstitution - Missense

c.1295G>C; p.R432T; 5:136054746-136054746

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.651G>C; p.L217L; 5:136047300-136047300

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.651G>C; p.L217L; 5:136047300-136047300

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1496_1497insC; p.M502fs*15; 5:136055765-136055766

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.460-1G>A; p.?; 5:136046850-136046850

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1307G>A; p.R436Q; 5:136054758-136054758

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1597C>A; p.R533R; 5:136056714-136056714

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.697G>A; p.D233N; 5:136047346-136047346

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.697G>A; p.D233N; 5:136047346-136047346

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.963C>T; p.I321I; 5:136052956-136052956

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1406G>A; p.R469H; 5:136054857-136054857

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.371G>A; p.R124H; 5:136046407-136046407

 pancreascarcinomaSubstitution - Missense

c.2049T>C; p.H683H; 5:136063223-136063223

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.713C>T; p.T238I; 5:136047362-136047362

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.417C>T; p.T139T; 5:136046453-136046453

 skinmalignant_melanomaSubstitution - coding silent

c.417C>T; p.T139T; 5:136046453-136046453

 skinmalignant_melanomaSubstitution - coding silent

c.965T>C; p.V322A; 5:136052958-136052958

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.234-2_234-1delAG; p.?; 5:136044056-136044057

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.396G>A; p.M132I; 5:136046432-136046432

 skinmalignant_melanomaSubstitution - Missense

c.1310A>G; p.N437S; 5:136054761-136054761

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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