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

Basic Information

Gene ID

2192

Name

FBLN1

Synonymous

fibulin 1;FBLN1;fibulin 1

Definition

fibulin-1

Position

22q13.31

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 0.12.

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.2051delG; p.G684fs*>20; 22:45600385-45600385

large_intestine; coloncarcinomaDeletion - Frameshift

c.1662C>T; p.F554F; 22:45550580-45550580

skinmalignant_melanomaSubstitution - coding silent

c.1104G>A; p.G368G; 22:45542192-45542192

skinmalignant_melanomaSubstitution - coding silent

c.998C>T; p.T333M; 22:45541304-45541304

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.149G>A; p.C50Y; 22:45518751-45518751

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1492T>C; p.C498R; 22:45548663-45548663

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.958C>T; p.P320S; 22:45541264-45541264

skinmalignant_melanomaSubstitution - Missense

c.178G>T; p.E60*; 22:45518780-45518780

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1195_1195+1GG>AA; p.?; 22:45542283-45542284

skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1959C>T; p.D653D; 22:45577095-45577095

prostatecarcinomaSubstitution - coding silent

c.1990C>T; p.R664W; 22:45600324-45600324

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.344T>C; p.L115P; 22:45527869-45527869

skinmalignant_melanomaSubstitution - Missense

c.952C>T; p.P318S; 22:45541258-45541258

skinmalignant_melanomaSubstitution - Missense

c.1949G>A; p.R650H; 22:45577085-45577085

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.112G>A; p.A38T; 22:45518714-45518714

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.112G>A; p.A38T; 22:45518714-45518714

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.379G>C; p.E127Q; 22:45527904-45527904

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1080C>T; p.C360C; 22:45542168-45542168

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1679A>G; p.Y560C; 22:45550597-45550597

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1080C>T; p.C360C; 22:45542168-45542168

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1080C>T; p.C360C; 22:45542168-45542168

autonomic_ganglianeuroblastomaSubstitution - coding silent

c.2011C>T; p.H671Y; 22:45600345-45600345

skinmalignant_melanomaSubstitution - Missense

c.1147G>A; p.E383K; 22:45542235-45542235

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2080G>A; p.V694I; 22:45600414-45600414

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.185+1G>A; p.?; 22:45518788-45518788

central_nervous_system; braingliomaUnknown

c.1241A>G; p.K414R; 22:45543446-45543446

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.953C>A; p.P318Q; 22:45541259-45541259

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.286G>A; p.G96S; 22:45525643-45525643

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1337G>T; p.S446I; 22:45547100-45547100

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1685G>A; p.R562H; 22:45550603-45550603

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.124C>T; p.R42W; 22:45518726-45518726

skinmalignant_melanomaSubstitution - Missense

c.2017G>A; p.V673I; 22:45600351-45600351

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1998C>T; p.I666I; 22:45600332-45600332

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2047delG; p.G684fs*>20; 22:45600381-45600381

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1818C>G; p.F606L; 22:45574631-45574631

skinmalignant_melanomaSubstitution - Missense

c.2065C>T; p.R689*; 22:45600399-45600399

skinmalignant_melanomaSubstitution - Nonsense

c.745G>A; p.G249R; 22:45533859-45533859

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.626C>G; p.S209C; 22:45533144-45533144

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.941G>A; p.S314N; 22:45541247-45541247

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.358C>T; p.Q120*; 22:45527883-45527883

skinmalignant_melanomaSubstitution - Nonsense

c.963C>T; p.I321I; 22:45541269-45541269

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1688C>T; p.S563F; 22:45550606-45550606

skinmalignant_melanomaSubstitution - Missense

c.1961G>A; p.G654D; 22:45577097-45577097

thyroidcarcinomaSubstitution - Missense

c.1659C>A; p.A553A; 22:45550577-45550577

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2047G>A; p.G683R; 22:45600381-45600381

central_nervous_system; braingliomaSubstitution - Missense

c.1441+8C>T; p.?; 22:45547212-45547212

pancreascarcinomaUnknown

c.1562G>A; p.R521H; 22:45548733-45548733

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1562G>A; p.R521H; 22:45548733-45548733

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1562G>A; p.R521H; 22:45548733-45548733

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1136_1150del15; p.F380_C384delFRCEC; 22:45542224-45542238

ovarycarcinoma; serous_carcinomaDeletion - In frame

c.950C>A; p.A317D; 22:45541256-45541256

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.732G>T; p.R244R; 22:45533846-45533846

lung; middle_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1146C>T; p.C382C; 22:45542234-45542234

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.945C>T; p.I315I; 22:45541251-45541251

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.523T>A; p.Y175N; 22:45531303-45531303

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1982G>A; p.R661H; 22:45600316-45600316

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1776C>T; p.P592P; 22:45574589-45574589

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2078A>G; p.N693S; 22:45600412-45600412

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.366G>T; p.Q122H; 22:45527891-45527891

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.366G>T; p.Q122H; 22:45527891-45527891

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1203C>T; p.N401N; 22:45543408-45543408

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.921T>C; p.I307I; 22:45535336-45535336

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1753G>A; p.D585N; 22:45574566-45574566

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1753G>A; p.D585N; 22:45574566-45574566

skinmalignant_melanomaSubstitution - Missense

c.296C>A; p.A99D; 22:45525653-45525653

livercarcinomaSubstitution - Missense

c.869C>A; p.P290H; 22:45535284-45535284

central_nervous_system; braingliomaSubstitution - Missense

c.1822G>A; p.E608K; 22:45574635-45574635

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1822G>A; p.E608K; 22:45574635-45574635

skinmalignant_melanomaSubstitution - Missense

c.1114C>T; p.R372C; 22:45542202-45542202

skinmalignant_melanomaSubstitution - Missense

c.1855C>T; p.R619W; 22:45576991-45576991

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.683G>A; p.R228Q; 22:45533797-45533797

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1897A>G; p.I633V; 22:45577033-45577033

urinary_tract; bladdercarcinomaSubstitution - Missense

c.86C>T; p.A29V; 22:45518688-45518688

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1291C>T; p.R431W; 22:45543496-45543496

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1291C>T; p.R431W; 22:45543496-45543496

large_intestine; coloncarcinomaSubstitution - Missense

c.1771G>A; p.D591N; 22:45574584-45574584

skinmalignant_melanomaSubstitution - Missense

c.721C>T; p.R241C; 22:45533835-45533835

skinmalignant_melanomaSubstitution - Missense

c.721C>T; p.R241C; 22:45533835-45533835

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1366A>G; p.N456D; 22:45547129-45547129

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1770C>G; p.F590L; 22:45574583-45574583

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1010A>G; p.N337S; 22:45541316-45541316

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1000T>A; p.C334S; 22:45541306-45541306

pancreascarcinomaSubstitution - Missense

c.1959C>A; p.D653E; 22:45577095-45577095

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1010A>G; p.N337S; 22:45541316-45541316

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1093G>C; p.E365Q; 22:45542181-45542181

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.826G>A; p.D276N; 22:45535241-45535241

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.826G>A; p.D276N; 22:45535241-45535241

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.118G>A; p.G40R; 22:45518720-45518720

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.722G>A; p.R241H; 22:45533836-45533836

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.759G>T; p.E253D; 22:45533873-45533873

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.152C>T; p.S51L; 22:45518754-45518754

skinmalignant_melanomaSubstitution - Missense

c.807T>C; p.G269G; 22:45535222-45535222

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1516C>T; p.Q506*; 22:45548687-45548687

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1782C>T; p.H594H; 22:45574595-45574595

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2049G>T; p.G683G; 22:45600383-45600383

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.450C>T; p.T150T; 22:45527975-45527975

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2056G>T; p.V686F; 22:45600390-45600390

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1330G>A; p.E444K; 22:45547093-45547093

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2015C>T; p.A672V; 22:45600349-45600349

skinmalignant_melanomaSubstitution - Missense

c.451G>A; p.G151R; 22:45527976-45527976

skinmalignant_melanomaSubstitution - Missense

c.1397G>A; p.R466Q; 22:45547160-45547160

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1056G>A; p.T352T; 22:45541362-45541362

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1056G>A; p.T352T; 22:45541362-45541362

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1739C>T; p.S580F; 22:45574552-45574552

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.535C>A; p.R179S; 22:45531315-45531315

urinary_tract; bladdercarcinomaSubstitution - Missense

c.535C>A; p.R179S; 22:45531315-45531315

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1721C>T; p.T574M; 22:45574534-45574534

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.570C>T; p.C190C; 22:45533088-45533088

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.804T>C; p.S268S; 22:45535219-45535219

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1832G>A; p.R611H; 22:45574645-45574645

thyroidcarcinomaSubstitution - Missense

c.1832G>A; p.R611H; 22:45574645-45574645

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1008G>T; p.K336N; 22:45541314-45541314

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1755T>C; p.D585D; 22:45574568-45574568

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.675C>T; p.H225H; 22:45533789-45533789

skin; armmalignant_melanomaSubstitution - coding silent

c.143A>G; p.K48R; 22:45518745-45518745

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1204G>T; p.E402*; 22:45543409-45543409

livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.606C>T; p.F202F; 22:45533124-45533124

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.152C>G; p.S51W; 22:45518754-45518754

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1246G>A; p.E416K; 22:45543451-45543451

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1905C>A; p.D635E; 22:45577041-45577041

breastcarcinomaSubstitution - Missense

c.596G>T; p.C199F; 22:45533114-45533114

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.367G>A; p.G123S; 22:45527892-45527892

skinmalignant_melanomaSubstitution - Missense

c.1574A>G; p.D525G; 22:45550492-45550492

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.282C>T; p.P94P; 22:45525639-45525639

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1119C>T; p.C373C; 22:45542207-45542207

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1119C>T; p.C373C; 22:45542207-45542207

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1764C>T; p.C588C; 22:45574577-45574577

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.378C>T; p.C126C; 22:45527903-45527903

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1455C>T; p.C485C; 22:45548626-45548626

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1455C>T; p.C485C; 22:45548626-45548626

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.421C>T; p.Q141*; 22:45527946-45527946

skinmalignant_melanomaSubstitution - Nonsense

c.1821C>T; p.R607R; 22:45574634-45574634

lungcarcinoid-endocrine_tumour; typicalSubstitution - coding silent

c.1430T>C; p.V477A; 22:45547193-45547193

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.466G>A; p.G156R; 22:45527991-45527991

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense


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