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

Basic Information

Gene ID

2934

Name

GSN

Synonymous

gelsolin;GSN;gelsolin

Definition

actin-depolymerizing factor|brevin

Position

9q33

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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.06.

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.725C>T; p.A242V; 9:121313995-121313995

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.699C>T; p.T233T; 9:121313969-121313969

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2114T>C; p.F705S; 9:121332521-121332521

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1891G>A; p.E631K; 9:121329241-121329241

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.2167G>T; p.D723Y; 9:121332574-121332574

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.449C>T; p.T150I; 9:121310781-121310781

breastcarcinoma; ductolobular_carcinomaSubstitution - Missense

c.449C>T; p.T150I; 9:121310781-121310781

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2113T>C; p.F705L; 9:121332520-121332520

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1932G>T; p.T644T; 9:121329282-121329282

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1116C>T; p.D372D; 9:121318805-121318805

livercarcinomaSubstitution - coding silent

c.514-2A>T; p.?; 9:121312337-121312337

kidneycarcinoma; papillary_renal_cell_carcinomaUnknown

c.2115T>C; p.F705F; 9:121332522-121332522

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2030A>G; p.K677R; 9:121332437-121332437

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.175T>C; p.Y59H; 9:121302146-121302146

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.486C>T; p.G162G; 9:121310818-121310818

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.486C>T; p.G162G; 9:121310818-121310818

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.76G>A; p.D26N; 9:121302047-121302047

skinmalignant_melanomaSubstitution - Missense

c.76G>A; p.D26N; 9:121302047-121302047

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.19G>A; p.E7K; 9:121301990-121301990

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.123C>T; p.G41G; 9:121302094-121302094

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.123C>T; p.G41G; 9:121302094-121302094

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1512C>T; p.G504G; 9:121326607-121326607

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.903G>A; p.T301T; 9:121318422-121318422

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1879C>T; p.R627C; 9:121329007-121329007

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.191G>C; p.W64S; 9:121302162-121302162

skinmalignant_melanomaSubstitution - Missense

c.1928C>T; p.A643V; 9:121329278-121329278

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1191+1G>A; p.?; 9:121318881-121318881

stomachcarcinoma; adenocarcinomaUnknown

c.1357G>A; p.A453T; 9:121324585-121324585

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2068C>T; p.R690W; 9:121332475-121332475

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.243C>T; p.T81T; 9:121302957-121302957

skinmalignant_melanomaSubstitution - coding silent

c.1498A>C; p.T500P; 9:121326593-121326593

ovaryother; neoplasmSubstitution - Missense

c.1079C>T; p.S360F; 9:121318768-121318768

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.597C>T; p.N199N; 9:121312422-121312422

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.557G>A; p.R186K; 9:121312382-121312382

skinmalignant_melanomaSubstitution - Missense

c.2032C>T; p.R678W; 9:121332439-121332439

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.429G>A; p.G143G; 9:121310761-121310761

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2182G>C; p.E728Q; 9:121332589-121332589

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2182G>C; p.E728Q; 9:121332589-121332589

thyroidother; neoplasmSubstitution - Missense

c.1036C>T; p.R346W; 9:121318725-121318725

livercarcinomaSubstitution - Missense

c.985C>T; p.L329F; 9:121318674-121318674

skinmalignant_melanomaSubstitution - Missense

c.985C>T; p.L329F; 9:121318674-121318674

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1036C>T; p.R346W; 9:121318725-121318725

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.964A>T; p.K322*; 9:121318483-121318483

soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Nonsense

c.385G>A; p.V129I; 9:121310717-121310717

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.799G>A; p.E267K; 9:121317131-121317131

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2086G>A; p.V696M; 9:121332493-121332493

bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1261G>T; p.D421Y; 9:121321337-121321337

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.450C>T; p.T150T; 9:121310782-121310782

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.879C>T; p.V293V; 9:121317211-121317211

breastcarcinomaSubstitution - coding silent

c.222C>T; p.S74S; 9:121302936-121302936

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.663+4C>T; p.?; 9:121312492-121312492

pancreascarcinomaUnknown

c.91C>T; p.P31S; 9:121302062-121302062

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1496G>A; p.G499D; 9:121326591-121326591

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2045C>T; p.T682M; 9:121332452-121332452

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2068C>G; p.R690G; 9:121332475-121332475

skinmalignant_melanomaSubstitution - Missense

c.303C>T; p.F101F; 9:121303017-121303017

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.303C>T; p.F101F; 9:121303017-121303017

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1058G>A; p.G353D; 9:121318747-121318747

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2189C>A; p.A730D; 9:121332596-121332596

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1924C>T; p.L642L; 9:121329274-121329274

skinmalignant_melanomaSubstitution - coding silent

c.1588-1G>T; p.?; 9:121327307-121327307

stomachcarcinoma; adenocarcinomaUnknown

c.700G>A; p.E234K; 9:121313970-121313970

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.757T>C; p.S253P; 9:121317089-121317089

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.390C>T; p.P130P; 9:121310722-121310722

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.557G>C; p.R186T; 9:121312382-121312382

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1838C>T; p.A613V; 9:121328966-121328966

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.866G>T; p.G289V; 9:121317198-121317198

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.381C>T; p.H127H; 9:121310713-121310713

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.29A>T; p.K10M; 9:121302000-121302000

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1251C>A; p.F417L; 9:121321327-121321327

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.753+1G>A; p.?; 9:121314024-121314024

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.127G>A; p.A43T; 9:121302098-121302098

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.127G>A; p.A43T; 9:121302098-121302098

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2027C>T; p.A676V; 9:121332434-121332434

livercarcinomaSubstitution - Missense

c.19G>T; p.E7*; 9:121301990-121301990

prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.49C>A; p.L17M; 9:121302020-121302020

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.537C>T; p.S179S; 9:121312362-121312362

skinmalignant_melanomaSubstitution - coding silent

c.2012A>G; p.E671G; 9:121331434-121331434

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.855C>T; p.H285H; 9:121317187-121317187

breastcarcinomaSubstitution - coding silent

c.2040C>T; p.I680I; 9:121332447-121332447

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1260C>T; p.G420G; 9:121321336-121321336

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1959G>T; p.W653C; 9:121329309-121329309

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.487G>A; p.D163N; 9:121310819-121310819

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.487G>A; p.D163N; 9:121310819-121310819

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.887-2A>T; p.?; 9:121318404-121318404

lungcarcinoma; squamous_cell_carcinomaUnknown

c.120G>A; p.T40T; 9:121302091-121302091

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1076_1078delTTT; p.L359_S360>P; 9:121318765-121318767

central_nervous_system; brainglioma; astrocytoma_Grade_IVComplex - deletion inframe

c.466T>C; p.W156R; 9:121310798-121310798

NSmalignant_melanomaSubstitution - Missense

c.308C>A; p.S103*; 9:121303022-121303022

oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.2066G>A; p.R689Q; 9:121332473-121332473

skinmalignant_melanomaSubstitution - Missense

c.1679G>A; p.S560N; 9:121327399-121327399

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.823C>A; p.L275M; 9:121317155-121317155

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.154C>A; p.L52M; 9:121302125-121302125

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.206G>A; p.C69Y; 9:121302920-121302920

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1000G>C; p.E334Q; 9:121318689-121318689

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1000G>C; p.E334Q; 9:121318689-121318689

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2082C>A; p.T694T; 9:121332489-121332489

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.803A>G; p.N268S; 9:121317135-121317135

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.397G>A; p.V133M; 9:121310729-121310729

pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.1288C>T; p.R430C; 9:121321364-121321364

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.196+2_196+4delTGA; p.?; 9:121302169-121302171

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.196+2_196+4delTGA; p.?; 9:121302169-121302171

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.680C>A; p.P227Q; 9:121313950-121313950

autonomic_ganglianeuroblastomaSubstitution - Missense

c.731G>A; p.R244H; 9:121314001-121314001

bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.79C>A; p.L27M; 9:121302050-121302050

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1750G>A; p.G584S; 9:121327470-121327470

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1117G>A; p.A373T; 9:121318806-121318806

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.351+2T>G; p.?; 9:121303067-121303067

breastcarcinomaUnknown

c.1424T>C; p.V475A; 9:121326519-121326519

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1533C>T; p.S511S; 9:121326628-121326628

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.867G>A; p.G289G; 9:121317199-121317199

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.40G>A; p.E14K; 9:121302011-121302011

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1023C>A; p.F341L; 9:121318712-121318712

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.753+3G>A; p.?; 9:121314026-121314026

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.1223C>G; p.P408R; 9:121321299-121321299

lungcarcinoma; large_cell_carcinomaSubstitution - Missense


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