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 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
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 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; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.699C>T; p.T233T; 9:121313969-121313969 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2114T>C; p.F705S; 9:121332521-121332521 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1891G>A; p.E631K; 9:121329241-121329241 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.2167G>T; p.D723Y; 9:121332574-121332574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.449C>T; p.T150I; 9:121310781-121310781 |
breast | carcinoma; ductolobular_carcinoma | Substitution - Missense |
c.449C>T; p.T150I; 9:121310781-121310781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2113T>C; p.F705L; 9:121332520-121332520 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1932G>T; p.T644T; 9:121329282-121329282 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.D372D; 9:121318805-121318805 |
liver | carcinoma | Substitution - coding silent |
c.514-2A>T; p.?; 9:121312337-121312337 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Unknown |
c.2115T>C; p.F705F; 9:121332522-121332522 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2030A>G; p.K677R; 9:121332437-121332437 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.175T>C; p.Y59H; 9:121302146-121302146 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.486C>T; p.G162G; 9:121310818-121310818 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.486C>T; p.G162G; 9:121310818-121310818 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.76G>A; p.D26N; 9:121302047-121302047 |
skin | malignant_melanoma | Substitution - Missense |
c.76G>A; p.D26N; 9:121302047-121302047 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.19G>A; p.E7K; 9:121301990-121301990 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.123C>T; p.G41G; 9:121302094-121302094 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.123C>T; p.G41G; 9:121302094-121302094 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1512C>T; p.G504G; 9:121326607-121326607 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.903G>A; p.T301T; 9:121318422-121318422 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1879C>T; p.R627C; 9:121329007-121329007 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.191G>C; p.W64S; 9:121302162-121302162 |
skin | malignant_melanoma | Substitution - Missense |
c.1928C>T; p.A643V; 9:121329278-121329278 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1191+1G>A; p.?; 9:121318881-121318881 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1357G>A; p.A453T; 9:121324585-121324585 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2068C>T; p.R690W; 9:121332475-121332475 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.243C>T; p.T81T; 9:121302957-121302957 |
skin | malignant_melanoma | Substitution - coding silent |
c.1498A>C; p.T500P; 9:121326593-121326593 |
ovary | other; neoplasm | Substitution - Missense |
c.1079C>T; p.S360F; 9:121318768-121318768 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.597C>T; p.N199N; 9:121312422-121312422 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.557G>A; p.R186K; 9:121312382-121312382 |
skin | malignant_melanoma | Substitution - Missense |
c.2032C>T; p.R678W; 9:121332439-121332439 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.429G>A; p.G143G; 9:121310761-121310761 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2182G>C; p.E728Q; 9:121332589-121332589 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2182G>C; p.E728Q; 9:121332589-121332589 |
thyroid | other; neoplasm | Substitution - Missense |
c.1036C>T; p.R346W; 9:121318725-121318725 |
liver | carcinoma | Substitution - Missense |
c.985C>T; p.L329F; 9:121318674-121318674 |
skin | malignant_melanoma | Substitution - Missense |
c.985C>T; p.L329F; 9:121318674-121318674 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1036C>T; p.R346W; 9:121318725-121318725 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.964A>T; p.K322*; 9:121318483-121318483 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Nonsense |
c.385G>A; p.V129I; 9:121310717-121310717 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.799G>A; p.E267K; 9:121317131-121317131 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2086G>A; p.V696M; 9:121332493-121332493 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1261G>T; p.D421Y; 9:121321337-121321337 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.450C>T; p.T150T; 9:121310782-121310782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.879C>T; p.V293V; 9:121317211-121317211 |
breast | carcinoma | Substitution - coding silent |
c.222C>T; p.S74S; 9:121302936-121302936 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.663+4C>T; p.?; 9:121312492-121312492 |
pancreas | carcinoma | Unknown |
c.91C>T; p.P31S; 9:121302062-121302062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1496G>A; p.G499D; 9:121326591-121326591 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2045C>T; p.T682M; 9:121332452-121332452 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2068C>G; p.R690G; 9:121332475-121332475 |
skin | malignant_melanoma | Substitution - Missense |
c.303C>T; p.F101F; 9:121303017-121303017 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.303C>T; p.F101F; 9:121303017-121303017 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1058G>A; p.G353D; 9:121318747-121318747 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2189C>A; p.A730D; 9:121332596-121332596 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1924C>T; p.L642L; 9:121329274-121329274 |
skin | malignant_melanoma | Substitution - coding silent |
c.1588-1G>T; p.?; 9:121327307-121327307 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.700G>A; p.E234K; 9:121313970-121313970 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.757T>C; p.S253P; 9:121317089-121317089 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.390C>T; p.P130P; 9:121310722-121310722 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.557G>C; p.R186T; 9:121312382-121312382 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1838C>T; p.A613V; 9:121328966-121328966 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.866G>T; p.G289V; 9:121317198-121317198 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.381C>T; p.H127H; 9:121310713-121310713 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.29A>T; p.K10M; 9:121302000-121302000 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1251C>A; p.F417L; 9:121321327-121321327 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.753+1G>A; p.?; 9:121314024-121314024 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.127G>A; p.A43T; 9:121302098-121302098 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.127G>A; p.A43T; 9:121302098-121302098 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2027C>T; p.A676V; 9:121332434-121332434 |
liver | carcinoma | Substitution - Missense |
c.19G>T; p.E7*; 9:121301990-121301990 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.49C>A; p.L17M; 9:121302020-121302020 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.537C>T; p.S179S; 9:121312362-121312362 |
skin | malignant_melanoma | Substitution - coding silent |
c.2012A>G; p.E671G; 9:121331434-121331434 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.855C>T; p.H285H; 9:121317187-121317187 |
breast | carcinoma | Substitution - coding silent |
c.2040C>T; p.I680I; 9:121332447-121332447 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1260C>T; p.G420G; 9:121321336-121321336 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1959G>T; p.W653C; 9:121329309-121329309 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.487G>A; p.D163N; 9:121310819-121310819 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.487G>A; p.D163N; 9:121310819-121310819 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.887-2A>T; p.?; 9:121318404-121318404 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.120G>A; p.T40T; 9:121302091-121302091 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1076_1078delTTT; p.L359_S360>P; 9:121318765-121318767 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Complex - deletion inframe |
c.466T>C; p.W156R; 9:121310798-121310798 |
NS | malignant_melanoma | Substitution - Missense |
c.308C>A; p.S103*; 9:121303022-121303022 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2066G>A; p.R689Q; 9:121332473-121332473 |
skin | malignant_melanoma | Substitution - Missense |
c.1679G>A; p.S560N; 9:121327399-121327399 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.823C>A; p.L275M; 9:121317155-121317155 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.154C>A; p.L52M; 9:121302125-121302125 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.206G>A; p.C69Y; 9:121302920-121302920 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1000G>C; p.E334Q; 9:121318689-121318689 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1000G>C; p.E334Q; 9:121318689-121318689 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2082C>A; p.T694T; 9:121332489-121332489 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.803A>G; p.N268S; 9:121317135-121317135 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.397G>A; p.V133M; 9:121310729-121310729 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.1288C>T; p.R430C; 9:121321364-121321364 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.196+2_196+4delTGA; p.?; 9:121302169-121302171 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.196+2_196+4delTGA; p.?; 9:121302169-121302171 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.680C>A; p.P227Q; 9:121313950-121313950 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.731G>A; p.R244H; 9:121314001-121314001 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.79C>A; p.L27M; 9:121302050-121302050 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1750G>A; p.G584S; 9:121327470-121327470 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1117G>A; p.A373T; 9:121318806-121318806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.351+2T>G; p.?; 9:121303067-121303067 |
breast | carcinoma | Unknown |
c.1424T>C; p.V475A; 9:121326519-121326519 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1533C>T; p.S511S; 9:121326628-121326628 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.867G>A; p.G289G; 9:121317199-121317199 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.40G>A; p.E14K; 9:121302011-121302011 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1023C>A; p.F341L; 9:121318712-121318712 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.753+3G>A; p.?; 9:121314026-121314026 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.1223C>G; p.P408R; 9:121321299-121321299 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |