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 |
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 0.12. |
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.2051delG; p.G684fs*>20; 22:45600385-45600385 |
large_intestine; colon | carcinoma | Deletion - Frameshift |
c.1662C>T; p.F554F; 22:45550580-45550580 |
skin | malignant_melanoma | Substitution - coding silent |
c.1104G>A; p.G368G; 22:45542192-45542192 |
skin | malignant_melanoma | Substitution - coding silent |
c.998C>T; p.T333M; 22:45541304-45541304 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.149G>A; p.C50Y; 22:45518751-45518751 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1492T>C; p.C498R; 22:45548663-45548663 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.958C>T; p.P320S; 22:45541264-45541264 |
skin | malignant_melanoma | Substitution - Missense |
c.178G>T; p.E60*; 22:45518780-45518780 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1195_1195+1GG>AA; p.?; 22:45542283-45542284 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1959C>T; p.D653D; 22:45577095-45577095 |
prostate | carcinoma | Substitution - coding silent |
c.1990C>T; p.R664W; 22:45600324-45600324 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.344T>C; p.L115P; 22:45527869-45527869 |
skin | malignant_melanoma | Substitution - Missense |
c.952C>T; p.P318S; 22:45541258-45541258 |
skin | malignant_melanoma | Substitution - Missense |
c.1949G>A; p.R650H; 22:45577085-45577085 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.112G>A; p.A38T; 22:45518714-45518714 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.112G>A; p.A38T; 22:45518714-45518714 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.379G>C; p.E127Q; 22:45527904-45527904 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1080C>T; p.C360C; 22:45542168-45542168 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1679A>G; p.Y560C; 22:45550597-45550597 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1080C>T; p.C360C; 22:45542168-45542168 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1080C>T; p.C360C; 22:45542168-45542168 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.2011C>T; p.H671Y; 22:45600345-45600345 |
skin | malignant_melanoma | Substitution - Missense |
c.1147G>A; p.E383K; 22:45542235-45542235 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2080G>A; p.V694I; 22:45600414-45600414 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.185+1G>A; p.?; 22:45518788-45518788 |
central_nervous_system; brain | glioma | Unknown |
c.1241A>G; p.K414R; 22:45543446-45543446 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.953C>A; p.P318Q; 22:45541259-45541259 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.286G>A; p.G96S; 22:45525643-45525643 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1337G>T; p.S446I; 22:45547100-45547100 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1685G>A; p.R562H; 22:45550603-45550603 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.124C>T; p.R42W; 22:45518726-45518726 |
skin | malignant_melanoma | Substitution - Missense |
c.2017G>A; p.V673I; 22:45600351-45600351 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1998C>T; p.I666I; 22:45600332-45600332 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2047delG; p.G684fs*>20; 22:45600381-45600381 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1818C>G; p.F606L; 22:45574631-45574631 |
skin | malignant_melanoma | Substitution - Missense |
c.2065C>T; p.R689*; 22:45600399-45600399 |
skin | malignant_melanoma | Substitution - Nonsense |
c.745G>A; p.G249R; 22:45533859-45533859 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.626C>G; p.S209C; 22:45533144-45533144 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.941G>A; p.S314N; 22:45541247-45541247 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.358C>T; p.Q120*; 22:45527883-45527883 |
skin | malignant_melanoma | Substitution - Nonsense |
c.963C>T; p.I321I; 22:45541269-45541269 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1688C>T; p.S563F; 22:45550606-45550606 |
skin | malignant_melanoma | Substitution - Missense |
c.1961G>A; p.G654D; 22:45577097-45577097 |
thyroid | carcinoma | Substitution - Missense |
c.1659C>A; p.A553A; 22:45550577-45550577 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2047G>A; p.G683R; 22:45600381-45600381 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1441+8C>T; p.?; 22:45547212-45547212 |
pancreas | carcinoma | Unknown |
c.1562G>A; p.R521H; 22:45548733-45548733 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1562G>A; p.R521H; 22:45548733-45548733 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1562G>A; p.R521H; 22:45548733-45548733 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1136_1150del15; p.F380_C384delFRCEC; 22:45542224-45542238 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.950C>A; p.A317D; 22:45541256-45541256 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.732G>T; p.R244R; 22:45533846-45533846 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1146C>T; p.C382C; 22:45542234-45542234 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.945C>T; p.I315I; 22:45541251-45541251 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.523T>A; p.Y175N; 22:45531303-45531303 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1982G>A; p.R661H; 22:45600316-45600316 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1776C>T; p.P592P; 22:45574589-45574589 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2078A>G; p.N693S; 22:45600412-45600412 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.366G>T; p.Q122H; 22:45527891-45527891 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.366G>T; p.Q122H; 22:45527891-45527891 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1203C>T; p.N401N; 22:45543408-45543408 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.921T>C; p.I307I; 22:45535336-45535336 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1753G>A; p.D585N; 22:45574566-45574566 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1753G>A; p.D585N; 22:45574566-45574566 |
skin | malignant_melanoma | Substitution - Missense |
c.296C>A; p.A99D; 22:45525653-45525653 |
liver | carcinoma | Substitution - Missense |
c.869C>A; p.P290H; 22:45535284-45535284 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1822G>A; p.E608K; 22:45574635-45574635 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1822G>A; p.E608K; 22:45574635-45574635 |
skin | malignant_melanoma | Substitution - Missense |
c.1114C>T; p.R372C; 22:45542202-45542202 |
skin | malignant_melanoma | Substitution - Missense |
c.1855C>T; p.R619W; 22:45576991-45576991 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.683G>A; p.R228Q; 22:45533797-45533797 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1897A>G; p.I633V; 22:45577033-45577033 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.86C>T; p.A29V; 22:45518688-45518688 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1291C>T; p.R431W; 22:45543496-45543496 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1291C>T; p.R431W; 22:45543496-45543496 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1771G>A; p.D591N; 22:45574584-45574584 |
skin | malignant_melanoma | Substitution - Missense |
c.721C>T; p.R241C; 22:45533835-45533835 |
skin | malignant_melanoma | Substitution - Missense |
c.721C>T; p.R241C; 22:45533835-45533835 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1366A>G; p.N456D; 22:45547129-45547129 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1770C>G; p.F590L; 22:45574583-45574583 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010A>G; p.N337S; 22:45541316-45541316 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1000T>A; p.C334S; 22:45541306-45541306 |
pancreas | carcinoma | Substitution - Missense |
c.1959C>A; p.D653E; 22:45577095-45577095 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010A>G; p.N337S; 22:45541316-45541316 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1093G>C; p.E365Q; 22:45542181-45542181 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.826G>A; p.D276N; 22:45535241-45535241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.826G>A; p.D276N; 22:45535241-45535241 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.118G>A; p.G40R; 22:45518720-45518720 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.722G>A; p.R241H; 22:45533836-45533836 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.759G>T; p.E253D; 22:45533873-45533873 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.152C>T; p.S51L; 22:45518754-45518754 |
skin | malignant_melanoma | Substitution - Missense |
c.807T>C; p.G269G; 22:45535222-45535222 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1516C>T; p.Q506*; 22:45548687-45548687 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1782C>T; p.H594H; 22:45574595-45574595 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2049G>T; p.G683G; 22:45600383-45600383 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.450C>T; p.T150T; 22:45527975-45527975 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2056G>T; p.V686F; 22:45600390-45600390 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1330G>A; p.E444K; 22:45547093-45547093 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2015C>T; p.A672V; 22:45600349-45600349 |
skin | malignant_melanoma | Substitution - Missense |
c.451G>A; p.G151R; 22:45527976-45527976 |
skin | malignant_melanoma | Substitution - Missense |
c.1397G>A; p.R466Q; 22:45547160-45547160 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1056G>A; p.T352T; 22:45541362-45541362 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1056G>A; p.T352T; 22:45541362-45541362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1739C>T; p.S580F; 22:45574552-45574552 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>A; p.R179S; 22:45531315-45531315 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.535C>A; p.R179S; 22:45531315-45531315 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1721C>T; p.T574M; 22:45574534-45574534 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.570C>T; p.C190C; 22:45533088-45533088 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.804T>C; p.S268S; 22:45535219-45535219 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1832G>A; p.R611H; 22:45574645-45574645 |
thyroid | carcinoma | Substitution - Missense |
c.1832G>A; p.R611H; 22:45574645-45574645 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1008G>T; p.K336N; 22:45541314-45541314 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1755T>C; p.D585D; 22:45574568-45574568 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.675C>T; p.H225H; 22:45533789-45533789 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.143A>G; p.K48R; 22:45518745-45518745 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1204G>T; p.E402*; 22:45543409-45543409 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.606C>T; p.F202F; 22:45533124-45533124 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.152C>G; p.S51W; 22:45518754-45518754 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1246G>A; p.E416K; 22:45543451-45543451 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1905C>A; p.D635E; 22:45577041-45577041 |
breast | carcinoma | Substitution - Missense |
c.596G>T; p.C199F; 22:45533114-45533114 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.367G>A; p.G123S; 22:45527892-45527892 |
skin | malignant_melanoma | Substitution - Missense |
c.1574A>G; p.D525G; 22:45550492-45550492 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.282C>T; p.P94P; 22:45525639-45525639 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1119C>T; p.C373C; 22:45542207-45542207 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1119C>T; p.C373C; 22:45542207-45542207 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1764C>T; p.C588C; 22:45574577-45574577 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.378C>T; p.C126C; 22:45527903-45527903 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1455C>T; p.C485C; 22:45548626-45548626 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1455C>T; p.C485C; 22:45548626-45548626 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.421C>T; p.Q141*; 22:45527946-45527946 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1821C>T; p.R607R; 22:45574634-45574634 |
lung | carcinoid-endocrine_tumour; typical | Substitution - coding silent |
c.1430T>C; p.V477A; 22:45547193-45547193 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.466G>A; p.G156R; 22:45527991-45527991 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |