| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 6608 |
Name | SMO |
Synonymous | FZD11|Gx|SMOH;smoothened, frizzled family receptor;SMO;smoothened, frizzled family receptor |
Definition | frizzled family member 11|protein Gx|seven transmembrane helix receptor|smoothened homolog|smoothened, seven transmembrane spanning receptor |
Position | 7q32.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SMO | ||
PCGP somatic mutation [Top] | ||
There is no record for SMO | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1604G>T; p.W535L; 7:128637577-128637577 |
meninges | meningioma; meningothelial |
c.1234C>T; p.L412F; |
meninges | meningioma; meningothelial |
c.2177G>A; p.R726Q; 7:128639341-128639341 |
stomach | carcinoma; intestinal_adenocarcinoma |
c.983G>A; p.G328D; |
large_intestine | carcinoma; adenocarcinoma |
c.1417G>C; p.D473H; 7:128636425-128636425 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.47_48insGCT; p.L23_G24insL; 7:128616275-128616276 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1604G>T; p.W535L; 7:128637577-128637577 |
skin | carcinoma; basal_cell_carcinoma |
c.868C>A; p.R290S; 7:128632807-128632807 |
lung | carcinoma; adenocarcinoma |
c.1234C>T; p.L412F; |
meninges | meningioma; transitional |
c.2177G>A; p.R726Q; 7:128639341-128639341 |
stomach | carcinoma; intestinal_adenocarcinoma |
c.1640G>A; p.R547H; 7:128637613-128637613 |
stomach | carcinoma; intestinal_adenocarcinoma |
c.1721C>G; p.S574C; |
lung | carcinoma; small_cell_carcinoma |
c.47_48insGCT; p.L23_G24insL; 7:128616275-128616276 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable |
c.69_70insCTG; p.L23_G24insL; |
pleura | mesothelioma; biphasic |
c.1514C>G; p.P505R; |
lung | carcinoma; small_cell_carcinoma |
c.1345A>T; p.M449L; |
lung | carcinoma; small_cell_carcinoma |
c.2287C>T; p.R763*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.704C>T; p.A235V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.970G>A; p.A324T; 7:128633276-128633276 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1458C>A; p.D486E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1802C>T; p.A601V; |
pancreas | carcinoma |
c.1604G>T; p.W535L; 7:128637577-128637577 |
skin; face | carcinoma; basal_cell_carcinoma |
c.1604G>T; p.W535L; 7:128637577-128637577 |
skin; face | carcinoma; basal_cell_carcinoma |
c.1604G>T; p.W535L; 7:128637577-128637577 |
upper_aerodigestive_tract; mouth | carcinoma; basal_cell_carcinoma |
c.595C>T; p.R199W; 7:128632337-128632337 |
skin; face | carcinoma; basal_cell_carcinoma |
c.1598G>A; p.S533N; 7:128637571-128637571 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma; desmoplastic |
c.1604G>T; p.W535L; 7:128637577-128637577 |
skin | carcinoma; basal_cell_carcinoma |
c.1604G>T; p.W535L; 7:128637577-128637577 |
skin | carcinoma; basal_cell_carcinoma |
c.1685G>A; p.R562Q; 7:128638074-128638074 |
skin | carcinoma; basal_cell_carcinoma |
c.1604G>T; p.W535L; 7:128637577-128637577 |
skin; face | carcinoma; basal_cell_carcinoma |
c.1604G>T; p.W535L; 7:128637577-128637577 |
skin; face | carcinoma; basal_cell_carcinoma |
c.1604G>T; p.W535L; 7:128637577-128637577 |
upper_aerodigestive_tract; mouth | carcinoma; basal_cell_carcinoma |
c.595C>T; p.R199W; 7:128632337-128632337 |
skin; face | carcinoma; basal_cell_carcinoma |
c.203_204CC>TT; p.A68V; 7:128616431-128616432 |
skin; face | carcinoma; basal_cell_carcinoma |
c.1046_1047CC>TT; p.T349I; 7:128633352-128633353 |
skin; face | carcinoma; basal_cell_carcinoma |
c.1452_1453CC>TT; p.R485W; 7:128636460-128636461 |
skin; face | carcinoma; basal_cell_carcinoma |
c.1542_1543CC>TT; p.L515F; 7:128637515-128637516 |
skin | carcinoma; basal_cell_carcinoma |
c.2263_2264CC>TT; p.P755F; 7:128639427-128639428 |
skin | carcinoma; basal_cell_carcinoma |
c.1955C>T; p.A652V; 7:128639119-128639119 |
skin; face | carcinoma; basal_cell_carcinoma |
c.234_235CC>TT; p.(=); 7:128616462-128616463 |
skin | carcinoma; basal_cell_carcinoma |
c.1604G>T; p.W535L; 7:128637577-128637577 |
skin; arm | carcinoma; basal_cell_carcinoma |
c.1724A>T; p.K575M; 7:128638113-128638113 |
liver | carcinoma; hepatocellular_carcinoma |
c.1823A>G; p.N608S; |
kidney | carcinoma; renal_cell_carcinoma |
c.1203G>C; p.A401A; 7:128633603-128633603 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1918A>G; p.T640A; 7:128638829-128638829 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1918A>G; p.T640A; 7:128638829-128638829 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1169G>A; p.C390Y; |
oesophagus | carcinoma; adenocarcinoma |
c.2336A>G; p.E779G; |
oesophagus | carcinoma; adenocarcinoma |
c.1652+4G>T; p.?; |
liver | carcinoma; hepatocellular_carcinoma |
c.1691A>G; p.K564R; |
liver | carcinoma; hepatocellular_carcinoma |
c.1210G>A; p.V404M; 7:128633610-128633610 |
large_intestine; colon | carcinoma |
c.1210G>A; p.V404M; 7:128633610-128633610 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1210G>A; p.V404M; 7:128633610-128633610 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1918A>G; p.T640A; 7:128638829-128638829 |
large_intestine; colon | carcinoma |
c.1918A>G; p.T640A; 7:128638829-128638829 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1918A>G; p.T640A; 7:128638829-128638829 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.350G>T; p.R117L; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1802C>T; p.A601V; |
pancreas | carcinoma; ductal_carcinoma |
c.1234C>T; p.L412F; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; desmoplastic |
c.734C>G; p.T245R; |
pancreas | other; adenoma |
c.69_70insCTG; p.L23_G24insL; |
pleura | mesothelioma |
c.628G>A; p.V210M; |
lung | carcinoma; adenocarcinoma |
c.1549G>T; p.V517L; |
lung | carcinoma; adenocarcinoma |
c.1263A>T; p.R421R; |
lung | carcinoma; adenocarcinoma |
c.849C>A; p.A283A; |
lung | carcinoma; adenocarcinoma |
c.1516G>A; p.D506N; |
lung | carcinoma; adenocarcinoma |
c.970G>A; p.A324T; 7:128633276-128633276 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.970G>A; p.A324T; 7:128633276-128633276 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.48_49insCTGCTG; p.L23_G24insLL; 7:128616276-128616277 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1234C>T; p.L412F; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.970G>A; p.A324T; 7:128633276-128633276 |
biliary_tract; bile_duct | carcinoma |
c.1604G>T; p.W535L; 7:128637577-128637577 |
meninges | meningioma; meningothelial |
c.1234C>T; p.L412F; |
meninges | meningioma |
c.1234C>T; p.L412F; |
meninges | meningioma |
c.?; p.P647S; |
meninges | meningioma |
c.1604G>T; p.W535L; 7:128637577-128637577 |
meninges | meningioma |
c.1234C>T; p.L412F; |
meninges | meningioma |
c.?; p.L522V; |
meninges | meningioma |
c.1234C>T; p.L412F; |
meninges | meningioma |
c.1234C>T; p.L412F; |
meninges | meningioma |
c.1234C>T; p.L412F; |
meninges | meningioma |
c.?; p.R113Q; |
meninges | meningioma |
c.1234C>T; p.L412F; |
meninges | meningioma |
c.1732G>A; p.E578K; |
prostate | carcinoma |
c.49C>T; p.L17L; 7:128616277-128616277 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.49C>T; p.L17L; 7:128616277-128616277 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1514C>T; p.P505L; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1241T>C; p.V414A; |
lung | carcinoma; adenocarcinoma |
c.936G>T; p.L312L; |
ovary | carcinoma; serous_carcinoma |
c.1351C>A; p.R451S; |
lung | carcinoma; adenocarcinoma |
c.625G>T; p.D209Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.1640G>T; p.R547L; |
lung | carcinoma; adenocarcinoma |
c.1924G>T; p.V642L; |
lung | carcinoma; adenocarcinoma |
c.1922C>G; p.P641R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1085T>G; p.L362R; |
lung | carcinoma; adenocarcinoma |
c.517C>A; p.R173S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1901C>T; p.P634L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1397C>A; p.T466N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1191C>A; p.Y397*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1665G>A; p.Q555Q; |
breast | carcinoma |
c.756C>T; p.F252F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.790G>T; p.A264S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1724A>G; p.K575R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1302C>T; p.P434P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.879C>T; p.I293I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2160A>C; p.G720G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1597A>G; p.S533G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2076delC; p.P694fs*82; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1084C>T; p.L362L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.907C>A; p.L303I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1470T>A; p.C490*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.639C>T; p.C213C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2107C>T; p.R703*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2168A>T; p.D723V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2260G>A; p.A754T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1684C>T; p.R562W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1905G>T; p.Q635H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1597A>G; p.S533G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1203G>T; p.A401A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.868C>A; p.R290S; 7:128632807-128632807 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2076delC; p.P694fs*82; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2057C>T; p.A686V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1352G>A; p.R451H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1446C>T; p.R482R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1315G>A; p.E439K; |
breast | carcinoma |
c.703G>A; p.A235T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2302C>T; p.P768S; |
breast | carcinoma |
c.2097T>G; p.S699R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2076delC; p.P694fs*82; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1686G>A; p.R562R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1843T>C; p.S615P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1685G>A; p.R562Q; 7:128638074-128638074 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1419C>T; p.D473D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1796C>A; p.P599H; |
urinary_tract; bladder | carcinoma |
c.1623G>A; p.T541T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2051C>T; p.P684L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.734C>T; p.T245M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1210G>A; p.V404M; 7:128633610-128633610 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1045A>C; p.T349P; |
breast | carcinoma |
c.596G>A; p.R199Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.838G>T; p.G280C; |
urinary_tract; bladder | carcinoma |
c.869G>A; p.R290H; |
skin | malignant_melanoma |
c.799C>T; p.L267F; |
skin; mucosal | malignant_melanoma |
c.442C>T; p.Q148*; |
skin; scalp | carcinoma; squamous_cell_carcinoma |