| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 161742 |
Name | SPRED1 |
Synonymous | NFLS;sprouty-related, EVH1 domain containing 1;SPRED1;sprouty-related, EVH1 domain containing 1 |
Definition | EVH1/Sprouty domain containing protein|hSpred1|spred-1|sprouty-related, EVH1 domain-containing protein 1|suppressor of Ras/MAPK activation |
Position | 15q14 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
SPRED1_Q104*; chr15; 38614544 |
SUB; NONSENSE; C; C/T; GERMLINE | HYPO; PUTATIVE-HQ; |
SPRED1_Q104*; chr15; 38614544 |
SUB; NONSENSE; C; C/T; GERMLINE | HYPO; PUTATIVE-HQ; EXOME |
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
SPRED1_Q104*; chr15; 38614544 |
SUB; NONSENSE; C; C/T; SOMATIC | HYPO; VALID; |
SPRED1_Q104*; chr15; 38614544 |
SUB; NONSENSE; C; C/T; SOMATIC | HYPO; VALID; EXOME |
SPRED1_E7_UTR_3; chr15; 38643896 |
SUB; UTR_3; C; C/T; SOMATIC | MB; VALID; WGS |
SPRED1_Y420*; chr15; 38643790 |
SUB; NONSENSE; C; C/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.878T>A; p.L293Q; |
liver | carcinoma; hepatocellular_carcinoma |
c.686T>C; p.V229A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.863A>C; p.K288T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.818G>T; p.R273I; |
lung | carcinoma; adenocarcinoma |
c.982G>T; p.E328*; |
lung | carcinoma; adenocarcinoma |
c.148C>T; p.Q50*; |
skin; hand | malignant_melanoma |
c.959_966delTTAAGAAG; p.K322fs*7; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.80C>G; p.S27*; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.473A>C; p.Q158P; |
lung | carcinoma; adenocarcinoma |
c.1122C>T; p.S374S; |
lung | carcinoma; adenocarcinoma |
c.1304G>T; p.C435F; |
lung | carcinoma; adenocarcinoma |
c.303_304insA; p.T102fs*7; |
skin; face | malignant_melanoma |
c.124G>A; p.V42I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.821A>C; p.D274A; 15:36430643-36430643 |
ovary | carcinoma; serous_carcinoma |
c.738C>G; p.V246V; 15:36430560-36430560 |
ovary | carcinoma; serous_carcinoma |
c.322G>A; p.D108N; |
lung | carcinoma; squamous_cell_carcinoma |
c.71G>C; p.R24P; |
lung | carcinoma; squamous_cell_carcinoma |
c.47G>T; p.R16L; |
lung | carcinoma; adenocarcinoma |
c.550A>G; p.R184G; |
lung; left_upper_lobe | carcinoma; adenocarcinoma |
c.1053A>C; p.K351N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.151G>T; p.E51*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1188C>T; p.S396S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.966G>A; p.K322K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1121G>T; p.S374I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.161G>A; p.G54D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.350G>A; p.R117Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.110G>A; p.S37N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.430G>T; p.E144*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.591T>C; p.F197F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.71G>A; p.R24Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.71G>A; p.R24Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.781T>C; p.Y261H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.395A>G; p.N132S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.201C>G; p.D67E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.440C>A; p.S147Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1283G>A; p.R428H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.337G>A; p.D113N; |
breast | carcinoma |
c.582+1G>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.123C>T; p.S41S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.182G>A; p.R61H; |
breast | carcinoma |
c.279G>C; p.K93N; |
breast | carcinoma |
c.53G>A; p.R18Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.185G>A; p.G62E; |
urinary_tract; bladder | carcinoma |
c.1188_1190delCGA; p.D398delD; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.821A>G; p.D274G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1117G>A; p.E373K; |
urinary_tract; bladder | carcinoma |
c.633C>T; p.Y211Y; |
prostate | carcinoma |
c.1093C>T; p.Q365*; |
skin | malignant_melanoma |
c.1057C>T; p.Q353*; |
skin | malignant_melanoma |
c.613C>T; p.Q205*; |
skin | malignant_melanoma |
c.766C>T; p.R256C; |
stomach | adenocarcinoma |