| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 23467 |
Name | NPTXR |
Synonymous | neuronal pentraxin receptor;NPTXR;neuronal pentraxin receptor |
Definition | - |
Position | 22q13.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.727C>G; p.L243V; 22:38828410-38828410 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.523_524insC; p.R175fs*106; 22:38843335-38843336 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.1334A>G; p.Q445R; 22:38822778-38822778 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1034A>C; p.Q345P; 22:38826564-38826564 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1454G>A; p.G485D; 22:38822658-38822658 |
breast | carcinoma | Substitution - Missense |
c.901C>T; p.R301C; 22:38826697-38826697 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1027C>T; p.P343S; 22:38826571-38826571 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1196G>A; p.G399E; 22:38823165-38823165 |
skin | malignant_melanoma | Substitution - Missense |
c.1105C>T; p.Q369*; 22:38823256-38823256 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1196G>T; p.G399V; 22:38823165-38823165 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1167G>A; p.R389R; 22:38823194-38823194 |
breast | carcinoma | Substitution - coding silent |
c.803A>G; p.E268G; 22:38828334-38828334 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.442C>T; p.Q148*; 22:38843417-38843417 |
liver | carcinoma | Substitution - Nonsense |
c.1057G>T; p.E353*; 22:38826541-38826541 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1198G>A; p.E400K; 22:38823163-38823163 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.702G>A; p.K234K; 22:38828435-38828435 |
skin | malignant_melanoma | Substitution - coding silent |
c.1197G>A; p.G399G; 22:38823164-38823164 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1031G>A; p.G344E; 22:38826567-38826567 |
skin | malignant_melanoma | Substitution - Missense |
c.791G>A; p.R264K; 22:38828346-38828346 |
skin | malignant_melanoma | Substitution - Missense |
c.1242C>G; p.I414M; 22:38823119-38823119 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.705G>A; p.M235I; 22:38828432-38828432 |
skin | malignant_melanoma | Substitution - Missense |
c.1254G>A; p.G418G; 22:38823107-38823107 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1042G>A; p.E348K; 22:38826556-38826556 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1042G>A; p.E348K; 22:38826556-38826556 |
skin | malignant_melanoma | Substitution - Missense |
c.1042G>A; p.E348K; 22:38826556-38826556 |
skin | malignant_melanoma | Substitution - Missense |
c.1042G>A; p.E348K; 22:38826556-38826556 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1375C>A; p.L459M; 22:38822737-38822737 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.855C>T; p.S285S; 22:38826743-38826743 |
skin | malignant_melanoma | Substitution - coding silent |
c.1211C>T; p.S404F; 22:38823150-38823150 |
skin | malignant_melanoma | Substitution - Missense |
c.1374C>T; p.V458V; 22:38822738-38822738 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1385C>T; p.A462V; 22:38822727-38822727 |
liver | carcinoma | Substitution - Missense |
c.1195G>A; p.G399R; 22:38823166-38823166 |
skin | malignant_melanoma | Substitution - Missense |
c.1160C>T; p.T387I; 22:38823201-38823201 |
skin | malignant_melanoma | Substitution - Missense |
c.319delG; p.A107fs*109; 22:38843540-38843540 |
prostate | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1474G>A; p.D492N; 22:38822638-38822638 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.908A>G; p.N303S; 22:38826690-38826690 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1421C>T; p.P474L; 22:38822691-38822691 |
skin | malignant_melanoma | Substitution - Missense |
c.1321G>A; p.G441S; 22:38822791-38822791 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1354G>A; p.A452T; 22:38822758-38822758 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1073C>T; p.P358L; 22:38826525-38826525 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1497G>C; p.K499N; 22:38822615-38822615 |
ovary | other; neoplasm | Substitution - Missense |
c.1497G>C; p.K499N; 22:38822615-38822615 |
ovary | other; neoplasm | Substitution - Missense |
c.918C>T; p.Y306Y; 22:38826680-38826680 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.850+1G>T; p.?; 22:38828286-38828286 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.838G>A; p.E280K; 22:38828299-38828299 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.829C>T; p.R277C; 22:38828308-38828308 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.961G>A; p.A321T; 22:38826637-38826637 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.980C>T; p.S327F; 22:38826618-38826618 |
NS | malignant_melanoma | Substitution - Missense |
c.980C>T; p.S327F; 22:38826618-38826618 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.980C>T; p.S327F; 22:38826618-38826618 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.848A>G; p.H283R; 22:38828289-38828289 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.929G>A; p.R310Q; 22:38826669-38826669 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1276C>A; p.Q426K; 22:38823085-38823085 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1243A>G; p.K415E; 22:38823118-38823118 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1058A>G; p.E353G; 22:38826540-38826540 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.757C>T; p.R253C; 22:38828380-38828380 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1127A>T; p.D376V; 22:38823234-38823234 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1190A>G; p.Q397R; 22:38823171-38823171 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.976C>T; p.R326W; 22:38826622-38826622 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.976C>T; p.R326W; 22:38826622-38826622 |
prostate | carcinoma | Substitution - Missense |
c.1359G>C; p.L453L; 22:38822753-38822753 |
breast | carcinoma | Substitution - coding silent |
c.925G>A; p.V309M; 22:38826673-38826673 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1313C>T; p.A438V; 22:38822799-38822799 |
skin | malignant_melanoma | Substitution - Missense |
c.1249C>T; p.H417Y; 22:38823112-38823112 |
skin | malignant_melanoma | Substitution - Missense |
c.857C>A; p.S286*; 22:38826741-38826741 |
breast | carcinoma | Substitution - Nonsense |
c.756G>A; p.E252E; 22:38828381-38828381 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.781C>T; p.R261C; 22:38828356-38828356 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1473C>T; p.F491F; 22:38822639-38822639 |
skin | malignant_melanoma | Substitution - coding silent |
c.1473C>T; p.F491F; 22:38822639-38822639 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1473C>T; p.F491F; 22:38822639-38822639 |
skin | malignant_melanoma | Substitution - coding silent |
c.871C>T; p.P291S; 22:38826727-38826727 |
skin | malignant_melanoma | Substitution - Missense |
c.991G>T; p.G331C; 22:38826607-38826607 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.687C>T; p.T229T; 22:38828450-38828450 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.934G>A; p.A312T; 22:38826664-38826664 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1066C>T; p.H356Y; 22:38826532-38826532 |
skin | malignant_melanoma | Substitution - Missense |
c.177G>C; p.L59L; 22:38843682-38843682 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1419T>C; p.L473L; 22:38822693-38822693 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.464C>T; p.T155I; 22:38843395-38843395 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1293C>T; p.G431G; 22:38822819-38822819 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |