| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 23532 |
Name | PRAME |
Synonymous | CT130|MAPE|OIP4;preferentially expressed antigen in melanoma;PRAME;preferentially expressed antigen in melanoma |
Definition | OIP-4|Opa-interacting protein OIP4|cancer/testis antigen 130|melanoma antigen preferentially expressed in tumors|opa-interacting protein 4|preferentially expressed antigen of melanoma |
Position | 22q11.22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PRAME | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
PRAME_L383M; chr22; 22890872 |
SUB; MISSENSE; G; G/T; SOMATIC | MB; PUTATIVE-HQ; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.731G>A; p.W244*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.731G>A; p.W244*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.158_159insC; p.P55fs*8; |
NS | malignant_melanoma |
c.1166G>T; p.G389V; |
lung | carcinoma; small_cell_carcinoma |
c.1390C>T; p.H464Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.847C>T; p.Q283*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.799C>T; p.L267F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.18G>A; p.L6L; |
pancreas | carcinoma |
c.1110A>T; p.Q370H; |
large_intestine | carcinoma; adenocarcinoma |
c.447A>G; p.P149P; |
oesophagus | carcinoma; adenocarcinoma |
c.978C>T; p.T326T; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.602G>A; p.R201Q; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1041C>T; p.S347S; |
oesophagus | carcinoma; adenocarcinoma |
c.248T>C; p.L83P; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1482_1484delCTT; p.F495delF; |
lung | carcinoma; large_cell_carcinoma |
c.18G>A; p.L6L; |
pancreas | carcinoma; ductal_carcinoma |
c.148A>G; p.R50G; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934C>A; p.R312S; |
lung | carcinoma; adenocarcinoma |
c.1519A>T; p.M507L; |
lung | carcinoma; adenocarcinoma |
c.1399C>A; p.L467I; |
lung | carcinoma; adenocarcinoma |
c.1005G>A; p.S335S; |
lung | carcinoma; adenocarcinoma |
c.587T>C; p.I196T; |
skin; extremity | malignant_melanoma |
c.672G>T; p.K224N; |
autonomic_ganglia | neuroblastoma |
c.877C>A; p.L293I; |
prostate | carcinoma |
c.235A>C; p.T79P; |
lung | carcinoma; small_cell_carcinoma |
c.132C>T; p.A44A; |
lung | carcinoma; small_cell_carcinoma |
c.1147C>A; p.L383M; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.289T>G; p.F97V; |
autonomic_ganglia | neuroblastoma |
c.1428G>A; p.R476R; 22:21220591-21220591 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1323T>C; p.Y441Y; |
lung | carcinoma; adenocarcinoma |
c.987A>T; p.I329I; |
lung | carcinoma; adenocarcinoma |
c.1401C>T; p.L467L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1050G>A; p.Q350Q; |
ovary | carcinoma; serous_carcinoma |
c.1274G>C; p.S425T; |
lung | carcinoma; squamous_cell_carcinoma |
c.249G>A; p.L83L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1358G>T; p.G453V; |
lung | carcinoma; squamous_cell_carcinoma |
c.505G>A; p.E169K; |
lung | carcinoma; adenocarcinoma |
c.1315G>A; p.V439M; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1276C>G; p.L426V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.10_11AG>TT; p.R4L; |
ovary | carcinoma; serous_carcinoma |
c.1432A>T; p.S478C; |
lung | carcinoma; squamous_cell_carcinoma |
c.19T>C; p.W7R; |
lung | carcinoma; adenocarcinoma |
c.1119G>A; p.L373L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.769G>A; p.G257S; |
lung | carcinoma; squamous_cell_carcinoma |
c.844G>C; p.E282Q; |
lung | carcinoma; adenocarcinoma |
c.305A>T; p.D102V; |
lung | carcinoma; adenocarcinoma |
c.633G>A; p.K211K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.193C>A; p.H65N; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.19T>C; p.W7R; |
breast | carcinoma |
c.1269G>C; p.L423F; |
breast | carcinoma |
c.700T>G; p.S234A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1505T>G; p.L502R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.812A>G; p.H271R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.620G>A; p.R207H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1340G>A; p.S447N; |
breast | carcinoma |
c.1507T>C; p.C503R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1397G>T; p.R466M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1338G>A; p.E446E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.571T>C; p.L191L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.312T>G; p.L104L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.13C>T; p.R5C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.434C>G; p.S145*; |
breast | carcinoma |
c.19T>C; p.W7R; |
breast | carcinoma |
c.1439T>C; p.V480A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1504C>T; p.L502L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.476G>A; p.R159Q; |
breast | carcinoma |
c.780T>C; p.I260I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.19T>C; p.W7R; |
prostate | carcinoma; adenocarcinoma |
c.620G>A; p.R207H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.475C>T; p.R159*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.565G>A; p.D189N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1029C>T; p.S343S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.133C>A; p.L45M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1504C>A; p.L502M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1482_1484delCTT; p.F495delF; |
central_nervous_system; brain | glioma |
c.1180C>T; p.Q394*; |
skin | malignant_melanoma |
c.876_877ins12; p.F292_L293insTSQF; |
skin | malignant_melanoma |
c.577T>G; p.S193A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |