| Gene ID | 5467 |
| Symbol | PPARD |
| Synonymous | FAAR|NR1C2|NUC1|NUCI|NUCII|PPARB |
| Full name | peroxisome proliferator-activated receptor delta |
| Gene description | PPAR-beta|PPAR-delta|nuclear hormone receptor 1|nuclear receptor subfamily 1 group C member 2|peroxisome proliferator-activated nuclear receptor beta/delta variant 2|peroxisome proliferator-activated receptor beta |
| Cytoband | 6p21.2 |
| Gene type | protein-coding |
| Synonymous | MIM:600409; HGNC:HGNC:9235; Ensembl:ENSG00000112033; HPRD:02679; Vega:OTTHUMG00000014567 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.952C>T; p.R318C; 6:35424653-35424653 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.637A>T; p.I213F; 6:35424338-35424338 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.835G>A; p.V279I; 6:35424536-35424536 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.774G>C; p.R258R; 6:35424475-35424475 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.1185C>G; p.L395L; 6:35425938-35425938 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.430C>T; p.R144C; 6:35423951-35423951 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.16G>C; p.E6Q; 6:35411103-35411103 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.891C>T; p.I297I; 6:35424592-35424592 |
ovary | other; neoplasm | Substitution - coding silent |
c.1220G>A; p.R407Q; 6:35425973-35425973 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.812G>A; p.S271N; 6:35424513-35424513 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.337C>T; p.R113C; 6:35421871-35421871 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.337C>T; p.R113C; 6:35421871-35421871 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.231C>T; p.C77C; 6:35420227-35420227 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.503A>G; p.Y168C; 6:35424024-35424024 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.348G>T; p.K116N; 6:35421882-35421882 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.859C>T; p.H287Y; 6:35424560-35424560 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.859C>T; p.H287Y; 6:35424560-35424560 |
prostate | carcinoma | Substitution - Missense |
c.746G>A; p.C249Y; 6:35424447-35424447 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.239A>C; p.K80T; 6:35420235-35420235 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1136G>A; p.R379H; 6:35425889-35425889 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1069C>T; p.L357L; 6:35424770-35424770 |
skin | malignant_melanoma | Substitution - coding silent |
c.727G>A; p.V243M; 6:35424428-35424428 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.439_440CG>TC; p.R147>?; 6:35423960-35423961 |
lung | carcinoma; small_cell_carcinoma | Complex |
c.431G>A; p.R144H; 6:35423952-35423952 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.298C>T; p.R100C; 6:35421832-35421832 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.438T>C; p.G146G; 6:35423959-35423959 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.237C>G; p.D79E; 6:35420233-35420233 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.836T>C; p.V279A; 6:35424537-35424537 |
skin | malignant_melanoma | Substitution - Missense |
c.979A>T; p.I327F; 6:35424680-35424680 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.190G>A; p.G64R; 6:35420186-35420186 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.190G>A; p.G64R; 6:35420186-35420186 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.303G>A; p.T101T; 6:35421837-35421837 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.961C>T; p.R321C; 6:35424662-35424662 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.961C>T; p.R321C; 6:35424662-35424662 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.724A>G; p.S242G; 6:35424425-35424425 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.709C>T; p.P237S; 6:35424410-35424410 |
skin | malignant_melanoma | Substitution - Missense |
c.296G>A; p.R99H; 6:35421830-35421830 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1106G>T; p.R369L; 6:35425859-35425859 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1314G>A; p.K438K; 6:35426067-35426067 |
breast | carcinoma | Substitution - coding silent |
c.751T>C; p.C251R; 6:35424452-35424452 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1045G>A; p.A349T; 6:35424746-35424746 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1014C>T; p.F338F; 6:35424715-35424715 |
skin | malignant_melanoma | Substitution - coding silent |
c.1030G>C; p.D344H; 6:35424731-35424731 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1030G>C; p.D344H; 6:35424731-35424731 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.696G>T; p.V232V; 6:35424397-35424397 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.222C>T; p.C74C; 6:35420218-35420218 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.548A>G; p.Y183C; 6:35424069-35424069 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1121A>G; p.Q374R; 6:35425874-35425874 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1121A>G; p.Q374R; 6:35425874-35425874 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1106G>A; p.R369Q; 6:35425859-35425859 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.210C>G; p.L70L; 6:35420206-35420206 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1053C>T; p.F351F; 6:35424754-35424754 |
skin | malignant_melanoma | Substitution - coding silent |
c.480G>A; p.L160L; 6:35424001-35424001 |
oesophagus | carcinoma | Substitution - coding silent |
c.688C>T; p.Q230*; 6:35424389-35424389 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1083G>A; p.R361R; 6:35425836-35425836 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.856G>A; p.V286M; 6:35424557-35424557 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.433T>G; p.F145V; 6:35423954-35423954 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.386G>A; p.R129H; 6:35421920-35421920 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1284G>A; p.S428S; 6:35426037-35426037 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.1284G>A; p.S428S; 6:35426037-35426037 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1284G>A; p.S428S; 6:35426037-35426037 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.773G>A; p.R258Q; 6:35424474-35424474 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.828C>T; p.N276N; 6:35424529-35424529 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.772C>T; p.R258W; 6:35424473-35424473 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.641A>T; p.H214L; 6:35424342-35424342 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.654A>C; p.T218T; 6:35424355-35424355 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.937A>C; p.T313P; 6:35424638-35424638 |
breast | carcinoma | Substitution - Missense |
c.941G>A; p.R314H; 6:35424642-35424642 |
breast | carcinoma | Substitution - Missense |
c.536C>T; p.S179F; 6:35424057-35424057 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1169C>G; p.P390R; 6:35425922-35425922 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1169C>G; p.P390R; 6:35425922-35425922 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.194C>T; p.A65V; 6:35420190-35420190 |
skin | malignant_melanoma | Substitution - Missense |
c.162G>A; p.L54L; 6:35420158-35420158 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.553G>A; p.A185T; 6:35424074-35424074 |
breast | carcinoma | Substitution - Missense |
c.860A>G; p.H287R; 6:35424561-35424561 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.307C>T; p.R103C; 6:35421841-35421841 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1208T>C; p.M403T; 6:35425961-35425961 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.338G>A; p.R113H; 6:35421872-35421872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.829G>C; p.D277H; 6:35424530-35424530 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.262G>A; p.V88I; 6:35420258-35420258 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.262G>A; p.V88I; 6:35420258-35420258 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.197C>T; p.S66L; 6:35420193-35420193 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.846C>G; p.L282L; 6:35424547-35424547 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1256G>A; p.R419Q; 6:35426009-35426009 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.819C>G; p.L273L; 6:35424520-35424520 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1276G>A; p.E426K; 6:35426029-35426029 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1276G>A; p.E426K; 6:35426029-35426029 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1076G>C; p.G359A; 6:35424777-35424777 |
urinary_tract; bladder | carcinoma | Substitution - Missense |