| Gene ID | 84513 |
| Symbol | PPAPDC1B |
| Synonymous | DPPL1|HTPAP |
| Full name | phosphatidic acid phosphatase type 2 domain containing 1B |
| Gene description | diacylglycerol pyrophosphate like 1|phosphatidate phosphatase PPAPDC1B|phosphatidic acid phosphatase type 2 domain-containing protein 1B |
| Cytoband | 8p11.23 |
| Gene type | protein-coding |
| Synonymous | MIM:610626; HGNC:HGNC:25026; Ensembl:ENSG00000147535; HPRD:13720; Vega:OTTHUMG00000165104 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.505G>T; p.G169W; 8:38266270-38266270 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.761A>T; p.Q254L; 8:38264478-38264478 |
liver | carcinoma | Substitution - Missense |
c.634G>T; p.D212Y; 8:38266141-38266141 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.282C>T; p.S94S; 8:38267953-38267953 |
liver | carcinoma | Substitution - coding silent |
c.198C>G; p.L66L; 8:38268447-38268447 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.427G>A; p.E143K; 8:38267303-38267303 |
skin | malignant_melanoma | Substitution - Missense |
c.427G>A; p.E143K; 8:38267303-38267303 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.685C>T; p.R229W; 8:38264554-38264554 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.157G>C; p.E53Q; 8:38268908-38268908 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.710A>T; p.D237V; 8:38264529-38264529 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.430G>T; p.G144C; 8:38267300-38267300 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.783T>G; p.C261W; 8:38264456-38264456 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.349G>C; p.D117H; 8:38267381-38267381 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.430G>A; p.G144S; 8:38267300-38267300 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.430G>A; p.G144S; 8:38267300-38267300 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.733C>A; p.Q245K; 8:38264506-38264506 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>A; p.R179S; 8:38266240-38266240 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.278C>T; p.A93V; 8:38267957-38267957 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.79A>G; p.T27A; 8:38268986-38268986 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.231T>G; p.F77L; 8:38268414-38268414 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |