| Gene ID | 5764 |
| Symbol | PTN |
| Synonymous | HARP|HBGF8|HBNF|NEGF1 |
| Full name | pleiotrophin |
| Gene description | HB-GAM|HBBM|HBGF-8|HBNF-1|OSF-1|heparin affin regulatory protein|heparin binding growth factor 8|heparin-binding brain mitogen|heparin-binding growth factor 8|heparin-binding growth-associated molecule|heparin-binding neurite outgrowth-promoting factor 1| |
| Cytoband | 7q33 |
| Gene type | protein-coding |
| Synonymous | MIM:162095; HGNC:HGNC:9630; Ensembl:ENSG00000105894; HPRD:01199; Vega:OTTHUMG00000155709 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.340G>A; p.A114T; 7:137251341-137251341 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.52T>C; p.L18L; 7:137254922-137254922 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.340G>A; p.A114T; 7:137251341-137251341 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.448C>T; p.Q150*; 7:137251233-137251233 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.200G>A; p.R67Q; 7:137253553-137253553 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.66C>T; p.F22F; 7:137254908-137254908 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.124_125insA; p.V42fs*5; 7:137253628-137253629 |
stomach | adenocarcinoma | Insertion - Frameshift |
c.81G>T; p.V27V; 7:137254893-137254893 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.29G>A; p.R10H; 7:137254945-137254945 |
prostate | adenoma | Substitution - Missense |
c.200G>T; p.R67L; 7:137253553-137253553 |
skin | malignant_melanoma | Substitution - Missense |
c.393C>T; p.C131C; 7:137251288-137251288 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.388G>T; p.E130*; 7:137251293-137251293 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.458C>T; p.S153F; 7:137228069-137228069 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.131A>C; p.K44T; 7:137253622-137253622 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.131A>C; p.K44T; 7:137253622-137253622 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.131A>C; p.K44T; 7:137253622-137253622 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.131A>C; p.K44T; 7:137253622-137253622 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.131A>C; p.K44T; 7:137253622-137253622 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.131A>C; p.K44T; 7:137253622-137253622 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.425G>A; p.G142D; 7:137251256-137251256 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.288C>T; p.G96G; 7:137253465-137253465 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.288C>T; p.G96G; 7:137253465-137253465 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.454G>A; p.E152K; 7:137228073-137228073 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454G>A; p.E152K; 7:137228073-137228073 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.454G>A; p.E152K; 7:137228073-137228073 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.160G>T; p.V54L; 7:137253593-137253593 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.403G>T; p.V135F; 7:137251278-137251278 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.213G>A; p.R71R; 7:137253540-137253540 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.48C>A; p.A16A; 7:137254926-137254926 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.94G>T; p.A32S; 7:137254880-137254880 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.437A>C; p.K146T; 7:137251244-137251244 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.131A>T; p.K44M; 7:137253622-137253622 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.241A>G; p.K81E; 7:137253512-137253512 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.291G>A; p.A97A; 7:137251390-137251390 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.223G>C; p.E75Q; 7:137253530-137253530 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.223G>C; p.E75Q; 7:137253530-137253530 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.451+2T>A; p.?; 7:137251228-137251228 |
pancreas | carcinoma | Unknown |
c.272G>A; p.W91*; 7:137253481-137253481 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.167T>C; p.V56A; 7:137253586-137253586 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.258G>T; p.K86N; 7:137253495-137253495 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.471A>G; p.K157K; 7:137228056-137228056 |
pancreas | carcinoma | Substitution - coding silent |
c.388G>A; p.E130K; 7:137251293-137251293 |
skin | malignant_melanoma | Substitution - Missense |
c.388G>A; p.E130K; 7:137251293-137251293 |
breast | carcinoma | Substitution - Missense |
c.204G>C; p.E68D; 7:137253549-137253549 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.155G>C; p.W52S; 7:137253598-137253598 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.438G>T; p.K146N; 7:137251243-137251243 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.483G>A; p.K161K; 7:137228044-137228044 |
oesophagus | carcinoma | Substitution - coding silent |
c.273G>T; p.W91C; 7:137253480-137253480 |
pancreas | carcinoma | Substitution - Missense |
c.213G>T; p.R71R; 7:137253540-137253540 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.370C>T; p.R124*; 7:137251311-137251311 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.343C>T; p.L115L; 7:137251338-137251338 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.392G>T; p.C131F; 7:137251289-137251289 |
stomach | adenocarcinoma | Substitution - Missense |
c.279G>A; p.K93K; 7:137253474-137253474 |
pancreas | NS | Substitution - coding silent |
c.119A>T; p.K40I; 7:137253634-137253634 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.179G>A; p.G60E; 7:137253574-137253574 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5A>T; p.Q2L; 7:137254969-137254969 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.206G>T; p.G69V; 7:137253547-137253547 |
thyroid | carcinoma; medullary_carcinoma | Substitution - Missense |
c.211C>G; p.R71G; 7:137253542-137253542 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.230A>T; p.K77M; 7:137253523-137253523 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.290C>T; p.A97V; 7:137251391-137251391 |
pancreas | carcinoma | Substitution - Missense |
c.290C>T; p.A97V; 7:137251391-137251391 |
NS | NS | Substitution - Missense |
c.225G>A; p.E75E; 7:137253528-137253528 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.123delA; p.V42fs*1; 7:137253630-137253630 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.123delA; p.V42fs*1; 7:137253630-137253630 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.123delA; p.V42fs*1; 7:137253630-137253630 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.320G>A; p.G107E; 7:137251361-137251361 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.263C>T; p.P88L; 7:137253490-137253490 |
skin | malignant_melanoma | Substitution - Missense |
c.185G>A; p.C62Y; 7:137253568-137253568 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.246C>A; p.T82T; 7:137253507-137253507 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.322G>A; p.E108K; 7:137251359-137251359 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.149G>T; p.W50L; 7:137253604-137253604 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |