| Gene ID | 5047 |
| Symbol | PAEP |
| Synonymous | GD|GdA|GdF|GdS|PAEG|PEP|PP14 |
| Full name | progestagen-associated endometrial protein |
| Gene description | PEG|PP14 protein (placental protein 14)|alpha uterine protein|glycodelin|glycodelin-A|glycodelin-F|glycodelin-S|placental protein 14|pregnancy-associated endometrial alpha-2 globulin|pregnancy-associated endometrial alpha-2-globulin|progestagen-associated |
| Cytoband | 9q34 |
| Gene type | protein-coding |
| Synonymous | MIM:173310; HGNC:HGNC:8573; Ensembl:ENSG00000122133; HPRD:01411; Vega:OTTHUMG00000020914 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.107C>T; p.T36I; 9:135562304-135562304 |
skin | malignant_melanoma | Substitution - Missense |
c.51G>T; p.P17P; 9:135561852-135561852 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.267C>T; p.V89V; 9:135562850-135562850 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.267C>T; p.V89V; 9:135562850-135562850 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.285G>A; p.E95E; 9:135562868-135562868 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.273A>G; p.G91G; 9:135562856-135562856 |
breast | carcinoma | Substitution - coding silent |
c.376C>A; p.Q126K; 9:135564309-135564309 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.376C>A; p.Q126K; 9:135564309-135564309 |
breast | carcinoma | Substitution - Missense |
c.222C>A; p.I74I; 9:135562419-135562419 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - coding silent |
c.442G>A; p.D148N; 9:135565430-135565430 |
skin | malignant_melanoma | Substitution - Missense |
c.129G>A; p.A43A; 9:135562326-135562326 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.314C>T; p.T105M; 9:135564247-135564247 |
breast | carcinoma | Substitution - Missense |
c.321G>A; p.A107A; 9:135564254-135564254 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.72C>A; p.T24T; 9:135561873-135561873 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.415T>C; p.Y139H; 9:135564348-135564348 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.256G>C; p.E86Q; 9:135562839-135562839 |
breast | carcinoma | Substitution - Missense |
c.350A>G; p.Y117C; 9:135564283-135564283 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.480C>T; p.P160P; 9:135565468-135565468 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.519G>A; p.Q173Q; 9:135565507-135565507 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.417C>G; p.Y139*; 9:135564350-135564350 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Nonsense |
c.267_268CC>AA; p.V89>?; 9:135562850-135562851 |
lung | carcinoma; small_cell_carcinoma | Complex |
c.207G>A; p.E69E; 9:135562404-135562404 |
skin | malignant_melanoma | Substitution - coding silent |
c.114C>T; p.H38H; 9:135562311-135562311 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.246C>A; p.N82K; 9:135562829-135562829 |
prostate | carcinoma | Substitution - Missense |
c.490C>A; p.H164N; 9:135565478-135565478 |
skin | malignant_melanoma | Substitution - Missense |
c.523G>A; p.E175K; 9:135565511-135565511 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.287A>G; p.N96S; 9:135562870-135562870 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.104G>A; p.G35E; 9:135562301-135562301 |
NS | malignant_melanoma | Substitution - Missense |
c.478C>T; p.P160S; 9:135565466-135565466 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.536G>A; p.R179H; 9:135565794-135565794 |
pancreas | carcinoma | Substitution - Missense |
c.536G>A; p.R179H; 9:135565794-135565794 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |