| Gene ID | 5144 |
| Symbol | PDE4D |
| Synonymous | ACRDYS2|DPDE3|HSPDE4D|PDE43|PDE4DN2|STRK1 |
| Full name | phosphodiesterase 4D, cAMP-specific |
| Gene description | cAMP-specific 3',5'-cyclic phosphodiesterase 4D|cAMP-specific phosphodiesterase PDE4D6|phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila) |
| Cytoband | 5q12 |
| Gene type | protein-coding |
| Synonymous | MIM:600129; HGNC:HGNC:8783; Ensembl:ENSG00000113448; HPRD:02530; Vega:OTTHUMG00000162218 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.212C>T; p.S71F; 5:59215804-59215804 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1779T>G; p.G593G; 5:58974907-58974907 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1859T>G; p.V620G; 5:58974827-58974827 |
breast | carcinoma | Substitution - Missense |
c.1360G>A; p.E454K; 5:58976412-58976412 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1487G>A; p.R496H; 5:58975775-58975775 |
breast | carcinoma | Substitution - Missense |
c.740G>T; p.R247M; 5:58991872-58991872 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1477C>T; p.Q493*; 5:58975785-58975785 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1552A>G; p.M518V; 5:58975710-58975710 |
liver | carcinoma | Substitution - Missense |
c.1916C>A; p.S639Y; 5:58974770-58974770 |
kidney | other; neoplasm | Substitution - Missense |
c.293G>A; p.R98Q; 5:59185246-59185246 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.293G>A; p.R98Q; 5:59185246-59185246 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.542C>A; p.T181N; 5:58993437-58993437 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.753A>C; p.K251N; 5:58991859-58991859 |
skin | malignant_melanoma | Substitution - Missense |
c.308A>T; p.N103I; 5:59185231-59185231 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.85C>T; p.P29S; 5:59215931-59215931 |
skin | malignant_melanoma | Substitution - Missense |
c.1286T>G; p.M429R; 5:58977204-58977204 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.165C>T; p.F55F; 5:59215851-59215851 |
skin | malignant_melanoma | Substitution - coding silent |
c.497A>G; p.E166G; 5:59038875-59038875 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.79C>T; p.R27W; 5:59215937-59215937 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1496C>T; p.T499M; 5:58975766-58975766 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.931T>C; p.Y311H; 5:58989868-58989868 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1496C>T; p.T499M; 5:58975766-58975766 |
breast | carcinoma | Substitution - Missense |
c.1573G>A; p.D525N; 5:58975689-58975689 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1476C>T; p.L492L; 5:58975786-58975786 |
skin | malignant_melanoma | Substitution - coding silent |
c.98T>C; p.M33T; 5:59215918-59215918 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.702G>T; p.L234F; 5:58991910-58991910 |
skin | malignant_melanoma | Substitution - Missense |
c.1813G>C; p.E605Q; 5:58974873-58974873 |
breast | carcinoma | Substitution - Missense |
c.113C>T; p.S38F; 5:59215903-59215903 |
skin | malignant_melanoma | Substitution - Missense |
c.1186G>C; p.E396Q; 5:58977304-58977304 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1289T>C; p.V430A; 5:58977201-58977201 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1246C>G; p.Q416E; 5:58977244-58977244 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.504C>T; p.A168A; 5:59038868-59038868 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.553G>A; p.E185K; 5:58993426-58993426 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527T>C; p.L176P; 5:58993452-58993452 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1290C>A; p.V430V; 5:58977200-58977200 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.883C>T; p.R295W; 5:58989916-58989916 |
breast | carcinoma | Substitution - Missense |
c.883C>T; p.R295W; 5:58989916-58989916 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1409C>T; p.S470F; 5:58976363-58976363 |
skin | malignant_melanoma | Substitution - Missense |
c.1703A>G; p.N568S; 5:58974983-58974983 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.244G>A; p.G82R; 5:59193532-59193532 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1512G>T; p.E504D; 5:58975750-58975750 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1706G>A; p.R569H; 5:58974980-58974980 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1396_1398delCTT; p.L466delL; 5:58976374-58976376 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.603C>A; p.F201L; 5:58993376-58993376 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.183C>T; p.S61S; 5:59215833-59215833 |
thyroid | carcinoma | Substitution - coding silent |
c.1579C>A; p.H527N; 5:58975683-58975683 |
liver | carcinoma | Substitution - Missense |
c.1868A>T; p.D623V; 5:58974818-58974818 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1868A>T; p.D623V; 5:58974818-58974818 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1868A>T; p.D623V; 5:58974818-58974818 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1045-1G>A; p.?; 5:58988593-58988593 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.1964A>G; p.E655G; 5:58974722-58974722 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.702G>C; p.L234F; 5:58991910-58991910 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.239+7A>G; p.?; 5:59215770-59215770 |
pancreas | carcinoma | Unknown |
c.239+7A>G; p.?; 5:59215770-59215770 |
pancreas | carcinoma | Unknown |
c.239+7A>G; p.?; 5:59215770-59215770 |
pancreas | carcinoma | Unknown |
c.1437G>T; p.M479I; 5:58975825-58975825 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.988C>A; p.H330N; 5:58989811-58989811 |
liver | carcinoma | Substitution - Missense |
c.988C>A; p.H330N; 5:58989811-58989811 |
liver | carcinoma | Substitution - Missense |
c.494G>A; p.S165N; 5:59038878-59038878 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1827G>T; p.E609D; 5:58974859-58974859 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1050G>C; p.V350V; 5:58988587-58988587 |
pancreas | carcinoma | Substitution - coding silent |
c.239T>C; p.I80T; 5:59215777-59215777 |
breast | carcinoma | Substitution - Missense |
c.55G>A; p.V19M; 5:59215961-59215961 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1864G>A; p.E622K; 5:58974822-58974822 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.172C>T; p.R58*; 5:59215844-59215844 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.649delG; p.E217fs*18; 5:58991963-58991963 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.771C>T; p.V257V; 5:58991841-58991841 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1410C>T; p.S470S; 5:58976362-58976362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.295A>G; p.T99A; 5:59185244-59185244 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.330G>T; p.L110F; 5:59185209-59185209 |
liver | carcinoma | Substitution - Missense |
c.1927C>T; p.P643S; 5:58974759-58974759 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.488C>A; p.S163Y; 5:59038884-59038884 |
breast | carcinoma | Substitution - Missense |
c.1283A>G; p.K428R; 5:58977207-58977207 |
breast | carcinoma | Substitution - Missense |
c.1926T>C; p.I642I; 5:58974760-58974760 |
breast | carcinoma | Substitution - coding silent |
c.22C>T; p.P8S; 5:59586354-59586354 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.912A>T; p.P304P; 5:58989887-58989887 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.175T>A; p.S59T; 5:59215841-59215841 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1914G>A; p.E638E; 5:58974772-58974772 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1502G>A; p.R501Q; 5:58975760-58975760 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.121A>G; p.I41V; 5:59215895-59215895 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1505T>A; p.I502K; 5:58975757-58975757 |
skin | malignant_melanoma | Substitution - Missense |
c.781-1G>T; p.?; 5:58990903-58990903 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.679C>G; p.Q227E; 5:58991933-58991933 |
oesophagus | carcinoma | Substitution - Missense |
c.821G>C; p.R274T; 5:58990862-58990862 |
liver | carcinoma | Substitution - Missense |
c.880-8_880-7insT; p.?; 5:58989926-58989927 |
liver | carcinoma | Unknown |
c.1880G>C; p.S627T; 5:58974806-58974806 |
pancreas | other; adenoma | Substitution - Missense |
c.1591G>A; p.V531M; 5:58975671-58975671 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.178G>A; p.D60N; 5:59215838-59215838 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.1411G>A; p.D471N; 5:58976361-58976361 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1604A>T; p.Q535L; 5:58975658-58975658 |
kidney | other; neoplasm | Substitution - Missense |
c.245G>A; p.G82E; 5:59193531-59193531 |
skin | malignant_melanoma | Substitution - Missense |
c.162C>T; p.S54S; 5:59215854-59215854 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1916C>G; p.S639C; 5:58974770-58974770 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1865A>C; p.E622A; 5:58974821-58974821 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.302G>A; p.R101Q; 5:59185237-59185237 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.302G>A; p.R101Q; 5:59185237-59185237 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1732C>T; p.Q578*; 5:58974954-58974954 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1471C>T; p.P491S; 5:58975791-58975791 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1660G>T; p.V554F; 5:58975026-58975026 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1878C>T; p.C626C; 5:58974808-58974808 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1323delA; p.K441fs*3; 5:58976449-58976449 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.562C>T; p.R188W; 5:58993417-58993417 |
skin | malignant_melanoma | Substitution - Missense |