Entrez Gene

Basic Information
Gene ID	11218
Name	DDX20
Synonymous	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20;DDX20;DEAD (Asp-Glu-Ala-Asp) box polypeptide 20
Definition	DEAD box protein 20\|DEAD box protein DP 103\|DEAD-box protein DP103\|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD\|SMN-interacting protein\|component of gems 3\|gemin-3\|probable ATP-dependent RNA helicase DDX20
Position	1p21.1-p13.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2141C>T; p.S714L; 1:111766565-111766565	skin	malignant_melanoma	Substitution - Missense
c.2285T>C; p.I762T; 1:111766709-111766709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2171A>T; p.K724I; 1:111766595-111766595	liver	carcinoma	Substitution - Missense
c.1907T>C; p.I636T; 1:111766331-111766331	thyroid	other; neoplasm	Substitution - Missense
c.2171A>T; p.K724I; 1:111766595-111766595	liver	carcinoma	Substitution - Missense
c.975G>A; p.L325L; 1:111761238-111761238	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1627G>A; p.E543K; 1:111766051-111766051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.562C>G; p.P188A; 1:111759565-111759565	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1627G>A; p.E543K; 1:111766051-111766051	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1627G>A; p.E543K; 1:111766051-111766051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.47C>G; p.T16S; 1:111755971-111755971	prostate	carcinoma	Substitution - Missense
c.562C>G; p.P188A; 1:111759565-111759565	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1274T>A; p.I425N; 1:111762969-111762969	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2269G>A; p.D757N; 1:111766693-111766693	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1210+3_1210+4delAA; p.?; 1:111762785-111762786	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.2229C>T; p.S743S; 1:111766653-111766653	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2229C>T; p.S743S; 1:111766653-111766653	skin	malignant_melanoma	Substitution - coding silent
c.1039C>T; p.Q347*; 1:111762272-111762272	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1846T>C; p.Y616H; 1:111766270-111766270	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1606C>G; p.L536V; 1:111766030-111766030	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1283A>C; p.K428T; 1:111762978-111762978	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1420A>C; p.K474Q; 1:111765844-111765844	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.944T>G; p.F315C; 1:111761107-111761107	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1187G>A; p.R396Q; 1:111762759-111762759	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.36A>G; p.A12A; 1:111755960-111755960	breast	carcinoma	Substitution - coding silent
c.762G>C; p.L254F; 1:111760787-111760787	breast	carcinoma	Substitution - Missense
c.502_503GG>AA; p.G168K; 1:111759505-111759506	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.251G>A; p.R84K; 1:111756175-111756175	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1450C>G; p.Q484E; 1:111765874-111765874	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1332G>C; p.L444L; 1:111765756-111765756	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1606C>T; p.L536L; 1:111766030-111766030	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1614T>C; p.C538C; 1:111766038-111766038	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1128G>A; p.E376E; 1:111762700-111762700	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1112G>A; p.R371H; 1:111762684-111762684	breast	carcinoma	Substitution - Missense
c.1607T>C; p.L536P; 1:111766031-111766031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2204G>A; p.R735Q; 1:111766628-111766628	skin	malignant_melanoma	Substitution - Missense
c.1612T>C; p.C538R; 1:111766036-111766036	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1612T>C; p.C538R; 1:111766036-111766036	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1760A>G; p.Y587C; 1:111766184-111766184	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1168T>C; p.W390R; 1:111762740-111762740	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1305T>C; p.P435P; 1:111763000-111763000	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1313-1G>A; p.?; 1:111765736-111765736	skin	malignant_melanoma	Unknown
c.1313-1G>A; p.?; 1:111765736-111765736	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1673C>A; p.T558N; 1:111766097-111766097	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.860C>T; p.P287L; 1:111761023-111761023	skin	malignant_melanoma	Substitution - Missense
c.860C>T; p.P287L; 1:111761023-111761023	skin	malignant_melanoma	Substitution - Missense
c.547A>G; p.I183V; 1:111759550-111759550	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>T; p.V185F; 1:111759556-111759556	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.547A>G; p.I183V; 1:111759550-111759550	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1051G>T; p.A351S; 1:111762284-111762284	pancreas	carcinoma	Substitution - Missense
c.1051G>T; p.A351S; 1:111762284-111762284	pancreas	carcinoma	Substitution - Missense
c.1051G>T; p.A351S; 1:111762284-111762284	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1051G>T; p.A351S; 1:111762284-111762284	pancreas	carcinoma	Substitution - Missense
c.2125G>A; p.E709K; 1:111766549-111766549	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.726_728delATC; p.S243delS; 1:111760751-111760753	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - In frame
c.875T>C; p.V292A; 1:111761038-111761038	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.24G>T; p.S8S; 1:111755948-111755948	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.24G>T; p.S8S; 1:111755948-111755948	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.24G>T; p.S8S; 1:111755948-111755948	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1291A>G; p.I431V; 1:111762986-111762986	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.24G>T; p.S8S; 1:111755948-111755948	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.422A>C; p.E141A; 1:111759425-111759425	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1906A>G; p.I636V; 1:111766330-111766330	liver	carcinoma	Substitution - Missense
c.1906A>G; p.I636V; 1:111766330-111766330	liver	carcinoma	Substitution - Missense
c.1461A>G; p.K487K; 1:111765885-111765885	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.514T>C; p.S172P; 1:111759517-111759517	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2101A>C; p.N701H; 1:111766525-111766525	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1277C>T; p.A426V; 1:111762972-111762972	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2292G>C; p.L764L; 1:111766716-111766716	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1608G>C; p.L536L; 1:111766032-111766032	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1111C>T; p.R371C; 1:111762683-111762683	skin	malignant_melanoma	Substitution - Missense
c.85G>A; p.A29T; 1:111756009-111756009	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.364G>A; p.D122N; 1:111756708-111756708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.364G>C; p.D122H; 1:111756708-111756708	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2398C>T; p.Q800*; 1:111766822-111766822	skin	malignant_melanoma	Substitution - Nonsense
c.476G>A; p.G159D; 1:111759479-111759479	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2398C>G; p.Q800E; 1:111766822-111766822	breast	carcinoma	Substitution - Missense
c.421G>T; p.E141*; 1:111759424-111759424	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1329T>C; p.G443G; 1:111765753-111765753	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.346T>C; p.F116L; 1:111756690-111756690	stomach	adenocarcinoma	Substitution - Missense
c.1162T>C; p.L388L; 1:111762734-111762734	pancreas	carcinoma	Substitution - coding silent
c.2054C>A; p.S685Y; 1:111766478-111766478	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1821G>T; p.E607D; 1:111766245-111766245	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.144C>T; p.S48S; 1:111756068-111756068	ovary	other; neoplasm	Substitution - coding silent
c.1487C>T; p.S496F; 1:111765911-111765911	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.923C>T; p.P308L; 1:111761086-111761086	skin	malignant_melanoma	Substitution - Missense
c.1322C>T; p.P441L; 1:111765746-111765746	skin	malignant_melanoma	Substitution - Missense
c.1487C>T; p.S496F; 1:111765911-111765911	urinary_tract; bladder	carcinoma	Substitution - Missense
c.163G>T; p.D55Y; 1:111756087-111756087	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.581T>A; p.L194H; 1:111760489-111760489	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2144C>A; p.P715H; 1:111766568-111766568	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2144C>A; p.P715H; 1:111766568-111766568	large_intestine; colon	carcinoma	Substitution - Missense
c.1242C>G; p.C414W; 1:111762937-111762937	skin	malignant_melanoma	Substitution - Missense
c.2292G>A; p.L764L; 1:111766716-111766716	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1209T>A; p.F403L; 1:111762781-111762781	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2079T>C; p.R693R; 1:111766503-111766503	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1926G>A; p.V642V; 1:111766350-111766350	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1926G>A; p.V642V; 1:111766350-111766350	thyroid	other; neoplasm	Substitution - coding silent
c.617G>A; p.R206H; 1:111760525-111760525	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1749C>A; p.I583I; 1:111766173-111766173	skin	malignant_melanoma	Substitution - coding silent
c.23C>T; p.S8L; 1:111755947-111755947	urinary_tract; bladder	carcinoma	Substitution - Missense
c.742G>A; p.E248K; 1:111760767-111760767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.742G>A; p.E248K; 1:111760767-111760767	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.283T>C; p.L95L; 1:111756207-111756207	thyroid	other; neoplasm	Substitution - coding silent
c.1186C>T; p.R396W; 1:111762758-111762758	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.283T>C; p.L95L; 1:111756207-111756207	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.616C>T; p.R206C; 1:111760524-111760524	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1974T>C; p.S658S; 1:111766398-111766398	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.866C>T; p.A289V; 1:111761029-111761029	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1134G>T; p.V378V; 1:111762706-111762706	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.333G>A; p.G111G; 1:111756677-111756677	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1142T>C; p.V381A; 1:111762714-111762714	breast	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]