Entrez Gene

Basic Information
Gene ID	2001
Name	ELF5

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.719G>A; p.G240E; 11:34480297-34480297	skin	malignant_melanoma	Substitution - Missense
c.639G>T; p.K213N; 11:34480834-34480834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.770C>T; p.A257V; 11:34480246-34480246	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.266_268delTCT; p.F89delF; 11:34493596-34493598	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.444T>C; p.D148D; 11:34482492-34482492	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.762A>G; p.G254G; 11:34480254-34480254	skin	malignant_melanoma	Substitution - coding silent
c.614T>G; p.V205G; 11:34480859-34480859	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.80G>A; p.C27Y; 11:34505700-34505700	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.345C>T; p.G115G; 11:34493519-34493519	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.135C>A; p.A45A; 11:34505645-34505645	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.66T>C; p.P22P; 11:34505714-34505714	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.739C>T; p.R247*; 11:34480277-34480277	central_nervous_system; brainstem	glioma; oligoastrocytoma_Grade_III	Substitution - Nonsense
c.377G>A; p.R126H; 11:34493487-34493487	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.377G>A; p.R126H; 11:34493487-34493487	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.669A>T; p.R223S; 11:34480804-34480804	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.18C>T; p.H6H; 11:34511552-34511552	skin	malignant_melanoma	Substitution - coding silent
c.227G>A; p.C76Y; 11:34493637-34493637	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.227G>A; p.C76Y; 11:34493637-34493637	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.791A>C; p.K264T; 11:34480225-34480225	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.610C>T; p.R204W; 11:34480863-34480863	skin	malignant_melanoma	Substitution - Missense
c.610C>T; p.R204W; 11:34480863-34480863	skin	malignant_melanoma	Substitution - Missense
c.584G>A; p.W195*; 11:34480889-34480889	skin	malignant_melanoma	Substitution - Nonsense
c.541G>A; p.D181N; 11:34480932-34480932	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.422C>T; p.A141V; 11:34490023-34490023	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.498T>C; p.S166S; 11:34482438-34482438	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.602G>A; p.G201E; 11:34480871-34480871	skin	malignant_melanoma	Substitution - Missense
c.595G>A; p.E199K; 11:34480878-34480878	skin	malignant_melanoma	Substitution - Missense
c.595G>A; p.E199K; 11:34480878-34480878	skin	malignant_melanoma	Substitution - Missense
c.767_768insA; p.N256fs*>11; 11:34480248-34480249	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3G>A; p.M1I; 11:34511567-34511567	skin	malignant_melanoma	Substitution - Missense
c.200G>A; p.R67H; 11:34493664-34493664	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.646G>A; p.G216R; 11:34480827-34480827	skin	malignant_melanoma	Substitution - Missense
c.775G>A; p.G259R; 11:34480241-34480241	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.8C>T; p.S3F; 11:34511562-34511562	skin	malignant_melanoma	Substitution - Missense
c.188A>G; p.Y63C; 11:34493676-34493676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.188A>G; p.Y63C; 11:34493676-34493676	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.188A>G; p.Y63C; 11:34493676-34493676	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.585G>A; p.W195*; 11:34480888-34480888	skin	malignant_melanoma	Substitution - Nonsense
c.740G>A; p.R247Q; 11:34480276-34480276	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.212A>T; p.E71V; 11:34493652-34493652	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.775delG; p.W260fs*>6; 11:34480241-34480241	ovary	carcinoma	Deletion - Frameshift
c.454T>G; p.L152V; 11:34482482-34482482	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.564A>C; p.E188D; 11:34480909-34480909	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.698T>C; p.L233P; 11:34480775-34480775	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.514A>C; p.S172R; 11:34480959-34480959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.343G>A; p.G115S; 11:34493521-34493521	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database