lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	1997
Symbol	ELF1
Synonymous	-
Full name	E74-like factor 1 (ets domain transcription factor)
Gene description	ETS-related transcription factor Elf-1
Cytoband	13q13
Gene type	protein-coding
Synonymous	MIM:189973; HGNC:HGNC:3316; Ensembl:ENSG00000120690; HPRD:01808; Vega:OTTHUMG00000016783

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1811C>G; p.S604C; 13:40933474-40933474	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.173A>G; p.N58S; 13:40958916-40958916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1369C>T; p.P457S; 13:40933916-40933916	skin	malignant_melanoma	Substitution - Missense
c.122G>T; p.G41V; 13:40958967-40958967	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.460C>T; p.Q154*; 13:40949875-40949875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Nonsense
c.1514A>T; p.Q505L; 13:40933771-40933771	kidney	other; neoplasm	Substitution - Missense
c.1027A>T; p.T343S; 13:40941150-40941150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1027A>T; p.T343S; 13:40941150-40941150	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.500C>A; p.S167*; 13:40949835-40949835	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1515G>T; p.Q505H; 13:40933770-40933770	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1132T>A; p.Y378N; 13:40941045-40941045	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.100G>A; p.V34I; 13:40958989-40958989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.307G>A; p.E103K; 13:40951383-40951383	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.68G>A; p.R23Q; 13:40981987-40981987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.962C>T; p.S321L; 13:40941215-40941215	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.962C>T; p.S321L; 13:40941215-40941215	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1242C>G; p.S414S; 13:40940935-40940935	breast	carcinoma	Substitution - coding silent
c.673C>G; p.P225A; 13:40943085-40943085	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.461A>T; p.Q154L; 13:40949874-40949874	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.674C>A; p.P225H; 13:40943084-40943084	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1094C>G; p.S365*; 13:40941083-40941083	breast	carcinoma	Substitution - Nonsense
c.986C>T; p.S329L; 13:40941191-40941191	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.937C>T; p.P313S; 13:40941240-40941240	large_intestine; colon	NS	Substitution - Missense
c.52G>A; p.V18I; 13:40982003-40982003	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.52G>A; p.V18I; 13:40982003-40982003	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1085C>T; p.A362V; 13:40941092-40941092	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.52G>A; p.V18I; 13:40982003-40982003	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.600_603delCAAA; p.N200fs*59; 13:40943852-40943855	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.1006G>T; p.G336W; 13:40941171-40941171	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.337C>T; p.P113S; 13:40951353-40951353	skin	malignant_melanoma	Substitution - Missense
c.148G>A; p.G50S; 13:40958941-40958941	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.883G>T; p.D295Y; 13:40941294-40941294	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.654C>A; p.L218L; 13:40943104-40943104	breast	carcinoma	Substitution - coding silent
c.1834G>A; p.E612K; 13:40933451-40933451	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1189G>A; p.E397K; 13:40940988-40940988	skin	malignant_melanoma	Substitution - Missense
c.1189G>A; p.E397K; 13:40940988-40940988	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.289G>T; p.E97*; 13:40951401-40951401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1021G>T; p.A341S; 13:40941156-40941156	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1021G>T; p.A341S; 13:40941156-40941156	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.170C>G; p.P57R; 13:40958919-40958919	skin	malignant_melanoma	Substitution - Missense
c.1021G>T; p.A341S; 13:40941156-40941156	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1349_1350delCA; p.T450fs*60; 13:40933935-40933936	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.946T>C; p.S316P; 13:40941231-40941231	skin; trunk	malignant_melanoma	Substitution - Missense
c.1293G>A; p.V431V; 13:40933992-40933992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.691A>C; p.T231P; 13:40943067-40943067	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.93delT; p.P32fs*3; 13:40958996-40958996	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1532A>G; p.N511S; 13:40933753-40933753	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.976A>C; p.T326P; 13:40941201-40941201	thyroid	other; neoplasm	Substitution - Missense
c.896_897delTA; p.I299fs*2; 13:40941280-40941281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - Frameshift
c.896_897delTA; p.I299fs*2; 13:40941280-40941281	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742A>G; p.N581S; 13:40933543-40933543	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1687A>G; p.K563E; 13:40933598-40933598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1160A>G; p.H387R; 13:40941017-40941017	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.528delA; p.G177fs*20; 13:40949807-40949807	NS	malignant_melanoma	Deletion - Frameshift
c.528delA; p.G177fs*20; 13:40949807-40949807	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1561A>G; p.S521G; 13:40933724-40933724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1561A>G; p.S521G; 13:40933724-40933724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1151G>A; p.R384Q; 13:40941026-40941026	liver	carcinoma	Substitution - Missense
c.551G>T; p.R184L; 13:40943904-40943904	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1131A>G; p.P377P; 13:40941046-40941046	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1627C>T; p.Q543*; 13:40933658-40933658	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1131A>G; p.P377P; 13:40941046-40941046	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1003C>T; p.P335S; 13:40941174-40941174	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.898A>C; p.N300H; 13:40941279-40941279	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.945A>G; p.L315L; 13:40941232-40941232	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.850C>T; p.R284C; 13:40941327-40941327	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.850C>T; p.R284C; 13:40941327-40941327	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.945A>G; p.L315L; 13:40941232-40941232	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.472G>T; p.E158*; 13:40949863-40949863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1004C>T; p.P335L; 13:40941173-40941173	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1355T>C; p.I452T; 13:40933930-40933930	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.82C>T; p.P28S; 13:40959007-40959007	NS	NS	Substitution - Missense
c.862C>T; p.Q288*; 13:40941315-40941315	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.835A>T; p.K279*; 13:40941342-40941342	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.82C>A; p.P28T; 13:40959007-40959007	oesophagus	carcinoma	Substitution - Missense
c.806+2T>C; p.?; 13:40942950-40942950	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1372T>C; p.S458P; 13:40933913-40933913	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1472C>T; p.A491V; 13:40933813-40933813	large_intestine; colon	NS	Substitution - Missense
c.133C>A; p.L45I; 13:40958956-40958956	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1248G>C; p.Q416H; 13:40940929-40940929	breast	carcinoma	Substitution - Missense
c.756G>A; p.K252K; 13:40943002-40943002	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.740C>T; p.S247F; 13:40943018-40943018	breast	carcinoma	Substitution - Missense
c.151C>G; p.L51V; 13:40958938-40958938	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1459C>T; p.Q487*; 13:40933826-40933826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.151C>G; p.L51V; 13:40958938-40958938	breast	carcinoma	Substitution - Missense
c.533G>T; p.R178I; 13:40943922-40943922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1322T>C; p.V441A; 13:40933963-40933963	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1182T>A; p.A394A; 13:40940995-40940995	skin	malignant_melanoma	Substitution - coding silent
c.1460A>T; p.Q487L; 13:40933825-40933825	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1019G>T; p.G340V; 13:40941158-40941158	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1460A>T; p.Q487L; 13:40933825-40933825	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.793G>A; p.G265R; 13:40942965-40942965	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.48T>C; p.S16S; 13:40982007-40982007	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1025C>T; p.T342I; 13:40941152-40941152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.133C>T; p.L45F; 13:40958956-40958956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1701G>T; p.Q567H; 13:40933584-40933584	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1203T>C; p.A401A; 13:40940974-40940974	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1394A>C; p.K465T; 13:40933891-40933891	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1242C>A; p.S414S; 13:40940935-40940935	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1135_1136CC>TT; p.P379F; 13:40941041-40941042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1402T>G; p.L468V; 13:40933883-40933883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1619G>A; p.R540H; 13:40933666-40933666	pancreas	carcinoma	Substitution - Missense
c.584C>T; p.S195F; 13:40943871-40943871	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1817T>A; p.V606E; 13:40933468-40933468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.584C>T; p.S195F; 13:40943871-40943871	urinary_tract; bladder	carcinoma	Substitution - Missense
c.727T>G; p.S243A; 13:40943031-40943031	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable	Substitution - Missense
c.614-1G>A; p.?; 13:40943145-40943145	skin; trunk	malignant_melanoma	Unknown
c.1262T>A; p.I421K; 13:40934023-40934023	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.798A>G; p.R266R; 13:40942960-40942960	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.62A>G; p.D21G; 13:40981993-40981993	prostate	carcinoma	Substitution - Missense
c.179T>C; p.M60T; 13:40958910-40958910	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.983G>A; p.R328Q; 13:40941194-40941194	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.101_102insT; p.I35fs*9; 13:40958987-40958988	breast	carcinoma	Insertion - Frameshift
c.1465C>T; p.Q489*; 13:40933820-40933820	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1685C>G; p.T562R; 13:40933600-40933600	breast	carcinoma	Substitution - Missense
c.24C>T; p.N8N; 13:40982031-40982031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.147C>T; p.A49A; 13:40958942-40958942	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.807-1_807GG>TC; p.?; 13:40941370-40941371	lung	carcinoma; adenocarcinoma	Unknown
c.1537C>G; p.Q513E; 13:40933748-40933748	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.624T>G; p.I208M; 13:40943134-40943134	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1469delA; p.K490fs*46; 13:40933816-40933816	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.624T>G; p.I208M; 13:40943134-40943134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.360A>T; p.I120I; 13:40951330-40951330	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.665_666insAAGGC; p.T223fs*39; 13:40943092-40943093	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1238C>A; p.S413Y; 13:40940939-40940939	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation