Entrez Gene

Basic Information
Gene ID	4790
Name	NFKB1
Synonymous	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1;NFKB1;nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
Definition	DNA binding factor KBF1\|DNA-binding factor KBF1\|NF-kappabeta\|nuclear factor NF-kappa-B p105 subunit\|nuclear factor NF-kappa-B p50 subunit\|nuclear factor kappa-B DNA binding subunit
Position	4q24
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.07.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1813G>A; p.A605T; 4:102606556-102606556	liver	carcinoma	Substitution - Missense
c.1813G>A; p.A605T; 4:102606556-102606556	liver	carcinoma	Substitution - Missense
c.40-1G>A; p.?; 4:102529835-102529835	breast	carcinoma; ductal_carcinoma	Unknown
c.923G>T; p.R308I; 4:102582953-102582953	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.474G>A; p.M158I; 4:102576942-102576942	liver	carcinoma	Substitution - Missense
c.474G>A; p.M158I; 4:102576942-102576942	liver	carcinoma	Substitution - Missense
c.192C>T; p.G64G; 4:102537890-102537890	skin	malignant_melanoma	Substitution - coding silent
c.574C>T; p.R192W; 4:102578883-102578883	breast	carcinoma	Substitution - Missense
c.506G>A; p.G169E; 4:102576974-102576974	skin	malignant_melanoma	Substitution - Missense
c.40-1G>A; p.?; 4:102529835-102529835	breast	carcinoma; ductal_carcinoma	Unknown
c.1297C>G; p.H433D; 4:102594978-102594978	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.210A>G; p.L70L; 4:102537908-102537908	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.210A>G; p.L70L; 4:102537908-102537908	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.169C>T; p.R57C; 4:102537867-102537867	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1032_1033insC; p.P347fs*7; 4:102584786-102584787	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1115C>T; p.S372L; 4:102593473-102593473	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1125C>T; p.F375F; 4:102593483-102593483	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2803C>T; p.R935C; 4:102616487-102616487	skin	malignant_melanoma	Substitution - Missense
c.1003C>A; p.R335R; 4:102584757-102584757	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.868G>T; p.E290*; 4:102582898-102582898	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1237C>T; p.P413S; 4:102594918-102594918	skin	malignant_melanoma	Substitution - Missense
c.1715C>T; p.S572F; 4:102600972-102600972	breast	carcinoma	Substitution - Missense
c.174C>T; p.F58F; 4:102537872-102537872	skin	malignant_melanoma	Substitution - coding silent
c.961G>T; p.D321Y; 4:102584715-102584715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.424A>G; p.I142V; 4:102576892-102576892	liver	carcinoma	Substitution - Missense
c.424A>G; p.I142V; 4:102576892-102576892	liver	carcinoma	Substitution - Missense
c.2778C>T; p.C926C; 4:102616462-102616462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2691G>A; p.K897K; 4:102613523-102613523	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.981A>G; p.P327P; 4:102584735-102584735	liver	carcinoma	Substitution - coding silent
c.407G>A; p.G136D; 4:102567135-102567135	skin; trunk	malignant_melanoma	Substitution - Missense
c.1291A>C; p.M431L; 4:102594972-102594972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1948G>A; p.G650R; 4:102606691-102606691	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.182T>C; p.V61A; 4:102537880-102537880	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.524A>T; p.D175V; 4:102576992-102576992	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.796G>T; p.G266W; 4:102580600-102580600	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.33T>C; p.P11P; 4:102525551-102525551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2521_2522GG>TT; p.G841F; 4:102612535-102612536	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1474G>T; p.E492*; 4:102596311-102596311	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1311C>A; p.D437E; 4:102596148-102596148	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.222T>G; p.S74S; 4:102537920-102537920	skin	malignant_melanoma	Substitution - coding silent
c.1820C>T; p.A607V; 4:102606563-102606563	skin	malignant_melanoma	Substitution - Missense
c.1852T>G; p.S618A; 4:102606595-102606595	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1004G>A; p.R335Q; 4:102584758-102584758	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1004G>A; p.R335Q; 4:102584758-102584758	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2811C>G; p.L937L; 4:102616495-102616495	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2023G>T; p.G675W; 4:102607218-102607218	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2711C>T; p.S904L; 4:102613543-102613543	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2510C>T; p.A837V; 4:102612524-102612524	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1841G>A; p.R614H; 4:102606584-102606584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1841G>A; p.R614H; 4:102606584-102606584	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.569G>A; p.G190E; 4:102577037-102577037	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1378G>T; p.G460W; 4:102596215-102596215	skin	malignant_melanoma	Substitution - Missense
c.1196G>A; p.G399E; 4:102593554-102593554	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1137T>C; p.S379S; 4:102593495-102593495	liver	carcinoma	Substitution - coding silent
c.2648C>T; p.T883I; 4:102613480-102613480	urinary_tract; bladder	carcinoma	Substitution - Missense
c.733G>A; p.A245T; 4:102580537-102580537	breast	carcinoma	Substitution - Missense
c.1137T>C; p.S379S; 4:102593495-102593495	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.851G>T; p.R284L; 4:102582881-102582881	stomach	adenocarcinoma	Substitution - Missense
c.1137T>C; p.S379S; 4:102593495-102593495	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.209T>C; p.L70P; 4:102537907-102537907	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2116C>T; p.L706F; 4:102607311-102607311	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2401G>A; p.D801N; 4:102612092-102612092	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2749+3_2749+4insA; p.?; 4:102613584-102613585	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Unknown
c.978A>C; p.K326N; 4:102584732-102584732	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.930T>G; p.F310L; 4:102584684-102584684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.906C>T; p.S302S; 4:102582936-102582936	skin	malignant_melanoma	Substitution - coding silent
c.315A>T; p.K105N; 4:102567043-102567043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2269C>T; p.L757L; 4:102610616-102610616	kidney	other; neoplasm	Substitution - coding silent
c.1974A>G; p.L658L; 4:102607169-102607169	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1698C>G; p.V566V; 4:102600955-102600955	breast	carcinoma	Substitution - coding silent
c.1861C>T; p.H621Y; 4:102606604-102606604	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2488G>A; p.D830N; 4:102612502-102612502	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2422G>A; p.D808N; 4:102612436-102612436	skin	malignant_melanoma	Substitution - Missense
c.655G>A; p.A219T; 4:102578964-102578964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.16C>T; p.P6S; 4:102525534-102525534	skin	malignant_melanoma	Substitution - Missense
c.106G>A; p.A36T; 4:102529902-102529902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1969C>T; p.H657Y; 4:102607164-102607164	liver	carcinoma	Substitution - Missense
c.1969C>T; p.H657Y; 4:102607164-102607164	liver	carcinoma	Substitution - Missense
c.1827G>A; p.L609L; 4:102606570-102606570	breast	carcinoma	Substitution - coding silent
c.1155C>T; p.G385G; 4:102593513-102593513	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1840C>T; p.R614C; 4:102606583-102606583	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1840C>T; p.R614C; 4:102606583-102606583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2410C>G; p.L804V; 4:102612101-102612101	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2236C>T; p.P746S; 4:102610583-102610583	skin	malignant_melanoma	Substitution - Missense
c.2104G>A; p.A702T; 4:102607299-102607299	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1831C>T; p.L611F; 4:102606574-102606574	skin; neck	malignant_melanoma	Substitution - Missense
c.666G>A; p.P222P; 4:102578975-102578975	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1129G>A; p.G377S; 4:102593487-102593487	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1348A>C; p.S450R; 4:102596185-102596185	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2779G>A; p.D927N; 4:102616463-102616463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.666G>A; p.P222P; 4:102578975-102578975	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1395C>T; p.T465T; 4:102596232-102596232	skin	malignant_melanoma	Substitution - coding silent
c.1184G>T; p.G395V; 4:102593542-102593542	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2325G>A; p.T775T; 4:102610672-102610672	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.838G>T; p.D280Y; 4:102582868-102582868	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1848T>C; p.G616G; 4:102606591-102606591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2791G>A; p.E931K; 4:102616475-102616475	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2819C>T; p.T940I; 4:102616503-102616503	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.134T>C; p.L45P; 4:102533860-102533860	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2187G>T; p.G729G; 4:102607711-102607711	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.332C>T; p.A111V; 4:102567060-102567060	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2765G>T; p.S922I; 4:102616449-102616449	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1555G>A; p.D519N; 4:102597579-102597579	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.715G>A; p.A239T; 4:102579024-102579024	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2505T>C; p.T835T; 4:102612519-102612519	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1343A>G; p.D448G; 4:102596180-102596180	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1754C>T; p.T585M; 4:102606497-102606497	breast	carcinoma	Substitution - Missense
c.2516A>G; p.K839R; 4:102612530-102612530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.566T>G; p.L189R; 4:102577034-102577034	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2843C>T; p.S948L; 4:102616527-102616527	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1594G>A; p.V532I; 4:102597618-102597618	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1594G>A; p.V532I; 4:102597618-102597618	breast	carcinoma; luminal_NS_carcinoma	Substitution - Missense
c.1338T>C; p.G446G; 4:102596175-102596175	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.604C>A; p.L202M; 4:102578913-102578913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2455C>T; p.Q819*; 4:102612469-102612469	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1105C>T; p.P369S; 4:102593463-102593463	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1670C>T; p.S557F; 4:102600927-102600927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1894C>T; p.L632F; 4:102606637-102606637	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1174_1176delGGC; p.G397delG; 4:102593532-102593534	skin; hip	malignant_melanoma	Deletion - In frame
c.1466G>T; p.G489V; 4:102596303-102596303	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1722C>T; p.D574D; 4:102600979-102600979	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.647T>G; p.M216R; 4:102578956-102578956	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.541G>T; p.A181S; 4:102577009-102577009	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.964A>G; p.I322V; 4:102584718-102584718	liver	carcinoma	Substitution - Missense
c.964A>G; p.I322V; 4:102584718-102584718	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.964A>G; p.I322V; 4:102584718-102584718	liver	carcinoma	Substitution - Missense
c.2043G>T; p.Q681H; 4:102607238-102607238	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2032G>A; p.V678I; 4:102607227-102607227	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.221C>G; p.S74C; 4:102537919-102537919	breast	carcinoma	Substitution - Missense
c.774G>T; p.R258S; 4:102580578-102580578	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1674A>G; p.Q558Q; 4:102600931-102600931	liver	carcinoma	Substitution - coding silent
c.1214A>C; p.Y405S; 4:102594895-102594895	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.541G>C; p.A181P; 4:102577009-102577009	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.408-1G>T; p.?; 4:102576875-102576875	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2504C>A; p.T835N; 4:102612518-102612518	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.809A>G; p.Y270C; 4:102580613-102580613	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.346G>T; p.G116*; 4:102567074-102567074	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.877G>A; p.G293R; 4:102582907-102582907	pancreas	carcinoma	Substitution - Missense
c.312_313insA; p.N106fs*15; 4:102567040-102567041	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.2723C>T; p.S908L; 4:102613555-102613555	skin	malignant_melanoma	Substitution - Missense
c.2054C>T; p.S685F; 4:102607249-102607249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2148T>C; p.T716T; 4:102607672-102607672	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2190A>G; p.R730R; 4:102607714-102607714	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent

Mutation summary in protein domains

Top

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]