Entrez Gene

Basic Information
Gene ID	5693
Name	PSMB5
Synonymous	proteasome (prosome, macropain) subunit, beta type, 5;PSMB5;proteasome (prosome, macropain) subunit, beta type, 5
Definition	PSX large multifunctional protease X\|macropain epsilon chain\|multicatalytic endopeptidase complex epsilon chain\|proteasome beta 5 subunit\|proteasome catalytic subunit 3\|proteasome chain 6\|proteasome epsilon chain\|proteasome subunit MB1\|proteasome subunit
Position	14q11.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.703_704insAGT; p.L235>QF; 14:23026177-23026178	pancreas	carcinoma; acinar_carcinoma	Complex - insertion inframe
c.163G>C; p.E55Q; 14:23034719-23034719	oesophagus	carcinoma	Substitution - Missense
c.79C>A; p.L27M; 14:23034803-23034803	breast	carcinoma	Substitution - Missense
c.667A>C; p.T223P; 14:23026214-23026214	breast	carcinoma	Substitution - Missense
c.359G>A; p.R120Q; 14:23033514-23033514	pancreas	carcinoma	Substitution - Missense
c.32T>A; p.L11Q; 14:23034850-23034850	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.573T>C; p.S191S; 14:23026308-23026308	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.116_125del10; p.L39fs*31; 14:23034757-23034766	breast	carcinoma	Deletion - Frameshift
c.598C>T; p.R200W; 14:23026283-23026283	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.390G>A; p.K130K; 14:23033483-23033483	pancreas	carcinoma	Substitution - coding silent
c.37G>T; p.V13L; 14:23034845-23034845	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.782C>T; p.S261F; 14:23026099-23026099	prostate	carcinoma	Substitution - Missense
c.715C>T; p.R239W; 14:23026166-23026166	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.470G>A; p.G157D; 14:23033403-23033403	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.322G>A; p.A108T; 14:23033551-23033551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6G>A; p.A2A; 14:23034876-23034876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.385A>G; p.N129D; 14:23033488-23033488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.733C>T; p.R245*; 14:23026148-23026148	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.15C>A; p.S5R; 14:23034867-23034867	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.529G>T; p.G177W; 14:23026352-23026352	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.770A>C; p.K257T; 14:23026111-23026111	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.652G>A; p.A218T; 14:23026229-23026229	liver	carcinoma	Substitution - Missense
c.438G>A; p.V146V; 14:23033435-23033435	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.264G>T; p.Q88H; 14:23033609-23033609	skin	malignant_melanoma	Substitution - Missense
c.198G>C; p.K66N; 14:23034684-23034684	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.383G>A; p.R128Q; 14:23033490-23033490	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.226G>C; p.D76H; 14:23033647-23033647	urinary_tract; bladder	carcinoma	Substitution - Missense
c.791G>A; p.264; 14:23026090-23026090	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.791G>A; p.264; 14:23026090-23026090	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.321C>T; p.G107G; 14:23033552-23033552	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.321C>T; p.G107G; 14:23033552-23033552	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.85G>A; p.D29N; 14:23034797-23034797	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.358C>T; p.R120W; 14:23033515-23033515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.288C>T; p.I96I; 14:23033585-23033585	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]