Entrez Gene

Basic Information
Gene ID	55355
Name	HJURP
Synonymous	Holliday junction recognition protein;HJURP;Holliday junction recognition protein
Definition	14-3-3-associated AKT substrate\|fetal liver expressing gene 1\|fetal liver-expressing gene 1 protein\|up-regulated in lung cancer 9
Position	2q37.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2045G>C; p.R682T; 2:233840735-233840735	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.301C>G; p.P101A; 2:233849799-233849799	breast	carcinoma	Substitution - Missense
c.1332A>G; p.E444E; 2:233841448-233841448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2104G>C; p.D702H; 2:233840676-233840676	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2046A>T; p.R682S; 2:233840734-233840734	breast	carcinoma	Substitution - Missense
c.1478A>G; p.K493R; 2:233841302-233841302	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.817C>T; p.R273W; 2:233841963-233841963	skin	malignant_melanoma	Substitution - Missense
c.1784C>A; p.S595Y; 2:233840996-233840996	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2157C>T; p.P719P; 2:233840623-233840623	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.798G>T; p.G266G; 2:233841982-233841982	NS	NS	Substitution - coding silent
c.2034C>G; p.F678L; 2:233840746-233840746	skin	malignant_melanoma	Substitution - Missense
c.997G>T; p.G333W; 2:233841783-233841783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1078C>A; p.L360I; 2:233841702-233841702	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1078C>A; p.L360I; 2:233841702-233841702	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1398G>C; p.M466I; 2:233841382-233841382	central_nervous_system; brain	glioma	Substitution - Missense
c.2168A>G; p.E723G; 2:233840612-233840612	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2168A>G; p.E723G; 2:233840612-233840612	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.736A>T; p.S246C; 2:233842044-233842044	prostate	carcinoma	Substitution - Missense
c.526C>T; p.R176C; 2:233844253-233844253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1727G>A; p.R576H; 2:233841053-233841053	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1463C>T; p.P488L; 2:233841317-233841317	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.976C>T; p.P326S; 2:233841804-233841804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.243C>T; p.D81D; 2:233849857-233849857	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1603C>T; p.R535C; 2:233841177-233841177	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1888G>A; p.D630N; 2:233840892-233840892	urinary_tract; bladder	carcinoma	Substitution - Missense
c.446A>T; p.K149I; 2:233845777-233845777	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1327C>T; p.R443W; 2:233841453-233841453	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.428A>G; p.K143R; 2:233845795-233845795	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1309C>T; p.R437*; 2:233841471-233841471	skin	malignant_melanoma	Substitution - Nonsense
c.373C>T; p.Q125*; 2:233847426-233847426	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1765C>T; p.Q589*; 2:233841015-233841015	skin	malignant_melanoma	Substitution - Nonsense
c.1765C>T; p.Q589*; 2:233841015-233841015	prostate	carcinoma	Substitution - Nonsense
c.176C>A; p.T59K; 2:233853852-233853852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.472_495+4del28; p.?; 2:233845724-233845751	ovary	carcinoma; serous_carcinoma	Unknown
c.2070C>G; p.G690G; 2:233840710-233840710	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1033G>A; p.D345N; 2:233841747-233841747	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1033G>A; p.D345N; 2:233841747-233841747	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1170C>T; p.F390F; 2:233841610-233841610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1170C>T; p.F390F; 2:233841610-233841610	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2013_2024del12; p.G672_D675delGTRD; 2:233840756-233840767	oesophagus	carcinoma; adenocarcinoma	Deletion - In frame
c.246C>T; p.S82S; 2:233849854-233849854	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.246C>T; p.S82S; 2:233849854-233849854	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.246C>T; p.S82S; 2:233849854-233849854	thyroid	other; neoplasm	Substitution - coding silent
c.1993_1994insG; p.A665fs*73; 2:233840786-233840787	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Insertion - Frameshift
c.2193G>T; p.R731S; 2:233837631-233837631	breast	carcinoma	Substitution - Missense
c.406G>A; p.A136T; 2:233845817-233845817	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1588A>G; p.T530A; 2:233841192-233841192	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.132C>G; p.F44L; 2:233853896-233853896	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.870G>A; p.M290I; 2:233841910-233841910	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1695A>G; p.P565P; 2:233841085-233841085	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1591C>T; p.H531Y; 2:233841189-233841189	breast	carcinoma	Substitution - Missense
c.1694C>T; p.P565L; 2:233841086-233841086	skin; acral	malignant_melanoma	Substitution - Missense
c.1137G>A; p.V379V; 2:233841643-233841643	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2120C>T; p.T707I; 2:233840660-233840660	skin	malignant_melanoma	Substitution - Missense
c.334G>A; p.A112T; 2:233849766-233849766	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.561C>T; p.A187A; 2:233844218-233844218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.334G>A; p.A112T; 2:233849766-233849766	NS	malignant_melanoma	Substitution - Missense
c.232G>T; p.E78*; 2:233852573-233852573	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.777C>T; p.T259T; 2:233842003-233842003	skin	malignant_melanoma	Substitution - coding silent
c.1125G>T; p.K375N; 2:233841655-233841655	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.885C>T; p.S295S; 2:233841895-233841895	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.885C>T; p.S295S; 2:233841895-233841895	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.885C>T; p.S295S; 2:233841895-233841895	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.38T>A; p.V13E; 2:233854463-233854463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1050G>C; p.K350N; 2:233841730-233841730	central_nervous_system; brain	glioma	Substitution - Missense
c.90G>C; p.Q30H; 2:233854411-233854411	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1455G>A; p.L485L; 2:233841325-233841325	skin	malignant_melanoma	Substitution - coding silent
c.225C>T; p.N75N; 2:233852580-233852580	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.649C>T; p.P217S; 2:233842131-233842131	skin	malignant_melanoma	Substitution - Missense
c.376G>C; p.E126Q; 2:233847423-233847423	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.600G>C; p.K200N; 2:233842180-233842180	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2192G>A; p.R731K; 2:233837632-233837632	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.560C>T; p.A187V; 2:233844219-233844219	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1554C>T; p.S518S; 2:233841226-233841226	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1554C>T; p.S518S; 2:233841226-233841226	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1693C>T; p.P565S; 2:233841087-233841087	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1693C>T; p.P565S; 2:233841087-233841087	NS	malignant_melanoma	Substitution - Missense
c.595A>G; p.R199G; 2:233842185-233842185	thyroid	other; neoplasm	Substitution - Missense
c.595A>G; p.R199G; 2:233842185-233842185	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1006G>A; p.A336T; 2:233841774-233841774	skin; trunk	malignant_melanoma	Substitution - Missense
c.118T>C; p.Y40H; 2:233853910-233853910	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1360C>T; p.R454C; 2:233841420-233841420	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1286A>G; p.N429S; 2:233841494-233841494	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1726C>T; p.R576C; 2:233841054-233841054	urinary_tract; bladder	carcinoma	Substitution - Missense
c.747C>T; p.P249P; 2:233842033-233842033	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.751G>A; p.E251K; 2:233842029-233842029	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1604G>A; p.R535H; 2:233841176-233841176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.572C>A; p.P191H; 2:233844207-233844207	skin	malignant_melanoma	Substitution - Missense
c.1420C>T; p.P474S; 2:233841360-233841360	skin	malignant_melanoma	Substitution - Missense
c.2036C>T; p.P679L; 2:233840744-233840744	skin	malignant_melanoma	Substitution - Missense
c.43G>A; p.D15N; 2:233854458-233854458	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1849C>T; p.R617*; 2:233840931-233840931	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1597G>A; p.A533T; 2:233841183-233841183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1849C>T; p.R617*; 2:233840931-233840931	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1849C>T; p.R617*; 2:233840931-233840931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1849C>T; p.R617*; 2:233840931-233840931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1849C>T; p.R617*; 2:233840931-233840931	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.998G>T; p.G333V; 2:233841782-233841782	breast	carcinoma	Substitution - Missense
c.1602T>G; p.T534T; 2:233841178-233841178	oesophagus	carcinoma	Substitution - coding silent
c.10A>G; p.T4A; 2:233854491-233854491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1646C>G; p.S549C; 2:233841134-233841134	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2072C>G; p.S691C; 2:233840708-233840708	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1646C>G; p.S549C; 2:233841134-233841134	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1646C>G; p.S549C; 2:233841134-233841134	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.232G>A; p.E78K; 2:233852573-233852573	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1593C>A; p.H531Q; 2:233841187-233841187	skin	malignant_melanoma	Substitution - Missense
c.1338C>T; p.C446C; 2:233841442-233841442	skin	malignant_melanoma	Substitution - coding silent
c.1084G>C; p.V362L; 2:233841696-233841696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1214G>T; p.R405M; 2:233841566-233841566	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1233T>G; p.I411M; 2:233841547-233841547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.422C>T; p.P141L; 2:233845801-233845801	skin	malignant_melanoma	Substitution - Missense
c.1553G>T; p.S518I; 2:233841227-233841227	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2090C>T; p.S697F; 2:233840690-233840690	skin	malignant_melanoma	Substitution - Missense
c.1651A>G; p.I551V; 2:233841129-233841129	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1415C>T; p.A472V; 2:233841365-233841365	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1054_1055GG>TT; p.G352F; 2:233841725-233841726	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.859A>G; p.T287A; 2:233841921-233841921	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.951G>C; p.Q317H; 2:233841829-233841829	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1797G>T; p.M599I; 2:233840983-233840983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1135G>A; p.V379M; 2:233841645-233841645	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2072C>T; p.S691F; 2:233840708-233840708	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2072C>T; p.S691F; 2:233840708-233840708	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2072C>T; p.S691F; 2:233840708-233840708	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.443G>A; p.R148K; 2:233845780-233845780	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.315G>A; p.S105S; 2:233849785-233849785	pancreas	carcinoma	Substitution - coding silent
c.315G>A; p.S105S; 2:233849785-233849785	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1394A>G; p.N465S; 2:233841386-233841386	breast	carcinoma	Substitution - Missense
c.1775G>A; p.C592Y; 2:233841005-233841005	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2091C>T; p.S697S; 2:233840689-233840689	skin	malignant_melanoma	Substitution - coding silent
c.1704A>C; p.E568D; 2:233841076-233841076	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2157C>A; p.P719P; 2:233840623-233840623	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2077C>T; p.R693C; 2:233840703-233840703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1918C>G; p.P640A; 2:233840862-233840862	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1530delA; p.A511fs*89; 2:233841250-233841250	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.884C>G; p.S295C; 2:233841896-233841896	prostate	adenoma	Substitution - Missense
c.884C>G; p.S295C; 2:233841896-233841896	thyroid	other; neoplasm	Substitution - Missense
c.320G>A; p.R107H; 2:233849780-233849780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1726C>A; p.R576S; 2:233841054-233841054	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1479A>T; p.K493N; 2:233841301-233841301	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1330G>A; p.E444K; 2:233841450-233841450	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.776C>T; p.T259I; 2:233842004-233842004	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1330G>A; p.E444K; 2:233841450-233841450	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1072G>A; p.A358T; 2:233841708-233841708	breast	carcinoma	Substitution - Missense
c.1641T>C; p.N547N; 2:233841139-233841139	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2172-6delT; p.?; 2:233837658-233837658	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1282G>C; p.E428Q; 2:233841498-233841498	breast	carcinoma	Substitution - Missense
c.1832A>G; p.K611R; 2:233840948-233840948	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.31G>C; p.E11Q; 2:233854470-233854470	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.511G>A; p.A171T; 2:233844268-233844268	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.954G>C; p.R318S; 2:233841826-233841826	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.598A>G; p.K200E; 2:233842182-233842182	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1629C>T; p.H543H; 2:233841151-233841151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.704C>T; p.S235F; 2:233842076-233842076	skin; scalp	malignant_melanoma	Substitution - Missense
c.1504G>A; p.E502K; 2:233841276-233841276	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]