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	444
Symbol	ASPH
Synonymous	AAH\|BAH\|CASQ2BP1\|FDLAB\|HAAH\|JCTN\|junctin
Full name	aspartate beta-hydroxylase
Gene description	A beta H-J-J\|ASP beta-hydroxylase\|aspartyl/asparaginyl beta-hydroxylase\|aspartyl/asparaginyl-beta-hydroxylase\|cardiac junctin\|humbug\|junctate\|peptide-aspartate beta-dioxygenase
Cytoband	8q12.1
Gene type	protein-coding
Synonymous	MIM:600582; HGNC:HGNC:757; Ensembl:ENSG00000198363; HPRD:08996; Vega:OTTHUMG00000164375

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.584G>A; p.R195K; 8:61646785-61646785	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1847A>G; p.D616G; 8:61526030-61526030	liver	carcinoma	Substitution - Missense
c.1847A>G; p.D616G; 8:61526030-61526030	liver	carcinoma	Substitution - Missense
c.1293A>C; p.Q431H; 8:61567175-61567175	breast	carcinoma	Substitution - Missense
c.1836C>T; p.F612F; 8:61526041-61526041	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1159G>A; p.D387N; 8:61567309-61567309	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.475G>A; p.V159I; 8:61651065-61651065	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1551C>T; p.S517S; 8:61553106-61553106	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.338C>G; p.S113C; 8:61653645-61653645	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1176_1178delGAG; p.R393delR; 8:61567290-61567292	breast	carcinoma	Deletion - In frame
c.1126C>A; p.R376R; 8:61576795-61576795	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.784G>A; p.E262K; 8:61642894-61642894	skin	malignant_melanoma	Substitution - Missense
c.2198C>T; p.S733F; 8:61503438-61503438	skin	malignant_melanoma	Substitution - Missense
c.2054G>A; p.C685Y; 8:61517600-61517600	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1857G>A; p.L619L; 8:61526020-61526020	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.282T>G; p.G94G; 8:61681008-61681008	skin	malignant_melanoma	Substitution - coding silent
c.415+2T>G; p.?; 8:61653566-61653566	breast	carcinoma	Unknown
c.1364C>T; p.S455F; 8:61562817-61562817	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1446T>G; p.S482R; 8:61556014-61556014	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1524C>T; p.I508I; 8:61555936-61555936	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.566C>T; p.A189V; 8:61646803-61646803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2257C>T; p.R753C; 8:61503379-61503379	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1196G>T; p.R399L; 8:61567272-61567272	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1643A>T; p.E548V; 8:61548192-61548192	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1242C>T; p.V414V; 8:61567226-61567226	skin	malignant_melanoma	Substitution - coding silent
c.1810G>A; p.V604M; 8:61526067-61526067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.791-5_791-3delTTT; p.?; 8:61638366-61638368	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.881T>C; p.I294T; 8:61637955-61637955	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2178G>T; p.E726D; 8:61503458-61503458	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.706C>T; p.P236S; 8:61643948-61643948	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.858T>C; p.N286N; 8:61637978-61637978	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.647A>G; p.E216G; 8:61644605-61644605	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.754A>C; p.T252P; 8:61643389-61643389	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.458C>G; p.S153C; 8:61651082-61651082	breast	carcinoma	Substitution - Missense
c.2091G>A; p.K697K; 8:61517563-61517563	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.791-4_791-3delTT; p.?; 8:61638366-61638367	ovary	carcinoma; serous_carcinoma	Unknown
c.1412A>G; p.D471G; 8:61562769-61562769	genital_tract; extragonadal	germ_cell_tumour; yolk_sac_tumour	Substitution - Missense
c.1644G>A; p.E548E; 8:61548191-61548191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1644G>A; p.E548E; 8:61548191-61548191	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.939A>G; p.T313T; 8:61619015-61619015	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1129G>C; p.A377P; 8:61576792-61576792	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.448C>G; p.Q150E; 8:61651092-61651092	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1962C>T; p.F654F; 8:61518062-61518062	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1912G>T; p.E638*; 8:61518112-61518112	breast	carcinoma	Substitution - Nonsense
c.1117C>T; p.Q373*; 8:61576804-61576804	skin	malignant_melanoma	Substitution - Nonsense
c.857A>G; p.N286S; 8:61637979-61637979	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.217G>A; p.V73I; 8:61684075-61684075	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.717T>C; p.S239S; 8:61643426-61643426	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2034G>A; p.P678P; 8:61517620-61517620	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.868G>C; p.D290H; 8:61637968-61637968	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1756T>A; p.L586I; 8:61548079-61548079	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1011T>G; p.F337L; 8:61583995-61583995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2218G>A; p.V740M; 8:61503418-61503418	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2170G>A; p.E724K; 8:61503466-61503466	oesophagus	carcinoma	Substitution - Missense
c.107_108delCA; p.T36fs*40; 8:61684184-61684185	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1729A>G; p.T577A; 8:61548106-61548106	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1552G>A; p.G518R; 8:61553105-61553105	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.733G>A; p.D245N; 8:61643410-61643410	breast	carcinoma	Substitution - Missense
c.981G>T; p.K327N; 8:61584025-61584025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.430G>A; p.E144K; 8:61651110-61651110	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1327C>A; p.L443M; 8:61562854-61562854	breast	carcinoma	Substitution - Missense
c.142G>A; p.G48R; 8:61684150-61684150	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.440C>T; p.A147V; 8:61651100-61651100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.555G>T; p.E185D; 8:61646814-61646814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1424A>G; p.K475R; 8:61562757-61562757	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1701G>A; p.V567V; 8:61548134-61548134	breast	carcinoma	Substitution - coding silent
c.545A>C; p.E182A; 8:61646824-61646824	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1907G>A; p.R636K; 8:61518117-61518117	pancreas	carcinoma	Substitution - Missense
c.1145C>T; p.A382V; 8:61576776-61576776	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1846G>A; p.D616N; 8:61526031-61526031	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1366T>C; p.L456L; 8:61562815-61562815	skin	malignant_melanoma	Substitution - coding silent
c.1793G>T; p.R598L; 8:61526084-61526084	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.386A>G; p.E129G; 8:61653597-61653597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.904C>T; p.P302S; 8:61633713-61633713	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2095G>T; p.G699C; 8:61517559-61517559	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1536G>T; p.K512N; 8:61555924-61555924	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.620-5delT; p.?; 8:61644637-61644637	liver	carcinoma	Unknown
c.620-5delT; p.?; 8:61644637-61644637	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.1677C>G; p.V559V; 8:61548158-61548158	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1677C>G; p.V559V; 8:61548158-61548158	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2041G>A; p.G681R; 8:61517613-61517613	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2062C>T; p.R688*; 8:61517592-61517592	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1235C>G; p.P412R; 8:61567233-61567233	kidney	other; neoplasm	Substitution - Missense
c.1642G>C; p.E548Q; 8:61548193-61548193	oesophagus	carcinoma	Substitution - Missense
c.2118C>T; p.N706N; 8:61517536-61517536	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1119G>C; p.Q373H; 8:61576802-61576802	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2058G>A; p.R686R; 8:61517596-61517596	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2203C>T; p.R735W; 8:61503433-61503433	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2173C>T; p.H725Y; 8:61503463-61503463	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2175C>T; p.H725H; 8:61503461-61503461	skin	malignant_melanoma	Substitution - coding silent
c.1685G>A; p.R562H; 8:61548150-61548150	central_nervous_system; brain	glioma	Substitution - Missense
c.481G>A; p.A161T; 8:61651059-61651059	large_intestine; colon	adenoma	Substitution - Missense
c.625G>A; p.E209K; 8:61644627-61644627	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1129G>A; p.A377T; 8:61576792-61576792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2035C>T; p.H679Y; 8:61517619-61517619	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.791-3delT; p.?; 8:61638366-61638366	liver	carcinoma	Unknown
c.791-3delT; p.?; 8:61638366-61638366	liver	carcinoma	Unknown
c.798T>A; p.Y266*; 8:61638356-61638356	skin	malignant_melanoma	Substitution - Nonsense
c.791-3delT; p.?; 8:61638366-61638366	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.913_915delGAA; p.E305delE; 8:61633702-61633704	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.1211C>T; p.T404I; 8:61567257-61567257	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.45C>T; p.S15S; 8:61714327-61714327	liver	carcinoma	Substitution - coding silent
c.45C>T; p.S15S; 8:61714327-61714327	liver	carcinoma	Substitution - coding silent
c.1737A>C; p.K579N; 8:61548098-61548098	skin	malignant_melanoma	Substitution - Missense
c.1477C>T; p.H493Y; 8:61555983-61555983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1166C>G; p.A389G; 8:61567302-61567302	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.563T>C; p.M188T; 8:61646806-61646806	skin	malignant_melanoma	Substitution - Missense
c.390C>T; p.P130P; 8:61653593-61653593	skin	malignant_melanoma	Substitution - coding silent
c.390C>T; p.P130P; 8:61653593-61653593	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2204G>A; p.R735Q; 8:61503432-61503432	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.660A>C; p.Q220H; 8:61643994-61643994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1373delA; p.N458fs*9; 8:61562808-61562808	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1373delA; p.N458fs*9; 8:61562808-61562808	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1007A>C; p.K336T; 8:61583999-61583999	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1886C>T; p.T629M; 8:61525991-61525991	pancreas	carcinoma	Substitution - Missense
c.1383C>T; p.G461G; 8:61562798-61562798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1146G>A; p.A382A; 8:61576775-61576775	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.727G>A; p.V243I; 8:61643416-61643416	skin; trunk	malignant_melanoma	Substitution - Missense
c.823G>T; p.E275*; 8:61638331-61638331	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2003C>T; p.S668F; 8:61517651-61517651	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1404A>G; p.G468G; 8:61562777-61562777	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2208G>A; p.L736L; 8:61503428-61503428	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.546G>T; p.E182D; 8:61646823-61646823	breast	carcinoma	Substitution - Missense
c.44G>A; p.S15N; 8:61714328-61714328	liver	carcinoma	Substitution - Missense
c.44G>A; p.S15N; 8:61714328-61714328	liver	carcinoma	Substitution - Missense
c.423G>T; p.Q141H; 8:61651117-61651117	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.903_904insT; p.P302fs*14; 8:61633713-61633714	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.902_903insT; p.P302fs*14; 8:61633714-61633715	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.670C>T; p.Q224*; 8:61643984-61643984	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1297C>T; p.L433L; 8:61567171-61567171	skin	malignant_melanoma	Substitution - coding silent
c.1644G>T; p.E548D; 8:61548191-61548191	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.118G>T; p.G40*; 8:61684174-61684174	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1516G>C; p.E506Q; 8:61555944-61555944	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1550C>T; p.S517F; 8:61553107-61553107	skin	malignant_melanoma	Substitution - Missense
c.1887G>A; p.T629T; 8:61525990-61525990	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2086C>T; p.P696S; 8:61517568-61517568	skin	malignant_melanoma	Substitution - Missense
c.791-3delT; p.?; 8:61638366-61638366	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.69G>T; p.T23T; 8:61714303-61714303	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1587C>G; p.F529L; 8:61553070-61553070	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.422_423insCCCC; p.Q141fs*7; 8:61651117-61651118	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1170G>A; p.E390E; 8:61567298-61567298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.754A>T; p.T252S; 8:61643389-61643389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1499C>T; p.A500V; 8:61555961-61555961	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1652A>T; p.H551L; 8:61548183-61548183	prostate	carcinoma	Substitution - Missense
c.958C>T; p.P320S; 8:61618996-61618996	lung	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation