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	3699
Symbol	ITIH3
Synonymous	H3P
Full name	inter-alpha-trypsin inhibitor heavy chain 3
Gene description	ITI heavy chain H3\|ITI-HC3\|SHAP\|inter-alpha (globulin) inhibitor H3\|inter-alpha (globulin) inhibitor, H3 polypeptide\|inter-alpha-inhibitor heavy chain 3\|inter-alpha-trypsin inhibitor heavy chain H3\|pre-alpha (globulin) inhibitor, H3 polypeptide\|serum-deri
Cytoband	3p21.1
Gene type	protein-coding
Synonymous	MIM:146650; HGNC:HGNC:6168; Ensembl:ENSG00000162267; HPRD:00891; Vega:OTTHUMG00000158956

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1637G>A; p.R546Q; 3:52802734-52802734	skin	malignant_melanoma	Substitution - Missense
c.1700T>A; p.L567Q; 3:52802797-52802797	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.700C>T; p.R234C; 3:52799002-52799002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.700C>T; p.R234C; 3:52799002-52799002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.234C>T; p.S78S; 3:52796600-52796600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.83G>A; p.R28Q; 3:52794886-52794886	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.83G>A; p.R28Q; 3:52794886-52794886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.651C>A; p.F217L; 3:52797918-52797918	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.618C>T; p.N206N; 3:52797885-52797885	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.79T>G; p.F27V; 3:52794882-52794882	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.839T>C; p.V280A; 3:52799421-52799421	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1252G>T; p.G418C; 3:52801015-52801015	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1310A>G; p.E437G; 3:52801073-52801073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1033C>A; p.Q345K; 3:52799879-52799879	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1260C>T; p.F420F; 3:52801023-52801023	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1841C>T; p.A614V; 3:52803986-52803986	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2009G>A; p.R670Q; 3:52806358-52806358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.202G>A; p.V68I; 3:52796568-52796568	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1617G>A; p.M539I; 3:52802714-52802714	skin	malignant_melanoma	Substitution - Missense
c.657G>A; p.G219G; 3:52797924-52797924	skin	malignant_melanoma	Substitution - coding silent
c.1409C>T; p.P470L; 3:52802359-52802359	skin	malignant_melanoma	Substitution - Missense
c.201C>T; p.A67A; 3:52796567-52796567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.433G>T; p.A145S; 3:52797151-52797151	ovary	other; neoplasm	Substitution - Missense
c.88C>T; p.L30F; 3:52794891-52794891	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.250C>A; p.P84T; 3:52796616-52796616	breast	carcinoma	Substitution - Missense
c.1386C>T; p.G462G; 3:52802336-52802336	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.20C>T; p.P7L; 3:52794823-52794823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1885G>A; p.E629K; 3:52805818-52805818	breast	carcinoma	Substitution - Missense
c.1885G>A; p.E629K; 3:52805818-52805818	skin	malignant_melanoma	Substitution - Missense
c.1702G>A; p.E568K; 3:52802799-52802799	central_nervous_system; brain	glioma	Substitution - Missense
c.1650C>T; p.F550F; 3:52802747-52802747	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.233C>T; p.S78F; 3:52796599-52796599	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.545T>G; p.F182C; 3:52797263-52797263	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.291C>T; p.D97D; 3:52796748-52796748	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1745C>T; p.T582M; 3:52803890-52803890	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.291C>T; p.D97D; 3:52796748-52796748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1674G>T; p.W558C; 3:52802771-52802771	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.846T>C; p.P282P; 3:52799428-52799428	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.30C>T; p.I10I; 3:52794833-52794833	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1099C>T; p.L367L; 3:52800561-52800561	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.968T>C; p.I323T; 3:52799814-52799814	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1114A>G; p.M372V; 3:52800576-52800576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.893G>A; p.R298Q; 3:52799475-52799475	breast	carcinoma	Substitution - Missense
c.178C>T; p.H60Y; 3:52796544-52796544	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1182T>G; p.T394T; 3:52800644-52800644	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.502G>A; p.E168K; 3:52797220-52797220	skin; trunk	malignant_melanoma	Substitution - Missense
c.2008C>A; p.R670R; 3:52806357-52806357	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - coding silent
c.2008C>A; p.R670R; 3:52806357-52806357	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - coding silent
c.1308G>A; p.L436L; 3:52801071-52801071	skin	malignant_melanoma	Substitution - coding silent
c.625C>A; p.L209M; 3:52797892-52797892	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.658delA; p.K221fs*10; 3:52797925-52797925	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Deletion - Frameshift
c.52G>A; p.A18T; 3:52794855-52794855	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1889C>A; p.P630H; 3:52805822-52805822	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1452C>T; p.I484I; 3:52802402-52802402	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1193C>T; p.A398V; 3:52800655-52800655	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.209G>A; p.R70H; 3:52796575-52796575	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1949G>A; p.R650Q; 3:52806298-52806298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1708C>A; p.R570S; 3:52802805-52802805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1708C>A; p.R570S; 3:52802805-52802805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.815T>A; p.F272Y; 3:52799397-52799397	breast	carcinoma	Substitution - Missense
c.1248C>T; p.I416I; 3:52801011-52801011	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1441G>A; p.E481K; 3:52802391-52802391	skin	malignant_melanoma	Substitution - Missense
c.1441G>A; p.E481K; 3:52802391-52802391	skin	malignant_melanoma	Substitution - Missense
c.1131A>C; p.R377R; 3:52800593-52800593	pancreas	carcinoma	Substitution - coding silent
c.1717G>A; p.A573T; 3:52803862-52803862	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1895A>G; p.H632R; 3:52805828-52805828	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1887G>C; p.E629D; 3:52805820-52805820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.552C>T; p.I184I; 3:52797819-52797819	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.48C>T; p.S16S; 3:52794851-52794851	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1414C>A; p.L472M; 3:52802364-52802364	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1908-2A>C; p.?; 3:52806101-52806101	ovary	other; neoplasm	Unknown
c.1305C>T; p.F435F; 3:52801068-52801068	skin	malignant_melanoma	Substitution - coding silent
c.243G>A; p.V81V; 3:52796609-52796609	skin	malignant_melanoma	Substitution - coding silent
c.40C>T; p.L14F; 3:52794843-52794843	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1494C>T; p.G498G; 3:52802444-52802444	prostate	carcinoma	Substitution - coding silent
c.919C>A; p.L307I; 3:52799765-52799765	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1432G>A; p.E478K; 3:52802382-52802382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1882G>T; p.G628C; 3:52805815-52805815	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.567C>T; p.F189F; 3:52797834-52797834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.404T>G; p.L135W; 3:52797122-52797122	skin	malignant_melanoma	Substitution - Missense
c.1618G>A; p.E540K; 3:52802715-52802715	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1728G>T; p.E576D; 3:52803873-52803873	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4G>A; p.A2T; 3:52794807-52794807	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1670T>A; p.L557H; 3:52802767-52802767	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1346G>A; p.R449H; 3:52801109-52801109	pancreas	carcinoma	Substitution - Missense
c.1331A>G; p.H444R; 3:52801094-52801094	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1686C>A; p.T562T; 3:52802783-52802783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1827C>T; p.N609N; 3:52803972-52803972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.257C>T; p.T86M; 3:52796623-52796623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.251C>T; p.P84L; 3:52796617-52796617	kidney	other; neoplasm	Substitution - Missense
c.1219A>C; p.K407Q; 3:52800982-52800982	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.943C>A; p.Q315K; 3:52799789-52799789	liver	carcinoma	Substitution - Missense
c.943C>A; p.Q315K; 3:52799789-52799789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.206A>G; p.N69S; 3:52796572-52796572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1503C>T; p.I501I; 3:52802453-52802453	skin	malignant_melanoma	Substitution - coding silent
c.206A>G; p.N69S; 3:52796572-52796572	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1777C>A; p.H593N; 3:52803922-52803922	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1568G>A; p.G523E; 3:52802518-52802518	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.469G>A; p.E157K; 3:52797187-52797187	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1343G>T; p.R448L; 3:52801106-52801106	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1636C>T; p.R546W; 3:52802733-52802733	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1636C>T; p.R546W; 3:52802733-52802733	urinary_tract; bladder	carcinoma	Substitution - Missense
c.115-3A>T; p.?; 3:52796478-52796478	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.376G>A; p.G126S; 3:52796833-52796833	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1948C>T; p.R650W; 3:52806297-52806297	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1948C>T; p.R650W; 3:52806297-52806297	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1840G>A; p.A614T; 3:52803985-52803985	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.791T>A; p.I264K; 3:52799373-52799373	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.536T>C; p.V179A; 3:52797254-52797254	liver	carcinoma	Substitution - Missense
c.107C>G; p.P36R; 3:52795616-52795616	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.65T>G; p.F22C; 3:52794868-52794868	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1069A>T; p.K357*; 3:52799915-52799915	skin	malignant_melanoma	Substitution - Nonsense
c.628G>T; p.G210*; 3:52797895-52797895	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.570G>A; p.E190E; 3:52797837-52797837	prostate	carcinoma	Substitution - coding silent
c.1801A>G; p.M601V; 3:52803946-52803946	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1320C>A; p.A440A; 3:52801083-52801083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1801A>G; p.M601V; 3:52803946-52803946	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation