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	649
Symbol	BMP1
Synonymous	OI13\|PCOLC\|PCP\|PCP2\|TLD
Full name	bone morphogenetic protein 1
Gene description	mammalian tolloid protein\|procollagen C-endopeptidase\|procollagen C-proteinase 3
Cytoband	8p21.3
Gene type	protein-coding
Synonymous	MIM:112264; HGNC:HGNC:1067; Ensembl:ENSG00000168487; HPRD:00209; Vega:OTTHUMG00000097761

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1522C>T; p.R508C; 8:22194802-22194802	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1522C>T; p.R508C; 8:22194802-22194802	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2901A>G; p.K967K; 8:22211668-22211668	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1192G>A; p.G398R; 8:22194069-22194069	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.542G>A; p.R181Q; 8:22176641-22176641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.839G>A; p.G280D; 8:22179707-22179707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1939G>A; p.D647N; 8:22197252-22197252	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.172C>T; p.L58L; 8:22173625-22173625	pancreas	carcinoma	Substitution - coding silent
c.1770T>C; p.A590A; 8:22196684-22196684	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1944C>T; p.F648F; 8:22197257-22197257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1883G>A; p.R628H; 8:22196797-22196797	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.414C>T; p.V138V; 8:22176294-22176294	skin	malignant_melanoma	Substitution - coding silent
c.1843A>T; p.K615*; 8:22196757-22196757	thyroid	carcinoma	Substitution - Nonsense
c.1890C>T; p.S630S; 8:22196804-22196804	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1068C>T; p.P356P; 8:22180474-22180474	central_nervous_system; brain	glioma	Substitution - coding silent
c.898G>A; p.G300S; 8:22179766-22179766	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.429C>T; p.F143F; 8:22176309-22176309	skin	malignant_melanoma	Substitution - coding silent
c.580G>A; p.G194R; 8:22176989-22176989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2277C>A; p.T759T; 8:22206897-22206897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.228G>A; p.R76R; 8:22173681-22173681	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.505C>T; p.R169C; 8:22176604-22176604	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.505C>T; p.R169C; 8:22176604-22176604	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2550G>A; p.K850K; 8:22207491-22207491	skin	malignant_melanoma	Substitution - coding silent
c.1390C>T; p.R464W; 8:22194537-22194537	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1390C>T; p.R464W; 8:22194537-22194537	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1597G>T; p.G533W; 8:22194877-22194877	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1305C>T; p.C435C; 8:22194452-22194452	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2040C>T; p.N680N; 8:22197353-22197353	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2153G>A; p.C718Y; 8:22201848-22201848	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1837_1838CC>TT; p.P613F; 8:22196751-22196752	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2450T>C; p.V817A; 8:22207391-22207391	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2047G>A; p.V683M; 8:22197360-22197360	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1283T>A; p.F428Y; 8:22194160-22194160	skin	malignant_melanoma	Substitution - Missense
c.765G>A; p.Q255Q; 8:22177886-22177886	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1669G>A; p.G557R; 8:22195491-22195491	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1669G>A; p.G557R; 8:22195491-22195491	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2322G>A; p.T774T; 8:22206942-22206942	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2593C>T; p.R865W; 8:22209462-22209462	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2045G>A; p.R682H; 8:22197358-22197358	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1417G>A; p.V473M; 8:22194564-22194564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.910C>T; p.R304W; 8:22179778-22179778	skin	malignant_melanoma	Substitution - Missense
c.1546G>A; p.D516N; 8:22194826-22194826	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.911G>A; p.R304Q; 8:22179779-22179779	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.948T>C; p.L316L; 8:22179816-22179816	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1184G>A; p.R395H; 8:22194061-22194061	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1667G>A; p.R556H; 8:22195489-22195489	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1030G>A; p.A344T; 8:22180436-22180436	breast	carcinoma	Substitution - Missense
c.2751C>T; p.C917C; 8:22209620-22209620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.277T>A; p.S93T; 8:22176157-22176157	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2437G>A; p.A813T; 8:22207378-22207378	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2431C>T; p.R811*; 8:22207372-22207372	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1578G>A; p.W526*; 8:22194858-22194858	breast	carcinoma	Substitution - Nonsense
c.2506C>T; p.R836C; 8:22207447-22207447	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.580delG; p.G195fs*56; 8:22176989-22176989	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1065A>C; p.T355T; 8:22180471-22180471	breast	carcinoma	Substitution - coding silent
c.1832_1833insC; p.N614fs*21; 8:22196746-22196747	breast	carcinoma	Insertion - Frameshift
c.1832_1833insC; p.N614fs*21; 8:22196746-22196747	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1111C>T; p.R371C; 8:22192082-22192082	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2199C>T; p.F733F; 8:22201894-22201894	skin	malignant_melanoma	Substitution - coding silent
c.2276C>T; p.T759I; 8:22206896-22206896	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.338G>C; p.R113T; 8:22176218-22176218	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2576A>T; p.E859V; 8:22209445-22209445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1170G>T; p.A390A; 8:22192141-22192141	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2875C>T; p.H959Y; 8:22211642-22211642	skin	malignant_melanoma	Substitution - Missense
c.2073G>A; p.V691V; 8:22197386-22197386	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1477C>T; p.L493L; 8:22194757-22194757	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.372C>T; p.S124S; 8:22176252-22176252	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2071G>A; p.V691M; 8:22197384-22197384	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1281C>T; p.F427F; 8:22194158-22194158	skin	malignant_melanoma	Substitution - coding silent
c.2206C>T; p.H736Y; 8:22201901-22201901	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1432C>T; p.Q478*; 8:22194579-22194579	skin	malignant_melanoma	Substitution - Nonsense
c.2914C>T; p.R972*; 8:22211681-22211681	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1391G>T; p.R464L; 8:22194538-22194538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1317G>A; p.V439V; 8:22194464-22194464	skin	malignant_melanoma	Substitution - coding silent
c.501G>A; p.L167L; 8:22176600-22176600	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2581G>A; p.G861R; 8:22209450-22209450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.227G>A; p.R76Q; 8:22173680-22173680	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.298A>G; p.T100A; 8:22176178-22176178	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2391G>T; p.Q797H; 8:22207332-22207332	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.565G>A; p.V189M; 8:22176974-22176974	pancreas	carcinoma	Substitution - Missense
c.1249C>T; p.R417C; 8:22194126-22194126	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1508G>A; p.S503N; 8:22194788-22194788	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2317T>G; p.C773G; 8:22206937-22206937	thyroid	other; neoplasm	Substitution - Missense
c.2580C>T; p.C860C; 8:22209449-22209449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2580C>T; p.C860C; 8:22209449-22209449	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2580C>T; p.C860C; 8:22209449-22209449	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.412G>T; p.V138F; 8:22176292-22176292	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.680G>A; p.R227Q; 8:22177089-22177089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1873A>C; p.T625P; 8:22196787-22196787	breast	carcinoma	Substitution - Missense
c.1101G>A; p.L367L; 8:22192072-22192072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2140T>G; p.C714G; 8:22201835-22201835	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1501G>A; p.E501K; 8:22194781-22194781	skin; trunk	malignant_melanoma	Substitution - Missense
c.506G>A; p.R169H; 8:22176605-22176605	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.962-1G>T; p.?; 8:22180367-22180367	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.105G>C; p.E35D; 8:22165510-22165510	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1052G>A; p.R351H; 8:22180458-22180458	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2170A>G; p.S724G; 8:22201865-22201865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2444delC; p.V817fs*52; 8:22207385-22207385	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1469A>G; p.Y490C; 8:22194749-22194749	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1833delC; p.N614fs*138; 8:22196747-22196747	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1832_1833insCC; p.N614fs*139; 8:22196746-22196747	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1444-9G>A; p.?; 8:22194715-22194715	skin; leg	malignant_melanoma	Unknown
c.2425G>A; p.D809N; 8:22207366-22207366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1444-9G>A; p.?; 8:22194715-22194715	skin; leg	malignant_melanoma	Unknown
c.705C>T; p.S235S; 8:22177114-22177114	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2640C>A; p.G880G; 8:22209509-22209509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2338A>T; p.T780S; 8:22206958-22206958	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.286A>T; p.S96C; 8:22176166-22176166	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1628A>G; p.N543S; 8:22194908-22194908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.776_777CC>TT; p.S259F; 8:22177897-22177898	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.133G>C; p.D45H; 8:22165538-22165538	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1230C>T; p.S410S; 8:22194107-22194107	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.912G>A; p.R304R; 8:22179780-22179780	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2624_2625CC>TT; p.S875F; 8:22209493-22209494	skin; mucosal	malignant_melanoma	Substitution - Missense
c.226C>T; p.R76W; 8:22173679-22173679	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.911G>T; p.R304L; 8:22179779-22179779	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2275A>G; p.T759A; 8:22206895-22206895	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2441A>C; p.K814T; 8:22207382-22207382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.355C>T; p.R119W; 8:22176235-22176235	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2861T>G; p.V954G; 8:22211628-22211628	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1045G>A; p.V349M; 8:22180451-22180451	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1568G>A; p.S523N; 8:22194848-22194848	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1624G>T; p.V542F; 8:22194904-22194904	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1146C>T; p.V382V; 8:22192117-22192117	skin	malignant_melanoma	Substitution - coding silent
c.1954C>T; p.R652C; 8:22197267-22197267	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2350C>T; p.R784W; 8:22206970-22206970	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2566C>T; p.H856Y; 8:22207507-22207507	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1489G>A; p.D497N; 8:22194769-22194769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.695G>A; p.R232H; 8:22177104-22177104	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2424C>A; p.F808L; 8:22207365-22207365	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.991G>A; p.G331S; 8:22180397-22180397	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.94C>A; p.L32M; 8:22165499-22165499	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2538G>A; p.S846S; 8:22207479-22207479	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1668C>T; p.R556R; 8:22195490-22195490	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.204A>G; p.V68V; 8:22173657-22173657	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1008T>C; p.P336P; 8:22180414-22180414	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2825G>T; p.G942V; 8:22209694-22209694	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1920C>T; p.G640G; 8:22196834-22196834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1803C>A; p.S601S; 8:22196717-22196717	liver	carcinoma	Substitution - coding silent
c.1803C>A; p.S601S; 8:22196717-22196717	liver	carcinoma	Substitution - coding silent
c.817G>A; p.A273T; 8:22177938-22177938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.982G>C; p.D328H; 8:22180388-22180388	urinary_tract; bladder	carcinoma	Substitution - Missense
c.982G>C; p.D328H; 8:22180388-22180388	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2061C>T; p.S687S; 8:22197374-22197374	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.405C>T; p.I135I; 8:22176285-22176285	skin	malignant_melanoma	Substitution - coding silent
c.443G>C; p.R148T; 8:22176542-22176542	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1833_1834insCC; p.N614fs*139; 8:22196747-22196748	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.349C>T; p.R117C; 8:22176229-22176229	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.363G>A; p.A121A; 8:22176243-22176243	breast	carcinoma	Substitution - coding silent
c.363G>A; p.A121A; 8:22176243-22176243	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1193G>A; p.G398E; 8:22194070-22194070	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.1721G>C; p.C574S; 8:22195543-22195543	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1456G>A; p.D486N; 8:22194736-22194736	skin	malignant_melanoma	Substitution - Missense
c.2881G>A; p.D961N; 8:22211648-22211648	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.782_783GG>CT; p.G261A; 8:22177903-22177904	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1231C>T; p.R411C; 8:22194108-22194108	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1050G>A; p.W350*; 8:22180456-22180456	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1684C>T; p.R562W; 8:22195506-22195506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.539A>G; p.Y180C; 8:22176638-22176638	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1322A>G; p.K441R; 8:22194469-22194469	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2276C>A; p.T759N; 8:22206896-22206896	lung	carcinoma; small_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation