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	1300
Symbol	COL10A1
Synonymous	-
Full name	collagen, type X, alpha 1
Gene description	Schmid metaphyseal chondrodysplasia\|collagen X, alpha-1 polypeptide\|collagen alpha-1(X) chain
Cytoband	6q21-q22
Gene type	protein-coding
Synonymous	MIM:120110; HGNC:HGNC:2185; Ensembl:ENSG00000123500; HPRD:00357

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1143C>T; p.S381S; 6:116120973-116120973	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1525C>T; p.P509S; 6:116120591-116120591	skin	malignant_melanoma	Substitution - Missense
c.167G>A; p.R56K; 6:116121949-116121949	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.361G>T; p.G121*; 6:116121755-116121755	breast	carcinoma	Substitution - Nonsense
c.1296G>A; p.M432I; 6:116120820-116120820	liver	carcinoma	Substitution - Missense
c.368A>G; p.Y123C; 6:116121748-116121748	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.566G>A; p.G189E; 6:116121550-116121550	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1284A>C; p.G428G; 6:116120832-116120832	liver	carcinoma	Substitution - coding silent
c.1284A>C; p.G428G; 6:116120832-116120832	liver	carcinoma	Substitution - coding silent
c.1284A>C; p.G428G; 6:116120832-116120832	liver	carcinoma	Substitution - coding silent
c.1429C>A; p.P477T; 6:116120687-116120687	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1657G>A; p.A553T; 6:116120459-116120459	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.473C>T; p.P158L; 6:116121643-116121643	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.379G>A; p.G127R; 6:116121737-116121737	skin	malignant_melanoma	Substitution - Missense
c.494G>C; p.G165A; 6:116121622-116121622	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.379G>A; p.G127R; 6:116121737-116121737	skin	malignant_melanoma	Substitution - Missense
c.1997_2002delAGTATG; p.E666_Y667delEY; 6:116120114-116120119	liver	carcinoma	Deletion - In frame
c.299C>T; p.P100L; 6:116121817-116121817	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.502G>T; p.G168*; 6:116121614-116121614	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.575delG; p.G192fs*98; 6:116121541-116121541	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.924A>C; p.G308G; 6:116121192-116121192	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.768G>A; p.G256G; 6:116121348-116121348	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.924A>C; p.G308G; 6:116121192-116121192	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1738C>A; p.Q580K; 6:116120378-116120378	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.503G>A; p.G168E; 6:116121613-116121613	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121G>A; p.G374E; 6:116120995-116120995	skin	malignant_melanoma	Substitution - Missense
c.415G>A; p.G139S; 6:116121701-116121701	skin	malignant_melanoma	Substitution - Missense
c.989T>C; p.L330P; 6:116121127-116121127	bone; humerus	chondrosarcoma	Substitution - Missense
c.628C>A; p.P210T; 6:116121488-116121488	pancreas	carcinoma	Substitution - Missense
c.1727A>G; p.Y576C; 6:116120389-116120389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.416G>A; p.G139D; 6:116121700-116121700	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.416G>A; p.G139D; 6:116121700-116121700	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1926C>A; p.I642I; 6:116120190-116120190	pancreas	carcinoma	Substitution - coding silent
c.518C>A; p.P173H; 6:116121598-116121598	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.317G>A; p.G106E; 6:116121799-116121799	skin	malignant_melanoma	Substitution - Missense
c.317G>A; p.G106E; 6:116121799-116121799	skin	malignant_melanoma	Substitution - Missense
c.1722T>G; p.I574M; 6:116120394-116120394	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.318G>A; p.G106G; 6:116121798-116121798	skin	malignant_melanoma	Substitution - coding silent
c.641C>T; p.S214F; 6:116121475-116121475	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.L134L; 6:116121716-116121716	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.769G>A; p.E257K; 6:116121347-116121347	skin	malignant_melanoma	Substitution - Missense
c.1496G>A; p.G499D; 6:116120620-116120620	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1853G>A; p.G618D; 6:116120263-116120263	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1975T>G; p.S659A; 6:116120141-116120141	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1740G>A; p.Q580Q; 6:116120376-116120376	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1972G>T; p.E658*; 6:116120144-116120144	prostate	adenoma	Substitution - Nonsense
c.1012G>A; p.G338R; 6:116121104-116121104	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1463C>A; p.P488H; 6:116120653-116120653	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.968G>A; p.G323E; 6:116121148-116121148	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.708T>C; p.D236D; 6:116121408-116121408	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1987T>C; p.Y663H; 6:116120129-116120129	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.130A>G; p.I44V; 6:116125363-116125363	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.343G>T; p.G115*; 6:116121773-116121773	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.1308T>C; p.N436N; 6:116120808-116120808	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.664delA; p.R222fs*68; 6:116121452-116121452	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.491C>T; p.T164I; 6:116121625-116121625	liver	carcinoma	Substitution - Missense
c.394G>A; p.A132T; 6:116121722-116121722	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.491C>T; p.T164I; 6:116121625-116121625	liver	carcinoma	Substitution - Missense
c.392C>A; p.P131Q; 6:116121724-116121724	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4C>A; p.L2M; 6:116125489-116125489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1069C>T; p.L357F; 6:116121047-116121047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1633G>C; p.G545R; 6:116120483-116120483	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.487C>A; p.P163T; 6:116121629-116121629	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.53G>T; p.G18V; 6:116125440-116125440	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.256G>A; p.G86R; 6:116121860-116121860	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.458C>A; p.S153Y; 6:116121658-116121658	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.659G>A; p.G220E; 6:116121457-116121457	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1027A>T; p.M343L; 6:116121089-116121089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1870A>G; p.T624A; 6:116120246-116120246	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1533G>A; p.G511G; 6:116120583-116120583	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.65C>A; p.A22D; 6:116125428-116125428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.390A>T; p.G130G; 6:116121726-116121726	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.905G>A; p.G302D; 6:116121211-116121211	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.918G>A; p.L306L; 6:116121198-116121198	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.665G>A; p.R222K; 6:116121451-116121451	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1891G>T; p.G631C; 6:116120225-116120225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1040G>A; p.G347E; 6:116121076-116121076	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1510C>T; p.P504S; 6:116120606-116120606	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1510C>T; p.P504S; 6:116120606-116120606	large_intestine; colon	carcinoma	Substitution - Missense
c.1510C>T; p.P504S; 6:116120606-116120606	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1642G>T; p.G548*; 6:116120474-116120474	stomach	adenocarcinoma	Substitution - Nonsense
c.1991C>A; p.S664Y; 6:116120125-116120125	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1023G>A; p.G341G; 6:116121093-116121093	skin	malignant_melanoma	Substitution - coding silent
c.398G>A; p.G133D; 6:116121718-116121718	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1809G>C; p.V603V; 6:116120307-116120307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.373C>T; p.P125S; 6:116121743-116121743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1524G>A; p.G508G; 6:116120592-116120592	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1542C>T; p.G514G; 6:116120574-116120574	bone; humerus	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.657G>A; p.V219V; 6:116121459-116121459	skin	malignant_melanoma	Substitution - coding silent
c.1762A>C; p.I588L; 6:116120354-116120354	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1258C>T; p.L420F; 6:116120858-116120858	breast	carcinoma	Substitution - Missense
c.1963C>T; p.P655S; 6:116120153-116120153	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.773G>A; p.R258Q; 6:116121343-116121343	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.733C>A; p.P245T; 6:116121383-116121383	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.897G>A; p.G299G; 6:116121219-116121219	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2013_2018delTTTCTC; p.F672_S673delFS; 6:116120098-116120103	liver	carcinoma	Deletion - In frame
c.1904A>T; p.Q635L; 6:116120212-116120212	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.71G>A; p.R24Q; 6:116125422-116125422	skin	malignant_melanoma	Substitution - Missense
c.1369C>T; p.P457S; 6:116120747-116120747	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.831_832insT; p.P278fs*77; 6:116121284-116121285	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.220C>T; p.P74S; 6:116121896-116121896	breast	carcinoma	Substitution - Missense
c.1246G>A; p.G416R; 6:116120870-116120870	skin	malignant_melanoma	Substitution - Missense
c.1181C>G; p.P394R; 6:116120935-116120935	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.431C>A; p.P144H; 6:116121685-116121685	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.80T>C; p.M27T; 6:116125413-116125413	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.475G>A; p.G159R; 6:116121641-116121641	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1773T>C; p.C591C; 6:116120343-116120343	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1271T>C; p.V424A; 6:116120845-116120845	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.561G>C; p.Q187H; 6:116121555-116121555	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.761C>T; p.P254L; 6:116121355-116121355	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation