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	7508
Symbol	XPC
Synonymous	RAD4\|XP3\|XPCC\|p125
Full name	xeroderma pigmentosum, complementation group C
Gene description	DNA repair protein complementing XP-C cells\|mutant xeroderma pigmentosum group C
Cytoband	3p25.1
Gene type	protein-coding
Synonymous	MIM:613208; HGNC:HGNC:12816; Ensembl:ENSG00000154767; HPRD:02046; Vega:OTTHUMG00000155526

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1414G>C; p.A472P; 3:14158469-14158469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2105T>A; p.V702E; 3:14152345-14152345	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.1380C>T; p.S460S; 3:14158503-14158503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2546A>C; p.K849T; 3:14147348-14147348	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2061G>A; p.R687R; 3:14152389-14152389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2061G>A; p.R687R; 3:14152389-14152389	thyroid	other; neoplasm	Substitution - coding silent
c.101_103delAGG; p.E34delE; 3:14178466-14178468	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.101_103delAGG; p.E34delE; 3:14178466-14178468	skin	malignant_melanoma	Deletion - In frame
c.101_103delAGG; p.E34delE; 3:14178466-14178468	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.2067G>A; p.T689T; 3:14152383-14152383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.584A>C; p.K195T; 3:14167206-14167206	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.101_103delAGG; p.E34delE; 3:14178466-14178468	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1317T>A; p.A439A; 3:14158566-14158566	liver	carcinoma	Substitution - coding silent
c.1317T>A; p.A439A; 3:14158566-14158566	liver	carcinoma	Substitution - coding silent
c.59A>T; p.K20I; 3:14178510-14178510	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1318G>T; p.G440C; 3:14158565-14158565	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2544G>T; p.W848C; 3:14147350-14147350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.321G>T; p.K107N; 3:14170529-14170529	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1496C>T; p.A499V; 3:14158387-14158387	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1310A>T; p.D437V; 3:14158573-14158573	ovary	other; neoplasm	Substitution - Missense
c.671G>A; p.C224Y; 3:14165536-14165536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2046C>T; p.H682H; 3:14152404-14152404	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.507G>A; p.T169T; 3:14168286-14168286	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2144G>A; p.R715Q; 3:14148920-14148920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.810A>C; p.E270D; 3:14164903-14164903	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1361A>C; p.D454A; 3:14158522-14158522	breast	carcinoma	Substitution - Missense
c.1227G>T; p.Q409H; 3:14158656-14158656	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2172G>A; p.L724L; 3:14148892-14148892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1984G>A; p.E662K; 3:14156384-14156384	breast	carcinoma	Substitution - Missense
c.572G>A; p.R191Q; 3:14167218-14167218	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2472C>A; p.A824A; 3:14147950-14147950	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1922A>G; p.Y641C; 3:14156446-14156446	prostate	carcinoma	Substitution - Missense
c.1547A>T; p.D516V; 3:14158336-14158336	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2404G>A; p.G802S; 3:14148578-14148578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.308C>A; p.P103Q; 3:14170542-14170542	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1169G>A; p.R390K; 3:14158714-14158714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1765_1766TG>CA; p.W589Q; 3:14158117-14158118	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1284G>A; p.V428V; 3:14158599-14158599	pancreas	carcinoma	Substitution - coding silent
c.2311T>G; p.C771G; 3:14148671-14148671	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2655T>C; p.D885D; 3:14146109-14146109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.878G>A; p.R293Q; 3:14164835-14164835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1881T>A; p.A627A; 3:14156487-14156487	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2116-1G>T; p.?; 3:14148949-14148949	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1242G>A; p.Q414Q; 3:14158641-14158641	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.826C>T; p.Q276*; 3:14164887-14164887	oesophagus	carcinoma	Substitution - Nonsense
c.2722C>T; p.R908*; 3:14146042-14146042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.789A>G; p.G263G; 3:14164924-14164924	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1629A>G; p.V543V; 3:14158254-14158254	thyroid	other; neoplasm	Substitution - coding silent
c.1554G>C; p.E518D; 3:14158329-14158329	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2049T>A; p.T683T; 3:14152401-14152401	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2590C>G; p.R864G; 3:14147304-14147304	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.537-1G>A; p.?; 3:14167254-14167254	breast	carcinoma	Unknown
c.1160A>C; p.K387T; 3:14158723-14158723	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2781G>T; p.K927N; 3:14145983-14145983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1283T>G; p.V428G; 3:14158600-14158600	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2365G>T; p.D789Y; 3:14148617-14148617	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.46C>G; p.L16V; 3:14178523-14178523	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2514+6C>T; p.?; 3:14147902-14147902	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.1442A>G; p.K481R; 3:14158441-14158441	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1638C>G; p.D546E; 3:14158245-14158245	thyroid	other; neoplasm	Substitution - Missense
c.1325G>A; p.G442D; 3:14158558-14158558	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1415delC; p.A472fs*54; 3:14158468-14158468	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2269G>C; p.G757R; 3:14148713-14148713	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2012G>A; p.R671H; 3:14156356-14156356	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.895G>A; p.V299I; 3:14164818-14164818	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; non_functioning	Substitution - Missense
c.1757A>G; p.D586G; 3:14158126-14158126	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1271T>G; p.V424G; 3:14158612-14158612	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1271T>G; p.V424G; 3:14158612-14158612	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1271T>G; p.V424G; 3:14158612-14158612	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.439G>A; p.V147M; 3:14168354-14168354	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1271T>G; p.V424G; 3:14158612-14158612	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1271T>G; p.V424G; 3:14158612-14158612	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1271T>G; p.V424G; 3:14158612-14158612	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2072T>C; p.L691P; 3:14152378-14152378	liver	carcinoma	Substitution - Missense
c.1271T>G; p.V424G; 3:14158612-14158612	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2145G>A; p.R715R; 3:14148919-14148919	breast	carcinoma	Substitution - coding silent
c.955C>A; p.L319I; 3:14159776-14159776	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.919C>T; p.R307W; 3:14159812-14159812	pancreas	carcinoma	Substitution - Missense
c.1854G>A; p.E618E; 3:14158029-14158029	skin	malignant_melanoma	Substitution - coding silent
c.378G>A; p.E126E; 3:14170472-14170472	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1931A>C; p.H644P; 3:14156437-14156437	breast	carcinoma	Substitution - Missense
c.199G>T; p.A67S; 3:14172967-14172967	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2815C>A; p.Q939K; 3:14145949-14145949	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1630T>G; p.C544G; 3:14158253-14158253	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1755C>T; p.Y585Y; 3:14158128-14158128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1376A>T; p.D459V; 3:14158507-14158507	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1953G>A; p.R651R; 3:14156415-14156415	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2272A>G; p.N758D; 3:14148710-14148710	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2186A>T; p.D729V; 3:14148878-14148878	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2481T>C; p.N827N; 3:14147941-14147941	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2196G>A; p.L732L; 3:14148868-14148868	breast	carcinoma	Substitution - coding silent
c.1057G>T; p.V353F; 3:14158826-14158826	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1497G>A; p.A499A; 3:14158386-14158386	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.316C>T; p.L106F; 3:14170534-14170534	skin	malignant_melanoma	Substitution - Missense
c.1083G>A; p.K361K; 3:14158800-14158800	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1294G>C; p.E432Q; 3:14158589-14158589	breast	carcinoma	Substitution - Missense
c.111T>C; p.F37F; 3:14173055-14173055	skin	malignant_melanoma	Substitution - coding silent
c.2419G>A; p.V807M; 3:14148563-14148563	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1637A>T; p.D546V; 3:14158246-14158246	thyroid	other; neoplasm	Substitution - Missense
c.2017G>A; p.E673K; 3:14156351-14156351	breast	carcinoma	Substitution - Missense
c.1149G>A; p.G383G; 3:14158734-14158734	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1363C>T; p.P455S; 3:14158520-14158520	skin	malignant_melanoma	Substitution - Missense
c.362A>G; p.D121G; 3:14170488-14170488	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.362A>G; p.D121G; 3:14170488-14170488	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.362A>G; p.D121G; 3:14170488-14170488	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.351C>A; p.T117T; 3:14170499-14170499	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2651C>T; p.S884F; 3:14146113-14146113	oesophagus	carcinoma	Substitution - Missense
c.316C>A; p.L106I; 3:14170534-14170534	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.506C>T; p.T169M; 3:14168287-14168287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2627C>A; p.T876K; 3:14146137-14146137	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.17C>T; p.A6V; 3:14178552-14178552	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.574A>G; p.R192G; 3:14167216-14167216	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2411C>T; p.S804F; 3:14148571-14148571	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2392G>C; p.D798H; 3:14148590-14148590	breast	carcinoma	Substitution - Missense
c.2237C>A; p.A746D; 3:14148827-14148827	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.578C>T; p.A193V; 3:14167212-14167212	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2581C>A; p.L861M; 3:14147313-14147313	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1240C>A; p.Q414K; 3:14158643-14158643	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2224C>G; p.Q742E; 3:14148840-14148840	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2224C>G; p.Q742E; 3:14148840-14148840	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1386T>C; p.P462P; 3:14158497-14158497	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.308C>T; p.P103L; 3:14170542-14170542	liver	carcinoma	Substitution - Missense
c.308C>T; p.P103L; 3:14170542-14170542	liver	carcinoma	Substitution - Missense
c.1812C>T; p.A604A; 3:14158071-14158071	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.996G>T; p.K332N; 3:14158887-14158887	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1780_1781insT; p.R594fs*6; 3:14158102-14158103	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1766G>C; p.W589S; 3:14158117-14158117	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1178G>A; p.R393Q; 3:14158705-14158705	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.363C>A; p.D121E; 3:14170487-14170487	ovary	carcinoma; serous_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation