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	83595
Symbol	SOX7
Synonymous	-
Full name	SRY (sex determining region Y)-box 7
Gene description	transcription factor SOX-7
Cytoband	8p23.1
Gene type	protein-coding
Synonymous	MIM:612202; HGNC:HGNC:18196; Ensembl:ENSG00000171056; HPRD:18087; Vega:OTTHUMG00000090585

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.282C>T; p.Y94Y; 8:10726623-10726623	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.558C>T; p.G186G; 8:10726347-10726347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.937G>A; p.D313N; 8:10725968-10725968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.382C>T; p.R128C; 8:10726523-10726523	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.559G>A; p.G187S; 8:10726346-10726346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1124C>T; p.A375V; 8:10725781-10725781	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.135C>T; p.I45I; 8:10730299-10730299	breast	carcinoma	Substitution - coding silent
c.959A>T; p.Q320L; 8:10725946-10725946	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.389A>G; p.D130G; 8:10726516-10726516	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.964G>A; p.E322K; 8:10725941-10725941	skin	malignant_melanoma	Substitution - Missense
c.783C>T; p.A261A; 8:10726122-10726122	skin	malignant_melanoma	Substitution - coding silent
c.646G>T; p.E216*; 8:10726259-10726259	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.421G>T; p.D141Y; 8:10726484-10726484	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.588G>A; p.T196T; 8:10726317-10726317	liver	carcinoma	Substitution - coding silent
c.588G>A; p.T196T; 8:10726317-10726317	liver	carcinoma	Substitution - coding silent
c.732G>T; p.P244P; 8:10726173-10726173	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1078G>C; p.V360L; 8:10725827-10725827	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1039_1040GG>TT; p.G347L; 8:10725865-10725866	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.817C>T; p.P273S; 8:10726088-10726088	skin	malignant_melanoma	Substitution - Missense
c.384C>T; p.R128R; 8:10726521-10726521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.293C>T; p.A98V; 8:10726612-10726612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.997G>A; p.D333N; 8:10725908-10725908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.350G>A; p.R117H; 8:10726555-10726555	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.908T>C; p.L303P; 8:10725997-10725997	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.854C>T; p.S285F; 8:10726051-10726051	skin	malignant_melanoma	Substitution - Missense
c.156C>A; p.F52L; 8:10730278-10730278	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.383G>A; p.R128H; 8:10726522-10726522	stomach	adenocarcinoma	Substitution - Missense
c.854_855CC>TT; p.S285F; 8:10726050-10726051	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.260C>T; p.T87M; 8:10726645-10726645	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.657C>A; p.F219L; 8:10726248-10726248	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.563G>A; p.G188D; 8:10726342-10726342	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.799G>A; p.G267S; 8:10726106-10726106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.298C>T; p.R100W; 8:10726607-10726607	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.377G>C; p.C126S; 8:10726528-10726528	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1088C>T; p.T363M; 8:10725817-10725817	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.839C>T; p.S280F; 8:10726066-10726066	skin	malignant_melanoma	Substitution - Missense
c.1004A>G; p.Y335C; 8:10725901-10725901	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.281A>G; p.Y94C; 8:10726624-10726624	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.273G>C; p.K91N; 8:10726632-10726632	urinary_tract; bladder	carcinoma	Substitution - Missense
c.825C>T; p.P275P; 8:10726080-10726080	breast	carcinoma	Substitution - coding silent
c.556G>T; p.G186C; 8:10726349-10726349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.772G>T; p.G258C; 8:10726133-10726133	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1074C>T; p.S358S; 8:10725831-10725831	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.977A>G; p.D326G; 8:10725928-10725928	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.515C>T; p.P172L; 8:10726390-10726390	skin	malignant_melanoma	Substitution - Missense
c.174C>T; p.D58D; 8:10730260-10730260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.765C>A; p.H255Q; 8:10726140-10726140	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.806C>G; p.S269C; 8:10726099-10726099	skin	malignant_melanoma	Substitution - Missense
c.283G>A; p.V95M; 8:10726622-10726622	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.177G>A; p.E59E; 8:10730257-10730257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.765delC; p.L257fs*14; 8:10726140-10726140	prostate	carcinoma	Deletion - Frameshift
c.1082C>T; p.T361I; 8:10725823-10725823	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.418delC; p.R140fs*131; 8:10726487-10726487	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.769delC; p.L257fs*14; 8:10726136-10726136	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.769delC; p.L257fs*14; 8:10726136-10726136	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.769delC; p.L257fs*14; 8:10726136-10726136	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.769delC; p.L257fs*14; 8:10726136-10726136	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.769delC; p.L257fs*14; 8:10726136-10726136	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.738C>T; p.Y246Y; 8:10726167-10726167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.457C>T; p.R153W; 8:10726448-10726448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.255G>A; p.A85A; 8:10726650-10726650	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.911C>T; p.S304F; 8:10725994-10725994	skin	malignant_melanoma	Substitution - Missense
c.911C>T; p.S304F; 8:10725994-10725994	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1090G>A; p.G364S; 8:10725815-10725815	skin	malignant_melanoma	Substitution - Missense
c.349C>T; p.R117C; 8:10726556-10726556	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.996C>T; p.F332F; 8:10725909-10725909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.833C>T; p.P278L; 8:10726072-10726072	skin	malignant_melanoma	Substitution - Missense
c.996C>T; p.F332F; 8:10725909-10725909	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.996C>T; p.F332F; 8:10725909-10725909	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.458G>A; p.R153Q; 8:10726447-10726447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.458G>A; p.R153Q; 8:10726447-10726447	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.506C>G; p.T169S; 8:10726399-10726399	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.940G>A; p.A314T; 8:10725965-10725965	breast	carcinoma	Substitution - Missense
c.662C>T; p.S221F; 8:10726243-10726243	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.698G>A; p.R233H; 8:10726207-10726207	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.665C>T; p.S222F; 8:10726240-10726240	skin	malignant_melanoma	Substitution - Missense
c.399C>T; p.F133F; 8:10726506-10726506	skin	malignant_melanoma	Substitution - coding silent
c.703C>T; p.P235S; 8:10726202-10726202	skin	malignant_melanoma	Substitution - Missense
c.766C>T; p.P256S; 8:10726139-10726139	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.986G>A; p.R329H; 8:10725919-10725919	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.876C>T; p.L292L; 8:10726029-10726029	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.986G>A; p.R329H; 8:10725919-10725919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1078G>T; p.V360L; 8:10725827-10725827	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.699C>T; p.R233R; 8:10726206-10726206	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.451G>C; p.G151R; 8:10726454-10726454	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.501C>T; p.P167P; 8:10726404-10726404	skin	malignant_melanoma	Substitution - coding silent
c.1098A>G; p.T366T; 8:10725807-10725807	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1113C>G; p.I371M; 8:10725792-10725792	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.348G>A; p.P116P; 8:10726557-10726557	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.462G>C; p.G154G; 8:10726443-10726443	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.398T>G; p.F133C; 8:10726507-10726507	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.246G>A; p.S82S; 8:10726659-10726659	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.395G>A; p.G132D; 8:10726510-10726510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1078G>A; p.V360M; 8:10725827-10725827	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.961G>A; p.V321M; 8:10725944-10725944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.254C>T; p.A85V; 8:10726651-10726651	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.689_690delAT; p.H230fs*24; 8:10726215-10726216	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1134G>A; p.T378T; 8:10725771-10725771	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.724T>C; p.Y242H; 8:10726181-10726181	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.724T>C; p.Y242H; 8:10726181-10726181	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.936C>T; p.F312F; 8:10725969-10725969	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.936C>T; p.F312F; 8:10725969-10725969	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.664T>C; p.S222P; 8:10726241-10726241	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.691C>T; p.P231S; 8:10726214-10726214	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.798C>A; p.P266P; 8:10726107-10726107	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.892G>A; p.A298T; 8:10726013-10726013	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.858G>A; p.P286P; 8:10726047-10726047	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1015C>T; p.P339S; 8:10725890-10725890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1015C>T; p.P339S; 8:10725890-10725890	urinary_tract; bladder	carcinoma	Substitution - Missense
c.890A>C; p.Q297P; 8:10726015-10726015	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.985C>T; p.R329C; 8:10725920-10725920	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.634G>A; p.V212M; 8:10726271-10726271	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.503G>A; p.G168D; 8:10726402-10726402	ovary	other; neoplasm	Substitution - Missense
c.946G>T; p.D316Y; 8:10725959-10725959	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation