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	6470
Symbol	SHMT1
Synonymous	CSHMT\|SHMT
Full name	serine hydroxymethyltransferase 1 (soluble)
Gene description	cytoplasmic serine hydroxymethyltransferase\|glycine hydroxymethyltransferase\|serine hydroxymethyltransferase, cytosolic\|serine methylase
Cytoband	17p11.2
Gene type	protein-coding
Synonymous	MIM:182144; HGNC:HGNC:10850; Ensembl:ENSG00000176974; HPRD:01643; Vega:OTTHUMG00000059094

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.640C>G; p.L214V; 17:18340217-18340217	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.438G>T; p.G146G; 17:18347577-18347577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.647A>G; p.K216R; 17:18340210-18340210	thyroid	other; neoplasm	Substitution - Missense
c.664G>T; p.G222W; 17:18340193-18340193	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1376C>T; p.A459V; 17:18328826-18328826	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1186C>G; p.L396V; 17:18329374-18329374	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1186C>G; p.L396V; 17:18329374-18329374	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.295C>T; p.R99*; 17:18348388-18348388	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.351C>A; p.P117P; 17:18348332-18348332	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.343G>T; p.V115F; 17:18348340-18348340	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.437G>A; p.G146E; 17:18347578-18347578	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.738_739insTAAA; p.H247fs*1; 17:18340118-18340119	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1397A>G; p.E466G; 17:18328805-18328805	breast	carcinoma	Substitution - Missense
c.168C>T; p.F56F; 17:18353746-18353746	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1206G>C; p.R402R; 17:18329354-18329354	breast	carcinoma	Substitution - coding silent
c.225G>T; p.E75D; 17:18353689-18353689	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1164C>T; p.T388T; 17:18330562-18330562	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.869C>T; p.S290F; 17:18335621-18335621	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1312G>A; p.D438N; 17:18328890-18328890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1399G>A; p.E467K; 17:18328803-18328803	skin	malignant_melanoma	Substitution - Missense
c.159G>A; p.S53S; 17:18353755-18353755	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1377G>A; p.A459A; 17:18328825-18328825	thyroid	carcinoma	Substitution - coding silent
c.668C>T; p.A223V; 17:18340189-18340189	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1077C>T; p.I359I; 17:18330649-18330649	skin	malignant_melanoma	Substitution - coding silent
c.1226C>T; p.T409M; 17:18329334-18329334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.432G>A; p.P144P; 17:18347583-18347583	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.432G>A; p.P144P; 17:18347583-18347583	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1190G>A; p.R397Q; 17:18329370-18329370	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.843C>T; p.G281G; 17:18335647-18335647	breast	carcinoma	Substitution - coding silent
c.442C>T; p.H148Y; 17:18347573-18347573	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.409C>T; p.R137C; 17:18347606-18347606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.500T>G; p.F167C; 17:18347515-18347515	skin	malignant_melanoma	Substitution - Missense
c.815-1G>T; p.?; 17:18335676-18335676	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.664G>A; p.G222R; 17:18340193-18340193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.233C>A; p.P78Q; 17:18353681-18353681	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.437G>T; p.G146V; 17:18347578-18347578	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1204C>T; p.R402W; 17:18329356-18329356	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1090C>A; p.R364S; 17:18330636-18330636	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.193C>A; p.L65I; 17:18353721-18353721	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1227G>A; p.T409T; 17:18329333-18329333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.175C>T; p.R59*; 17:18353739-18353739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.681G>T; p.A227A; 17:18340176-18340176	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.396G>T; p.V132V; 17:18347619-18347619	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.39C>T; p.D13D; 17:18355943-18355943	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.847G>T; p.E283*; 17:18335643-18335643	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.249T>C; p.Y83Y; 17:18348434-18348434	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.242+7G>A; p.?; 17:18353665-18353665	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.242+7G>A; p.?; 17:18353665-18353665	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.249T>C; p.Y83Y; 17:18348434-18348434	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.256A>G; p.T86A; 17:18348427-18348427	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.971T>G; p.F324C; 17:18333249-18333249	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.971T>G; p.F324C; 17:18333249-18333249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.524A>G; p.N175S; 17:18340809-18340809	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.440delG; p.G147fs*3; 17:18347575-18347575	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.698G>A; p.S233N; 17:18340159-18340159	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.371A>T; p.N124I; 17:18347644-18347644	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.615C>A; p.Y205*; 17:18340242-18340242	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.96+6A>G; p.?; 17:18355880-18355880	liver	carcinoma	Unknown
c.96+6A>G; p.?; 17:18355880-18355880	liver	carcinoma	Unknown
c.1420C>T; p.L474F; 17:18328782-18328782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1420C>T; p.L474F; 17:18328782-18328782	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1162A>T; p.T388S; 17:18330564-18330564	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1423T>G; p.F475V; 17:18328779-18328779	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1442C>T; p.P481L; 17:18328760-18328760	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1099G>T; p.G367C; 17:18330627-18330627	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation