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	92421
Symbol	CHMP4C
Synonymous	SNF7-3\|Shax3\|VPS32C
Full name	charged multivesicular body protein 4C
Gene description	SNF7 homolog associated with Alix 3\|Snf7 homologue associated with Alix 3\|charged multivesicular body protein 4c\|chromatin modifying protein 4C\|chromatin-modifying protein 4c\|hSnf7-3\|hVps32-3\|vacuolar protein sorting-associated protein 32-3\|vps32-3
Cytoband	8q21.13
Gene type	protein-coding
Synonymous	MIM:610899; HGNC:HGNC:30599; Ensembl:ENSG00000164695; HPRD:18135; Vega:OTTHUMG00000164726

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.670G>A; p.D224N; 8:81758512-81758512	skin	malignant_melanoma	Substitution - Missense
c.670G>A; p.D224N; 8:81758512-81758512	urinary_tract; bladder	carcinoma	Substitution - Missense
c.670G>A; p.D224N; 8:81758512-81758512	skin	malignant_melanoma	Substitution - Missense
c.409G>A; p.E137K; 8:81755410-81755410	oesophagus	carcinoma	Substitution - Missense
c.651G>A; p.R217R; 8:81758493-81758493	skin	malignant_melanoma	Substitution - coding silent
c.424G>A; p.A142T; 8:81755425-81755425	central_nervous_system; brain	glioma	Substitution - Missense
c.95C>A; p.T32N; 8:81732721-81732721	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.400G>C; p.E134Q; 8:81755401-81755401	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.400G>C; p.E134Q; 8:81755401-81755401	urinary_tract; bladder	carcinoma	Substitution - Missense
c.369-2A>G; p.?; 8:81755368-81755368	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.368_368+1delTG; p.?; 8:81753241-81753242	breast	carcinoma; ductal_carcinoma	Unknown
c.106C>T; p.L36L; 8:81732732-81732732	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.243G>T; p.Q81H; 8:81753116-81753116	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.452A>G; p.Q151R; 8:81755453-81755453	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.263C>T; p.T88I; 8:81753136-81753136	skin; trunk	malignant_melanoma	Substitution - Missense
c.651G>T; p.R217S; 8:81758493-81758493	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.507A>T; p.E169D; 8:81758165-81758165	skin	malignant_melanoma	Substitution - Missense
c.155C>A; p.A52D; 8:81732781-81732781	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.162C>T; p.A54A; 8:81732788-81732788	skin	malignant_melanoma	Substitution - coding silent
c.98A>G; p.E33G; 8:81732724-81732724	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.564G>T; p.V188V; 8:81758222-81758222	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.369G>T; p.M123I; 8:81755370-81755370	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.630C>T; p.S210S; 8:81758288-81758288	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.368_368+3delTGTG; p.?; 8:81753241-81753244	breast	carcinoma; ductal_carcinoma	Unknown
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.216G>T; p.K72N; 8:81753089-81753089	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.694G>A; p.A232T; 8:81758536-81758536	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49C>G; p.R17G; 8:81732675-81732675	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.312G>T; p.E104D; 8:81753185-81753185	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.64C>T; p.P22S; 8:81732690-81732690	NS	malignant_melanoma	Substitution - Missense
c.517C>T; p.Q173*; 8:81758175-81758175	liver	carcinoma	Substitution - Nonsense
c.517C>T; p.Q173*; 8:81758175-81758175	liver	carcinoma	Substitution - Nonsense
c.537G>T; p.K179N; 8:81758195-81758195	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.84A>T; p.R28R; 8:81732710-81732710	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.270G>A; p.E90E; 8:81753143-81753143	skin	malignant_melanoma	Substitution - coding silent
c.369-1G>A; p.?; 8:81755369-81755369	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.608T>C; p.M203T; 8:81758266-81758266	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.530A>G; p.N177S; 8:81758188-81758188	NS	NS	Substitution - Missense
c.335C>T; p.A112V; 8:81753208-81753208	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.321G>C; p.R107S; 8:81753194-81753194	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.52G>A; p.A18T; 8:81732678-81732678	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.550C>T; p.R184C; 8:81758208-81758208	breast	carcinoma	Substitution - Missense
c.550C>T; p.R184C; 8:81758208-81758208	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.474_475delCT; p.F159fs*1; 8:81755475-81755476	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.148G>A; p.E50K; 8:81732774-81732774	skin	malignant_melanoma	Substitution - Missense
c.250G>T; p.G84C; 8:81753123-81753123	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.405C>A; p.I135I; 8:81755406-81755406	skin	malignant_melanoma	Substitution - coding silent
c.250G>T; p.G84C; 8:81753123-81753123	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.572C>G; p.S191C; 8:81758230-81758230	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.518A>G; p.Q173R; 8:81758176-81758176	thyroid	other; neoplasm	Substitution - Missense
c.456G>A; p.R152R; 8:81755457-81755457	skin	malignant_melanoma	Substitution - coding silent
c.369G>A; p.M123I; 8:81755370-81755370	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.238A>T; p.T80S; 8:81753111-81753111	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.11T>G; p.L4W; 8:81732637-81732637	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.11T>G; p.L4W; 8:81732637-81732637	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.11T>G; p.L4W; 8:81732637-81732637	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.11T>G; p.L4W; 8:81732637-81732637	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.11T>G; p.L4W; 8:81732637-81732637	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.11T>G; p.L4W; 8:81732637-81732637	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.519G>T; p.Q173H; 8:81758177-81758177	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.557C>T; p.P186L; 8:81758215-81758215	skin	malignant_melanoma	Substitution - Missense
c.65C>T; p.P22L; 8:81732691-81732691	skin	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation