| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 712 |
Name | C1QA |
Synonymous | complement component 1, q subcomponent, A chain;C1QA;complement component 1, q subcomponent, A chain |
Definition | complement C1q subcomponent subunit A|complement component 1, q subcomponent, alpha polypeptide|complement component C1q, A chain |
Position | 1p36.12 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.355G>A; p.A119T; 1:22639024-22639024 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.693G>A; p.E231E; 1:22639362-22639362 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.712_713GG>AT; p.G238I; 1:22639381-22639382 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.48G>A; p.S16S; 1:22637664-22637664 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.48G>A; p.S16S; 1:22637664-22637664 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.267delC; p.L91fs*>155; 1:22638936-22638936 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.464T>C; p.V155A; 1:22639133-22639133 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.146G>A; p.G49E; 1:22637762-22637762 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.732T>G; p.S244S; 1:22639401-22639401 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.378delG; p.G128fs*>118; 1:22639047-22639047 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.185G>T; p.G62V; 1:22638854-22638854 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.667A>G; p.K223E; 1:22639336-22639336 |
kidney | other; neoplasm | Substitution - Missense |
c.203G>A; p.G68E; 1:22638872-22638872 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.82G>A; p.A28T; 1:22637698-22637698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.334C>T; p.Q112*; 1:22639003-22639003 |
skin | malignant_melanoma | Substitution - Nonsense |
c.256G>T; p.G86W; 1:22638925-22638925 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.57T>A; p.S19S; 1:22637673-22637673 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.564C>T; p.G188G; 1:22639233-22639233 |
ovary | other; neoplasm | Substitution - coding silent |
c.232A>C; p.N78H; 1:22638901-22638901 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.400G>A; p.D134N; 1:22639069-22639069 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.550C>T; p.R184*; 1:22639219-22639219 |
skin | malignant_melanoma | Substitution - Nonsense |
c.658G>T; p.D220Y; 1:22639327-22639327 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.453C>T; p.F151F; 1:22639122-22639122 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.78C>A; p.C26*; 1:22637694-22637694 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.214G>A; p.E72K; 1:22638883-22638883 |
skin | malignant_melanoma | Substitution - Missense |
c.202G>A; p.G68R; 1:22638871-22638871 |
skin | malignant_melanoma | Substitution - Missense |
c.405G>C; p.T135T; 1:22639074-22639074 |
thyroid | carcinoma | Substitution - coding silent |
c.281G>A; p.R94H; 1:22638950-22638950 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.703G>T; p.V235F; 1:22639372-22639372 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.663C>T; p.P221P; 1:22639332-22639332 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.426A>G; p.E142E; 1:22639095-22639095 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.189delC; p.Q64fs*>182; 1:22638858-22638858 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.124C>T; p.R42W; 1:22637740-22637740 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.341G>A; p.R114K; 1:22639010-22639010 |
skin | malignant_melanoma | Substitution - Missense |
c.414C>T; p.T138T; 1:22639083-22639083 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.720C>G; p.L240L; 1:22639389-22639389 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.562G>A; p.G188S; 1:22639231-22639231 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.526G>A; p.V176I; 1:22639195-22639195 |
skin | malignant_melanoma | Substitution - Missense |
c.653delA; p.D220fs*>26; 1:22639322-22639322 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.653delA; p.D220fs*>26; 1:22639322-22639322 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.653delA; p.D220fs*>26; 1:22639322-22639322 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.302G>A; p.G101D; 1:22638971-22638971 |
breast | carcinoma | Substitution - Missense |
c.93G>A; p.G31G; 1:22637709-22637709 |
skin | malignant_melanoma | Substitution - coding silent |
c.506G>T; p.W169L; 1:22639175-22639175 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.595C>T; p.Q199*; 1:22639264-22639264 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.595C>T; p.Q199*; 1:22639264-22639264 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Nonsense |
c.594C>T; p.F198F; 1:22639263-22639263 |
skin | malignant_melanoma | Substitution - coding silent |
c.696C>T; p.A232A; 1:22639365-22639365 |
pancreas | carcinoma | Substitution - coding silent |
c.696C>T; p.A232A; 1:22639365-22639365 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.635G>A; p.G212D; 1:22639304-22639304 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.682C>T; p.Q228*; 1:22639351-22639351 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.109G>T; p.G37*; 1:22637725-22637725 |
autonomic_ganglia | neuroblastoma | Substitution - Nonsense |
c.21G>T; p.W7C; 1:22637637-22637637 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.163+2T>G; p.?; 1:22637781-22637781 |
skin; extremity | malignant_melanoma | Unknown |
c.557C>T; p.S186F; 1:22639226-22639226 |
skin | malignant_melanoma | Substitution - Missense |
c.636T>C; p.G212G; 1:22639305-22639305 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.585G>T; p.K195N; 1:22639254-22639254 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.522C>T; p.S174S; 1:22639191-22639191 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.630G>A; p.Q210Q; 1:22639299-22639299 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.596A>T; p.Q199L; 1:22639265-22639265 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.276A>G; p.G92G; 1:22638945-22638945 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.276A>G; p.G92G; 1:22638945-22638945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.589C>T; p.L197F; 1:22639258-22639258 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |