| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 6713 |
Name | SQLE |
Synonymous | squalene epoxidase;SQLE;squalene epoxidase |
Definition | SE|squalene monooxygenase |
Position | 8q24.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1480T>C; p.Y494H; 8:125020819-125020819 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.104_106delTCC; p.L36delL; 8:124999507-124999509 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.1459C>A; p.L487I; 8:125020798-125020798 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1191A>T; p.S397S; 8:125011619-125011619 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.882C>T; p.S294S; 8:125009030-125009030 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9T>C; p.T3T; 8:124999412-124999412 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.987G>C; p.P329P; 8:125009222-125009222 |
breast | carcinoma | Substitution - coding silent |
c.859C>T; p.L287F; 8:125009007-125009007 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1681A>G; p.I561V; 8:125021901-125021901 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.129C>T; p.S43S; 8:124999532-124999532 |
skin | malignant_melanoma | Substitution - coding silent |
c.301G>T; p.G101*; 8:125003185-125003185 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1062G>A; p.R354R; 8:125009297-125009297 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1552G>A; p.V518I; 8:125021772-125021772 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1091T>A; p.I364N; 8:125009326-125009326 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.371C>T; p.P124L; 8:125003255-125003255 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463G>A; p.D155N; 8:125003347-125003347 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.371C>T; p.P124L; 8:125003255-125003255 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1603T>C; p.F535L; 8:125021823-125021823 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1357T>C; p.S453P; 8:125018640-125018640 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.172C>T; p.Q58*; 8:124999575-124999575 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1357T>C; p.S453P; 8:125018640-125018640 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.269A>C; p.K90T; 8:124999672-124999672 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.699C>T; p.L233L; 8:125005679-125005679 |
NS | NS | Substitution - coding silent |
c.396C>T; p.G132G; 8:125003280-125003280 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1637C>T; p.A546V; 8:125021857-125021857 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.893A>G; p.N298S; 8:125009041-125009041 |
liver | carcinoma | Substitution - Missense |
c.871T>C; p.F291L; 8:125009019-125009019 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.514T>C; p.Y172H; 8:125003398-125003398 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.296G>A; p.R99K; 8:125003180-125003180 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1160C>T; p.S387F; 8:125011588-125011588 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1562G>A; p.G521E; 8:125021782-125021782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.384C>T; p.I128I; 8:125003268-125003268 |
skin | malignant_melanoma | Substitution - coding silent |
c.32C>A; p.T11N; 8:124999435-124999435 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1208_1210delTTC; p.L406delL; 8:125018062-125018064 |
breast | carcinoma | Deletion - In frame |
c.1006C>T; p.Q336*; 8:125009241-125009241 |
oesophagus | carcinoma | Substitution - Nonsense |
c.1532+1G>A; p.?; 8:125020872-125020872 |
thyroid | carcinoma | Unknown |
c.900T>C; p.V300V; 8:125009048-125009048 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1437C>A; p.A479A; 8:125018720-125018720 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1437C>A; p.A479A; 8:125018720-125018720 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.1699T>G; p.S567A; 8:125021919-125021919 |
liver | carcinoma | Substitution - Missense |
c.1699T>G; p.S567A; 8:125021919-125021919 |
liver | carcinoma | Substitution - Missense |
c.1590C>T; p.A530A; 8:125021810-125021810 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.626C>T; p.P209L; 8:125005606-125005606 |
skin | malignant_melanoma | Substitution - Missense |
c.508G>A; p.G170S; 8:125003392-125003392 |
skin | malignant_melanoma | Substitution - Missense |
c.736A>G; p.I246V; 8:125007401-125007401 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.62T>C; p.I21T; 8:124999465-124999465 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1225G>A; p.A409T; 8:125018079-125018079 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1225G>A; p.A409T; 8:125018079-125018079 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.133C>T; p.R45C; 8:124999536-124999536 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1497C>T; p.G499G; 8:125020836-125020836 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1497C>T; p.G499G; 8:125020836-125020836 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1497C>T; p.G499G; 8:125020836-125020836 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.905T>C; p.V302A; 8:125009053-125009053 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.986C>T; p.P329L; 8:125009221-125009221 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.397G>A; p.V133M; 8:125003281-125003281 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.397G>A; p.V133M; 8:125003281-125003281 |
breast | carcinoma | Substitution - Missense |
c.778G>A; p.V260M; 8:125007443-125007443 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.985C>T; p.P329S; 8:125009220-125009220 |
skin | malignant_melanoma | Substitution - Missense |
c.9T>A; p.T3T; 8:124999412-124999412 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.725A>C; p.N242T; 8:125005705-125005705 |
pancreas | carcinoma | Substitution - Missense |
c.837A>G; p.P279P; 8:125008985-125008985 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.355T>C; p.S119P; 8:125003239-125003239 |
prostate | carcinoma | Substitution - Missense |
c.1150C>T; p.H384Y; 8:125011578-125011578 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.558T>G; p.G186G; 8:125005538-125005538 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.625C>T; p.P209S; 8:125005605-125005605 |
skin | malignant_melanoma | Substitution - Missense |
c.1563A>T; p.G521G; 8:125021783-125021783 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1580C>T; p.A527V; 8:125021800-125021800 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.555A>G; p.E185E; 8:125005535-125005535 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.248delC; p.P85fs*25; 8:124999651-124999651 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.248delC; p.P85fs*25; 8:124999651-124999651 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |