| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 27248 |
Name | ERLEC1 |
Synonymous | endoplasmic reticulum lectin 1;ERLEC1;endoplasmic reticulum lectin 1 |
Definition | ER lectin|XTP3-transactivated gene B protein|XTP3-transactivated protein B|cancer invasion and metastasis-related|epididymis luminal protein 117|erlectin 1 |
Position | 2p16.2 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1124C>A; p.S375Y; 2:53812971-53812971 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.952G>C; p.V318L; 2:53808371-53808371 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1395G>A; p.V465V; 2:53817912-53817912 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1169C>A; p.A390D; 2:53813016-53813016 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.81G>A; p.A27A; 2:53787291-53787291 |
oesophagus | carcinoma | Substitution - coding silent |
c.307C>A; p.L103I; 2:53795972-53795972 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.322T>C; p.F108L; 2:53795987-53795987 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.991G>A; p.D331N; 2:53808410-53808410 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1237C>T; p.H413Y; 2:53814553-53814553 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.736C>G; p.H246D; 2:53801607-53801607 |
breast | carcinoma | Substitution - Missense |
c.394C>T; p.R132W; 2:53797560-53797560 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.891A>G; p.Q297Q; 2:53808310-53808310 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.891A>G; p.Q297Q; 2:53808310-53808310 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1439C>A; p.S480Y; 2:53817956-53817956 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.569C>A; p.P190H; 2:53801440-53801440 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1036C>T; p.R346C; 2:53808455-53808455 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1227-2A>G; p.?; 2:53814541-53814541 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.529C>A; p.P177T; 2:53801400-53801400 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.31C>G; p.L11V; 2:53787241-53787241 |
thyroid | carcinoma | Substitution - Missense |
c.549T>C; p.G183G; 2:53801420-53801420 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.616C>T; p.P206S; 2:53801487-53801487 |
skin | malignant_melanoma | Substitution - Missense |
c.609G>A; p.Q203Q; 2:53801480-53801480 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1063G>A; p.E355K; 2:53809235-53809235 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.484G>C; p.E162Q; 2:53797789-53797789 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.811C>G; p.P271A; 2:53801774-53801774 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1207G>A; p.D403N; 2:53813054-53813054 |
breast | carcinoma | Substitution - Missense |
c.1207G>A; p.D403N; 2:53813054-53813054 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.750-1G>A; p.?; 2:53801712-53801712 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.1031G>T; p.C344F; 2:53808450-53808450 |
breast | carcinoma | Substitution - Missense |
c.1262G>C; p.C421S; 2:53814578-53814578 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.118G>A; p.D40N; 2:53787328-53787328 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1047C>T; p.V349V; 2:53809219-53809219 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.905A>G; p.E302G; 2:53808324-53808324 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.450C>T; p.Y150Y; 2:53797755-53797755 |
skin | malignant_melanoma | Substitution - coding silent |
c.1096C>A; p.H366N; 2:53809268-53809268 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7G>A; p.E3K; 2:53787217-53787217 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1110T>A; p.D370E; 2:53812957-53812957 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1381G>A; p.V461I; 2:53817898-53817898 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.832G>C; p.E278Q; 2:53801795-53801795 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.529C>T; p.P177S; 2:53801400-53801400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.906G>A; p.E302E; 2:53808325-53808325 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.587G>A; p.G196D; 2:53801458-53801458 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.761C>A; p.S254Y; 2:53801724-53801724 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.14G>A; p.G5D; 2:53787224-53787224 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.670C>A; p.L224I; 2:53801541-53801541 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1280C>T; p.P427L; 2:53814596-53814596 |
skin | malignant_melanoma | Substitution - Missense |
c.1085T>C; p.V362A; 2:53809257-53809257 |
pancreas | carcinoma | Substitution - Missense |
c.1085T>C; p.V362A; 2:53809257-53809257 |
pancreas | carcinoma | Substitution - Missense |
c.1436T>C; p.L479P; 2:53817953-53817953 |
stomach | adenocarcinoma | Substitution - Missense |
c.917_928del12; p.H308_I311delHKSI; 2:53808336-53808347 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - In frame |
c.1301T>A; p.L434Q; 2:53814617-53814617 |
skin | malignant_melanoma | Substitution - Missense |
c.1293T>A; p.T431T; 2:53814609-53814609 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1448A>G; p.N483S; 2:53817965-53817965 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.745T>G; p.Y249D; 2:53801616-53801616 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.158C>G; p.S53C; 2:53787368-53787368 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1407C>A; p.I469I; 2:53817924-53817924 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1374T>C; p.I458I; 2:53814929-53814929 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1173G>A; p.K391K; 2:53813020-53813020 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.528T>A; p.I176I; 2:53801399-53801399 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.494G>A; p.R165Q; 2:53799050-53799050 |
large_intestine; colon | NS | Substitution - Missense |
c.63C>T; p.L21L; 2:53787273-53787273 |
thyroid | carcinoma | Substitution - coding silent |
c.1140A>T; p.T380T; 2:53812987-53812987 |
skin | malignant_melanoma | Substitution - coding silent |
c.526-10T>C; p.?; 2:53801387-53801387 |
liver | carcinoma | Unknown |
c.526-10T>C; p.?; 2:53801387-53801387 |
liver | carcinoma | Unknown |
c.501_503delAGA; p.E169delE; 2:53799057-53799059 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.395G>A; p.R132Q; 2:53797561-53797561 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |