| Gene ID | 50848 |
| Symbol | F11R |
| Synonymous | CD321|JAM|JAM1|JAMA|JCAM|KAT|PAM-1 |
| Full name | F11 receptor |
| Gene description | junctional adhesion molecule 1|junctional adhesion molecule A|platelet F11 receptor|platelet adhesion molecule 1 |
| Cytoband | 1q21.2-q21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:605721; HGNC:HGNC:14685; Ensembl:ENSG00000158769; HPRD:12038; Vega:OTTHUMG00000028602 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.549C>A; p.F183L; 1:161000188-161000188 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.249T>C; p.Y83Y; 1:161000770-161000770 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.108T>C; p.P36P; 1:161001310-161001310 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.282C>G; p.I94M; 1:161000737-161000737 |
breast | carcinoma | Substitution - Missense |
c.495C>G; p.T165T; 1:161000242-161000242 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.381C>T; p.I127I; 1:161000638-161000638 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.529C>T; p.P177S; 1:161000208-161000208 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.593T>C; p.V198A; 1:160999977-160999977 |
skin | malignant_melanoma | Substitution - Missense |
c.832G>A; p.V278M; 1:160999075-160999075 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.124G>C; p.E42Q; 1:161001294-161001294 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.21C>G; p.V7V; 1:161021053-161021053 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.598G>C; p.D200H; 1:160999972-160999972 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.158C>T; p.S53L; 1:161001103-161001103 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.27G>T; p.R9S; 1:161021047-161021047 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.22G>C; p.E8Q; 1:161021052-161021052 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.441C>T; p.N147N; 1:161000296-161000296 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.358G>T; p.G120W; 1:161000661-161000661 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.189G>A; p.K63K; 1:161001072-161001072 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.496T>C; p.W166R; 1:161000241-161000241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.666G>T; p.M222I; 1:160999904-160999904 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.301C>T; p.R101W; 1:161000718-161000718 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.725C>T; p.A242V; 1:160999717-160999717 |
skin | malignant_melanoma | Substitution - Missense |
c.725C>T; p.A242V; 1:160999717-160999717 |
skin | malignant_melanoma | Substitution - Missense |
c.482C>T; p.P161L; 1:161000255-161000255 |
skin | malignant_melanoma | Substitution - Missense |
c.428C>T; p.A143V; 1:161000309-161000309 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.896T>G; p.V299G; 1:160998875-160998875 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.172C>T; p.P58S; 1:161001089-161001089 |
skin | malignant_melanoma | Substitution - Missense |
c.267C>T; p.F89F; 1:161000752-161000752 |
skin | malignant_melanoma | Substitution - coding silent |
c.76T>C; p.L26L; 1:161001342-161001342 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.717C>T; p.I239I; 1:160999725-160999725 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.331G>A; p.V111I; 1:161000688-161000688 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.683G>A; p.R228H; 1:160999887-160999887 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.507T>C; p.D169D; 1:161000230-161000230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.478C>T; p.P160S; 1:161000259-161000259 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.671C>T; p.S224L; 1:160999899-160999899 |
skin | malignant_melanoma | Substitution - Missense |
c.601C>T; p.P201S; 1:160999969-160999969 |
skin | malignant_melanoma | Substitution - Missense |
c.339G>A; p.E113E; 1:161000680-161000680 |
skin | malignant_melanoma | Substitution - coding silent |
c.621T>C; p.T207T; 1:160999949-160999949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.388+5G>A; p.?; 1:161000626-161000626 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.857G>A; p.R286Q; 1:160999050-160999050 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.494C>G; p.T165S; 1:161000243-161000243 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.662C>A; p.P221H; 1:160999908-160999908 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.857G>A; p.R286Q; 1:160999050-160999050 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.295G>C; p.V99L; 1:161000724-161000724 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.554A>G; p.N185S; 1:161000183-161000183 |
breast | carcinoma | Substitution - Missense |
c.738C>T; p.T246T; 1:160999704-160999704 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.524C>T; p.T175M; 1:161000213-161000213 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.524C>T; p.T175M; 1:161000213-161000213 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.884C>T; p.S295L; 1:160998887-160998887 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.603C>T; p.P201P; 1:160999967-160999967 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.40C>T; p.L14F; 1:161021034-161021034 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.358G>A; p.G120R; 1:161000661-161000661 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.358G>A; p.G120R; 1:161000661-161000661 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.70C>T; p.L24L; 1:161001348-161001348 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.293C>T; p.S98F; 1:161000726-161000726 |
skin | malignant_melanoma | Substitution - Missense |
c.294C>T; p.S98S; 1:161000725-161000725 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.294C>T; p.S98S; 1:161000725-161000725 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.137T>C; p.V46A; 1:161001124-161001124 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.893T>G; p.L298R; 1:160998878-160998878 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.131A>G; p.N44S; 1:161001287-161001287 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.237C>A; p.I79I; 1:161001024-161001024 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.216C>T; p.L72L; 1:161001045-161001045 |
skin | malignant_melanoma | Substitution - coding silent |
c.561C>A; p.S187S; 1:161000176-161000176 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7A>G; p.T3A; 1:161021067-161021067 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1A>T; p.M1L; 1:161021073-161021073 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.65-3T>C; p.?; 1:161001356-161001356 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |