| Gene ID | 84168 |
| Symbol | ANTXR1 |
| Synonymous | ATR|GAPO|TEM8 |
| Full name | anthrax toxin receptor 1 |
| Gene description | 2310008J16Rik|2810405N18Rik|tumor endothelial marker 8 |
| Cytoband | 2p13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:606410; HGNC:HGNC:21014; Ensembl:ENSG00000169604; HPRD:05913; Vega:OTTHUMG00000129575 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.468T>A; p.D156E; 2:69073077-69073077 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1166G>A; p.G389E; 2:69181862-69181862 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.225-2A>T; p.?; 2:69044740-69044740 |
lung | carcinoma; adenocarcinoma | Unknown |
c.664G>A; p.E222K; 2:69090880-69090880 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1676C>T; p.P559L; 2:69245466-69245466 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.528C>A; p.Y176*; 2:69075625-69075625 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6C>T; p.A2A; 2:69013505-69013505 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.253T>C; p.F85L; 2:69044770-69044770 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.242C>T; p.S81F; 2:69044759-69044759 |
skin | malignant_melanoma | Substitution - Missense |
c.1596C>T; p.P532P; 2:69245386-69245386 |
thyroid | other; neoplasm | Substitution - coding silent |
c.749G>A; p.R250H; 2:69102887-69102887 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1601C>T; p.P534L; 2:69245391-69245391 |
skin | malignant_melanoma | Substitution - Missense |
c.492+10G>A; p.?; 2:69073111-69073111 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1670G>C; p.R557P; 2:69245460-69245460 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.492+10G>A; p.?; 2:69073111-69073111 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1653G>T; p.R551S; 2:69245443-69245443 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1030C>T; p.P344S; 2:69152247-69152247 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1261C>T; p.P421S; 2:69182568-69182568 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1511C>G; p.S504C; 2:69245301-69245301 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.295A>G; p.R99G; 2:69044812-69044812 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1329C>T; p.P443P; 2:69182636-69182636 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.76G>A; p.A26T; 2:69013575-69013575 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.142A>G; p.I48V; 2:69013641-69013641 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1131_1132GG>AA; p.V378I; 2:69181827-69181828 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.900C>T; p.N300N; 2:69124592-69124592 |
stomach | adenocarcinoma | Substitution - coding silent |
c.900C>T; p.N300N; 2:69124592-69124592 |
skin | malignant_melanoma | Substitution - coding silent |
c.1345_1346delCC; p.P449fs*17; 2:69182652-69182653 |
skin | malignant_melanoma | Deletion - Frameshift |
c.1516C>T; p.P506S; 2:69245306-69245306 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.957C>T; p.D319D; 2:69152174-69152174 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1269G>T; p.Q423H; 2:69182576-69182576 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.720C>T; p.V240V; 2:69102858-69102858 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.862G>T; p.E288*; 2:69123076-69123076 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.518C>T; p.A173V; 2:69075615-69075615 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1204G>T; p.G402C; 2:69182511-69182511 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1608A>C; p.P536P; 2:69245398-69245398 |
liver | carcinoma | Substitution - coding silent |
c.1355G>A; p.G452E; 2:69193336-69193336 |
skin | malignant_melanoma | Substitution - Missense |
c.1186-1G>T; p.?; 2:69182492-69182492 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1314T>G; p.R438R; 2:69182621-69182621 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1664C>T; p.P555L; 2:69245454-69245454 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.430G>C; p.V144L; 2:69073039-69073039 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1224T>G; p.A408A; 2:69182531-69182531 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.430G>C; p.V144L; 2:69073039-69073039 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.728G>C; p.G243A; 2:69102866-69102866 |
skin | malignant_melanoma | Substitution - Missense |
c.584A>C; p.K195T; 2:69077430-69077430 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1312C>T; p.R438C; 2:69182619-69182619 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1312C>T; p.R438C; 2:69182619-69182619 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.39C>T; p.F13F; 2:69013538-69013538 |
skin | malignant_melanoma | Substitution - coding silent |
c.1312C>T; p.R438C; 2:69182619-69182619 |
stomach | adenocarcinoma | Substitution - Missense |
c.1312C>T; p.R438C; 2:69182619-69182619 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.838C>T; p.L280L; 2:69123052-69123052 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.771C>T; p.C257C; 2:69102909-69102909 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.319G>C; p.E107Q; 2:69070669-69070669 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1435-5T>A; p.?; 2:69245220-69245220 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.702A>G; p.G234G; 2:69090918-69090918 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.938C>T; p.T313I; 2:69124630-69124630 |
large_intestine; colon | NS | Substitution - Missense |
c.263G>A; p.R88Q; 2:69044780-69044780 |
skin | malignant_melanoma | Substitution - Missense |
c.938C>T; p.T313I; 2:69124630-69124630 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.779A>C; p.K260T; 2:69102917-69102917 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1264G>A; p.E422K; 2:69182571-69182571 |
skin | malignant_melanoma | Substitution - Missense |
c.575C>T; p.A192V; 2:69077421-69077421 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.560A>T; p.Q187L; 2:69075657-69075657 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1326C>T; p.S442S; 2:69182633-69182633 |
skin; upper_back | malignant_melanoma | Substitution - coding silent |
c.1326C>T; p.S442S; 2:69182633-69182633 |
skin | malignant_melanoma | Substitution - coding silent |
c.352A>C; p.T118P; 2:69070702-69070702 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.801C>T; p.L267L; 2:69102939-69102939 |
skin; upper_leg | malignant_melanoma | Substitution - coding silent |
c.1315C>T; p.R439W; 2:69182622-69182622 |
skin | malignant_melanoma | Substitution - Missense |
c.1601C>A; p.P534Q; 2:69245391-69245391 |
thyroid | other; neoplasm | Substitution - Missense |
c.1325C>T; p.S442F; 2:69182632-69182632 |
skin | malignant_melanoma | Substitution - Missense |
c.1567C>T; p.P523S; 2:69245357-69245357 |
skin | malignant_melanoma | Substitution - Missense |
c.1325C>T; p.S442F; 2:69182632-69182632 |
skin | malignant_melanoma | Substitution - Missense |
c.359T>C; p.M120T; 2:69070709-69070709 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1517C>T; p.P506L; 2:69245307-69245307 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1126C>T; p.P376S; 2:69181822-69181822 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1353G>T; p.K451N; 2:69182660-69182660 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1353G>T; p.K451N; 2:69182660-69182660 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1161C>T; p.G387G; 2:69181857-69181857 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1263G>A; p.P421P; 2:69182570-69182570 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.812C>G; p.P271R; 2:69123026-69123026 |
stomach | adenocarcinoma | Substitution - Missense |
c.1390G>T; p.G464*; 2:69193371-69193371 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.308G>A; p.R103H; 2:69070658-69070658 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1497C>T; p.N499N; 2:69245287-69245287 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.766C>A; p.L256I; 2:69102904-69102904 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1061T>C; p.V354A; 2:69170261-69170261 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.722T>G; p.V241G; 2:69102860-69102860 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.996G>T; p.L332L; 2:69152213-69152213 |
pancreas | carcinoma | Substitution - coding silent |
c.1130C>T; p.T377M; 2:69181826-69181826 |
breast | carcinoma | Substitution - Missense |
c.72C>T; p.I24I; 2:69013571-69013571 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.848C>T; p.A283V; 2:69123062-69123062 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1400G>A; p.R467H; 2:69193381-69193381 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.491A>G; p.E164G; 2:69073100-69073100 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1369T>C; p.L457L; 2:69193350-69193350 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.551A>G; p.N184S; 2:69075648-69075648 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1438C>T; p.R480C; 2:69245228-69245228 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1438C>T; p.R480C; 2:69245228-69245228 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.153-1G>C; p.?; 2:69040043-69040043 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.153-1G>C; p.?; 2:69040043-69040043 |
urinary_tract; bladder | carcinoma | Unknown |
c.1515G>A; p.S505S; 2:69245305-69245305 |
breast | carcinoma | Substitution - coding silent |
c.1515G>A; p.S505S; 2:69245305-69245305 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.262C>T; p.R88*; 2:69044779-69044779 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.1438C>T; p.R480C; 2:69245228-69245228 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1438C>T; p.R480C; 2:69245228-69245228 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.627A>G; p.Q209Q; 2:69077473-69077473 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1282C>T; p.P428S; 2:69182589-69182589 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1225A>G; p.K409E; 2:69182532-69182532 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.471C>A; p.L157L; 2:69073080-69073080 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.795C>A; p.V265V; 2:69102933-69102933 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.430G>A; p.V144I; 2:69073039-69073039 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.430G>A; p.V144I; 2:69073039-69073039 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1189C>T; p.R397C; 2:69182496-69182496 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1189C>T; p.R397C; 2:69182496-69182496 |
skin | malignant_melanoma | Substitution - Missense |
c.1189C>T; p.R397C; 2:69182496-69182496 |
skin | malignant_melanoma | Substitution - Missense |
c.1325delC; p.R444fs*18; 2:69182632-69182632 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1189C>T; p.R397C; 2:69182496-69182496 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1189C>T; p.R397C; 2:69182496-69182496 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1178G>T; p.R393I; 2:69181874-69181874 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1608A>T; p.P536P; 2:69245398-69245398 |
thyroid | other; neoplasm | Substitution - coding silent |
c.689C>T; p.T230I; 2:69090905-69090905 |
skin | malignant_melanoma | Substitution - Missense |
c.511C>T; p.L171F; 2:69075608-69075608 |
skin | malignant_melanoma | Substitution - Missense |
c.624G>A; p.L208L; 2:69077470-69077470 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1602G>T; p.P534P; 2:69245392-69245392 |
thyroid | other; neoplasm | Substitution - coding silent |
c.601G>A; p.V201M; 2:69077447-69077447 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.621T>C; p.A207A; 2:69077467-69077467 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1276G>A; p.E426K; 2:69182583-69182583 |
skin | malignant_melanoma | Substitution - Missense |
c.1388A>C; p.K463T; 2:69193369-69193369 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1043C>T; p.T348I; 2:69152260-69152260 |
NS | malignant_melanoma | Substitution - Missense |
c.1245T>C; p.N415N; 2:69182552-69182552 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1043C>T; p.T348I; 2:69152260-69152260 |
NS | malignant_melanoma | Substitution - Missense |
c.952-8C>T; p.?; 2:69152161-69152161 |
skin; trunk | malignant_melanoma; nodular | Unknown |
c.320A>G; p.E107G; 2:69070670-69070670 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1078G>A; p.E360K; 2:69170278-69170278 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.574G>A; p.A192T; 2:69077420-69077420 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.117C>T; p.C39C; 2:69013616-69013616 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.707C>A; p.S236*; 2:69102845-69102845 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1606C>T; p.P536S; 2:69245396-69245396 |
thyroid | other; neoplasm | Substitution - Missense |
c.721G>A; p.V241M; 2:69102859-69102859 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1292G>A; p.R431Q; 2:69182599-69182599 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.996G>A; p.L332L; 2:69152213-69152213 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.427A>T; p.S143C; 2:69073036-69073036 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.996G>A; p.L332L; 2:69152213-69152213 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1316G>A; p.R439Q; 2:69182623-69182623 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1281C>T; p.F427F; 2:69182588-69182588 |
skin | malignant_melanoma | Substitution - coding silent |
c.166C>T; p.L56L; 2:69040057-69040057 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.382A>T; p.S128C; 2:69071757-69071757 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.297A>G; p.R99R; 2:69070647-69070647 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.553G>A; p.E185K; 2:69075650-69075650 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.321A>G; p.E107E; 2:69070671-69070671 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1567_1568CC>TT; p.P523F; 2:69245357-69245358 |
skin | malignant_melanoma | Substitution - Missense |
c.1089G>A; p.E363E; 2:69170289-69170289 |
skin | malignant_melanoma | Substitution - coding silent |
c.1553C>T; p.A518V; 2:69245343-69245343 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |