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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 472 |
Name | ATM |
Synonymous | AT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1;ataxia telangiectasia mutated;ATM;ataxia telangiectasia mutated |
Definition | A-T mutated|AT mutated|TEL1, telomere maintenance 1, homolog|serine-protein kinase ATM |
Position | 11q22-q23 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.5380C>T; 11:107678850-107678850 |
y; lung | non_small_cell_carcinoma; carcinoma |
Substitution - coding silent; c.1416A>G; |
y; upper_aerodigestive_tract; larynx | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.5421G>A; |
y | NS |
Substitution - coding silent; c.2805G>A; 11:107644513-107644513 |
breast | lobular_carcinoma; carcinoma |
Substitution - coding silent; c.1761T>C; |
y; breast | carcinoma |
Substitution - coding silent; c.5380C>T; 11:107678850-107678850 |
y; lung | non_small_cell_carcinoma; carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.1058_1059delGT; 11:107623057-107623058 |
haematopoietic_and_lymphoid_ti | chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma; lymphoid_neoplasm |
Deletion - In frame; c.7636_7644del9; 11:107707822-107707830 |
haematopoietic_and_lymphoid_ti | T_cell_prolymphocytic_leukaemia; lymphoid_neoplasm |
Deletion - Frameshift; c.5203_5210delACCTGTTT; 11:107677610-107677617 |
haematopoietic_and_lymphoid_ti; lymph_node | mantle_cell_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.7196delA; 11:107705064-107705064 |
haematopoietic_and_lymphoid_ti; lymph_node | mantle_cell_lymphoma; lymphoid_neoplasm |
Deletion - In frame; c.8732_8734delCCA; 11:107729763-107729765 |
haematopoietic_and_lymphoid_ti; lymph_node | mantle_cell_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.73_76delAAAG; 11:107603713-107603716 |
haematopoietic_and_lymphoid_ti | mantle_cell_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.1564_1565delGA; 11:107626966-107626967 |
haematopoietic_and_lymphoid_ti | mantle_cell_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.1058_1059delGT; 11:107623057-107623058 |
haematopoietic_and_lymphoid_ti | chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.3706_3709delTTTA; 11:107658776-107658779 |
haematopoietic_and_lymphoid_ti; lymph_node | mantle_cell_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.8395_8404delTTTCAGTGCC; 11:107719285-107719294 |
n; lung | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.5486delC; 11:107678956-107678956 |
n; lung | adenocarcinoma; carcinoma |
Deletion - In frame; c.8430_8432delAAA; 11:107721691-107721693 |
haematopoietic_and_lymphoid_ti | T_cell_prolymphocytic_leukaemia; lymphoid_neoplasm |
Deletion - In frame; c.3873_3992del120; 11:107660290-107660409 |
haematopoietic_and_lymphoid_ti | T_cell_prolymphocytic_leukaemia; lymphoid_neoplasm |
Deletion - Frameshift; c.2684delT; 11:107644392-107644392 |
haematopoietic_and_lymphoid_ti; lymph_node | mantle_cell_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.3625_3626delTT; 11:107658695-107658696 |
haematopoietic_and_lymphoid_ti; lymph_node | mantle_cell_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.6709_6710delAA; 11:107701383-107701384 |
haematopoietic_and_lymphoid_ti | mantle_cell_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.6638delA; 11:107701312-107701312 |
haematopoietic_and_lymphoid_ti | mantle_cell_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.451delT; 11:107611726-107611726 |
kidney | clear_cell_renal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.8412delA; 11:107719302-107719302 |
haematopoietic_and_lymphoid_ti | chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.3910_3916delAGAGACA; 11:107660327-107660333 |
haematopoietic_and_lymphoid_ti | chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.8833_8866del34; |
haematopoietic_and_lymphoid_ti | chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.5290delC; 11:107677697-107677697 |
haematopoietic_and_lymphoid_ti | chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.2563_2566delATGA; 11:107643204-107643207 |
breast | carcinoma |
Deletion - Frameshift; c.5047_5051delTTCTC; 11:107675692-107675696 |
haematopoietic_and_lymphoid_ti; lymph_node | mantle_cell_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.73_73delA; 11:107603713-107603713 |
haematopoietic_and_lymphoid_ti | acute_myeloid_leukaemia_associated_with_MDS; haematopoietic_neoplasm |
Deletion - Frameshift; c.6815delA; 11:107702002-107702002 |
haematopoietic_and_lymphoid_ti | chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.5122delC; 11:107675767-107675767 |
haematopoietic_and_lymphoid_ti; lymph_node | mantle_cell_lymphoma; lymphoid_neoplasm |
Deletion - Frameshift; c.1562_1563delGA; 11:107626964-107626965 |
haematopoietic_and_lymphoid_ti; lymph_node | peripheral_T_cell_lymphoma_unspecified; lymphoid_neoplasm |
Deletion - Frameshift; c.2119_2123delTCTGA; 11:107629971-107629975 |
haematopoietic_and_lymphoid_ti | T_cell_prolymphocytic_leukaemia; lymphoid_neoplasm |
Other Mutation | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Complex - deletion inframe; c.2077_2098>G; 11:107629929-107629950 |
haematopoietic_and_lymphoid_ti; lymph_node | mantle_cell_lymphoma; lymphoid_neoplasm |
Complex - deletion inframe; c.8613_8615delACA; 11:107723244-107723246 |
haematopoietic_and_lymphoid_ti | T_cell_prolymphocytic_leukaemia; lymphoid_neoplasm |
Complex - deletion inframe; c.4834_4858>T; 11:107670921-107670945 |
haematopoietic_and_lymphoid_ti; lymph_node | mantle_cell_lymphoma; lymphoid_neoplasm |
Complex - deletion inframe; c.503_508delTCTCTG; 11:107619896-107619901 |
haematopoietic_and_lymphoid_ti; lymph_node | mantle_cell_lymphoma; lymphoid_neoplasm |
Whole gene deletion; c.1_9171del9171; |
haematopoietic_and_lymphoid_ti | acute_myeloid_leukaemia; haematopoietic_neoplasm |