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General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

2120

Name

ETV6

Synonymous

TEL|TEL/ABL;ets variant 6;ETV6;ets variant 6

Definition

ETS translocation variant 6|ETS-related protein Tel1|TEL1 oncogene|ets variant gene 6 (TEL oncogene)|transcription factor ETV6

Position

12p13

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

Variant (Variant; Chr; Position)

Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)

Disease (CancerType; ValidationStatus; SequencingType)

ETV6_R378*; chr12; 12037501

 SUB; NONSENSE; C; C/T; GERMLINET-ALL; VALID;

PCGP somatic mutation   [Top]

Variant (Variant; Chr; Position)

Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)

Disease (CancerType; ValidationStatus; SequencingType)

ETV6_R105>RS; chr12; 11992225

 IPROTEINI-; -/GTC; SOMATICHYPO; VALID; EXOME

ETV6_R55H; chr12; 11905514

 SUB; MISSENSE; G; G/A; SOMATICHYPO; VALID; TARGETED_SEQUENCING

ETV6_S271T; chr12; 12022706

 SUB; MISSENSE; G; G/C; SOMATICT-ALL; VALID;

ETV6_N405fs; chr12; 12038920

 IFRAMESHIFT; -; -/TAGA; SOMATICT-ALL; VALID;

ETV6_Y344fs; chr12; 12037399

 DEL; FRAMESHIFT; TA; TA/-; SOMATICT-ALL; VALID;

ETV6_N405fs; chr12; 12038920

 IFRAMESHIFT; -; -/TAGA; SOMATICT-ALL; VALID;

ETV6_L205fs; chr12; 12022508

 IFRAMESHIFT; -; -/C; SOMATICT-ALL; VALID;

ETV6_R105fs; chr12; 11992224

 IFRAMESHIFT; -; -/TG; SOMATICT-ALL; VALID;

ETV6_R105G; chr12; 11992223

 SUB; MISSENSE; C; C/G; SOMATICT-ALL; VALID;

ETV6_R105G; chr12; 11992223

 SUB; MISSENSE; C; C/G; SOMATICT-ALL; VALID; EXOME

ETV6_P234fs; chr12; 12022596

 IFRAMESHIFT; -; -/C; SOMATICT-ALL; VALID;

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.404A>G; p.H135R;

livercarcinoma; hepatocellular_carcinoma

c.753C>T; p.S251S;

skin; armmalignant_melanoma

c.650G>C; p.R217T;

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinoma

c.608delC; p.L205fs*4;

NSmalignant_melanoma

c.215delG; p.A73fs*7;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blastic_plasmacytoid_dentritic_cell_neoplasm

c.641C>T; p.P214L;

large_intestine; coloncarcinoma; adenocarcinoma

c.1105C>T; p.R369W;

large_intestine; coloncarcinoma; adenocarcinoma

c.776G>A; p.R259Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.1196G>A; p.R399H;

large_intestine; coloncarcinoma; adenocarcinoma

c.215delG; p.A73fs*7;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blastic_plasmacytoid_dentritic_cell_neoplasm

c.215delG; p.A73fs*7;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blastic_plasmacytoid_dentritic_cell_neoplasm

c.314G>C; p.R105P;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.304_310delTTTCGCT; p.F102fs*18;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.831_832insCT; p.I278fs*3;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.156_162delGCACCTG; p.H53fs*12;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.954_955insT; p.M319fs*8;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.353_357delAGCAT; p.Q118fs*34;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.632_639delGCCTCTCC; p.R211fs*3;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1022_1031delTTTGGGATTA; p.L341fs*27;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1195C>A; p.R399S;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.1148A>G; p.H383R;

livercarcinoma

c.1283G>A; p.S428N;

oesophaguscarcinoma; adenocarcinoma

c.666G>T; p.R222S;

lungcarcinoma; non_small_cell_carcinoma

c.1054A>T; p.S352C;

livercarcinoma

c.1051G>C; p.D351H;

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinoma

c.1186A>G; p.R396G;

large_intestine; coloncarcinoma

c.1202A>G; p.Y401C;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.747C>T; p.S249S;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.982C>T; p.H328Y;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.815C>G; p.P272R;

lungcarcinoma; adenocarcinoma

c.683A>G; p.N228S;

lungcarcinoma; adenocarcinoma

c.141G>A; p.S47S;

lungcarcinoma; adenocarcinoma

c.210C>G; p.L70L;

lungcarcinoma; adenocarcinoma

c.669G>A; p.P223P;

lungcarcinoma; adenocarcinoma

c.115C>T; p.R39*;

ovarycarcinoma; clear_cell_carcinoma

c.83C>T; p.A28V;

pancreascarcinoma; ductal_carcinoma

c.1207A>G; p.K403E;

pancreascarcinoma; ductal_carcinoma

c.1253+2T>G; p.?;

pancreasNS

c.1286G>A; p.G429D;

livercarcinoma

c.1087A>G; p.K363E;

lungcarcinoma; small_cell_carcinoma

c.313C>G; p.R105G;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.561G>C; p.T187T;

lungcarcinoma; adenocarcinoma

c.247G>A; p.D83N;

lungcarcinoma; squamous_cell_carcinoma

c.1106G>T; p.R369L;

lungcarcinoma; adenocarcinoma

c.1056C>T; p.S352S;

lungcarcinoma; squamous_cell_carcinoma

c.542G>T; p.R181L;

lungcarcinoma; squamous_cell_carcinoma

c.1174G>A; p.E392K;

lungcarcinoma; adenocarcinoma

c.56C>A; p.P19H;

lungcarcinoma; squamous_cell_carcinoma

c.1123G>C; p.G375R; 12:11928759-11928759

 ovarycarcinoma; serous_carcinoma

c.331G>A; p.D111N;

lungcarcinoma; squamous_cell_carcinoma

c.602T>C; p.L201P;

lungcarcinoma; adenocarcinoma

c.1003A>G; p.I335V;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.58C>T; p.P20S;

breastcarcinoma

c.1133G>C; p.R378P;

breastcarcinoma

c.775C>G; p.R259G;

large_intestine; coloncarcinoma; adenocarcinoma

c.414_415delCT; p.S139fs*14;

large_intestine; coloncarcinoma; adenocarcinoma

c.1105C>T; p.R369W;

large_intestine; colonNS

c.790C>T; p.R264C;

large_intestine; coloncarcinoma; adenocarcinoma

c.93G>A; p.T31T;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1105C>T; p.R369W;

large_intestine; coloncarcinoma; adenocarcinoma

c.1252A>G; p.R418G;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.314G>C; p.R105P;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.311_323delATCGATCTCCTCA; p.Y104fs*14;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.1123G>A; p.G375R;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1157G>T; p.R386I;

large_intestine; rectumcarcinoma; adenocarcinoma

c.41G>A; p.R14Q;

endometriumcarcinoma; endometrioid_carcinoma

c.17C>T; p.A6V;

endometriumcarcinoma; endometrioid_carcinoma

c.421C>T; p.H141Y;

endometriumcarcinoma; endometrioid_carcinoma

c.135_136delAG; p.D46fs*19;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1186A>G; p.R396G;

large_intestine; caecumcarcinoma; adenocarcinoma

c.981G>A; p.E327E;

large_intestine; caecumcarcinoma; adenocarcinoma

c.432G>A; p.P144P;

endometriumcarcinoma; endometrioid_carcinoma

c.813C>T; p.S271S;

breastcarcinoma

c.195C>A; p.D65E;

endometriumcarcinoma; endometrioid_carcinoma

c.1132C>T; p.R378*;

endometriumcarcinoma; endometrioid_carcinoma

c.1039C>T; p.Q347*;

urinary_tract; bladdercarcinoma

c.272G>A; p.G91D;

large_intestine; coloncarcinoma; adenocarcinoma

c.64A>T; p.S22C;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.328G>A; p.G110S;

endometriumcarcinoma; endometrioid_carcinoma

c.163C>T; p.R55C;

endometriumcarcinoma; endometrioid_carcinoma

c.931G>A; p.D311N;

urinary_tract; bladdercarcinoma

c.979G>C; p.E327Q;

urinary_tract; bladdercarcinoma

c.1083G>A; p.E361E;

prostatecarcinoma; adenocarcinoma

c.556A>G; p.I186V;

skinmalignant_melanoma

c.1282A>G; p.S428G;

skinmalignant_melanoma

c.1234G>A; p.G412R;

skin; mucosalmalignant_melanoma

c.683A>G; p.N228S;

skin; facecarcinoma; squamous_cell_carcinoma

c.916C>T; p.L306F;

skin; facecarcinoma; squamous_cell_carcinoma

c.74C>G; p.P25R;

stomachadenocarcinoma

c.1016G>T; p.R339I;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS

c.1153-1G>T; p.?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphoma

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