| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1080 |
Name | CFTR |
Synonymous | ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1;cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7);CFTR;cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Definition | ATP-binding cassette sub-family C member 7|ATP-binding cassette transporter sub-family C member 7|cAMP-dependent chloride channel|channel conductance-controlling ATPase|cystic fibrosis transmembrane conductance regulator |
Position | 7q31.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CFTR | ||
PCGP somatic mutation [Top] | ||
There is no record for CFTR | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1063C>T; p.P355S; |
skin; arm | malignant_melanoma |
c.2053C>A; p.Q685K; |
liver | carcinoma; hepatocellular_carcinoma |
c.793A>C; p.M265L; |
skin; ear | malignant_melanoma |
c.1997T>G; p.L666*; |
skin; ear | malignant_melanoma |
c.3058G>A; p.V1020M; |
liver | carcinoma; hepatocellular_carcinoma |
c.3743C>T; p.S1248L; |
skin; upper_arm | malignant_melanoma |
c.3554G>A; p.G1185D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.992T>C; p.I331T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3289C>T; p.R1097C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2092A>G; p.K698E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.497A>T; p.K166M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1665A>C; p.R555S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3455A>C; p.D1152A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2619+1G>A; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.3211C>T; p.Q1071*; |
pancreas | carcinoma |
c.2094G>T; p.K698N; |
pancreas | carcinoma; acinar_carcinoma |
c.2991_2993delGTT; p.L999del; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2703C>T; p.N901N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1040G>A; p.R347H; |
prostate | carcinoma; adenocarcinoma |
c.1521_1523delCTT; p.F508delF; |
lung | carcinoma; adenocarcinoma |
c.227_228insT; p.W79fs*32; |
oesophagus | carcinoma; adenocarcinoma |
c.2454delG; p.E819fs*2; |
oesophagus | carcinoma; adenocarcinoma |
c.376G>C; p.G126R; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2494T>G; p.C832G; |
oesophagus | carcinoma; adenocarcinoma |
c.2073A>T; p.G691G; |
oesophagus | carcinoma; adenocarcinoma |
c.1979C>G; p.S660*; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.4309T>C; p.F1437L; |
liver | carcinoma |
c.364T>C; p.Y122H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1117-1G>T; p.?; |
liver | carcinoma |
c.1392+5_1392+6insC; p.?; |
liver | carcinoma |
c.1001G>A; p.R334Q; |
liver | carcinoma |
c.3211C>T; p.Q1071*; |
pancreas | carcinoma; ductal_carcinoma |
c.2966T>G; p.L989R; |
skin; trunk | malignant_melanoma; nodular |
c.3922G>A; p.E1308K; |
skin; trunk | malignant_melanoma; nodular |
c.2597G>A; p.C866Y; |
lung | carcinoma; adenocarcinoma |
c.2986C>T; p.Q996*; |
lung | carcinoma; adenocarcinoma |
c.3916C>T; p.P1306S; |
lung | carcinoma; adenocarcinoma |
c.963T>G; p.S321S; |
lung | carcinoma; adenocarcinoma |
c.3205G>A; p.G1069R; |
lung | carcinoma; adenocarcinoma |
c.1228G>C; p.E410Q; |
lung | carcinoma; adenocarcinoma |
c.1826A>T; p.H609L; |
lung | carcinoma; adenocarcinoma |
c.2041G>C; p.E681Q; |
lung | carcinoma; adenocarcinoma |
c.3937C>G; p.Q1313E; |
lung | carcinoma; adenocarcinoma |
c.76A>T; p.K26*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.3794G>A; p.G1265E; |
skin; trunk | malignant_melanoma |
c.52A>G; p.S18G; |
prostate | carcinoma |
c.1162A>G; p.T388A; |
pancreas | carcinoma; ductal_carcinoma |
c.1240C>A; p.Q414K; |
breast | carcinoma |
c.2746T>A; p.F916I; |
NS | NS |
c.3092C>T; p.A1031V; |
central_nervous_system; temporoparietal | glioma; astrocytoma_Grade_IV |
c.288A>T; p.A96A; |
prostate | carcinoma |
c.2523A>T; p.P841P; |
lung | carcinoma; small_cell_carcinoma |
c.1225T>C; p.F409L; |
lung | carcinoma; small_cell_carcinoma |
c.3097T>G; p.F1033V; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1356_1358delGTT; p.L454delL; |
central_nervous_system; fourth_ventricle | glioma; ependymoma |
c.1356_1358delGTT; p.L454delL; |
central_nervous_system; parietal_lobe | glioma; ependymoma |
c.1356_1358delGTT; p.L454delL; |
central_nervous_system; fourth_ventricle | glioma; ependymoma |
c.1521_1523delCTT; p.F508delF; |
central_nervous_system; brain | glioma |
c.3808G>T; p.D1270Y; |
prostate | adenoma |
c.1265C>T; p.S422F; |
autonomic_ganglia | neuroblastoma |
c.351C>T; p.R117R; 7:116958266-116958266 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3603T>A; p.D1201E; |
lung | carcinoma; adenocarcinoma |
c.2679G>T; p.G893G; |
lung | carcinoma; adenocarcinoma |
c.323C>A; p.S108Y; 7:116958238-116958238 |
ovary | carcinoma; serous_carcinoma |
c.308G>A; p.G103E; |
lung | carcinoma; squamous_cell_carcinoma |
c.1094T>C; p.L365P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1950C>T; p.F650F; |
lung | carcinoma; squamous_cell_carcinoma |
c.165-1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.3380G>C; p.G1127A; |
lung | carcinoma; squamous_cell_carcinoma |
c.4367G>T; p.S1456I; |
lung | carcinoma; squamous_cell_carcinoma |
c.357C>G; p.I119M; |
lung | carcinoma; squamous_cell_carcinoma |
c.2262G>A; p.V754V; |
lung | carcinoma; adenocarcinoma |
c.171G>T; p.W57C; |
lung | carcinoma; adenocarcinoma |
c.2538G>A; p.W846*; |
lung | carcinoma; adenocarcinoma |
c.2491G>C; p.E831Q; |
lung | carcinoma; adenocarcinoma |
c.3764C>G; p.S1255*; |
lung | carcinoma; adenocarcinoma |
c.289G>T; p.V97L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.729G>A; p.M243I; |
lung | carcinoma; squamous_cell_carcinoma |
c.4383G>T; p.K1461N; |
lung | carcinoma; squamous_cell_carcinoma |
c.1158C>G; p.N386K; |
ovary | carcinoma; serous_carcinoma |
c.210T>A; p.I70I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3469A>T; p.M1157L; |
lung | carcinoma; adenocarcinoma |
c.346G>A; p.E116K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3267G>C; p.W1089C; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.3647C>A; p.T1216K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.419C>T; p.P140L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4146_4154delAATAATTAG; p.I1383_R1385delIIR; |
breast | carcinoma |
c.4434A>G; p.T1478T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2647C>T; p.L883F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3807C>T; p.I1269I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2290C>T; p.R764*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4347C>A; p.L1449L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2835G>A; p.S945S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1951G>A; p.D651N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1693G>T; p.D565Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2551C>T; p.R851*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4324A>C; p.S1442R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1460G>T; p.R487I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3605A>G; p.D1202G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1085A>C; p.Y362S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4300A>G; p.R1434G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1241A>C; p.Q414P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.3609C>T; p.I1203I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2172C>T; p.I724I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3091G>A; p.A1031T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1661C>A; p.A554E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3807C>T; p.I1269I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1256G>T; p.R419I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3472C>T; p.R1158*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3338C>T; p.A1113V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3758T>C; p.L1253S; |
breast | carcinoma |
c.2365G>T; p.A789S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1621C>A; p.L541I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2323C>T; p.H775Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4026G>T; p.G1342G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.409C>T; p.L137F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1557C>T; p.S519S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2240C>T; p.A747V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1345G>C; p.E449Q; |
breast | carcinoma |
c.1039C>T; p.R347C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1753G>T; p.E585*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2365G>T; p.A789S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1738G>A; p.V580I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1605G>T; p.E535D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2928C>A; p.F976L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3310G>T; p.E1104*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3715A>T; p.R1239W; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.335A>C; p.D112A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3467T>G; p.L1156W; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.874G>T; p.E292*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1670C>A; p.S557Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2908+2T>G; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2172C>T; p.I724I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1390A>T; p.K464*; |
breast | carcinoma |
c.1500C>A; p.G500G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4273G>T; p.D1425Y; |
breast | carcinoma |
c.890G>A; p.R297Q; |
breast | carcinoma |
c.111A>G; p.I37M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2148G>T; p.K716N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3587C>A; p.S1196*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3469A>T; p.M1157L; |
breast | carcinoma |
c.1979C>A; p.S660*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1099G>A; p.A367T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3159T>G; p.T1053T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1558G>A; p.V520I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3894A>G; p.G1298G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2284C>T; p.Q762*; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1601C>T; p.A534V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1254T>C; p.N418N; |
prostate | carcinoma; adenocarcinoma |
c.1658G>C; p.R553P; |
breast | carcinoma |
c.3333C>G; p.F1111L; |
breast | carcinoma |
c.2764G>A; p.V922I; |
prostate | carcinoma; adenocarcinoma |
c.3447C>A; p.S1149S; |
urinary_tract; bladder | carcinoma |
c.322T>C; p.S108P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.350G>C; p.R117P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2464G>A; p.E822K; |
urinary_tract; bladder | carcinoma |
c.722G>A; p.G241E; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.3883A>T; p.I1295F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.989G>A; p.G330E; |
skin | malignant_melanoma |
c.3315G>A; p.M1105I; |
skin | malignant_melanoma |
c.989G>A; p.G330E; |
skin | malignant_melanoma |
c.151G>A; p.E51K; |
skin | malignant_melanoma |
c.2677G>A; p.G893R; |
skin | malignant_melanoma |
c.4254G>T; p.E1418D; |
skin | malignant_melanoma |
c.2762G>A; p.G921E; |
skin | malignant_melanoma |
c.1585G>A; p.D529N; |
skin | malignant_melanoma |
c.4351C>T; p.P1451S; |
skin | malignant_melanoma |
c.613C>T; p.P205S; |
skin; hand | carcinoma; squamous_cell_carcinoma |
c.1822G>A; p.E608K; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.3499A>G; p.I1167V; |
stomach | adenocarcinoma |
c.3087_3088delGA; p.R1030fs*16; |
stomach | adenocarcinoma |