| Gene ID | 7019 |
| Symbol | TFAM |
| Synonymous | MTTF1|MTTFA|TCF6|TCF6L1|TCF6L2|TCF6L3 |
| Full name | transcription factor A, mitochondrial |
| Gene description | mitochondrial transcription factor 1|mitochondrial transcription factor A|transcription factor 6|transcription factor 6-like 1|transcription factor 6-like 2 (mitochondrial transcription factor)|transcription factor 6-like 3 |
| Cytoband | 10q21 |
| Gene type | protein-coding |
| Synonymous | MIM:600438; HGNC:HGNC:11741; Ensembl:ENSG00000108064; HPRD:02702; Vega:OTTHUMG00000018270 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.221-1G>A; p.?; 10:58388189-58388189 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.517G>T; p.A173S; 10:58390840-58390840 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.703A>G; p.I235V; 10:58395036-58395036 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.221-2A>G; p.?; 10:58388188-58388188 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.517G>A; p.A173T; 10:58390840-58390840 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.666G>T; p.M222I; 10:58394999-58394999 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.314C>T; p.A105V; 10:58388692-58388692 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.621C>T; p.D207D; 10:58394954-58394954 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.645G>T; p.M215I; 10:58394978-58394978 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.441+2T>G; p.?; 10:58388821-58388821 |
urinary_tract; bladder | carcinoma | Unknown |
c.117G>A; p.P39P; 10:58386235-58386235 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
breast | carcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.432delA; p.E148fs*2; 10:58388810-58388810 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.375G>A; p.Q125Q; 10:58388753-58388753 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.104T>G; p.F35C; 10:58386222-58386222 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.698G>A; p.R233H; 10:58395031-58395031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.97T>C; p.F33L; 10:58385644-58385644 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.506G>T; p.R169I; 10:58390829-58390829 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.546G>A; p.L182L; 10:58394366-58394366 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.546G>A; p.L182L; 10:58394366-58394366 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.274C>T; p.P92S; 10:58388243-58388243 |
liver | carcinoma | Substitution - Missense |
c.337G>C; p.E113Q; 10:58388715-58388715 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.595T>C; p.L199L; 10:58394928-58394928 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.160G>T; p.V54L; 10:58386278-58386278 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.619G>A; p.D207N; 10:58394952-58394952 |
skin | malignant_melanoma | Substitution - Missense |
c.694C>T; p.R232C; 10:58395027-58395027 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.472C>A; p.P158T; 10:58390795-58390795 |
thyroid | other; neoplasm | Substitution - Missense |
c.388G>A; p.E130K; 10:58388766-58388766 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.185A>T; p.K62I; 10:58386303-58386303 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.82C>T; p.R28*; 10:58385629-58385629 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.629G>A; p.R210H; 10:58394962-58394962 |
pancreas | carcinoma | Substitution - Missense |
c.715C>T; p.R239*; 10:58395048-58395048 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Nonsense |
c.475C>T; p.R159C; 10:58390798-58390798 |
skin | malignant_melanoma | Substitution - Missense |
c.429G>A; p.M143I; 10:58388807-58388807 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.432_433delAA; p.K147fs*16; 10:58388810-58388811 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.153G>T; p.K51N; 10:58386271-58386271 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.341T>G; p.I114R; 10:58388719-58388719 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.25G>C; p.G9R; 10:58385572-58385572 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |