| Gene ID | 9682 |
| Symbol | KDM4A |
| Synonymous | JHDM3A|JMJD2|JMJD2A|TDRD14A |
| Full name | lysine (K)-specific demethylase 4A |
| Gene description | jmjC domain-containing histone demethylation protein 3A|jumonji C domain-containing histone demethylase 3A|jumonji domain containing 2|jumonji domain containing 2A|jumonji domain-containing protein 2A|lysine-specific demethylase 4A|tudor domain containing |
| Cytoband | 1p34.1 |
| Gene type | protein-coding |
| Synonymous | MIM:609764; HGNC:HGNC:22978; Ensembl:ENSG00000066135; HPRD:17168; Vega:OTTHUMG00000007560 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.662G>T; p.R221L; 1:43665734-43665734 |
liver | carcinoma | Substitution - Missense |
c.673+7T>C; p.?; 1:43665752-43665752 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.328C>T; p.R110C; 1:43660311-43660311 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.55C>T; p.P19S; 1:43653230-43653230 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1213A>C; p.I405L; 1:43669149-43669149 |
liver | carcinoma | Substitution - Missense |
c.1475C>T; p.P492L; 1:43671616-43671616 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.356G>A; p.R119Q; 1:43660339-43660339 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.156G>A; p.E52E; 1:43655608-43655608 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2513A>G; p.K838R; 1:43694737-43694737 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1672G>C; p.E558Q; 1:43671813-43671813 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.699C>A; p.S233R; 1:43666477-43666477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1529C>G; p.S510C; 1:43671670-43671670 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2516G>T; p.R839I; 1:43694740-43694740 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1284G>A; p.T428T; 1:43669220-43669220 |
breast | carcinoma | Substitution - coding silent |
c.1630G>A; p.V544M; 1:43671771-43671771 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1036_1037CC>TT; p.P346F; 1:43667892-43667893 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.962T>C; p.V321A; 1:43667818-43667818 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2843G>C; p.S948T; 1:43703618-43703618 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.795A>G; p.G265G; 1:43666971-43666971 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1276G>C; p.E426Q; 1:43669212-43669212 |
breast | carcinoma | Substitution - Missense |
c.2182G>C; p.E728Q; 1:43690989-43690989 |
breast | carcinoma | Substitution - Missense |
c.322A>G; p.T108A; 1:43660305-43660305 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.247A>G; p.T83A; 1:43655699-43655699 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.247A>G; p.T83A; 1:43655699-43655699 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1505_1506insTTGTCT; p.S502_G503insCL; 1:43671646-43671647 |
large_intestine | carcinoma; adenocarcinoma | Insertion - In frame |
c.1199G>A; p.R400Q; 1:43669135-43669135 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1283C>T; p.T428M; 1:43669219-43669219 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2312T>C; p.L771P; 1:43691565-43691565 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>A; p.V313M; 1:43667793-43667793 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.352G>A; p.E118K; 1:43660335-43660335 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1468G>A; p.V490M; 1:43671609-43671609 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.551C>T; p.S184F; 1:43663015-43663015 |
skin | malignant_melanoma | Substitution - Missense |
c.1445C>A; p.A482E; 1:43671586-43671586 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1445C>A; p.A482E; 1:43671586-43671586 |
thyroid | other; neoplasm | Substitution - Missense |
c.1903G>T; p.A635S; 1:43688961-43688961 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.8C>T; p.S3F; 1:43653183-43653183 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1873A>G; p.T625A; 1:43688931-43688931 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1873A>G; p.T625A; 1:43688931-43688931 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1699G>A; p.A567T; 1:43671840-43671840 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.283C>T; p.R95*; 1:43655735-43655735 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.385C>T; p.P129S; 1:43660368-43660368 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2242+9T>A; p.?; 1:43691058-43691058 |
pancreas | carcinoma | Unknown |
c.1493G>A; p.R498H; 1:43671634-43671634 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3091A>G; p.T1031A; 1:43704266-43704266 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2294G>A; p.R765Q; 1:43691547-43691547 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.352G>T; p.E118*; 1:43660335-43660335 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1940G>A; p.R647Q; 1:43688998-43688998 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1945C>T; p.P649S; 1:43689003-43689003 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2362G>T; p.A788S; 1:43692298-43692298 |
liver | carcinoma | Substitution - Missense |
c.2362G>T; p.A788S; 1:43692298-43692298 |
liver | carcinoma | Substitution - Missense |
c.1386C>G; p.V462V; 1:43671527-43671527 |
breast | carcinoma | Substitution - coding silent |
c.3025G>A; p.E1009K; 1:43704083-43704083 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1753T>G; p.F585V; 1:43683702-43683702 |
skin | malignant_melanoma | Substitution - Missense |
c.1318A>C; p.T440P; 1:43669254-43669254 |
breast | carcinoma | Substitution - Missense |
c.676delT; p.F227fs*16; 1:43666454-43666454 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1043C>T; p.P348L; 1:43667899-43667899 |
breast | carcinoma | Substitution - Missense |
c.3087T>G; p.I1029M; 1:43704262-43704262 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.3090C>T; p.F1030F; 1:43704265-43704265 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3087T>A; p.I1029I; 1:43704262-43704262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4G>A; p.A2T; 1:43653179-43653179 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2177A>T; p.Y726F; 1:43690984-43690984 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1951T>A; p.F651I; 1:43689009-43689009 |
kidney | other; neoplasm | Substitution - Missense |
c.2198G>A; p.S733N; 1:43691005-43691005 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1495C>T; p.L499F; 1:43671636-43671636 |
breast | carcinoma | Substitution - Missense |
c.2231G>A; p.R744Q; 1:43691038-43691038 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2614G>A; p.D872N; 1:43694838-43694838 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2592C>T; p.A864A; 1:43694816-43694816 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1500C>G; p.V500V; 1:43671641-43671641 |
skin | malignant_melanoma | Substitution - coding silent |
c.503T>C; p.I168T; 1:43662967-43662967 |
lung | carcinoid-endocrine_tumour; typical | Substitution - Missense |
c.1885G>C; p.E629Q; 1:43688943-43688943 |
bone | osteosarcoma | Substitution - Missense |
c.2363C>T; p.A788V; 1:43692299-43692299 |
liver | carcinoma | Substitution - Missense |
c.1626C>T; p.L542L; 1:43671767-43671767 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2363C>T; p.A788V; 1:43692299-43692299 |
liver | carcinoma | Substitution - Missense |
c.2738G>A; p.R913H; 1:43697910-43697910 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.866C>T; p.T289I; 1:43667042-43667042 |
breast | carcinoma | Substitution - Missense |
c.806T>C; p.I269T; 1:43666982-43666982 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1779C>T; p.S593S; 1:43683728-43683728 |
skin | malignant_melanoma | Substitution - coding silent |
c.1684A>T; p.R562W; 1:43671825-43671825 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2778C>A; p.T926T; 1:43697950-43697950 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2821C>T; p.L941F; 1:43697993-43697993 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3182C>T; p.A1061V; 1:43704357-43704357 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.520C>A; p.P174T; 1:43662984-43662984 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3038G>T; p.R1013I; 1:43704096-43704096 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1096_1098delGAG; p.E368delE; 1:43667952-43667954 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - In frame |
c.2842-3C>T; p.?; 1:43703614-43703614 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.157T>G; p.W53G; 1:43655609-43655609 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1148G>T; p.G383V; 1:43668004-43668004 |
skin | malignant_melanoma | Substitution - Missense |
c.1258C>A; p.L420M; 1:43669194-43669194 |
liver | carcinoma | Substitution - Missense |
c.1148G>T; p.G383V; 1:43668004-43668004 |
skin | malignant_melanoma | Substitution - Missense |
c.2474G>A; p.R825H; 1:43694092-43694092 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1258C>A; p.L420M; 1:43669194-43669194 |
liver | carcinoma | Substitution - Missense |
c.83G>A; p.S28N; 1:43653258-43653258 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2583C>T; p.A861A; 1:43694807-43694807 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1935G>C; p.Q645H; 1:43688993-43688993 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.138+6G>T; p.?; 1:43653319-43653319 |
ovary | other; neoplasm | Unknown |
c.3030T>C; p.L1010L; 1:43704088-43704088 |
liver | carcinoma | Substitution - coding silent |
c.606T>C; p.F202F; 1:43663070-43663070 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3030T>C; p.L1010L; 1:43704088-43704088 |
liver | carcinoma | Substitution - coding silent |
c.2613C>A; p.D871E; 1:43694837-43694837 |
prostate | carcinoma | Substitution - Missense |
c.2426A>G; p.N809S; 1:43694044-43694044 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.666C>T; p.L222L; 1:43665738-43665738 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.107C>T; p.S36F; 1:43653282-43653282 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3041T>C; p.V1014A; 1:43704099-43704099 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.1462C>T; p.L488F; 1:43671603-43671603 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.890T>C; p.I297T; 1:43667066-43667066 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.499A>G; p.T167A; 1:43662963-43662963 |
skin | malignant_melanoma | Substitution - Missense |
c.2914G>T; p.V972F; 1:43703689-43703689 |
pancreas | carcinoma | Substitution - Missense |
c.2570A>T; p.H857L; 1:43694794-43694794 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1702G>A; p.A568T; 1:43671843-43671843 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1280T>C; p.M427T; 1:43669216-43669216 |
skin | malignant_melanoma | Substitution - Missense |
c.955G>A; p.V319M; 1:43667811-43667811 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1444G>C; p.A482P; 1:43671585-43671585 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1602A>T; p.R534R; 1:43671743-43671743 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.2138C>T; p.S713L; 1:43690945-43690945 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2138C>T; p.S713L; 1:43690945-43690945 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1944T>A; p.P648P; 1:43689002-43689002 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.2484+2T>C; p.?; 1:43694104-43694104 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.144T>C; p.V48V; 1:43655596-43655596 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2035C>T; p.Q679*; 1:43689093-43689093 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2728A>G; p.K910E; 1:43697900-43697900 |
liver | carcinoma | Substitution - Missense |
c.2728A>G; p.K910E; 1:43697900-43697900 |
liver | carcinoma | Substitution - Missense |
c.429G>A; p.K143K; 1:43660412-43660412 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2733C>T; p.N911N; 1:43697905-43697905 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.337G>A; p.E113K; 1:43660320-43660320 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.412G>A; p.G138S; 1:43660395-43660395 |
prostate | adenoma | Substitution - Missense |
c.1276G>A; p.E426K; 1:43669212-43669212 |
breast | carcinoma | Substitution - Missense |
c.2320-7T>C; p.?; 1:43692249-43692249 |
pancreas | carcinoma | Unknown |
c.3100G>A; p.E1034K; 1:43704275-43704275 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1508G>T; p.G503V; 1:43671649-43671649 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.259A>G; p.I87V; 1:43655711-43655711 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.653G>A; p.R218Q; 1:43665725-43665725 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2496C>A; p.F832L; 1:43694720-43694720 |
pancreas | carcinoma | Substitution - Missense |
c.1790G>A; p.R597H; 1:43683739-43683739 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.381C>T; p.F127F; 1:43660364-43660364 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1429G>A; p.E477K; 1:43671570-43671570 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2308delG; p.A770fs*2; 1:43691561-43691561 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1214T>C; p.I405T; 1:43669150-43669150 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2593G>A; p.G865S; 1:43694817-43694817 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3073C>T; p.R1025C; 1:43704248-43704248 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2419T>G; p.F807V; 1:43694037-43694037 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3073C>T; p.R1025C; 1:43704248-43704248 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.680T>C; p.F227S; 1:43666458-43666458 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.383A>G; p.N128S; 1:43660366-43660366 |
breast | carcinoma | Substitution - Missense |
c.454C>T; p.R152W; 1:43662918-43662918 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.454C>T; p.R152W; 1:43662918-43662918 |
skin; upper_back | malignant_melanoma | Substitution - Missense |
c.1651G>C; p.D551H; 1:43671792-43671792 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1303G>A; p.A435T; 1:43669239-43669239 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1755T>A; p.F585L; 1:43683704-43683704 |
skin | malignant_melanoma | Substitution - Missense |
c.2559A>T; p.P853P; 1:43694783-43694783 |
ovary | other; neoplasm | Substitution - coding silent |
c.1984G>T; p.A662S; 1:43689042-43689042 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3094G>A; p.E1032K; 1:43704269-43704269 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.716G>A; p.R239H; 1:43666494-43666494 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1396G>C; p.E466Q; 1:43671537-43671537 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3035A>G; p.K1012R; 1:43704093-43704093 |
breast | carcinoma | Substitution - Missense |