| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4194 |
Name | MDM4 |
Synonymous | HDMX|MDMX|MRP1;Mdm4 p53 binding protein homolog (mouse);MDM4;Mdm4 p53 binding protein homolog (mouse) |
Definition | MDM4-related protein 1|Mdm4, transformed 3T3 cell double minute 4, p53 binding protein|double minute 4, human homolog of; p53-binding protein|mdm2-like p53-binding protein|protein Mdm4|protein Mdmx |
Position | 1q32 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MDM4 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
MDM4_E11_UTR_3; chr1; 204521213 |
SUB; UTR_3; G; G/A; SOMATIC | MB; PUTATIVE-HQ; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.552T>C; p.S184S; |
central_nervous_system; brain | atypical_teratoid-rhabdoid_tumour |
c.287+1G>T; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.1100C>T; p.S367L; 1:202785060-202785060 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma |
c.353A>T; p.Q118L; |
NS | NS |
c.353A>T; p.Q118L; |
NS | NS |
c.353A>T; p.Q118L; |
NS | NS |
c.353A>T; p.Q118L; |
NS | NS |
c.353A>T; p.Q118L; |
NS | NS |
c.353A>T; p.Q118L; |
NS | NS |
c.1262G>A; p.R421K; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1141G>C; p.E381Q; |
oesophagus | carcinoma; adenocarcinoma |
c.1265C>T; p.T422I; |
lung | carcinoma; small_cell_carcinoma |
c.227G>A; p.C76Y; |
large_intestine; colon | carcinoma |
c.1223C>T; p.S408L; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.512-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.775G>A; p.D259N; |
lung | carcinoma; adenocarcinoma |
c.670C>G; p.Q224E; |
lung | carcinoma; adenocarcinoma |
c.421G>C; p.E141Q; |
lung | carcinoma; adenocarcinoma |
c.677T>C; p.V226A; |
prostate | carcinoma |
c.45T>G; p.S15R; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.45T>G; p.S15R; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.479C>G; p.T160S; 1:202774027-202774027 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.479C>G; p.T160S; 1:202774027-202774027 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.855G>A; p.E285E; 1:202782580-202782580 |
ovary | carcinoma; serous_carcinoma |
c.480C>A; p.T160T; |
lung | carcinoma; squamous_cell_carcinoma |
c.723G>C; p.L241F; |
ovary | carcinoma; serous_carcinoma |
c.611G>T; p.G204V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.607T>A; p.L203I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.138G>T; p.M46I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.851T>C; p.L284P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1111G>A; p.V371I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1100C>T; p.S367L; 1:202785060-202785060 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.780T>G; p.T260T; |
breast | carcinoma |
c.367G>A; p.A123T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.537C>T; p.A179A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.220G>A; p.V74I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1029G>A; p.T343T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1178A>G; p.E393G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.459C>T; p.D153D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1431C>T; p.C477C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1365C>T; p.G455G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.460G>A; p.D154N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1100C>T; p.S367L; 1:202785060-202785060 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.853G>T; p.E285*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.480C>A; p.T160T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.143_144delCT; p.T48fs*2; |
breast | carcinoma |
c.594G>A; p.L198L; |
urinary_tract; bladder | carcinoma |
c.421G>A; p.E141K; |
breast | carcinoma |
c.294C>G; p.L98L; |
urinary_tract; bladder | carcinoma |
c.394A>T; p.S132C; |
breast | carcinoma |
c.672+7T>C; p.?; |
prostate | carcinoma |
c.547A>G; p.T183A; |
skin; neck | malignant_melanoma |
c.440G>A; p.R147K; |
skin; face | carcinoma; squamous_cell_carcinoma |