| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 79577 |
Name | CDC73 |
Synonymous | C1orf28|HPTJT|HRPT2|HYX;cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae);CDC73;cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) |
Definition | cell division cycle protein 73 homolog|hyperparathyroidism 2 protein|parafibromin |
Position | 1q25 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CDC73 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
CDC73_E17_UTR_3; chr1; 193219881 |
SUB; UTR_3; G; G/A; SOMATIC | RHB; VALID; WGS |
CDC73_E17_UTR_3; chr1; 193219881 |
SUB; UTR_3; G; G/A; SOMATIC | RHB; VALID; WGS |
CDC73_E17_UTR_3; chr1; 193219881 |
SUB; UTR_3; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
CDC73_E17_UTR_3; chr1; 193219881 |
SUB; UTR_3; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; WGS |
CDC73_E17_UTR_3; chr1; 193219881 |
SUB; UTR_3; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
CDC73_E17_UTR_3; chr1; 193219881 |
SUB; UTR_3; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.128G>A; p.W43*; 1:191358081-191358081 |
parathyroid | adenoma |
c.439C>T; p.R147C; |
breast | carcinoma; HER-positive_carcinoma |
c.165delC; p.Y55fs*1; 1:191360898-191360898 |
parathyroid | carcinoma |
c.128G>A; p.W43*; 1:191358081-191358081 |
parathyroid | carcinoma |
c.128G>A; p.W43*; 1:191358081-191358081 |
parathyroid | carcinoma |
c.693_694insG; p.R232fs*35; 1:191377783-191377784 |
parathyroid | carcinoma |
c.162C>G; p.Y54*; 1:191360895-191360895 |
parathyroid | adenoma |
c.4G>T; p.A2S; 1:191357957-191357957 |
parathyroid | adenoma |
c.194_195insT; p.N66fs*1; 1:191360927-191360928 |
parathyroid | carcinoma |
c.25C>T; p.R9*; 1:191357978-191357978 |
parathyroid | carcinoma |
c.194_195insA; p.N65fs*2; 1:191360927-191360928 |
parathyroid | carcinoma |
c.25C>T; p.R9*; 1:191357978-191357978 |
parathyroid | carcinoma |
c.131+1G>A; p.?; 1:191358085-191358085 |
parathyroid | adenoma |
c.13_30del18; p.L5_Q10del; 1:191357966-191357983 |
parathyroid | carcinoma |
c.85delG; p.E29fs*8; 1:191358038-191358038 |
parathyroid | carcinoma |
c.61_64delAAGG; p.K21fs*4; 1:191358014-191358017 |
parathyroid | carcinoma |
c.82_85delGGGG; p.G28fs*8; 1:191358035-191358038 |
parathyroid | carcinoma |
c.732delT; p.S246fs*11; 1:191383622-191383622 |
parathyroid | carcinoma |
c.70G>T; p.E24*; 1:191358023-191358023 |
parathyroid | carcinoma |
c.746delT; p.F250fs*7; 1:191383636-191383636 |
parathyroid | carcinoma |
c.226C>T; p.R76*; 1:191360959-191360959 |
parathyroid | carcinoma |
c.39delC; p.Q14fs*7; 1:191357992-191357992 |
parathyroid | carcinoma |
c.23_26TGCG>GTG; p.L8fs*13; 1:191357976-191357979 |
parathyroid | carcinoma |
c.23_26TGCG>GTG; p.L8fs*13; 1:191357976-191357979 |
parathyroid | carcinoma |
c.162C>G; p.Y54*; 1:191360895-191360895 |
parathyroid | carcinoma |
c.16delA; p.S6fs*15; 1:191357969-191357969 |
parathyroid | carcinoma |
c.1230delC; p.Q411fs*17; 1:191468821-191468821 |
parathyroid | carcinoma |
c.60_69del10; p.G22fs*1; 1:191358013-191358022 |
parathyroid | carcinoma |
c.700C>T; p.R234*; 1:191377790-191377790 |
parathyroid | carcinoma |
c.284T>C; p.L95P; 1:191365973-191365973 |
parathyroid | adenoma |
c.70_73delGAAG; p.E24fs*1; 1:191358023-191358026 |
parathyroid | adenoma |
c.95_102delGGCCCAAG; p.W32fs*1; 1:191358048-191358055 |
parathyroid | adenoma |
c.165delC; p.Y55fs*1; 1:191360898-191360898 |
parathyroid | carcinoma |
c.34_37delAACA; p.N12fs*8; 1:191357987-191357990 |
parathyroid | carcinoma |
c.162C>A; p.Y54*; 1:191360895-191360895 |
parathyroid | carcinoma |
c.162C>A; p.Y54*; 1:191360895-191360895 |
parathyroid | carcinoma |
c.14T>C; p.L5P; 1:191357967-191357967 |
parathyroid | carcinoma |
c.14T>C; p.L5P; 1:191357967-191357967 |
parathyroid | carcinoma |
c.142G>T; p.E48*; 1:191360875-191360875 |
parathyroid | adenoma-hyperplasia_NS |
c.85delG; p.E29fs*8; 1:191358038-191358038 |
parathyroid | carcinoma |
c.32_32delA; p.Y11fs*10; 1:191357985-191357985 |
parathyroid | adenoma |
c.686_689delGAGT; p.R229fs*27; 1:191377776-191377779 |
parathyroid | carcinoma |
c.214C>T; p.P72S; 1:191360947-191360947 |
parathyroid | adenoma |
c.72_90del19; p.E24fs*7; 1:191358025-191358043 |
parathyroid | adenoma |
c.33_34insCT; p.N12fs*10; 1:191357986-191357987 |
parathyroid | carcinoma |
c.162C>G; p.Y54*; 1:191360895-191360895 |
parathyroid | carcinoma |
c.76delA; p.I26fs*11; 1:191358029-191358029 |
parathyroid | carcinoma |
c.70_70delG; p.E24fs*2; 1:191358023-191358023 |
bone; mandible | cemento-ossifying_fibroma |
c.1245_1262del18; p.G416_V421del; 1:191468836-191468853 |
bone; mandible | cemento-ossifying_fibroma |
c.195_196insT; p.N66fs*1; 1:191360928-191360929 |
parathyroid | carcinoma |
c.25C>T; p.R9*; 1:191357978-191357978 |
parathyroid | carcinoma |
c.197_198insA; p.N66fs*16; 1:191360930-191360931 |
parathyroid | carcinoma |
c.25C>T; p.R9*; 1:191357978-191357978 |
parathyroid | carcinoma |
c.70G>T; p.E24*; 1:191358023-191358023 |
parathyroid | carcinoma |
c.182T>A; p.L61*; 1:191360915-191360915 |
parathyroid | carcinoma |
c.64G>T; p.G22*; 1:191358017-191358017 |
parathyroid | carcinoma |
c.60_60delG; p.K21fs*5; 1:191358013-191358013 |
parathyroid | carcinoma |
c.248_248delT; p.P84fs*25; 1:191365937-191365937 |
parathyroid | carcinoma |
c.230G>C; p.R77P; 1:191360963-191360963 |
parathyroid | adenoma |
c.165C>A; p.Y55*; 1:191360898-191360898 |
parathyroid | carcinoma |
c.513-1delG; p.?; 1:191377602-191377602 |
parathyroid | carcinoma |
c.162C>G; p.Y54*; 1:191360895-191360895 |
parathyroid | carcinoma |
c.53delT; p.I18fs*3; 1:191358006-191358006 |
parathyroid | adenoma |
c.788G>A; p.R263H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1538G>A; p.R513Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.160T>C; p.Y54H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.305C>T; p.A102V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.433T>C; p.C145R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.904G>T; p.E302*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.316G>T; p.A106S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.126_131delTTGGGG; p.?; 1:191358079-191358102 |
parathyroid | adenoma |
c.773C>T; p.A258V; |
oesophagus | carcinoma; adenocarcinoma |
c.277G>T; p.D93Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.690A>G; p.V230V; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.512G>T; p.R171M; |
lung | carcinoma; adenocarcinoma |
c.1286A>T; p.D429V; |
lung | carcinoma; adenocarcinoma |
c.366_367TC>CT; p.T122>?; |
lung | carcinoma; adenocarcinoma |
c.132-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.829-2A>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.619G>T; p.A207S; |
lung | carcinoma; adenocarcinoma |
c.245A>G; p.N82S; |
lung | carcinoma; adenocarcinoma |
c.26G>T; p.R9L; |
lung | carcinoma; adenocarcinoma |
c.1587G>T; p.L529F; |
lung | carcinoma; adenocarcinoma |
c.717A>T; p.Q239H; |
lung | carcinoma; adenocarcinoma |
c.1155-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.1031-1G>A; p.?; |
skin; trunk | malignant_melanoma |
c.1412C>T; p.A471V; |
breast | carcinoma |
c.73G>C; p.V25L; |
bone | chondrosarcoma |
c.883C>G; p.Q295E; |
pancreas | NS |
c.1106C>A; p.T369N; 1:191448182-191448182 |
ovary | carcinoma; serous_carcinoma |
c.266C>G; p.P89R; |
lung | carcinoma; adenocarcinoma |
c.1324G>T; p.V442F; |
lung | carcinoma; adenocarcinoma |
c.729G>T; p.K243N; |
lung | carcinoma; squamous_cell_carcinoma |
c.990G>T; p.R330R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1521T>C; p.D507D; |
lung | carcinoma; squamous_cell_carcinoma |
c.265C>G; p.P89A; |
ovary | carcinoma; serous_carcinoma |
c.259A>T; p.R87*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1451G>T; p.R484L; |
lung | carcinoma; squamous_cell_carcinoma |
c.709A>G; p.I237V; |
lung | carcinoma; adenocarcinoma |
c.1491A>T; p.L497F; |
lung | carcinoma; adenocarcinoma |
c.1480G>T; p.V494L; |
lung | carcinoma; adenocarcinoma |
c.911C>A; p.T304K; |
lung | carcinoma; squamous_cell_carcinoma |
c.907G>C; p.E303Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.266C>T; p.P89L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1556A>G; p.D519G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.563A>C; p.K188T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.144A>G; p.E48E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1106C>A; p.T369N; 1:191448182-191448182 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.164A>T; p.Y55F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.229C>T; p.R77C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.439C>T; p.R147C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.467G>A; p.R156H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.226C>T; p.R76*; 1:191360959-191360959 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.272G>A; p.R91Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1214T>C; p.I405T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.351T>C; p.G117G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.144A>G; p.E48E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.144A>G; p.E48E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.416G>A; p.R139Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.512G>A; p.R171K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.334G>A; p.A112T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.991A>G; p.K331E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.228A>G; p.R76R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1366G>T; p.G456C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.285T>C; p.L95L; |
large_intestine | carcinoma; adenocarcinoma |
c.1192C>T; p.Q398*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.437T>C; p.V146A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.730-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1333G>A; p.V445I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1581G>A; p.S527S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.164A>G; p.Y55C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1073G>A; p.R358Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.889A>G; p.R297G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.416G>A; p.R139Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1333G>A; p.V445I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1492G>T; p.E498*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.700C>T; p.R234*; 1:191377790-191377790 |
endometrium | carcinoma; endometrioid_carcinoma |
c.931A>G; p.T311A; |
urinary_tract; bladder | carcinoma |
c.102G>T; p.K34N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.219T>C; p.V73V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.879C>A; p.Y293*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.27A>G; p.R9R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.227G>A; p.R76Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.144A>G; p.E48E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.841C>T; p.R281C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.614T>C; p.I205T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.581G>T; p.R194I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1174A>C; p.K392Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.678_679insAG; p.V230fs*28; |
endometrium | carcinoma; endometrioid_carcinoma |
c.143A>G; p.E48G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.144A>G; p.E48E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.745_746insT; p.A251fs*16; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.160T>C; p.Y54H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.340T>G; p.L114V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.921C>G; p.F307L; |
cervix | carcinoma; squamous_cell_carcinoma |
c.228A>G; p.R76R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.164A>G; p.Y55C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.165C>T; p.Y55Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.160T>C; p.Y54H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.702A>G; p.R234R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.358C>T; p.R120*; |
skin | malignant_melanoma |
c.628C>T; p.Q210*; |
skin; mucosal | malignant_melanoma |
c.1559G>A; p.R520K; |
stomach | adenocarcinoma |