| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5931 |
Name | RBBP7 |
Synonymous | RbAp46;retinoblastoma binding protein 7;RBBP7;retinoblastoma binding protein 7 |
Definition | G1/S transition control protein-binding protein RbAp46|RBBP-7|histone acetyltransferase type B subunit 2|histone-binding protein RBBP7|nucleosome-remodeling factor subunit RBAP46|retinoblastoma-binding protein 7|retinoblastoma-binding protein RbAp46|retin |
Position | Xp22.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for RBBP7 | ||
PCGP somatic mutation [Top] | ||
There is no record for RBBP7 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.908G>A; p.R303H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.820G>A; p.E274K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.908G>A; p.R303H; |
pancreas | carcinoma |
c.959delT; p.F320fs*22; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.827A>G; p.N276S; 23:16780851-16780851 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma |
c.842A>G; p.N281S; |
liver | carcinoma |
c.142T>C; p.W48R; |
liver | carcinoma |
c.908G>A; p.R303H; |
pancreas | carcinoma; ductal_carcinoma |
c.592G>A; p.D198N; |
skin; leg | malignant_melanoma |
c.592G>A; p.D198N; |
skin; leg | malignant_melanoma |
c.520G>A; p.G174S; |
lung | carcinoma; adenocarcinoma |
c.652G>T; p.A218S; |
lung | carcinoma; adenocarcinoma |
c.384T>C; p.R128R; |
prostate | carcinoma |
c.1076A>G; p.E359G; |
prostate | carcinoma |
c.482-1G>C; p.?; |
prostate | carcinoma |
c.308-1G>T; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.889G>T; p.V297L; |
ovary | carcinoma; serous_carcinoma |
c.936C>T; p.F312F; 23:16780622-16780622 |
ovary | carcinoma; serous_carcinoma |
c.232C>T; p.L78L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1020C>A; p.R340R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.707T>C; p.L236P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1015C>A; p.R339S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.827A>G; p.N276S; 23:16780851-16780851 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.382C>T; p.R128C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1247C>T; p.T416M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.820G>A; p.E274K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.937G>A; p.E313K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.820G>A; p.E274K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1019G>A; p.R340H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1209+1G>T; p.?; |
breast | carcinoma |
c.43G>A; p.V15I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.937G>A; p.E313K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.715G>C; p.E239Q; |
breast | carcinoma |
c.501T>G; p.N167K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.367G>A; p.E123K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.609G>A; p.L203L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.83C>T; p.P28L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1024A>C; p.N342H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.634G>T; p.E212*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.958T>G; p.F320V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.25G>T; p.D9Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.781A>C; p.T261P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.539A>G; p.Y180C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.963+2T>C; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1098+4C>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.75_77delGAA; p.K25delK; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.934T>C; p.F312L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1159delT; p.W387fs*>39; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.809C>T; p.A270V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1132G>A; p.D378N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.621C>T; p.N207N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.941C>A; p.S314Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.367G>A; p.E123K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.934T>C; p.F312L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1019G>A; p.R340H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.936C>T; p.F312F; 23:16780622-16780622 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.98_109del12; p.L33_T36delLVMT; |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.151G>A; p.E51K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |