RB1 Back

retinoblastoma 1 (including osteosarcoma)

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NCBI Description of RB1

The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma.

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Sort mutations by: Tumor type  Mutation type  Position  
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

RB1 is highly significantly mutated in
Bladder
BLCA
14 patients (14%)
Glioblastoma multiforme
GBM
24 patients (8%)
combined cohort
PanCan
141 patients (2%)
Ovarian
OV
9 patients (2%)
Breast
BRCA
14 patients (1%)
RB1 is significantly mutated in
Lung squamous cell carcinoma
LUSC
12 patients (6%)
Lung adenocarcinoma
LUAD
18 patients (4%)
RB1 is near significance in
Endometrial
UCEC
20 patients (8%)
Carcinoid
CARC
2 patients (3%)
Head and neck
HNSC
11 patients (2%)

Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for RB1