RB1 (Entrez ID: 5925)

Entrez Gene ID	5925
Official Gene Symbol	RB1 (GeneCards)
Full name	RB transcriptional corepressor 1
Location	13q14.2
Other ids	Vega : OTTHUMG00000016900 MIM : 614041 HGNC : HGNC:9884 Ensembl : ENSG00000139687
Other names	RB, pRb, OSRC, pp110, p105-Rb, PPP1R130
Summary	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. [provided by RefSeq, Jul 2008]

Variants

Found 10 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
1524	5925	RB1	13	49039240	49039240	Aplastic Anaemia	HiSeq 2500
27760	5925	RB1	13	48979918	48979918	Asymptomatic	HiSeq 2500 Single cell Sequencing Cell cloning
29339	5925	RB1	13	48941688	48941688	Autism Spectrum Disorders	HiSeq 2500 Single cell Sequencing Cell cloning MiSeq
30629	5925	RB1	13	48934176	48934176	Asymptomatic	HiSeq 2500 Single cell Sequencing Cell cloning MiSeq NGS gene panel
31641	5925	RB1	13	49037901	49037901	Asymptomatic	HiSeq 2500 Single cell Sequencing Cell cloning MiSeq NGS gene panel
31642	5925	RB1	13	48923110	48923110	Asymptomatic	HiSeq 2500 Single cell Sequencing Cell cloning MiSeq NGS gene panel
31643	5925	RB1	13	48921999	48921999	Asymptomatic	HiSeq 2500 Single cell Sequencing Cell cloning MiSeq NGS gene panel
33246	5925	RB1	13	48881441	48881441	Asymptomatic	HiSeq 2500 Single cell Sequencing Cell cloning MiSeq NGS gene panel
34051	5925	RB1	13	49039482	49039482	Asymptomatic	HiSeq 2500 Single cell Sequencing Cell cloning MiSeq NGS gene panel
34052	5925	RB1	13	48921990	48921990	Asymptomatic	HiSeq 2500 Single cell Sequencing Cell cloning MiSeq NGS gene panel