Gene: LOC112268118

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: RB1

Alternate names for this Gene: OSRC|PPP1R130|RB|p105-Rb|p110-RB1|pRb|pp110

Gene 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.

Gene is located in Chromosome: 13

Location in Chromosome : 13q14.2

Description of this Gene: RB transcriptional corepressor 1

Type of Gene: protein-coding

rs1131690870 in LOC112268118;RB1 gene and Neoplastic Syndromes, Hereditary PMID 8651278 1996 The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

PMID 17960112 2007 Ten novel RB1 gene mutations in patients with retinoblastoma.

PMID 27983729 2017 Genetic screening in Iranian patients with retinoblastoma.

PMID 15605413 2005 Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.

PMID 12402348 2002 Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 12541220 2003 Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

PMID 14722923 2004 Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

PMID 7704558 1994 Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.

PMID 24688104 2014 RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients.

PMID 25754945 2015 Genetic screening in patients with Retinoblastoma in Israel.

PMID 26396485 2015 Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

PMID 22328814 2012 Phenotypic variability of retinocytomas: preregression and postregression growth patterns.

PMID 7795591 1995 Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.

PMID 14769601 2004 Rapid identification of germline mutations in retinoblastoma by protein truncation testing.

PMID 25928201 2015 Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.

PMID 15884040 2005 Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

PMID 28803391 2018 Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan.

PMID 17096365 2007 Genotype-phenotype correlations in hereditary familial retinoblastoma.

PMID 18181215 2008 Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.

PMID 9973307 1999 RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.

PMID 9311732 1997 Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.

PMID 15776430 2005 Conservation of the RB1 gene in human and primates.

PMID 12955724 2003 Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations.

PMID 1577465 1992 Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis.

rs121913300 in LOC112268118;RB1 gene and Retinoblastoma PMID 12541220 2003 Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

PMID 24225018 2014 Spectrum of RB1 mutations identified in 403 retinoblastoma patients.

PMID 25754945 2015 Genetic screening in patients with Retinoblastoma in Israel.

PMID 7704558 1994 Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.

PMID 15605413 2005 Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.

PMID 28575107 2017 Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 22219649 2011 Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.

PMID 22328814 2012 Phenotypic variability of retinocytomas: preregression and postregression growth patterns.

PMID 25928201 2015 Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.

PMID 7795591 1995 Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.

PMID 27582626 2016 Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

PMID 24078560 2013 [Characteristics of RB1 gene mutations in Chinese patients with retinoblastoma].

PMID 17096365 2007 Genotype-phenotype correlations in hereditary familial retinoblastoma.

PMID 15884040 2005 Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 18181215 2008 Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.

PMID 24791139 2014 Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

PMID 26530098 2015 Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

PMID 24688104 2014 RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients.

PMID 2601691 1989 Mutations in the RB1 gene and their effects on transcription.

PMID 26396485 2015 Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 9973307 1999 RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.

PMID 2594029 1989 Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.

PMID 8346255 1993 Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma.

PMID 7927327 1994 Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.

PMID 9140452 1997 Genetics of retinoblastoma: a study.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 10671068 1998 Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online.

PMID 1352883 1992 Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

PMID 9311732 1997 Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.

PMID 11524739 2001 Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 8605116 1995 Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 8776589 1996 Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.