Hs07023769_cn

• Gene Symbol: RB1
• Assay Reference Genome Location: Chr.13:48343732 on build GRCh38
• Cytoband: 13q14.2

Target Gene Details

• Entrez Gene ID: 5925
• Gene Name: RB transcriptional corepressor 1
• Gene Aliases: OSRC, PPP1R130, RB, p105-Rb, pRb, pp110
• Location: Chr.13:48303747-48481890 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RB1	NM_000321.2			NP_000312.2
	XM_011535171.2			XP_011533473.1
	AB208788.1			BAD92025.1
	AK291258.1
	AK299179.1
	AK300284.1
	AK307730.1
	BC039060.1			AAH39060.1
	BC040540.1			AAH40540.1
	L41870.1			AAB59465.1
	M15400.1			AAA69807.1
	M19701.1			AAA60259.1
	M28419.1			AAA69808.1
	M33647.1			AAA69806.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv1648n100	Chr.13:48324814 - 48351221 on Build GRCh38	Loss	RB1
nsv1042504	Chr.13:48337128 - 48351221 on Build GRCh38	Loss	RB1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Process(es)

cell cycle checkpoint
G1/S transition of mitotic cell cycle
regulation of transcription involved in G1/S transition of mitotic cell cycle
chromatin remodeling
transcription, DNA-templated
negative regulation of protein kinase activity
cell cycle arrest
negative regulation of transcription from RNA polymerase II promoter during mitosis
mitotic cell cycle checkpoint
Ras protein signal transduction
regulation of mitotic cell cycle
negative regulation of gene expression
viral process
covalent chromatin modification
androgen receptor signaling pathway
sister chromatid biorientation
neuron projection development
maintenance of mitotic sister chromatid cohesion
glial cell apoptotic process
skeletal muscle cell differentiation
neuron maturation
enucleate erythrocyte differentiation
negative regulation of sequence-specific DNA binding transcription factor activity
regulation of lipid kinase activity
myoblast differentiation
positive regulation of macrophage differentiation
positive regulation of mitotic metaphase/anaphase transition
negative regulation of smoothened signaling pathway
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
digestive tract development
cell morphogenesis involved in neuron differentiation
negative regulation of epithelial cell proliferation
striated muscle cell differentiation
cell division
neuron apoptotic process
protein localization to chromosome, centromeric region
cellular response to xenobiotic stimulus
regulation of cohesin loading
negative regulation of transcription involved in G1/S transition of mitotic cell cycle
regulation of centromere complex assembly
hepatocyte apoptotic process
negative regulation of G1/S transition of mitotic cell cycle
positive regulation of transcription regulatory region DNA binding

Function(s)

core promoter binding
RNA polymerase II activating transcription factor binding
DNA binding
transcription factor activity, sequence-specific DNA binding
transcription coactivator activity
protein binding
transcription factor binding
kinase binding
ubiquitin protein ligase binding
identical protein binding
androgen receptor binding
phosphoprotein binding