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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: RB1 ENSG00000139687

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Description

retinoblastoma 1 [Source:HGNC Symbol;Acc:9884]

Gene Synonyms

OSRC, RB, p105-Rb, pRb, pp110

Location

Chromosome 13: 48,877,887-49,056,122 forward strand.

GRCh37:CM000675.1

About this gene

This gene has 6 transcripts (splice variants), 2 paralogues and is associated with 107 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000267163.4	RB1-002	4840	928aa	ENSP00000267163.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS31973	B4DRB3 P06400 P78495 Q6DUF0 Q6LE65 Q6LE77 Q6LE79 Q6LE80 Q6LE81 Q6LE82 Q7KZ60 Q7KZ61	NM_000321.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000467505.1	RB1-003	480	53aa	ENSP00000434702.1	Nonsense mediated decay		Q92728	-	-
ENST00000484879.1	RB1-001	1097	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000531171.1	RB1-005	658	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000480491.1	RB1-004	617	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000525036.1	RB1-006	1490	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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