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RB1

Basic information

Official gene symbol
RB transcriptional corepressor 1
Conventional gene symbol
OSRC, PPP1R130, RB, p105-Rb, p110-RB1, pRb, pp110
Classification
Tumor suppressor gene
Official gene ID
5925(Refseq)
5925 (KEGG)
Transcript ID
NM_000321
Functional classification
Cell cycle
Signaling pathway
Cell cycle
Chromosomal location
13q14.2 (chr13:48878049..49054207)
Protein length
928

Chromosome ideogram

Pathway map

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
chr13:48878114 ACCG A 1 / 27 p.P27del c.78_80delGCC   Tier1 1 / 143
chr13:48878148 G T 1 / 27 p.E34* c.100G>T   Tier2 1 / 143
chr13:48881438 G T 2 / 27 p.E54* c.160G>T COSV57322209 Tier2 1 / 143
chr13:48881462 C T 2 / 27 p.Q62* c.184C>T COSV57299669 Tier2 1 / 143
chr13:48881488 C CAG 2 / 27 p.A74fs c.219_220dupAG COSV57302795 Tier2 2 / 143
chr13:48881523 CA C 2 / 27 p.S83fs c.246delA   Tier2 1 / 143
chr13:48881534 G T 2 / 27 p.G86* c.256G>T COSV57322295 Tier2 1 / 143
chr13:48916759 GA G 3 / 27 p.E97fs c.291delA   Tier2 1 / 143
chr13:48916788 AG A 3 / 27 p.A107fs c.319delG   Tier2 1 / 143
chr13:48916790 CA C 3 / 27 p.V108fs c.321delA   Tier2 1 / 143
chr13:48916793 TTG T 3 / 27 p.D109fs c.324_325delTG   Tier2 1 / 143
chr13:48919244 G T 4 / 27 p.E137* c.409G>T COSV57300832 Tier1 4 / 143
chr13:48923116 ATTGGTGCTAAAAGTTTC A 6 / 27 p.V190fs c.569_585delTGCTAAAAGTTTCTTGG   Tier2 1 / 143
chr13:48934160 AT A 7 / 27 p.L206fs c.617delT   Tier2 1 / 143
chr13:48934217 CTATTT C 7 / 27 p.F226fs c.677_681delTTATT COSV104564967 Tier2 1 / 143
chr13:48934254 G T 7 / 27 p.E237* c.709G>T   Tier2 4 / 143
chr13:48934263 A T 7 / 27 p.K240* c.718A>T COSV57326471 Tier2 1 / 143
chr13:48936995 C T 8 / 27 p.R255* c.763C>T COSV57299867 Tier1 1 / 143
chr13:48941648 C T 10 / 27 p.R320* c.958C>T COSV57297576 Tier1 3 / 143
chr13:48941657 G T 10 / 27 p.E323* c.967G>T COSV57317831 Tier2 1 / 143
chr13:48947560 C T 12 / 27 p.Q383* c.1147C>T COSV57312613 Tier2 1 / 143
chr13:48947629 G A 12 / 27   c.1215+1G>A COSV57294939 Tier1 1 / 143
chr13:48951059 C A 13 / 27 p.C407* c.1221C>A   Tier2 1 / 143
chr13:48951075 G T 13 / 27 p.E413* c.1237G>T COSV57296743 Tier2 1 / 143
chr13:48951162 G T 13 / 27 p.G442* c.1324G>T   Tier2 1 / 143
chr13:48953760 C T 14 / 27 p.R455* c.1363C>T COSV57297545 Tier1 3 / 143
chr13:48955425 TC T 17 / 27 p.P515fs c.1544delC   Tier2 1 / 143
chr13:48955465 T TG 17 / 27 p.F528fs c.1581_1582insG   Tier2 1 / 143
chr13:48955517 G T 17 / 27 p.E545* c.1633G>T COSV57296760 Tier2 2 / 143
chr13:48955535 G T 17 / 27 p.E551* c.1651G>T COSV57327592 Tier2 1 / 143
chr13:48955538 C T 17 / 27 p.R552* c.1654C>T COSV57297124 Tier1 1 / 143
chr13:48955550 C T 17 / 27 p.R556* c.1666C>T COSV57296489 Tier1 2 / 143
chr13:48955565 CT C 17 / 27 p.A562fs c.1683delT   Tier2 1 / 143
chr13:48955573 G A 17 / 27 p.W563* c.1689G>A COSV57303164 Tier1 1 / 143
chr13:48955580 G A 17 / 27   c.1695+1G>A COSV99925943 Tier1 2 / 143
chr13:49027133 C T 18 / 27 p.S567L c.1700C>T COSV57298146 Tier2 1 / 143
chr13:49027160 C G 18 / 27 p.S576* c.1727C>G COSV57300560 Tier2 1 / 143
chr13:49027168 C T 18 / 27 p.R579* c.1735C>T COSV57294317 Tier1 3 / 143
chr13:49027168 CG C 18 / 27 p.R579fs c.1736delG   Tier2 1 / 143
chr13:49027186 CA C 18 / 27 p.H585fs c.1754delA   Tier2 1 / 143
chr13:49030434 C T 19 / 27 p.Q637* c.1909C>T COSV57300672 Tier1 1 / 143
chr13:49030479 A T 19 / 27 p.K652* c.1954A>T COSV57298520 Tier2 1 / 143
chr13:49033822 A T 19 / 27   c.1961-2A>T   Tier1 2 / 143
chr13:49033844 C T 20 / 27 p.R661W c.1981C>T COSV57295487 Tier1 1 / 143
chr13:49033892 G T 20 / 27 p.E677* c.2029G>T COSV57306899 Tier2 1 / 143
chr13:49033906 G A 20 / 27 p.W681* c.2043G>A COSV57304425 Tier2 1 / 143
chr13:49033913 TTCCAGCACACC T 20 / 27 p.F684fs c.2051_2061delTCCAGCACACC   Tier2 1 / 143
chr13:49033916 C T 20 / 27 p.Q685* c.2053C>T COSV57323601 Tier2 1 / 143
chr13:49033955 AG A 20 / 27 p.R698fs c.2094delG   Tier2 1 / 143
chr13:49039169 T A 22 / 27 p.Y749* c.2247T>A   Tier1 1 / 143
chr13:49039374 C T 23 / 27 p.R787* c.2359C>T COSV57296164 Tier1 1 / 143
chr13:49039384 ACAAGTTTC A 23 / 27 p.K791fs c.2371_2378delAAGTTTCC   Tier2 1 / 143
chr13:49039394 TAGTTCACCCTTACGGATTCCTGG T 23 / 27 p.S794fs c.2382_2404delTTCACCCTTACGGATTCCTGGAG   Tier2 1 / 143
chr13:49039502 AAGGTG A 23 / 27 p.R830fs c.2488_2489+3delAGGTG   Tier2 1 / 143
chr13:49047519 C G 24 / 27 p.S838* c.2513C>G   Tier2 1 / 143