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EP300

Basic information

Official gene symbol
E1A binding protein p300
Conventional gene symbol
KAT3B, MKHK2, RSTS2, p300
Classification
Tumor suppressor gene
Official gene ID
2033(Refseq)
2033 (KEGG)
Transcript ID
NM_001429
Functional classification
Epigenetic regulation
Signaling pathway
Epigenetic modification
Chromosomal location
22q13.2 (chr22:41489009..41574960)
Protein length
2,414

Chromosome ideogram

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
chr22:41513520 G T 2 / 31 p.G142* c.424G>T   Tier2 1 / 142
chr22:41513738 T TA 2 / 31 p.A215fs c.642_643insA   Tier2 1 / 142
chr22:41533772 C T 8 / 31 p.R580* c.1738C>T COSV54332476 Tier1 3 / 142
chr22:41547868 AG A 15 / 31 p.V951fs c.2851delG   Tier2 1 / 142
chr22:41553297 G A 18 / 31 p.W1129* c.3386G>A   Tier2 1 / 142
chr22:41554487 T G 19 / 31 p.Y1191* c.3573T>G   Tier2 1 / 142
chr22:41564505 TCTGAGGCGACAGAATCACC T 24 / 31 p.R1311fs c.3933_3951delGCGACAGAATCACCCTGAG   Tier2 1 / 142
chr22:41564512 C T 24 / 31 p.R1312* c.3934C>T COSV54328581 Tier2 1 / 142
chr22:41565529 G A 26 / 31 p.D1399N c.4195G>A COSV54326888 Tier2 2 / 142
chr22:41565575 A G 26 / 31 p.Y1414C c.4241A>G COSV54325155 Tier2 2 / 142
chr22:41566513 C T 27 / 31 p.Q1464* c.4390C>T   Tier2 1 / 142
chr22:41566524 C CAAAAAAATGCTGCAGGAATGGTACA 27 / 31 p.D1472fs c.4412_4413insGCAGGAATGGTACAAAAAAAATGCT   Tier2 1 / 142
chr22:41568635 C T 28 / 31 p.R1529* c.4585C>T COSV54325565 Tier2 1 / 142
chr22:41569774 G T 29 / 31 p.E1589* c.4765G>T   Tier2 1 / 142
chr22:41572389 G T 30 / 31 p.E1640* c.4918G>T COSV54336147 Tier2 1 / 142
chr22:41572404 C T 30 / 31 p.R1645* c.4933C>T COSV54327123 Tier2 1 / 142
chr22:41573057 TCTGCAAGCAGCTCATTGCC T 31 / 31 p.C1782fs c.5345_5363delGCAAGCAGCTCATTGCCCT   Tier2 1 / 142
chr22:41574502 C T 31 / 31 p.R2263* c.6787C>T COSV54337914 Tier2 1 / 142
chr22:41574788 C CA 31 / 31 p.M2359fs c.7073_7074insA   Tier2 1 / 142