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SETD2

Basic information

Official gene symbol
SET domain containing 2, histone lysine methyltransferase
Conventional gene symbol
HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, LLS, SET2, p231HBP
Classification
Tumor suppressor gene
Official gene ID
29072(Refseq)
29072 (KEGG)
Transcript ID
NM_014159
Functional classification
Epigenetic regulation
Signaling pathway
Epigenetic modification
Chromosomal location
3p21.31 (chr3:47058583..47205414, complement)
Protein length
2,564

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
chr3:47161694 C A 3 / 21 p.E1478* c.4432G>T COSV57436969 Tier2 1 / 120
chr3:47163233 C A 3 / 21 p.E965* c.2893G>T COSV57457123 Tier2 1 / 120
chr3:47163310 G T 3 / 21 p.S939* c.2816C>A   Tier2 1 / 120
chr3:47163422 C A 3 / 21 p.E902* c.2704G>T   Tier2 1 / 120
chr3:47164042 A C 3 / 21 p.L695* c.2084T>G   Tier2 1 / 120
chr3:47164118 C A 3 / 21 p.E670* c.2008G>T COSV57446526 Tier2 1 / 120
chr3:47164760 G A 3 / 21 p.R456* c.1366C>T   Tier2 1 / 120
chr3:47164928 G A 3 / 21 p.R400* c.1198C>T COSV57443300 Tier2 1 / 120
chr3:47165741 C A 3 / 21 p.E129* c.385G>T   Tier2 1 / 120
chr3:47139465 G A 9 / 21 p.R1708* c.5122C>T COSV57449337 Tier2 1 / 120
chr3:47125317 CCT C 12 / 21 p.E1984fs c.5951_5952delAG   Tier2 1 / 120
chr3:47108581 G A 13 / 21 p.Q2030* c.6088C>T   Tier2 1 / 120
chr3:47103717 G A 14 / 21 p.R2077* c.6229C>T COSV57434124 Tier2 1 / 120
chr3:47103828 G A 14 / 21 p.R2040* c.6118C>T COSV57434358 Tier2 1 / 120
chr3:47098421 G A 15 / 21 p.Q2285* c.6853C>T   Tier2 1 / 120
chr3:47098949 G A 15 / 21 p.R2109* c.6325C>T COSV57430221 Tier2 1 / 120
chr3:47098955 T A 15 / 21 p.K2107* c.6319A>T   Tier2 1 / 120
chr3:47084068 G T 17 / 21 p.Y2407* c.7221C>A   Tier2 1 / 120
chr3:47061267 C A 19 / 21 p.E2472* c.7414G>T   Tier2 1 / 120
chr3:47058633 G A 21 / 21 p.Q2549* c.7645C>T   Tier2 1 / 120
chr3:47058662 TTG T 21 / 21 p.H2538fs c.7614_7615delCA   Tier2 1 / 120