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ESR1

Basic information

Official gene symbol
estrogen receptor 1
Conventional gene symbol
ER, ESR, ESRA, ESTRR, Era, NR3A1
Classification
Oncogene / Tumor suppressor gene
Official gene ID
2099(Refseq)
2099 (KEGG)
Transcript ID
NM_001122742
Functional classification
Tumor growth and progression
Signaling pathway
Nuclear receptor
Chromosomal location
6q25.1-q25.2 (chr6:152129048..152420101)
Protein length
595

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
chr6:152415555 C G 9 / 10 p.L469V c.1405C>G   Tier2 1 / 100
chr6:152419920 T C 10 / 10 p.L536P c.1607T>C COSV52782930 Tier2 1 / 100
chr6:152419920 T G 10 / 10 p.L536R c.1607T>G COSV52787207 Tier1 2 / 100
chr6:152419926 A G 10 / 10 p.D538G c.1613A>G COSV52781024 Tier1 1 / 100