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ASXL1

Basic information

Official gene symbol
ASXL transcriptional regulator 1
Conventional gene symbol
BOPS
Classification
Tumor suppressor gene
Official gene ID
171023(Refseq)
171023 (KEGG)
Transcript ID
NM_015338
Functional classification
Epigenetic regulation
Signaling pathway
Epigenetic modification
Chromosomal location
20q11.21 (chr20:30946579..31025141)
Protein length
1,541

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
chr20:31020757 G T 10 / 13 p.E352* c.1054G>T   Tier2 1 / 117
chr20:31021211 C T 11 / 13 p.R404* c.1210C>T COSV60102210 Tier2 1 / 117
chr20:31021286 G T 11 / 13 p.E429* c.1285G>T   Tier2 1 / 117
chr20:31021673 G T 11 / 13 p.E558* c.1672G>T   Tier2 1 / 117
chr20:31021691 A T 11 / 13 p.K564* c.1690A>T   Tier2 1 / 117
chr20:31022245 C A 12 / 13 p.S577* c.1730C>A COSV60104299 Tier2 1 / 117
chr20:31022667 A T 12 / 13 p.R718* c.2152A>T   Tier2 1 / 117
chr20:31022700 AG A 12 / 13 p.S729fs c.2186delG   Tier2 1 / 117
chr20:31022832 G T 12 / 13 p.E773* c.2317G>T COSV60108309 Tier2 1 / 117
chr20:31022853 C T 12 / 13 p.Q780* c.2338C>T COSV60107863 Tier2 1 / 117
chr20:31022883 G T 12 / 13 p.E790* c.2368G>T   Tier2 1 / 117
chr20:31023306 G T 12 / 13 p.E931* c.2791G>T COSV60125568 Tier2 1 / 117
chr20:31023466 A AT 12 / 13 p.K984fs c.2951_2952insT   Tier2 1 / 117
chr20:31024197 G T 12 / 13 p.E1228* c.3682G>T COSV60111078 Tier2 1 / 117
chr20:31024458 C T 12 / 13 p.Q1315* c.3943C>T   Tier2 1 / 117