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BLM

Basic information

Official gene symbol
BLM RecQ like helicase
Conventional gene symbol
BS, MGRISCE1, RECQ2, RECQL2, RECQL3
Classification
Tumor suppressor gene
Official gene ID
641(Refseq)
641 (KEGG)
Transcript ID
NM_001287246
Functional classification
Genome maintenance
Signaling pathway
Core DNA Damage Response
Chromosomal location
15q26.1 (chr15:91290623..91358509)
Protein length
1,417

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
chr15:91293080 T TTA 4 / 23 p.K195fs c.582_583insTA   Tier2 1 / 80
chr15:91293148 AAATAGATTTGACTGAGG A 4 / 23 p.I218fs c.653_669delTAGATTTGACTGAGGAA   Tier2 1 / 80
chr15:91295136 G T 5 / 23 p.E307* c.919G>T   Tier2 1 / 80
chr15:91306237 G T 9 / 23 p.E642* c.1924G>T   Tier2 1 / 80
chr15:91326139 G A 14 / 23 p.W881* c.2643G>A   Tier2 1 / 80
chr15:91328282 C T 15 / 23 p.Q932* c.2794C>T   Tier2 1 / 80
chr15:91337464 C A 17 / 23 p.Y1029* c.3087C>A   Tier2 1 / 80
chr15:91341492 C T 18 / 23 p.Q1095* c.3283C>T   Tier2 1 / 80