GRCh38 · COSMIC v83
The gene view histogram is a graphical view of mutations across BLM. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left. Show more
This default peptide view shows a histogram of single base substitutions, colour coded by residue according to the colour scheme used in Ensembl. Under this is shown the amino acid sequence and the Pfam protein structures, followed by complex mutations and insertions and deletions. The graphical view can be switched to cDNA coordinates by selecting from the "Coordinate system" options in the "Filters" panel on the left.
You can use the filters panel to select the types of data that are
displayed. After adjusting a filter, press
filters, or press
Reset filters to revert to the
original, unfiltered display.
You can see more information on the help pages.
This section gives an overview of BLM, along with links to any related data and resources.
Census geneThis is a known cancer gene, from Tier 1 of the Cancer Gene Census. Tier 1 genes have documented evidence of their relevance to cancer.
Curated geneThis is NOT an expert curated gene.Mouse gene
- COSMIC gene
- BLM (COSG626)
- Genomic coordinates
- 15:90747393..90815279 (positive strand)
- BS, MGC126616, MGC131618, MGC131620, RECQ2, RECQL2, RECQL3, CCDS10363.1, ENSG00000197299
There are 8 structures for BLM. View them in COSMIC-3D.
- Number of samples
41894 unique samples
290 unique samples with mutations
- Alternative transcripts
You can see various sequences for this gene:
Protein (BLM) Transcript and protein aligned (ENST00000355112+BLM)
- Gene fusions
- No fusions involving BLM
- Drug sensitivity data
Mutations in BLM are associated with altered sensitivity
to the following 8 drugs:
See all drug sensitivity data for BLM.
This section shows the drugs that have been used to treat BLM mutant tumours. In the tabs below you can see any other genes that have been treated with the same drug(s), and the distribution of mutations that occur in those genes.
The table shows the distribution of mutations across the primary tissue types that are curated by COSMIC. Histograms show the percentage of mutated samples for point mutations, CNV data and gene expression data. Moving your mouse over the histograms will show additional data.
You can see additional information about the data presented here in the help pages.
Note that you can also view the genome browser in a separate page.
The genome browser shows COSMIC annotations for BLM in a genomic context. Show more
Note: in some web browsers the genome browser may display a blank content panel when switching between browser tabs or when returning to the page using the browser's Back button. If this happens please click and drag the blank content panel to reload the genome browser.
This section displays a series of charts that show the distribution of different types of mutations for BLM. Show more
The first chart in this section shows a summary of the types of mutation that have been observed in samples for this gene. The table shows the number of samples recorded as having a particular type of mutation, with the number in brackets giving the percentage of samples with that type of mutation.
Note that a sample may have more than one type of mutation, so the total number of samples determined by simply summing the values in the table may not match the total number of unique samples given under the table. For the same reason, summing the percentages in the table may give a value of greater than 100%.
You can see additional information about this data in the help pages.
This tab displays a table of mutations for the selected gene. You can see more information in our help pages.
|Position (AA)||Mutation (CDS)||Mutation (Amino Acid)||Mutation ID (COSM)||Count||Mutation Type|
This tab displays a table of fusions for the selected gene. You can see more information in our help pages.
|Mutation (Amino Acid)||Mutation ID (COSF)||Count||Mutation Type|
This tab shows a table of gene expression and copy number variation (CNV) data for the selected gene with links to Sample, Study, CNV and (icons) to the ChromoView page (to view CNVs across the whole chromosome), the COSMIC Genome Browser and Ensembl. You can see more information in our help pages.
|Sample||Expression||Expr Level (Z-Score)
Over Expressed; Z-Score > 2.0
Under Expressed; Z-Score < -2.0
Normal; Z-Score within the range -2.0 to 2.0
|CN Type||Minor Allele||Copy Number||CN Segment
1. N/A represents cases where average ploidy value is not available( mostly ICGC samples). For some TCGA samples where minor allele information is not available the average ploidy value could not be calculated.
2. For TCGA samples, Ascat algorithm is used to calculate the average ploidy.
3. For CGP samples, Picnic algorithm is used to calculate the average ploidy.
This page contains the complete Methylation data for the gene and filter selection(s). Each Methylation probe links to the COSMIC Genome Browser and Ensembl. You can see more information in out help pages.
|Sample Name||Sample ID||Probe ID||Probe Posn.||Type
High (Hypermethylation); Beta-Value > 0.8 and differs from normal average by > 0.5
Low (Hypomethylated); Beta-Value < 0.2 and differs from normal average by > 0.5
|Level (Beta-Value)||Normal Average||Study|
This section shows publications associated with BLM. You can see more information in our help pages.
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