GRCh38 · COSMIC v99

Gene view

The gene view histogram is a graphical view of mutations across AASDH_ENST00000513376. 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 Apply filters, or press Reset filters to revert to the original, unfiltered display.

You can see more information on the help pages.


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Overview

This section gives an overview of AASDH_ENST00000513376, along with links to any related data and resources.

Census gene
This is NOT a known cancer gene. It is not found in the Cancer Gene Census.
Curated gene
This is NOT an expert curated gene.
Mouse gene
Mouse insertional mutagenesis experiments DO NOT support the designation of AASDH_ENST00000513376 as a cancer causing gene.
More information
Hallmark gene
This gene does not have a cancer hallmark. You can see more information about hallmarks.
COSMIC gene
AASDH_ENST00000513376 (COSG513376)
Genomic coordinates
4:56338290..56387423  (negative strand)
Synonyms
AASDH, ACSF4, LYS2, NRPS998, CCDS68705.1, Q4L235, ENSG00000157426.13, NM_001286668.1, NP_001273597
COSMIC-3D
Couldn't retrieve COSMIC-3D data at this time
Number of samples
44684 unique samples
740 unique samples with mutations
Alternative transcripts
AASDH, AASDH_ENST00000602986, AASDH_ENST00000451613, AASDH_ENST00000502617
Sequences
You can see various sequences for this gene:
cDNA (ENST00000513376.5)
Protein (AASDH_ENST00000513376)
Transcript and protein aligned (ENST00000513376.5+AASDH_ENST00000513376)
Gene fusions
No fusions involving AASDH_ENST00000513376
Drug sensitivity data
n/a

Drug resistance

This section shows the drugs associated with AASDH_ENST00000513376 resistance mutations. In the tabs below you can see any other genes that have resistance mutations to the same drug(s), and the distribution of mutations that occur in those genes.

Alternative transcripts are also displayed here for genes where reported resistant mutations are not located on the canonical transcript but are on the alternative, and also where reported resistant mutations are located at the same genomic position on both the canonical and alternative transcripts or on overlapping genes and/or fusions and share a COSM id.

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Tissue distribution

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. The number of samples tested on this page include samples from the targeted and whole genomes/exome resequencing where all the protein coding genes have been screened for mutations.

You can see additional information about the data presented here in the help pages.

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Genome browser

Note that you can also view the genome browser in a separate page.

The genome browser shows COSMIC annotations for AASDH_ENST00000513376 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.


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Mutation distribution

This section displays a series of charts that show the distribution of different types of mutations for AASDH_ENST00000513376. 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.

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Variants

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) Legacy Mutation ID
Legacy mutation identifier (COSM) represents existing COSM mutation identifiers. This identifier remains the same between different assemblies (GRCh37 and GRCh38). All the COSM ids at the same genomic location have been collapsed into one representative COSM id. These ids are maintained to help track existing mutations.
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.

Table Information

Hide

The table currently shows only high value (numeric) copy number data. Copy number segments are excluded if the total copy number and minor allele values are unknown.

Click here to include all copy number data. For more detailed information about copy number data and gain/loss definitions click here.

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
Position
Average Ploidy

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.

Study CNV

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

References

This section shows publications associated with AASDH_ENST00000513376. You can see more information in our help pages.

Reference Title Author Year Journal Status COSMIC Pubmed