Short Genetic Variants from European Variant Archive Release 3 (rs245640811)
 
Outside Link: rs245640811
Item: rs245640811
Score: 0
Position: chr12:56745787-56745787
Band: 12qC1
Genomic Size: 1
View DNA for this feature (mm10/Mouse)

The sequence of the reference alleleC
The sequences of the alternate allelesT
The variant class (VC) from EVA Sequence Ontology termsubstitution
Submitter ID (SID) reporting a variantPRJEB6911,DROKAMURALAB_JF1_WHOLE_GENOME_RESEQUENCING-HOMO-B6-JF1
Functional class per UCSC Variant Annotation Integratorintron_variant
Change in amino acid
View table schema

Go to EVA SNP Release 3 track controls

Data last updated at UCSC: 2022-05-03 19:23:41


new Note: Released at UCSC April 22, 2022

Description

This track contains mappings of single nucleotide variants and small insertions and deletions (indels) — collectively Simple Nucleotide Variants (SNVs) — from the European Variation Archive (EVA) Release 3 for the mouse mm10 genome. The dbSNP database at NCBI no longer hosts non-human variants.

Interpreting and Configuring the Graphical Display

Variants are shown as single tick marks at most zoom levels. When viewing the track at or near base-level resolution, the displayed width of the SNP variant corresponds to the width of the variant in the reference sequence. Insertions are indicated by a single tick mark displayed between two nucleotides, single nucleotide polymorphisms are displayed as the width of a single base, and multiple nucleotide variants are represented by a block that spans two or more bases. The display is set to automatically collapse to dense visibility when there are more than 100k variants in the window. When the window size is more than 250k bp, the display is switched to density graph mode.

Searching, details, and filtering

Navigation to an individual variant can be accomplished by typing or copying the variant identifier (rsID) or the genomic coordinates into the Position/Search box on the Browser.

A click on an item in the graphical display displays a page with data about that variant. Data fields include the Reference and Alternate Alleles, the class of the variant as reported by EVA, the source of the data, the amino acid change, if any, and the functional class as determined by UCSC's Variant Annotation Integrator.

Variants can be filtered using the track controls to show subsets of the data by either EVA Sequence Ontology (SO) term, UCSC-generated functional effect, or by color, which bins the UCSC functional effects into general classes.

Mouse-over

Mousing over an item shows the ucscClass, which is the consequence according to the Variant Annotation Integrator, and the aaChange when one is available, which is the change in amino acid in HGVS.p terms. Items may have multiple ucscClasses, which will all be shown in the mouse-over in a comma-separated list. Likewise, multiple HGVS.p terms may be shown for each rsID separated by spaces describing all possible AA changes.

Multiple items may appear due to different variant predictions on multiple gene transcripts. For all organisms the gene models used were ncbiRefSeqCurated, except for mm39 which used ncbiRefSeqSelect.

Track colors

Variants are colored according to the most potentially deleterious functional effect prediction according to the Variant Annotation Integrator. Specific bins can be seen in the Methods section below.

Color Variant Type
Protein-altering variants and splice site variants
Synonymous codon variants
Non-coding transcript or Untranslated Region (UTR) variants
Intergenic and intronic variants

Sequence ontology (SO)

Variants are classified by EVA into one of the following sequence ontology terms:

  • substitution — A single nucleotide in the reference is replaced by another, alternate allele
  • deletion — One or more nucleotides is deleted. The representation in the database is to display one additional nucleotide in both the Reference field (Ref) and the Alternate Allele field (Alt). E.g. a variant that is a deletion of an A maybe be represented as Ref = GA and Alt = G.
  • insertion — One or more nucleotides is inserted. The representation in the database is to display one additional nucleotide in both the Reference field (Ref) and the Alternate Allele field (Alt). E.g. a variant that is an insertion of a T maybe be represented as Ref = G and Alt = GT
  • delins — Similar to tandemRepeat, in that the runs of Ref and Alt Alleles are of different length, except that there is more than one type of nucleotide, e.g., Ref = CCAAAAACAAAAACA, Alt = ACAAAAAC.
  • multipleNucleotideVariant — More than one nucleotide is substituted by an equal number of different nucleotides, e.g., Ref = AA, Alt = GC.
  • sequence alteration — A parent term meant to signify a deviation from another sequence. Can be assigned to variants that have not been characterized yet.

Methods

Data were downloaded from the European Variation Archive EVA release 3 (2022-02-24) current_ids.vcf.gz files corresponding to the proper assembly.

Chromosome names were converted to UCSC-style, a few problematic variants were removed, and the variants passed through the Variant Annotation Integrator to predict consequence. For every organism the ncbiRefSeqCurated gene models were used to predict the consequences, except for mm39 which used the ncbiRefSeqSelect models.

Variants were then colored according to their predicted consequence in the following fashion:

  • Protein-altering variants and splice site variants - exon_loss_variant, frameshift_variant, inframe_deletion, inframe_insertion, initiator_codon_variant, missense_variant, splice_acceptor_variant, splice_donor_variant, splice_region_variant, stop_gained, stop_lost, coding_sequence_variant, transcript_ablation
  • Synonymous codon variants - synonymous_variant, stop_retained_variant
  • Non-coding transcript or Untranslated Region (UTR) variants - 5_prime_UTR_variant, 3_prime_UTR_variant, complex_transcript_variant, non_coding_transcript_exon_variant
  • Intergenic and intronic variants - upstream_gene_variant, downstream_gene_variant, intron_variant, intergenic_variant, NMD_transcript_variant, no_sequence_alteration

Sequence Ontology ("SO:") terms were converted to the variant classes, then the files were converted to BED, and then bigBed format.

No functional annotations were provided by the EVA (e.g., missense, nonsense, etc). These were computed using UCSC's Variant Annotation Integrator (Hinrichs, et al., 2016). Amino-acid substitutions for missense variants are based on RefSeq alignments of mRNA transcripts, which do not always match the amino acids predicted from translating the genomic sequence. Therefore, in some instances, the variant and the genomic nucleotide and associated amino acid may be reversed. E.g., a Pro > Arg change from the perspective of the mRNA would be Arg > Pro from the persepective the genomic sequence. For complete documentation of the processing of these tracks, read the EVA Release 3 MakeDoc.

Data Access

Note: It is not recommeneded to use LiftOver to convert SNPs between assemblies, and more information about how to convert SNPs between assemblies can be found on the following FAQ entry.

The data can be explored interactively with the Table Browser, or the Data Integrator. For automated analysis, the data may be queried from our REST API. Please refer to our mailing list archives for questions, or our Data Access FAQ for more information.

For automated download and analysis, this annotation is stored in a bigBed file that can be downloaded from our download server. The file for this track is called evaSnp.bb. Individual regions or the whole genome annotation can be obtained using our tool bigBedToBed which can be compiled from the source code or downloaded as a precompiled binary for your system. Instructions for downloading source code and binaries can be found here. The tool can also be used to obtain only features within a given range, e.g.

bigBedToBed https://hgdownload.soe.ucsc.edu/gbdb/mm10/bbi/evaSnp.bb -chrom=chr21 -start=0 -end=100000000 stdout

Credits

This track was produced from the European Variation Archive release 3 data. Consequences were predicted using UCSC's Variant Annotation Integrator and NCBI's RefSeq gene models.

References

Cezard T, Cunningham F, Hunt SE, Koylass B, Kumar N, Saunders G, Shen A, Silva AF, Tsukanov K, Venkataraman S et al. The European Variation Archive: a FAIR resource of genomic variation for all species. Nucleic Acids Res. 2021 Oct 28:gkab960. doi:10.1093/nar/gkab960. Epub ahead of print. PMID: 34718739. PMID: PMC8728205.

Hinrichs AS, Raney BJ, Speir ML, Rhead B, Casper J, Karolchik D, Kuhn RM, Rosenbloom KR, Zweig AS, Haussler D, Kent WJ. UCSC Data Integrator and Variant Annotation Integrator. Bioinformatics. 2016 May 1;32(9):1430-2. PMID: 26740527; PMC: PMC4848401