Genome Feature Type Definitions
Many of the MGI classification terms come from the Sequence Ontology (SO) project. The SO project develops terms and relationships describing features and attributes of biological sequences. When the MGI term definition comes from the SO project, the corresponding SO ID for that term appears.
| Feature Type | MGI Definition | Corresponding SO ID |
|---|---|---|
| gene | A region (or regions) that include all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions, and/or other functional sequence regions. | SO:0000704 |
| protein coding gene | A gene that produces at least one transcript that is translated into a protein. | |
| non-coding RNA gene | A gene that produces an RNA transcript that functions as the gene product. | |
| rRNA gene | A gene that encodes ribosomal RNA. | SO:0001637 |
| tRNA gene | A gene that encodes Transfer RNA. | |
| snRNA gene | A gene that encodes a Small Nuclear RNA. | |
| snoRNA gene | A gene that encodes for Small Nucleolar RNA. | |
| miRNA gene | A gene that encodes for microRNA. | |
| scRNA gene | A gene that encodes for Small Cytoplasmic RNA. | |
| lincRNA gene | A gene that encodes large intervening non-coding RNA. | SO:0001641 |
| SRP RNA gene | A gene that encodes the signal recognition particle RNA. | SO:0000590 |
| RNase P RNA gene | A gene that encodes RNase P RNA, the RNA component of Ribonuclease P (RNase P). | |
| RNase MRP RNA gene | A gene that encodes RNase MRP RNA. | SO:0001640 |
| telomerase RNA gene | A non-coding RNA gene, the RNA product of which is a component of telomerase. | SO:0001643 |
| Unclassified non-coding RNA gene | A non-coding RNA gene not classified The RNA product of this non-coding is a component of telomerase. | |
| heritable phenotypic marker | A biological region characterized as a single heritable trait in a phenotype screen. The heritable phenotype may be mapped to a chromosome but generally has not been characterized to a specific gene locus. | SO:0001500 |
| gene segment | A gene component region which acts as a recombinational unit of a gene whose functional form is generated through somatic recombination. | SO:3000000 |
| unclassified gene | A region of the genome associated with transcript and/or prediction evidence but where feature classification is imprecise. | |
| other feature types | MGI markers that are not classified as gene including pseudogenes, QTL, transgenes, gene clusters, cytogenetic markers, & unclassified genome features. | |
| QTL | A quantitative trait locus (QTL) is a polymorphic locus which contains alleles that differentially affect the expression of a continuously distributed phenotypic trait. Usually it is a marker described by statistical association to quantitative variation in the particular phenotypic trait that is thought to be controlled by the cumulative action of alleles at multiple loci. | SO:0000771 |
| transgene | A gene that has been transferred naturally or by any of a number of genetic engineering techniques from one organism to another. | SO:0000902 |
| complex/cluster/region | A group of linked markers characterized by related sequence and/or function where the precise location or identity of the individual components is obscure. | |
| cytogenetic marker | A structure within a chromosome or a chromosomal rearrangement that is visible by microscopic examination. | |
| chromosomal deletion | An incomplete chromosome. | SO:1000029 |
| insertion | The sequence of one or more nucleotides added between two adjacent nucleotides in the sequence. | SO:0000667 |
| chromosomal inversion | An interchromosomal mutation where a region of the chromosome is inverted with respect to wild type. | SO:1000030 |
| Robertsonian fusion | A non reciprocal translocation whereby the participating chromosomes break at their centromeres and the long arms fuse to form a single chromosome with a single centromere. | SO:1000043 |
| reciprocal chromosomal translocation | A chromosomal translocation with two breaks; two chromosome segments have simply been exchanged. | SO:1000048 |
| chromosomal translocation | An interchromosomal mutation. Rearrangements that alter the pairing of telomeres are classified as translocations. | SO:1000044 |
| chromosomal duplication | An extra chromosome. | SO:1000037 |
| chromosomal transposition | A chromosome structure variant whereby a region of a chromosome has been transferred to another position. Among interchromosomal rearrangements, the term transposition is reserved for that class in which the telomeres of the chromosomes involved are coupled (that is to say, form the two ends of a single DNA molecule) as in wild-type. | SO:0000453 |
| unclassified cytogenetic marker | A cytogenetic marker not classifiable within current cytogenetic subcategories. | |
| BAC/YAC end | A region of sequence from the end of a BAC or YAC clone used as a reagent in mapping and genome assembly. | |
| A region of the genome associated with biological interest (includes regulatory regions, conserved regions and related sequences, repetitive sequences, and viral integrations). | ||
| DNA segment | A region of the genome associated with experimental interest, often used as a reagent for genetic mapping. Includes RFLP and other hybridization probes, sequence-tagged sites (STS), and regions defined by PCR primer pairs such as microsatellite markers). | |
| pseudogenic region | A non-functional descendant of a functional entity. | SO:0000462 |
| pseudogene | A sequence that closely resembles a known functional gene, at another locus within the genome, that is non-functional a consequence of (usually several) mutations that prevent either its transcription or translation (or both). In general, pseudogenes result from either reverse transcription of a transcript of their normal paralog, in which case the pseudogene typically lacks introns and includes a poly(A) tail, or from recombination, in which case the pseudogene is typically a tandem duplication of its normal paralog. | SO:0000336 |
| pseudogenic gene segment | A recombinational unit of a gene which when incorporated by somatic recombination in the final gene transcript results in a nonfunctional product. | SO:0001741 |
| polymorphic pseudogene | Pseudogene owing to a SNP/DIP but in other individuals/haplotypes/strains the gene is translated. |