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Search results 2001 to 2100 out of 2386 for *

Category restricted to SOTerm (x)

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Categories

Category: SOTerm
Type Details Score
SO Term
Description: A UTR variant of intronic sequence of the 3' UTR.
SO Term
Description: A UTR variant of intronic sequence of the 5' UTR.
SO Term
Description: A UTR variant of exonic sequence of the 5' UTR.
SO Term
Description: A variant that impacts the internal interactions of the resulting polypeptide structure.
SO Term
Description: A genomic region at a non-allelic position where exchange of genetic material happens as a result of homologous recombination.
SO Term
Description: A ncRNA, specific to the Cajal body, that has been demonstrated to function as a guide RNA in the site-specific synthesis of 2'-O-ribose-methylated nucleotides and pseudouridines in the RNA polymerase II-transcribed U1, U2, U4 and U5 spliceosomal small nuclear RNAs (snRNAs).
SO Term
Description: A variation that expands or contracts a tandem repeat with regard to a reference.
SO Term
Description: A pseudogene derived from a vertebrate immune system gene.
SO Term
Description: A pseudogene derived from an immunoglobulin gene.
SO Term
Description: A pseudogene derived from a T-cell receptor gene.
SO Term
Description: A pseudogenic constant region of an immunoglobulin gene which closely resembles a known functional Imunoglobulin constant gene but in which the coding region has stop codons, frameshift mutations or a mutation that effects the initiation codon.
SO Term
Description: A pseudogenic joining region which closely resembles a known functional imunoglobulin joining gene but in which the coding region has stop codons, frameshift mutations or a mutation that effects the initiation codon that rearranges at the DNA level and codes the joining region of the variable domain of an immunoglobulin chain.
SO Term
Description: A pseudogenic variable region which closely resembles a known functional imunoglobulin variable gene but in which the coding region has stop codons, frameshift mutations or a mutation that effects the initiation codon that rearranges at the DNA level and codes the variable region of an immunoglobulin chain.
SO Term
Description: A pseudogenic variable region which closely resembles a known functional T receptor variable gene but in which the coding region has stop codons, frameshift mutations or a mutation that effects the initiation codon that rearranges at the DNA level and codes the variable region of an immunoglobulin chain.
SO Term
Description: A pseudogenic joining region which closely resembles a known functional T receptor (TR) joining gene but in which the coding region has stop codons, frameshift mutations or a mutation that effects the initiation codon that rearranges at the DNA level and codes the joining region of the variable domain of an immunoglobulin chain.
SO Term
Description: A processed pseudogene where there is evidence, (mass spec data) suggesting that it is also translated.
SO Term
Description: A non-processed pseudogene where there is evidence, (mass spec data) suggesting that it is also translated.
SO Term
Description: A unprocessed pseudogene supported by locus-specific evidence of transcription.
SO Term
Description: A species specific unprocessed pseudogene without a parent gene, as it has an active orthologue in another species.
SO Term
Description: A processed_pseudogene overlapped by locus-specific evidence of transcription.
SO Term
Description: A polymorphic pseudogene in the reference genome, containing a retained intron, known to be intact in the genomes of other individuals of the same species. The annotation process has confirmed that the pseudogenisation event is not a genomic sequencing error.
SO Term
Description: A processed_transcript supported by EST and/or mRNA evidence that aligns unambiguously to a pseudogene locus (i.e. alignment to the pseudogene locus clearly better than alignment to parent locus).
SO Term
Description: A protein coding transcript containing a retained intron.
SO Term
Description: A lncRNA transcript containing a retained intron.
SO Term
Description: A protein coding transcript that contains a CDS but has one or more splice junctions >50bp downstream of stop codon, making it susceptible to nonsense mediated decay.
SO Term
Description: A transcript supported by EST and/or mRNA evidence that aligns unambiguously to the pseudogene locus; has retained intronic sequence compared to a reference transcript sequence.
SO Term
Description: A processed transcript that does not contain a CDS that fullfills annotation criteria and not necessarily functionally non-coding.
SO Term
Description: A polymorphic pseudogene transcript that contains a CDS but has one or more splice junctions >50bp downstream of stop codon. Premature stop codon is not introduced, directly or indirectly, as a result of the variation i.e. must be present in both protein_coding and pseudogenic alleles.
SO Term
Description: A physical quality which inheres to the allele by virtue of the number instances of the allele within a population. This is the relative frequency of the allele at a given locus in a population.
SO Term
Description: Transcript where ditag (digital gene expression profiling)and/or published experimental data strongly supports the existence of short non-coding transcripts transcribed from the 3'UTR.
SO Term
Description: The configuration of the IG and TR variable (V), diversity (D) and joining (J) germline genes before DNA rearrangements (with or without constant (C) genes in undefined configuration. (germline, non rearranged regions of the IG DNA loci).
SO Term
Description: A germline immunoglobulin gene.
SO Term
Description: A constant (C) gene, a gene that codes the constant region of an immunoglobulin chain.
SO Term
Description: A gene that rearranges at the DNA level and codes the diversity region of the variable domain of an immunoglobuin (IG) gene.
SO Term
Description: A joining gene that rearranges at the DNA level and codes the joining region of the variable domain of an immunoglobulin chain.
SO Term
Description: A variable gene that rearranges at the DNA level and codes the variable region of the variable domain of an Immunoglobulin chain.
SO Term
Description: Mitochondrial rRNA is an RNA component of the small or large subunits of mitochondrial ribosomes.
SO Term
Description: Mitochondrial transfer RNA.
SO Term
Description: A transcript that contains a CDS but has no stop codon before the polyA site is reached.
SO Term
Description: A long non-coding transcript found within an intron of a coding or non-coding gene, with no overlap of exonic sequence.
SO Term
Description: A long non-coding transcript that contains a protein coding gene within its intronic sequence on the same strand, with no overlap of exonic sequence.
SO Term
Description: A T-cell receptor germline gene.
SO Term
Description: A constant (C) gene, a gene that codes the constant region of a T-cell receptor chain.
SO Term
Description: A gene that rearranges at the DNA level and codes the diversity region of the variable domain of aT-cell receptor gene.
SO Term
Description: A joining gene that rearranges at the DNA level and codes the joining region of the variable domain of aT-cell receptor chain.
SO Term
Description: A variable gene that rearranges at the DNA level and codes the variable region of the variable domain of aT-cell receptor chain.
SO Term
Description: A transcript feature that has been predicted but is not yet validated.
SO Term
Description: This is used for non-spliced EST clusters that have polyA features. This category has been specifically created for the ENCODE project to highlight regions that could indicate the presence of protein coding genes that require experimental validation, either by 5' RACE or RT-PCR to extend the transcripts, or by confirming expression of the putatively-encoded peptide with specific antibodies.
SO Term
Description: An origin of replication that initiates early in S phase.
SO Term
Description: An origin of replication that initiates late in S phase.
SO Term
Description: A histone 2AZ modification where the modification is the acetylation of the residue.
SO Term
Description: A kind of histone modification site, whereby the 4th residue (a lysine), from the start of the H2AZ histone protein is acetylated.
SO Term
Description: A kind of histone modification site, whereby the 7th residue (a lysine), from the start of the H2AZ histone protein is acetylated.
SO Term
Description: A kind of histone modification site, whereby the 11th residue (a lysine), from the start of the H2AZ histone protein is acetylated.
SO Term
Description: A kind of histone modification site, whereby the 13th residue (a lysine), from the start of the H2AZ histone protein is acetylated.
SO Term
Description: A kind of histone modification site, whereby the 15th residue (a lysine), from the start of the H2AZ histone protein is acetylated.
SO Term
Description: A uORF beginning with the canonical start codon AUG.
SO Term
Description: A uORF beginning with a codon other than AUG.
SO Term
Description: A variant that falls downstream of a transcript, but within the genic region of the gene due to alternately transcribed isoforms.
SO Term
Description: A variant that falls upstream of a transcript, but within the genic region of the gene due to alternately transcribed isoforms.
SO Term
Description: A genomic region where there is an exchange of genetic material with another genomic region, occurring in somatic cells.
SO Term
Description: A genomic region in which there is an exchange of genetic material as a result of the repair of meiosis-specific double strand breaks that occur during meiotic prophase.
SO Term
Description: A promoter element bound by the MADS family of transcription factors with consensus 5'-(C/T)TA(T/A)4TA(G/A)-3'.
SO Term
Description: A gene cassette array containing H+ mating type specific information.
SO Term
Description: A gene cassette array containing H- mating type specific information.
SO Term
Description: A conserved Cdc48/p97 interaction motif with strict consensus sequence F[PI]GKG[TK][RK]LG[GT] and relaxed consensus sequence FXGKGX[RK]LG.
SO Term
Description: A sequence variant where the copies of a short tandem repeat (STR) feature are either contracted or expanded.
SO Term
Description: A short tandem repeat variant containing more repeat units than the reference sequence.
SO Term
Description: A short tandem repeat variant containing fewer repeat units than the reference sequence.
SO Term
Description: A kind of histone modification site, whereby the 5th residue (a lysine), from the start of the H2B histone protein is acetylated.
SO Term
Description: A short tandem repeat expansion with an increase in a sequence of three nucleotide units repeated in tandem compared to a reference sequence.
SO Term
Description: A ref_miRNA (RefSeq-miRNA) sequence is assigned at the creation of a new mature miRNA entry in a database. The ref_miRNA sequence designation remains unchanged even if a different isomiR is later shown to be expressed at a higher level. A ref_miRNA can be produced by one or multiple pre-miRNA.
SO Term
Description: IsomiRs are all the bona fide variants of a mature product. IsomiRs should be connected to the ref_miRNA it is most likely to be the variant of. Some isomiRs can be variations of one or multiple ref_miRNA.
SO Term
Description: An RNA_thermometer is a cis element in the 5' end of an mRNA that can change its secondary structure in response to temperature and coordinate temperature-dependent gene expression.
SO Term
Description: A sequence variant that falls in the polypyrimidine tract at 3' end of intron between 17 and 3 bases from the end (acceptor -3 to acceptor -17).
SO Term
Description: A sequence variant that falls in the region between the 3rd and 6th base after splice junction (5' end of intron).
SO Term
Description: A telomeric D-loop is a three-stranded DNA displacement loop that forms at the site where the telomeric 3' single-stranded DNA overhang (formed of the repeat sequence TTAGGG in mammals) is tucked back inside the double-stranded component of telomeric DNA molecule, thus forming a t-loop or telomeric-loop and protecting the chromosome terminus.
SO Term
Description: A sequence_alteration where the source of the alteration is due to an artifact in the base-calling or assembly process.
SO Term
Description: An indel that is the result of base-calling or assembly error.
SO Term
Description: A deletion that is the result of base-calling or assembly error.
SO Term
Description: An insertion that is the result of base-calling or assembly error.
SO Term
Description: A substitution that is the result of base-calling or assembly error.
SO Term
Description: A duplication that is the result of base-calling or assembly error.
SO Term
Description: An SNV that is the result of base-calling or assembly error.
SO Term
Description: An MNV that is the result of base-calling or assembly error.
SO Term
Description: A gene that encodes a ribozyme.
SO Term
Description: A gene that encodes an antisense long, non-coding RNA.
SO Term
Description: A gene that encodes a sense overlap long non-coding RNA.
SO Term
Description: A gene that encodes a sense intronic long non-coding RNA.
SO Term
Description: A non-coding locus that originates from within the promoter region of a protein-coding gene, with transcription proceeding in the opposite direction on the other strand.
SO Term
Description: A region of genomic sequence known to undergo mutational events with greater frequency than expected by chance.
SO Term
Description: An insertion of sequence from the HERV family of mobile elements with respect to a reference.
SO Term
Description: A gene_member_region that encodes sequence that directly contributes to the molecular function of its gene or gene product.
SO Term
Description: A (unitary) pseudogene that is stable in the population but importantly it has a functional alternative allele also in the population. i.e., one strain may have the gene, another strain may have the pseudogene. MHC haplotypes have allelic pseudogenes.
SO Term
Description: A transcriptional cis regulatory region that when located between an enhancer and a gene's promoter prevents the enhancer from modulating the expression of the gene. Sometimes referred to as an insulator but may not include the barrier function of an insulator.
SO Term
Description: A regulatory region that controls epigenetic imprinting and affects the expression of target genes in an allele- or parent-of-origin-specific manner. Associated regulatory elements may include differentially methylated regions and non-coding RNAs.
SO Term
Description: A repeat lying outside the sequence for which it has functional significance (eg. transposon insertion target sites).
SO Term
Description: The pseudogene has arisen by reverse transcription of a mRNA into cDNA, followed by reintegration into the genome. Therefore, it has lost any intron/exon structure, and it might have a pseudo-polyA-tail.
SO Term
Description: The pseudogene has arisen from a copy of the parent gene by duplication followed by accumulation of random mutation. The changes, compared to their functional homolog, include insertions, deletions, premature stop codons, frameshifts and a higher proportion of non-synonymous versus synonymous substitutions.
SO Term
Description: The pseudogene has no parent. It is the original gene, which is functional in some species but disrupted in some way (indels, mutation, recombination) in another species or strain.
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