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Search results 1701 to 1800 out of 2386 for *

Category restricted to SOTerm (x)

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Categories

Category: SOTerm
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Type Details Score
SO Term
SO:0001771 | disease_associated_variant
Description: A variant that has been found to be associated with disease.
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SO Term
SO:0001772 | disease_causing_variant
Description: A variant that has been found to cause disease.
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SO Term
SO:0001773 | lethal_variant
Description: A sequence variant where the mutated gene product does not allow for one or more basic functions necessary for survival.
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SO Term
SO:0001774 | quantitative_variant
Description: A variant within a gene that contributes to a quantitative trait such as height or weight.
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SO Term
SO:0001775 | maternal_variant
Description: A variant in the genetic material inherited from the mother.
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SO Term
SO:0001776 | paternal_variant
Description: A variant in the genetic material inherited from the father.
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SO Term
SO:0001777 | somatic_variant
Description: A variant that has arisen after splitting of the embryo, resulting in the variant being found in only some of the tissues or cells of the body.
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SO Term
SO:0001778 | germline_variant
Description: A variant present in the embryo that is carried by every cell in the body.
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SO Term
SO:0001779 | pedigree_specific_variant
Description: A variant that is found only by individuals that belong to the same pedigree.
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SO Term
SO:0001780 | population_specific_variant
Description: A variant found within only speficic populations.
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SO Term
SO:0001781 | de_novo_variant
Description: A variant arising in the offspring that is not found in either of the parents.
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SO Term
SO:0001782 | TF_binding_site_variant
Description: A sequence variant located within a transcription factor binding site.
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SO Term
SO:0001784 | complex_structural_alteration
Description: A structural sequence alteration or rearrangement encompassing one or more genome fragments, with 4 or more breakpoints.
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SO Term
SO:0001786 | loss_of_heterozygosity
Description: A functional variant whereby the sequence alteration causes a loss of function of one allele of a gene.
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SO Term
SO:0001787 | splice_donor_5th_base_variant
Description: A sequence variant that causes a change at the 5th base pair after the start of the intron in the orientation of the transcript.
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SO Term
SO:0001788 | U_box
Description: An U-box is a conserved T-rich region upstream of a retroviral polypurine tract that is involved in PPT primer creation during reverse transcription.
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SO Term
SO:0001789 | mating_type_region
Description: A specialized region in the genomes of some yeast and fungi, the genes of which regulate mating type.
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SO Term
SO:0001792 | non_coding_transcript_exon_variant
Description: A sequence variant that changes non-coding exon sequence in a non-coding transcript.
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SO Term
SO:0001793 | clone_end
Description: A read from an end of the clone sequence.
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SO Term
SO:0001795 | regional_centromere
Description: A regional centromere is a large modular centromere found in fission yeast and higher eukaryotes. It consist of a central core region flanked by inverted inner and outer repeat regions.
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SO Term
SO:0001796 | regional_centromere_central_core
Description: A conserved region within the central region of a modular centromere, where the kinetochore is formed.
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SO Term
SO:0001797 | centromeric_repeat
Description: A repeat region found within the modular centromere.
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SO Term
SO:0001798 | regional_centromere_inner_repeat_region
Description: The inner inverted repeat region of a modular centromere and part of the central core surrounding a non-conserved central region. This region is adjacent to the central core, on each chromosome arm.
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SO Term
SO:0001799 | regional_centromere_outer_repeat_region
Description: The heterochromatic outer repeat region of a modular centromere. These repeats exist in tandem arrays on both chromosome arms.
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SO Term
SO:0001800 | tasiRNA
Description: The sequence of a 21 nucleotide double stranded, polyadenylated non coding RNA, transcribed from the TAS gene.
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SO Term
SO:0001801 | tasiRNA_primary_transcript
Description: A primary transcript encoding a tasiRNA.
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SO Term
SO:0001802 | increased_polyadenylation_variant
Description: A transcript processing variant whereby polyadenylation of the encoded transcript is increased with respect to the reference.
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SO Term
SO:0001803 | decreased_polyadenylation_variant
Description: A transcript processing variant whereby polyadenylation of the encoded transcript is decreased with respect to the reference.
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SO Term
SO:0001804 | DDB_box
Description: A conserved polypeptide motif that mediates protein-protein interaction and defines adaptor proteins for DDB1/cullin 4 ubiquitin ligases.
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SO Term
SO:0100017 | polypeptide_conserved_motif
Description: A conserved motif is a short (up to 20 amino acids) region of biological interest that is conserved in different proteins. They may or may not have functional or structural significance within the proteins in which they are found.
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SO Term
SO:0001805 | destruction_box
Description: A conserved polypeptide motif that can be recognized by both Fizzy/Cdc20- and FZR/Cdh1-activated anaphase-promoting complex/cyclosome (APC/C) and targets a protein for ubiquitination and subsequent degradation by the APC/C. The consensus sequence is RXXLXXXXN.
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SO Term
SO:0001806 | ER_retention_signal
Description: A C-terminal tetrapeptide motif that mediates retention of a protein in (or retrieval to) the endoplasmic reticulum. In mammals the sequence is KDEL, and in fungi HDEL or DDEL.
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SO Term
SO:0001807 | KEN_box
Description: A conserved polypeptide motif that can be recognized by FZR/Cdh1-activated anaphase-promoting complex/cyclosome (APC/C) and targets a protein for ubiquitination and subsequent degradation by the APC/C. The consensus sequence is KENXXXN.
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SO Term
SO:0001808 | mitochondrial_targeting_signal
Description: A polypeptide region that targets a polypeptide to the mitochondrion.
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SO Term
SO:0001809 | signal_anchor
Description: A signal sequence that is not cleaved from the polypeptide. Anchors a Type II membrane protein to the membrane.
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SO Term
SO:0001810 | PIP_box
Description: A polypeptide region that mediates binding to PCNA. The consensus sequence is QXX(hh)XX(aa), where (h) denotes residues with moderately hydrophobic side chains and (a) denotes residues with highly hydrophobic aromatic side chains.
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SO Term
SO:0001811 | phosphorylation_site
Description: A post-translationally modified region in which residues of the protein are modified by phosphorylation.
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SO Term
SO:0001812 | transmembrane_helix
Description: A region that traverses the lipid bilayer and adopts a helical secondary structure.
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SO Term
SO:0001813 | vacuolar_sorting_signal
Description: A polypeptide region that targets a polypeptide to the vacuole.
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SO Term
SO:0001814 | coding_variant_quality
Description: An attribute of a coding genomic variant.
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SO Term
SO:0001815 | synonymous
Description: A variant that does not lead to any change in the amino acid sequence.
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SO Term
SO:0001816 | non_synonymous
Description: A variant that leads to the change of an amino acid within the protein.
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SO Term
SO:0001817 | inframe
Description: An attribute describing a sequence that contains a mutation involving the deletion or insertion of one or more bases, where this number is divisible by 3.
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SO Term
SO:0001820 | inframe_indel
Description: A coding sequence variant where the change does not alter the frame of the transcript.
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SO Term
SO:0001821 | inframe_insertion
Description: An inframe non synonymous variant that inserts bases into in the coding sequence.
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SO Term
SO:0001908 | internal_feature_elongation
Description: A sequence variant that causes the extension of a genomic feature from within the feature rather than from the terminus of the feature, with regard to the reference sequence.
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SO Term
SO:0001822 | inframe_deletion
Description: An inframe non synonymous variant that deletes bases from the coding sequence.
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SO Term
SO:0001823 | conservative_inframe_insertion
Description: An inframe increase in cds length that inserts one or more codons into the coding sequence between existing codons.
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SO Term
SO:0001824 | disruptive_inframe_insertion
Description: An inframe increase in cds length that inserts one or more codons into the coding sequence within an existing codon.
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SO Term
SO:0001825 | conservative_inframe_deletion
Description: An inframe decrease in cds length that deletes one or more entire codons from the coding sequence but does not change any remaining codons.
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SO Term
SO:0001826 | disruptive_inframe_deletion
Description: An inframe decrease in cds length that deletes bases from the coding sequence starting within an existing codon.
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SO Term
SO:0001827 | mRNA_read
Description: A sequencer read of an mRNA substrate.
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SO Term
SO:0001828 | genomic_DNA_read
Description: A sequencer read of a genomic DNA substrate.
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SO Term
SO:0001829 | mRNA_contig
Description: A contig composed of mRNA_reads.
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SO Term
SO:0001830 | AFLP_fragment
Description: A PCR product obtained by applying the AFLP technique, based on a restriction enzyme digestion of genomic DNA and an amplification of the resulting fragments.
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SO Term
SO:0001831 | protein_hmm_match
Description: A match to a protein HMM such as pfam.
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SO Term
SO:0001832 | immunoglobulin_region
Description: A region of immunoglobulin sequence, either constant or variable.
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SO Term
SO:0001833 | V_region
Description: The variable region of an immunoglobulin polypeptide sequence.
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SO Term
SO:0001834 | C_region
Description: The constant region of an immunoglobulin polypeptide sequence.
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SO Term
SO:0001835 | N_region
Description: Extra nucleotides inserted between rearranged immunoglobulin segments.
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SO Term
SO:0001836 | S_region
Description: The switch region of immunoglobulin heavy chains; it is involved in the rearrangement of heavy chain DNA leading to the expression of a different immunoglobulin classes from the same B-cell.
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SO Term
SO:0001837 | mobile_element_insertion
Description: A kind of insertion where the inserted sequence is a mobile element.
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SO Term
SO:0001838 | novel_sequence_insertion
Description: An insertion the sequence of which cannot be mapped to the reference genome.
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SO Term
SO:0001839 | CSL_response_element
Description: A promoter element with consensus sequence GTGRGAA, bound by CSL (CBF1/RBP-JK/Suppressor of Hairless/LAG-1) transcription factors.
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SO Term
SO:0001840 | GATA_box
Description: A GATA transcription factor element containing the consensus sequence WGATAR (in which W indicates A/T and R indicates A/G).
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SO Term
SO:0001841 | polymorphic_pseudogene
Description: A pseudogene in the reference genome, though 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.
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SO Term
SO:0001842 | AP_1_binding_site
Description: A promoter element with consensus sequence TGACTCA, bound by AP-1 and related transcription factors.
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SO Term
SO:0001843 | CRE
Description: MERGED DEFINITION: TARGET DEFINITION: A promoter element with consensus sequence TGACGTCA; bound by the ATF/CREB family of transcription factors. -------------------- SOURCE DEFINITION: A promoter element that contains a core sequence TGACGT, bound by a protein complex that regulates transcription of genes encoding PKA pathway components.
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SO Term
SO:0001844 | CuRE
Description: A promoter element bound by copper ion-sensing transcription factors such as S. cerevisiae Mac1p or S. pombe Cuf1; the consensus sequence is HTHNNGCTGD (more specifically TTTGCKCR in budding yeast).
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SO Term
SO:0001845 | DRE
Description: A promoter element with consensus sequence CGWGGWNGMM, bound by transcription factors related to RecA and found in promoters of genes expressed following several types of DNA damage or inhibition of DNA synthesis.
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SO Term
SO:0001846 | FLEX_element
Description: A promoter element that has consensus sequence GTAAACAAACAAAM and contains a heptameric core GTAAACA, bound by transcription factors with a forkhead DNA-binding domain.
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SO Term
SO:0001847 | forkhead_motif
Description: A promoter element with consensus sequence TTTRTTTACA, bound by transcription factors with a forkhead DNA-binding domain.
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SO Term
SO:0001848 | homol_D_box
Description: A core promoter element that has the consensus sequence CAGTCACA (or its inverted form TGTGACTG), and plays the role of a TATA box in promoters that do not contain a canonical TATA sequence.
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SO Term
SO:0001849 | homol_E_box
Description: A core promoter element that has the consensus sequence ACCCTACCCT (or its inverted form AGGGTAGGGT), and is found near the homol D box in some promoters that use a homol D box instead of a canonical TATA sequence.
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SO Term
SO:0001850 | HSE
Description: A promoter element that consists of at least three copies of the pentanucleotide NGAAN, bound by the heat shock transcription factor HSF.
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SO Term
SO:0001851 | iron_repressed_GATA_element
Description: A GATA promoter element with consensus sequence WGATAA, found in promoters of genes repressed in the presence of iron.
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SO Term
SO:0001852 | mating_type_M_box
Description: A promoter element with consensus sequence ACAAT, found in promoters of mating type M-specific genes in fission yeast and bound by the transcription factor Mat1-Mc.
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SO Term
SO:0001853 | androgen_response_element
Description: A non-palindromic sequence found in the promoters of genes whose expression is regulated in response to androgen.
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SO Term
SO:0001854 | smFISH_probe
Description: A smFISH is a probe that binds RNA in a single molecule in situ hybridization experiment.
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SO Term
SO:0001855 | MCB
Description: A promoter element with consensus sequence ACGCGT, bound by the transcription factor complex MBF (MCB-binding factor) and found in promoters of genes expressed during the G1/S transition of the cell cycle.
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SO Term
SO:0001856 | CCAAT_motif
Description: A promoter element with consensus sequence CCAAT, bound by a protein complex that represses transcription in response to low iron levels.
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SO Term
SO:0001857 | Ace2_UAS
Description: A promoter element with consensus sequence CCAGCC, bound by the fungal transcription factor Ace2.
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SO Term
SO:0001858 | TR_box
Description: A promoter element with consensus sequence TTCTTTGTTY, bound an HMG-box transcription factor such as S. pombe Ste11, and found in promoters of genes up-regulated early in meiosis.
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SO Term
SO:0001859 | STREP_motif
Description: A promoter element with consensus sequence CCCCTC, bound by the PKA-responsive zinc finger transcription factor Rst2.
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SO Term
SO:0001860 | rDNA_intergenic_spacer_element
Description: A DNA motif that contains a core consensus sequence AGGTAAGGGTAATGCAC, is found in the intergenic regions of rDNA repeats, and is bound by an RNA polymerase I transcription termination factor (e.g. S. pombe Reb1). The S. pombe telomeric repeat consensus is TTAC(0-1)A(0-1)G(1-8).
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SO Term
SO:0001861 | sterol_regulatory_element
Description: A 10-bp promoter element bound by sterol regulatory element binding proteins (SREBPs), found in promoters of genes involved in sterol metabolism. Many variants of the sequence ATCACCCCAC function as SREs.
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SO Term
SO:0001862 | GT_dinucleotide_repeat
Description: A dinucleotide repeat region composed of GT repeating elements.
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SO Term
SO:0001863 | GTT_trinucleotide_repeat
Description: A trinucleotide repeat region composed of GTT repeating elements.
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SO Term
SO:0001864 | Sap1_recognition_motif
Description: A DNA motif to which the S. pombe Sap1 protein binds. The consensus sequence is 5'-TARGCAGNTNYAACGMG-3'; it is found at the mating type locus, where it is important for mating type switching, and at replication fork barriers in rDNA repeats.
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SO Term
SO:0001865 | CDRE_motif
Description: An RNA polymerase II promoter element found in the promoters of genes regulated by calcineurin. The consensus sequence is GNGGCKCA.
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SO Term
SO:0001866 | BAC_read_contig
Description: A contig of BAC reads.
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SO Term
SO:0001867 | candidate_gene
Description: A gene suspected of being involved in the expression of a trait.
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SO:0001868 | positional_candidate_gene
Description: A candidate gene whose association with a trait is based on the gene's location on a chromosome.
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SO Term
SO:0001869 | functional_candidate_gene
Description: A candidate gene whose function has something in common biologically with the trait under investigation.
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SO Term
SO:0001870 | enhancerRNA
Description: A short ncRNA that is transcribed from an enhancer. May have a regulatory function.
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SO Term
SO:0001871 | PCB
Description: A promoter element with consensus sequence GNAACR, bound by the transcription factor complex PBF (PCB-binding factor) and found in promoters of genes expressed during the M/G1 transition of the cell cycle.
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SO Term
SO:0001872 | rearrangement_region
Description: A region of a chromosome, where the chromosome has undergone a large structural rearrangement that altered the genome organization. There is no longer synteny to the reference genome.
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SO Term
SO:0001873 | interchromosomal_breakpoint
Description: A rearrangement breakpoint between two different chromosomes.
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SO Term
SO:0001874 | intrachromosomal_breakpoint
Description: A rearrangement breakpoint within the same chromosome.
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SO Term
SO:0001875 | unassigned_supercontig
Description: A supercontig that is not been assigned to any ultracontig during a genome assembly project.
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