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Search results 1501 to 1600 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:0001565 | gene_fusion
Description: A sequence variant whereby a two genes have become joined.
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SO Term
SO:0001882 | feature_fusion
Description: A sequence variant, caused by an alteration of the genomic sequence, where a deletion fuses genomic features.
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SO Term
SO:0001566 | regulatory_region_variant
Description: A sequence variant located within a regulatory region.
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SO Term
SO:0001590 | terminator_codon_variant
Description: A sequence variant whereby at least one of the bases in the terminator codon is changed.
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SO Term
SO:0001567 | stop_retained_variant
Description: A sequence variant where at least one base in the terminator codon is changed, but the terminator remains.
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SO Term
SO:0001819 | synonymous_variant
Description: A sequence variant where there is no resulting change to the encoded amino acid.
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SO Term
SO:0001576 | transcript_variant
Description: A sequence variant that changes the structure of the transcript.
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SO Term
SO:0001968 | coding_transcript_variant
Description: A transcript variant of a protein coding gene.
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SO Term
SO:0001791 | exon_variant
Description: A sequence variant that changes exon sequence.
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SO Term
SO:0001580 | coding_sequence_variant
Description: A sequence variant that changes the coding sequence.
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SO Term
SO:0001568 | splicing_variant
Description: A sequence variant that changes the process of splicing.
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SO Term
SO:0001569 | cryptic_splice_site_variant
Description: A sequence variant causing a new (functional) splice site.
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SO Term
SO:0001570 | cryptic_splice_acceptor
Description: A sequence variant whereby a new splice site is created due to the activation of a new acceptor.
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SO Term
SO:0001571 | cryptic_splice_donor
Description: A sequence variant whereby a new splice site is created due to the activation of a new donor.
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SO Term
SO:0001572 | exon_loss_variant
Description: A sequence variant whereby an exon is lost from the transcript.
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SO Term
SO:0001573 | intron_gain_variant
Description: A sequence variant whereby an intron is gained by the processed transcript; usually a result of an alteration of the donor or acceptor.
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SO Term
SO:0001629 | splice_site_variant
Description: A sequence variant that changes the first two or last two bases of an intron, or the 5th base from the start of the intron in the orientation of the transcript.
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SO Term
SO:0001574 | splice_acceptor_variant
Description: A splice variant that changes the 2 base region at the 3' end of an intron.
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SO Term
SO:0001627 | intron_variant
Description: A transcript variant occurring within an intron.
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SO Term
SO:0001575 | splice_donor_variant
Description: A splice variant that changes the 2 base pair region at the 5' end of an intron.
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SO Term
SO:0001577 | complex_transcript_variant
Description: A transcript variant with a complex INDEL- Insertion or deletion that spans an exon/intron border or a coding sequence/UTR border.
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SO Term
SO:0001907 | feature_elongation
Description: A sequence variant that causes the extension of a genomic feature, with regard to the reference sequence.
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SO Term
SO:0001578 | stop_lost
Description: A sequence variant where at least one base of the terminator codon (stop) is changed, resulting in an elongated transcript.
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SO Term
SO:0001992 | nonsynonymous_variant
Description: A non-synonymous variant is an inframe, protein altering variant, resulting in a codon change.
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SO Term
SO:0001650 | inframe_variant
Description: A sequence variant which does not cause a disruption of the translational reading frame.
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SO Term
SO:0001818 | protein_altering_variant
Description: A sequence_variant which is predicted to change the protein encoded in the coding sequence.
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SO Term
SO:0001582 | initiator_codon_variant
Description: A codon variant that changes at least one base of the first codon of a transcript.
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SO Term
SO:0001583 | missense_variant
Description: A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved.
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SO Term
SO:0001585 | conservative_missense_variant
Description: A sequence variant whereby at least one base of a codon is changed resulting in a codon that encodes for a different but similar amino acid. These variants may or may not be deleterious.
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SO Term
SO:0001586 | non_conservative_missense_variant
Description: A sequence variant whereby at least one base of a codon is changed resulting in a codon that encodes for an amino acid with different biochemical properties.
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SO Term
SO:0001906 | feature_truncation
Description: A sequence variant that causes the reduction of a genomic feature, with regard to the reference sequence.
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SO Term
SO:0001587 | stop_gained
Description: A sequence variant whereby at least one base of a codon is changed, resulting in a premature stop codon, leading to a shortened polypeptide.
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SO Term
SO:0001589 | frameshift_variant
Description: A sequence variant which causes a disruption of the translational reading frame, because the number of nucleotides inserted or deleted is not a multiple of three.
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SO Term
SO:0001591 | frame_restoring_variant
Description: A sequence variant that reverts the sequence of a previous frameshift mutation back to the initial frame.
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SO Term
SO:0001592 | minus_1_frameshift_variant
Description: A sequence variant which causes a disruption of the translational reading frame, by shifting one base ahead.
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SO Term
SO:0001593 | minus_2_frameshift_variant
Description: A sequence variant which causes a disruption of the translational reading frame, by shifting two bases forward.
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SO Term
SO:0001594 | plus_1_frameshift_variant
Description: A sequence variant which causes a disruption of the translational reading frame, by shifting one base backward.
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SO Term
SO:0001595 | plus_2_frameshift_variant
Description: A sequence variant which causes a disruption of the translational reading frame, by shifting two bases backward.
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SO Term
SO:0001596 | transcript_secondary_structure_variant
Description: A sequence variant within a transcript that changes the secondary structure of the RNA product.
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SO Term
SO:0001597 | compensatory_transcript_secondary_structure_variant
Description: A secondary structure variant that compensate for the change made by a previous variant.
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SO Term
SO:0001598 | translational_product_structure_variant
Description: A sequence variant within the transcript that changes the structure of the translational product.
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SO Term
SO:0001599 | 3D_polypeptide_structure_variant
Description: A sequence variant that changes the resulting polypeptide structure.
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SO Term
SO:0001600 | complex_3D_structural_variant
Description: A sequence variant that changes the resulting polypeptide structure.
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SO Term
SO:0001601 | conformational_change_variant
Description: A sequence variant in the CDS region that causes a conformational change in the resulting polypeptide sequence.
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SO Term
SO:0001602 | complex_change_of_translational_product_variant
Description: A variant that changes the translational product with respect to the reference.
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SO Term
SO:0001603 | polypeptide_sequence_variant
Description: A sequence variant with in the CDS that causes a change in the resulting polypeptide sequence.
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SO Term
SO:0001604 | amino_acid_deletion
Description: A sequence variant within a CDS resulting in the loss of an amino acid from the resulting polypeptide.
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SO Term
SO:0001605 | amino_acid_insertion
Description: A sequence variant within a CDS resulting in the gain of an amino acid to the resulting polypeptide.
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SO Term
SO:0001606 | amino_acid_substitution
Description: A sequence variant of a codon resulting in the substitution of one amino acid for another in the resulting polypeptide.
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SO Term
SO:0001607 | conservative_amino_acid_substitution
Description: A sequence variant of a codon causing the substitution of a similar amino acid for another in the resulting polypeptide.
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SO Term
SO:0001608 | non_conservative_amino_acid_substitution
Description: A sequence variant of a codon causing the substitution of a non conservative amino acid for another in the resulting polypeptide.
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SO Term
SO:0001609 | elongated_polypeptide
Description: An elongation of a polypeptide sequence deriving from a sequence variant extending the CDS.
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SO Term
SO:0001610 | elongated_polypeptide_C_terminal
Description: An elongation of a polypeptide sequence at the C terminus deriving from a sequence variant extending the CDS.
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SO Term
SO:0002229 | CDS_three_prime_extension
Description: A sequence variant extending the CDS at the 3' end, that causes elongation of the resulting polypeptide sequence at the C terminus.
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SO Term
SO:0002227 | CDS_extension
Description: A sequence variant extending the CDS, that causes elongation of the resulting polypeptide sequence.
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SO Term
SO:0002228 | CDS_five_prime_extension
Description: A sequence variant extending the CDS at the 5' end, that causes elongation of the resulting polypeptide sequence at the N terminus.
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SO Term
SO:0001611 | elongated_polypeptide_N_terminal
Description: An elongation of a polypeptide sequence at the N terminus deriving from a sequence variant extending the CDS.
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SO Term
SO:0001612 | elongated_in_frame_polypeptide_C_terminal
Description: A sequence variant with in the CDS that causes in frame elongation of the resulting polypeptide sequence at the C terminus.
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SO Term
SO:0001613 | elongated_out_of_frame_polypeptide_C_terminal
Description: A sequence variant with in the CDS that causes out of frame elongation of the resulting polypeptide sequence at the C terminus.
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SO Term
SO:0001614 | elongated_in_frame_polypeptide_N_terminal_elongation
Description: A sequence variant with in the CDS that causes in frame elongation of the resulting polypeptide sequence at the N terminus.
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SO Term
SO:0001615 | elongated_out_of_frame_polypeptide_N_terminal
Description: A sequence variant with in the CDS that causes out of frame elongation of the resulting polypeptide sequence at the N terminus.
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SO Term
SO:0001616 | polypeptide_fusion
Description: A sequence variant that causes a fusion of two polypeptide sequences.
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SO Term
SO:0001617 | polypeptide_truncation
Description: A sequence variant of the CD that causes a truncation of the resulting polypeptide.
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SO Term
SO:0001618 | inactive_catalytic_site
Description: A sequence variant that causes the inactivation of a catalytic site with respect to a reference sequence.
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SO Term
SO:0001619 | non_coding_transcript_variant
Description: A transcript variant of a non coding RNA gene.
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SO Term
SO:0001620 | mature_miRNA_variant
Description: A transcript variant located with the sequence of the mature miRNA.
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SO Term
SO:0001621 | NMD_transcript_variant
Description: A variant in a transcript that is the target of nonsense-mediated mRNA decay.
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SO Term
SO:0001622 | UTR_variant
Description: A transcript variant that is located within the UTR.
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SO Term
SO:0001623 | 5_prime_UTR_variant
Description: A UTR variant of the 5' UTR.
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SO Term
SO:0001624 | 3_prime_UTR_variant
Description: A UTR variant of the 3' UTR.
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SO Term
SO:0001626 | incomplete_terminal_codon_variant
Description: A sequence variant where at least one base of the final codon of an incompletely annotated transcript is changed.
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SO Term
SO:0001628 | intergenic_variant
Description: A sequence variant located in the intergenic region, between genes.
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SO Term
SO:0001630 | splice_region_variant
Description: A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron.
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SO Term
SO:0001631 | upstream_gene_variant
Description: A sequence variant located 5' of a gene.
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SO Term
SO:0001632 | downstream_gene_variant
Description: A sequence variant located 3' of a gene.
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SO Term
SO:0001633 | 5KB_downstream_variant
Description: A sequence variant located within 5 KB of the end of a gene.
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SO Term
SO:0001634 | 500B_downstream_variant
Description: A sequence variant located within a half KB of the end of a gene.
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SO Term
SO:0001635 | 5KB_upstream_variant
Description: A sequence variant located within 5KB 5' of a gene.
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SO Term
SO:0001636 | 2KB_upstream_variant
Description: A sequence variant located within 2KB 5' of a gene.
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SO Term
SO:0001637 | rRNA_gene
Description: A gene that encodes for ribosomal RNA.
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SO Term
SO:0001638 | piRNA_gene
Description: A gene that encodes for an piwi associated RNA.
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SO Term
SO:0002180 | enzymatic_RNA_gene
Description: A gene that encodes an enzymatic RNA.
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SO Term
SO:0001639 | RNase_P_RNA_gene
Description: A gene that encodes an RNase P RNA.
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SO Term
SO:0001640 | RNase_MRP_RNA_gene
Description: A gene that encodes a RNase_MRP_RNA.
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SO Term
SO:0002127 | lncRNA_gene
Description: A gene that encodes a long non-coding RNA.
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SO Term
SO:0001641 | lincRNA_gene
Description: A gene that encodes a long, intervening non-coding RNA.
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SO Term
SO:0001642 | mathematically_defined_repeat
Description: A mathematically defined repeat (MDR) is a experimental feature that is determined by querying overlapping oligomers of length k against a database of shotgun sequence data and identifying regions in the query sequence that exceed a statistically determined threshold of repetitiveness.
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SO Term
SO:0001643 | telomerase_RNA_gene
Description: A telomerase RNA gene is a non coding RNA gene the RNA product of which is a component of telomerase.
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SO Term
SO:0001644 | targeting_vector
Description: An engineered vector that is able to take part in homologous recombination in a host with the intent of introducing site specific genomic modifications.
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SO Term
SO:0001646 | DArT_marker
Description: A genetic marker, discovered using Diversity Arrays Technology (DArT) technology.
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SO Term
SO:0001647 | kozak_sequence
Description: A kind of ribosome entry site, specific to Eukaryotic organisms that overlaps part of both 5' UTR and CDS sequence.
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SO Term
SO:0001653 | retinoic_acid_responsive_element
Description: A transcription factor binding site of variable direct repeats of the sequence PuGGTCA spaced by five nucleotides (DR5) found in the promoters of retinoic acid-responsive genes, to which retinoic acid receptors bind.
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SO Term
SO:0001658 | nested_tandem_repeat
Description: An NTR is a nested repeat of two distinct tandem motifs interspersed with each other.
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SO Term
SO:0001661 | RNA_polymerase_II_TATA_box
Description: A TATA box core promoter of a gene transcribed by RNA polymerase II.
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SO Term
SO:0001662 | RNA_polymerase_III_TATA_box
Description: A TATA box core promoter of a gene transcribed by RNA polymerase III.
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SO Term
SO:0001663 | BREd_motif
Description: A core RNA polymerase II promoter element with consensus (G/A)T(T/G/A)(T/A)(G/T)(T/G)(T/G).
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SO Term
SO:0001664 | DCE
Description: A discontinuous core element of RNA polymerase II transcribed genes, situated downstream of the TSS. It is composed of three sub elements: SI, SII and SIII.
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SO Term
SO:0001665 | DCE_SI
Description: A sub element of the DCE core promoter element, with consensus sequence CTTC.
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SO Term
SO:0001666 | DCE_SII
Description: A sub element of the DCE core promoter element with consensus sequence CTGT.
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SO Term
SO:0001667 | DCE_SIII
Description: A sub element of the DCE core promoter element with consensus sequence AGC.
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