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added FunctionConstraint to cat-vrs-source.yaml
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DanielPuthawala authored Dec 2, 2024
1 parent 1b5d7f8 commit 4a55fd9
Showing 1 changed file with 31 additions and 1 deletion.
32 changes: 31 additions & 1 deletion schema/cat-vrs/cat-vrs-source.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -207,4 +207,34 @@ $defs:
- EFO:0030071
- EFO:0030072
required:
- copyChange
- copyChange

FunctionConstraint:
maturity: trial use
inherits: Constraint
type: object
description: >-
A categorical label of the function change that members of this categorical variant satisfies.
properties:
type:
extends: type
const: FunctionConstraint
default: FunctionConstraint
description: 'MUST be "FunctionConstraint"'
functionConsequence:
description: >-
A categorical label of the function change that members of this categorical variant satisfies, using ontology terms from [The Sequence Ontology](http://www.sequenceontology.org). ``SO:0002052`` refers to a [dominant negative variant](http://www.sequenceontology.org/browser/current_release/term/SO:0002052), a variant where the mutated gene product adversely affects the other (wild type) gene product. ``SO:0002054`` refers to a [loss of function variant](http://www.sequenceontology.org/browser/current_release/term/SO:0002054), a sequence variant whereby the gene product has diminished or abolished function. ``SO:0001561`` refers to a [polypeptide partial loss of function](http://www.sequenceontology.org/browser/current_release/term/SO:0001561), a sequence variant that causes some but not all loss of polypeptide function with respect to a reference sequence. ``SO:0002219`` refers to a [functionally normal](http://www.sequenceontology.org/browser/current_release/term/SO:0002219) variant, a sequence variant in which the function of a gene product is retained with respect to a reference. ``SO:0001557`` refers to a [polypeptide gain of function variant](http://www.sequenceontology.org/browser/current_release/term/SO:0001557), a sequence variant which causes gain of polypeptide function with respect to a reference sequence. ``SO:0002053`` refers to a [gain of function variant](http://www.sequenceontology.org/browser/current_release/term/SO:0002053), a sequence variant whereby new or enhanced function is conferred on the gene product.
type: string
enum:
- SO:0002052
- SO:0002054
- SO:0001561
- SO:0002219
- SO:0001557
- SO:0002053
description:
description: >-
A free-text description of the function change.
type: string
required:
- functionConsequence

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