← Back to Examples

v::NTRK1(hgnc:8031)

Source

CIViC feature id 62026: v::NTRK1 Fusion

Recipes that example satisfies

Gene Fusion

Properties

id: civic.fid:62026

CIViC variant id, where fid stands for Feature ID, derived from the Feature ID contained within the CIViC URL for this genomic alteration

type: CategoricalVariant

This value is required by the specification for all Categorical Variant objects.

name: v::NTRK1(hgnc:8031)

Human-readable label given to the fusion by CIViC, with gene identifiers per the VICC Fusion representation recommendation. CIViC did not provide identifiers for the genes, so HGNC identifiers were used.

description: An optional field to describe this Categorical Variant.

This field was populated with an example value because CIViC does not provide a longform description.

aliases: v::NTRK1, NTRK1 fusion

CIViC does not provide aliases for this fusion; these were added as examples

extensions: Known Gene Elements.

Known Gene Elements as a Concept Set of Mappable Concepts for LMNA, TFG, TP53, TPM3, and TPR.

mappings: null

No mappings included.

Constraints

Adjacency Constraint

The adjoinedElements array specifies an UnspecifiedElement for the uncharacterized fusion partner and NTRK1 (hgnc:8031) as a mappable concept for the known partner. The orderKnown field is set to false to reflect that the 5’-to-3’ orientation between the partners has not been established.

Members

This example does not include members.

Full example: JSON

{
  "id": "civic.fid:62026",
  "type": "CategoricalVariant",
  "name": "v::NTRK1(hgnc:8031)",
  "description": "An optional field to describe this Categorical Variant.",
  "aliases": [
    "v::NTRK1",
    "NTRK1 fusion"
  ],
  "constraints": [
    {
      "type": "AdjacencyConstraint",
      "orderKnown": false,
      "adjoinedElements": [
        {
          "type": "UnspecifiedElement"
        },
        {
          "id": "hgnc:8031",
          "conceptType": "Gene",
          "name": "NTRK1",
          "primaryCoding": {
            "id": "hgnc:8031",
            "name": "NTRK1",
            "system": "https://genenames.org",
            "code": "HGNC:8031",
            "iris": [
              "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7230"
            ]
          }
        }
      ]
    }
  ],
  "extensions": [
    {
      "name": "Known Gene Elements",
      "description": "Known gene elements that may satisfy this Categorical Variant. Please specify if this array is exhaustive or non-exhaustive, and if it is subject to change.",
      "value": {
        "type": "ConceptSet",
        "membershipOperator": "OR",
        "concepts": [
          {
            "id": "hgnc:6636",
            "conceptType": "Gene",
            "name": "LMNA",
            "primaryCoding": {
              "id": "hgnc:6636",
              "name": "LMNA",
              "system": "https://genenames.org",
              "code": "HGNC:6636",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636"
              ]
            }
          },
          {
            "id": "hgnc:11758",
            "conceptType": "Gene",
            "name": "TFG",
            "primaryCoding": {
              "id": "hgnc:11758",
              "name": "TFG",
              "system": "https://genenames.org",
              "code": "HGNC:11758",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11758"
              ]
            }
          },
          {
            "id": "hgnc:11998",
            "conceptType": "Gene",
            "name": "TP53",
            "primaryCoding": {
              "id": "hgnc:11998",
              "name": "TP53",
              "system": "https://genenames.org",
              "code": "HGNC:11998",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11998"
              ]
            }
          },
          {
            "id": "hgnc:12012",
            "conceptType": "Gene",
            "name": "TPM3",
            "primaryCoding": {
              "id": "hgnc:12012",
              "name": "TPM3",
              "system": "https://genenames.org",
              "code": "HGNC:12012",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12012"
              ]
            }
          },
          {
            "id": "hgnc:12017",
            "conceptType": "Gene",
            "name": "TPR",
            "primaryCoding": {
              "id": "hgnc:12017",
              "name": "TPR",
              "system": "https://genenames.org",
              "code": "HGNC:12017",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12017"
              ]
            }
          }
        ]
      }
    }
  ]
}

Full example: YAML

id: civic.fid:62026
type: CategoricalVariant
name: v::NTRK1(hgnc:8031)
description: An optional field to describe this Categorical Variant.
aliases:
  - v::NTRK1
  - NTRK1 fusion
constraints:
  - type: AdjacencyConstraint
    orderKnown: false
    adjoinedElements:
      - type: UnspecifiedElement
      - id: hgnc:8031
        conceptType: Gene
        name: NTRK1
        primaryCoding:
          id: hgnc:8031
          name: NTRK1
          system: https://genenames.org
          code: HGNC:8031
          iris:
            - https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7230
extensions:
  - name: Known Gene Elements
    description: Known gene elements that may satisfy this Categorical Variant. Please specify if this array is exhaustive or non-exhaustive, and if it is subject to change.
    value:
      type: ConceptSet
      membershipOperator: OR
      concepts:
        - id: hgnc:6636
          conceptType: Gene
          name: LMNA
          primaryCoding:
            id: hgnc:6636
            name: LMNA
            system: https://genenames.org
            code: HGNC:6636
            iris:
              - https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636
        - id: hgnc:11758
          conceptType: Gene
          name: TFG
          primaryCoding:
            id: hgnc:11758
            name: TFG
            system: https://genenames.org
            code: HGNC:11758
            iris:
              - https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11758
        - id: hgnc:11998
          conceptType: Gene
          name: TP53
          primaryCoding:
            id: hgnc:11998
            name: TP53
            system: https://genenames.org
            code: HGNC:11998
            iris:
              - https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11998
        - id: hgnc:12012
          conceptType: Gene
          name: TPM3
          primaryCoding:
            id: hgnc:12012
            name: TPM3
            system: https://genenames.org
            code: HGNC:12012
            iris:
              - https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12012
        - id: hgnc:12017
          conceptType: Gene
          name: TPR
          primaryCoding:
            id: hgnc:12017
            name: TPR
            system: https://genenames.org
            code: HGNC:12017
            iris:
              - https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12017