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Enum: RegulatoryElementTypeEnum

Type of gene regulatory element disrupted by a non-coding variant.

URI: dismech:enum/RegulatoryElementTypeEnum

Permissible Values

Value Meaning Description
PROMOTER None Promoter-proximal element overlapping the transcription start site, containin...
ENHANCER None Distal regulatory element that upregulates transcriptional activity
SILENCER None Regulatory element that represses or silences gene transcription
INSULATOR None Boundary element (often CTCF-bound) that compartmentalizes adjacent gene regu...
TAD_BOUNDARY None Topologically associating domain boundary
LOCUS_CONTROL_REGION None A cluster of regulatory elements that controls expression of a gene cluster (...

Slots

Name Description
regulatory_element_type Type of gene regulatory element disrupted by a non-coding variant (e

Identifier and Mapping Information

Schema Source

  • from schema: https://w3id.org/monarch-initiative/dismech

LinkML Source

name: RegulatoryElementTypeEnum
description: Type of gene regulatory element disrupted by a non-coding variant.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  PROMOTER:
    text: PROMOTER
    description: Promoter-proximal element overlapping the transcription start site,
      containing core TF binding elements (TATA, CAAT, GC, CACCC boxes).
    title: Promoter
  ENHANCER:
    text: ENHANCER
    description: Distal regulatory element that upregulates transcriptional activity.
      May be cell-type-specific or shared across cell types.
    title: Enhancer
  SILENCER:
    text: SILENCER
    description: Regulatory element that represses or silences gene transcription.
    title: Silencer
  INSULATOR:
    text: INSULATOR
    description: Boundary element (often CTCF-bound) that compartmentalizes adjacent
      gene regulatory domains and limits enhancer-promoter interactions.
    title: Insulator
  TAD_BOUNDARY:
    text: TAD_BOUNDARY
    description: Topologically associating domain boundary. Structural element maintaining
      chromatin loop domains; disruption can cause enhancer adoption or ectopic regulatory
      interactions.
    title: TAD boundary
  LOCUS_CONTROL_REGION:
    text: LOCUS_CONTROL_REGION
    description: A cluster of regulatory elements that controls expression of a gene
      cluster (e.g., the beta-globin LCR).
    title: Locus control region