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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 Additional Info
PROMOTER None Promoter-proximal element overlapping the transcription start site, containin... Title: Promoter
ENHANCER None Distal regulatory element that upregulates transcriptional activity Title: Enhancer
SILENCER None Regulatory element that represses or silences gene transcription Title: Silencer
INSULATOR None Boundary element (often CTCF-bound) that compartmentalizes adjacent gene regu... Title: Insulator
TAD_BOUNDARY None Topologically associating domain boundary Title: TAD boundary
LOCUS_CONTROL_REGION None A cluster of regulatory elements that controls expression of a gene cluster (... Title: Locus control region

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