Clinical Consequences of 3D Rearrangement study table

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Last updated 12:12 AM on 7/17/26
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14 Terms

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SV Type 1

Deletion (TAD Fusion)

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SV Type 2

Duplication (Neo-TAD)

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SV Type 2

Inversion (TAD Shuffling)

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Deletion (TAD Fusion) Mechanism

CTCF boundary deletion; enhancer adopts neighbouring genes

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Duplication (Neo-TAD) Mechanism

TAD boundary duplication creates new domain

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Inversion (TAD Shuffling) Mechanism

Region reoriented; enhancers near inappropriate genes

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Deletion (TAD Fusion) Example

LMNB1 locus deletion

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Duplication (Neo-TAD) Example

SOX9 duplications

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Inversion (TAD Shuffling) Example

WNT6 misregulation

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Deletion (TAD Fusion) Disease

Adult-onset demyelinating leukodystrophy

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Duplication (Neo-TAD) Disease

Cooks syndrome (nail aplasia/short digits)

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Inversion (TAD Shuffling) Disease

F-syndrome

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Position Effects

Gene misexpression due to altered chromatin environment from S