Research Data Leeds Repository

Citation

Liu, Lu, Au, Cheuk W., Hany, Ummey, Rigby, Alice L., Chauhan, Anesha, Brown, Catriona, Sims, Jessie, Murillo, Gina, Gabriela Acosta de Carmargo, Marìa, Inglehearn, Chris F. I, Watson, Christopher M., Mighell, Alan J. and Smith, Claire E.L. (2026) ACP4 Variants In Hypoplastic Amelogenesis Imperfecta supplementary data. University of Leeds. [Dataset] https://doi.org/10.5518/1814

Dataset description

This deposit contains supplementary data for the publication "ACP4 Variants In Hypoplastic Amelogenesis Imperfecta". This includes all of the input files and scripts used to generate the protein models for the wild-type ACP4 protein and the various substitutions resulting from the genetic variants identified in the study. It also contains the script and pipeline used to analyse the whole exome sequencing data, including alignment, variant calling and filtering.

Keywords:	Amelogenesis, amelogenesis imperfecta, acid phosphatase, ACP4, acid phosphatase 4, enamel
Divisions:	Faculty of Medicine and Health > School of Dentistry
License:	Creative Commons Attribution 4.0 International (CC BY 4.0)
Date deposited:	03 Mar 2026 07:43
URI:	https://archive.researchdata.leeds.ac.uk/id/eprint/1524
Additional details Additional details Creators or authors: Creators ORCID Other ID Email Primary affiliation Primary affiliation ID Primary affiliation ID type Secondary affiliation Secondary affiliation ID Secondary affiliation ID type Liu, Lu https://orcid.org/0009-0008-3593-8409 University of Leeds https://ror.org/024mrxd33 ror Au, Cheuk W. https://orcid.org/0009-0007-0781-820X University of Leeds https://ror.org/024mrxd33 ror Hany, Ummey https://orcid.org/0000-0002-4486-1625 University of Leeds https://ror.org/024mrxd33 ror Rigby, Alice L. https://orcid.org/0000-0001-6888-2255 University of Leeds https://ror.org/024mrxd33 ror Chauhan, Anesha National Institute for Health Research https://ror.org/0187kwz08 ror Brown, Catriona https://orcid.org/0009-0009-9963-4321 National Health Service https://ror.org/02wnqcb97 ror Sims, Jessie https://orcid.org/0009-0008-9335-1382 National Health Service https://ror.org/02wnqcb97 ror Murillo, Gina https://orcid.org/0000-0003-2976-6301 University of Leeds https://ror.org/024mrxd33 ror Gabriela Acosta de Carmargo, Marìa https://orcid.org/0000-0001-7615-918X Universidad de Carabobo https://ror.org/05sj7yp62 ror Inglehearn, Chris F. I https://orcid.org/0000-0002-5143-2562 University of Leeds https://ror.org/024mrxd33 ror Watson, Christopher M. https://orcid.org/0000-0003-2371-1844 Leeds Teaching Hospitals NHS Trust https://ror.org/00v4dac24 ror Mighell, Alan J. https://orcid.org/0000-0002-9624-6923 University of Leeds https://ror.org/024mrxd33 ror Smith, Claire E.L. University of Leeds https://ror.org/024mrxd33 ror Type of data: Dataset Research funders: Wellcome Trust, Borrow Foundation, Rosetrees Trust, Leeds Doctoral Scholarship Grant numbers: 10.13039/100010269, WT093113MA, 10.13039/501100022771, 10.13039/501100000833, PGS19-2/10111 and PGL23 100152 Publication date: 2026 Resource language: English Publisher: University of Leeds Contact email: c.e.l.smith@leeds.ac.uk Last Modified: 09 Mar 2026 11:00

Files

Documentation

WES script [23kB] WES script [23kB] WES script [23kB] Security: Anyone File name: WES_script.docx Content type: Documentation Description: This is the script used to identify the ACP4 variants from whole exome sequencing fastq files for Families 1-3. It details alignment, variant calling and filtering Mime-Type: application/vnd.openxmlformats-officedocument.wordprocessingml.document License: Creative Commons Attribution 4.0 International (CC BY 4.0) File size: 23kB

README_Liu-et-al.2026.rtf [6kB] README_Liu-et-al.2026.rtf [6kB] README_Liu-et-al.2026.rtf [6kB] Security: Anyone File name: README_Liu-et-al.2026.rtf Content type: Documentation Mime-Type: text/rtf License: Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) File size: 6kB

Data

Figures [47MB] Figures [47MB] Figures [47MB] Security: Anyone File name: Figures.zip Content type: Data Description: This folder contains better quality versions or alternative format version of the figures generated from AlphaFold3, Rosetta and pymol Mime-Type: application/zip License: Creative Commons Attribution 4.0 International (CC BY 4.0) File size: 47MB

Program

Rosetta [1MB] Rosetta [1MB] Rosetta [1MB] Security: Anyone File name: Rosetta.zip Content type: Program Description: This folder contains all of the scripts needed to generate the models that we obtained from Rosetta Mime-Type: application/zip License: Creative Commons Attribution 4.0 International (CC BY 4.0) File size: 1MB