Supplementary Data 1 | Annotated summary of associations

DOUGHERTY, Gerard W., et al. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. Nature communications, 2020, 11. Jg., Nr. 1, S. 1-20..

Publication: https://doi.org/10.1038/s41467-020-19113-0

Description

Associations identified for CFAP45 and CFAP52 were further curated for likely ciliary function, tissue distribution, nucleotide binding, and links to asthenospermia. Ciliary function is inferred by in silico4,5or proteomic6studies; tissue distribution indicates RNA and protein expression profile provided by The Human Protein Atlas database; nucleotide binding indicates annotation in the DAVID Bioinformatics database or identification by Adachi et al7; asthenospermia indicates proteins that were downregulated in asthenospermic males in the study by Amaral et al8. Please see Supplementary Data 1for the full list of curated associations.

Ciliary indicates association with ciliary function by in silico or proteomic studies (e.g., Gherman et al., 2006, ciliaproteome.com; Inglis et al., 2006, ciliome.com; and / or Blackburn et al., 2017 (PMID: 28282151)
Tissue distribution indicates RNA and protein expression profile in The Human Protein Atlas (proteinatlas.org)
Nucleotide binding indicates annotation by DAVID and / or Adachi et al., 2014 (PMID: 25230287)
Asthenospermia indicates proteins downregulated in asthenospermia (Amaral et al., 2014; PMID: 25250979)

Disclaimer

The publication CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module by Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada & Heymut Omran is published under an open access license: http://creativecommons.org/licenses/by/4.0/. Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format.

Curation by the MFGA team

Pie chart of selected column

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