Author

Mustafa S Pir

Abdullah Gül UniversityORCID 0000-0002-4645-7626Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:C. elegans· 3 Approach:experimental assay· 3 Organism:human· 3 Research Focus:variant effect prediction· 3 Approach:machine learning (classical)· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Oktay I. KaplaniD· 4 shared Sebiha CevikiD· 4 shared Aslı KaramaniD· 2 shared Ferhan YenisertiD· 2 shared Pei ZhaoiD· 2 shared Şükrü Sadik ÖneriD· 2 shared Ahmet SayıcıiD· 1 shared Atiyye Zorluer· 1 shared

Activity by Year

2021-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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4 shared papersGenetics

Oktay I. KaplanORCID

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Author profile →

5 papers

Recent·Most cited

AFFIPred: AlphaFold2 Structure-based Functional Impact Prediction of Missense Variations

Mustafa S Pir, Emel Timuçin

AFFIPred uses AlphaFold2 structures and machine learning to predict the pathogenicity of missense variants, achieving performance comparable to existing methods without relying on experimental structures.

Protein Science · Jan 22, 2025Peer-reviewedBioinformatics

Matching Variants for functional characterization of genetic variants

Sebiha Cevik, Pei Zhao, Atiyye Zorluer, Mustafa S Pir, Wenyin Bian, Oktay I. Kaplan

The paper functionally characterizes human genetic variants by creating and analyzing matching variants in C. elegans using CRISPR/Cas9.

G3 Genes Genomes Genetics · Oct 27, 2023Peer-reviewedGenetics

CilioGenics: an integrated method and database for predicting novel ciliary genes

Mustafa S Pir, Ferhan Yenisert, Aslı Karaman, Efe Begar, Sofia Tsiropoulou, Elif Nur Firat‐Karalar, Oliver E. Blacque, Şükrü Sadik Öner, Osman Doluca, Sebiha Cevik, Oktay I. Kaplan

CilioGenics integrates multiple methodologies to predict novel ciliary genes, identifying 256 new candidates with 31 experimentally validated.

bioRxiv · Mar 31, 2023 · PreprintBioinformatics

ConVarT: a search engine for matching human genetic variants with variants from non-human species

Mustafa S Pir, Halil Bilgin, Ahmet Sayıcı, Fatih Çoşkun, Furkan M. Torun, Pei Zhao, Yahong Kang, Sebiha Cevik, Oktay I. Kaplan

ConVarT matches human genetic variants with equivalent variants in mice and C. elegans to provide functional insights for human mutations.

Nucleic Acids Research · Oct 15, 2021Peer-reviewedGenetics

Functional redundancy of WDR31 with GTPase-activating proteins ELMOD and RP2 in regulating IFT trains via BBSome

Sebiha Cevik, Xiaoyu Peng, Tina Beyer, Mustafa S Pir, Ferhan Yenisert, Franziska Woerz, F. Hoffmann, Betul Altunkaynak, Betul Pir, Karsten Boldt, Aslı Karaman, Miray Çakıroğlu, Şükrü Sadik Öner, Ying Cao, Marius Ueffing, Oktay I. Kaplan

This study identifies WDR31 as a ciliary protein that functions redundantly with ELMOD and RP2 to regulate IFT trains via BBSome, affecting cilia morphology and IFT dynamics.

bioRxiv · Jun 10, 2021 · PreprintGenetics