Properties of human genes guided by their enrichment in rare and common variants

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Title: Properties of human genes guided by their enrichment in rare and common variants
Author(s): Alhuzimi, E
Leal, LG
Sternberg, MJE
David, A
Item Type: Journal Article
Abstract: We analyzed 563,099 common (minor allele frequency, MAF≥0.01) and rare (MAF < 0.01) genetic variants annotated in ExAC and UniProt and 26,884 disease-causing variants from ClinVar and UniProt occurring in the coding region of 17,975 human protein-coding genes. Three novel sets of genes were identified: those enriched in rare variants (n = 32 genes), in common variants (n = 282 genes), and in disease-causing variants (n = 800 genes). Genes enriched in rare variants have far greater similarities in terms of biological and network properties to genes enriched in disease-causing variants, than to genes enriched in common variants. However, in half of the genes enriched in rare variants (AOC2, MAMDC4, ANKHD1, CDC42BPB, SPAG5, TRRAP, TANC2, IQCH, USP54, SRRM2, DOPEY2, and PITPNM1), no disease-causing variants have been identified in major, publicly available databases. Thus, genetic variants in these genes are strong candidates for disease and their identification, as part of sequencing studies, should prompt further in vitro analyses.
Publication Date: 21-Dec-2017
Date of Acceptance: 27-Nov-2017
URI: http://hdl.handle.net/10044/1/54389
DOI: https://dx.doi.org/10.1002/humu.23377
ISSN: 1059-7794
Publisher: Wiley
Start Page: 365
End Page: 370
Journal / Book Title: Human Mutation
Volume: 39
Issue: 3
Copyright Statement: © 2017 The Authors. Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Sponsor/Funder: Wellcome Trust
Funder's Grant Number: WT/104955/Z/14/Z
Keywords: genetic variants
human disease
protein coding genes
protein network
0604 Genetics
1103 Clinical Sciences
Genetics & Heredity
Publication Status: Published
Appears in Collections:Faculty of Natural Sciences



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