The Nomenclature of Human and Vertebrate Genes

项目概要- HGNC HUGO基因命名委员会（HGNC）的核心目标是实现有效的沟通 和数据交换，每个人都有兴趣在人类基因，通过提供一个独特的，简洁的， 每个人类基因的标准化基因符号和名称。随着基因组数据在医疗保健中的使用增加， 对基因一致性语言的需求变得越来越迫切。本提案的目标1将确保 新的人类蛋白质编码基因的标准化命名的连续性，长和小的非蛋白质编码RNA （ncRNA）基因和假基因。特别地，所有推定的新蛋白质编码基因座将需要仔细的研究。 考虑;作为共识编码序列（CCDS）联盟的积极成员，HGNC可以确保 该命名的基因座准确地反映了由联合体成员提供的当前专家手册注释。目的 2集中于重新命名目前分配了占位符符号的新特征化的人类基因; 一些具有基于表型命名法的基因也将被考虑用于重新分配。这些更新将 反映功能信息，帮助名称转移到直系同源基因，避免混淆。本轮 修订将是冻结大多数蛋白质编码基因命名的前兆。目标3侧重于 协调脊椎动物之间的基因命名，与现有的六种脊椎动物基因命名法合作 根据人类基因命名的委员会（小鼠、大鼠、鸡、Anolis、非洲爪蟾、斑马鱼） 术语.作为脊椎动物基因命名委员会（VGNC）， 缺乏命名权威的脊椎动物基因，如牛、狗和马。最近的基因命名 黑猩猩使创建必要的工具，管道和数据库所需的命名在其他 物种这将反映与人类基因的同源关系。目标4将研究 机器学习在长ncRNA基因和脊椎动物系统命名自动分配中的应用 直向同源物，并且可能是假基因。模型将在手动管理的数据集上进行训练，以学习 显性和隐性的实践，然后大规模应用。目标5将确保脊椎动物之间的一致命名 在复杂和不同的基因家族，这可以揭示一些最有趣的进化生物学， 说明物种之间的关键多样性，但需要仔细的人工管理。HGNC将与 专家们在与细胞色素P450（CYP 450）相关的家族中扩展成功的基因命名 进一步的物种，也跨物种工作的其他两个复杂的关键家庭参与解毒， 谷胱甘肽S-转移酶（GST）和UDP-葡萄糖醛酸基转移酶（UGT）。HGNC还将与专家合作 将最大的脊椎动物基因家族嗅觉受体的基因命名从哺乳动物扩展到其他物种， 研究模式生物，如斑马鱼，非洲爪蟾和鸡。HGNC是全球唯一提供 用于整个生物医学科学和临床实践的基因的系统和用户友好的名称; 这是一个至关重要的设施，对公共卫生的重要性和直接利益日益增加。

PROJECT SUMMARY - HGNC The core objective of the HUGO Gene Nomenclature Committee (HGNC) is to enable effective communication and data exchange between everyone with an interest in human genes, by providing a unique, concise and standardized gene symbol and name for every human gene. As usage of genomic data increases in healthcare the need for a consistent language for genes becomes ever more vital. Aim 1 of this proposal will ensure the continuity of standardized naming of novel human protein-coding genes, long and small non-protein-coding RNA (ncRNA) genes, and pseudogenes. In particular all putative novel protein coding loci will require careful consideration; as active members of the Consensus Coding Sequence (CCDS) consortium, HGNC can ensure that named loci accurately reflect the current expert manual annotations provided by consortium members. Aim 2 concentrates on renaming newly characterized human genes that are currently assigned a placeholder symbol; some genes with a phenotype-based nomenclature will also be considered for reassignment. These updates will reflect functional information, aid name transferal to orthologous genes, and avoid confusion. This round of revision will be a precursor to a nomenclature freeze for the majority of protein coding genes. Aim 3 focusses on coordinating gene naming across vertebrates, collaborating with the six existing vertebrate gene nomenclature committees (mouse, rat, chicken, Anolis, Xenopus, zebrafish) which base their naming on human gene nomenclature. As the Vertebrate Gene Nomenclature Committee (VGNC) this effort will be extended to naming genes in vertebrates lacking a nomenclature authority, such as cow, dog and horse. Recent gene naming in chimpanzee enabled creation of the necessary tools, pipelines and databases required for naming in other species. Assignments will reflect homologous relationships to human genes. Aim 4 will investigate the utility of machine learning in automated assignment of systematic nomenclature to long ncRNA genes and vertebrate orthologs, and potentially to pseudogenes. Models will be trained on manually curated datasets to learn both explicit and implicit practices, and then applied at scale. Aim 5 will ensure consistent naming across vertebrates in complex and divergent gene families, which can reveal some of the most interesting evolutionary biology and account for key diversity between species, but require careful manual curation. HGNC will collaborate with experts to expand the successful gene naming in the pharmacologically relevant cytochrome P450 (CYP) family to further species, also working across species on two other complex key families involved in detoxification, the glutathione S-transferases (GST) and UDP-glucuronosyltransferases (UGTs). HGNC will also work with experts to expand gene naming of olfactory receptors, the largest vertebrate gene family, from mammals to other well- studied model organisms such as zebrafish, Xenopus and chicken. HGNC is the only group worldwide providing systematic and user-friendly names for genes that are used throughout biomedical science and clinical practice; this is a crucial facility, with increasing importance and direct benefits for public health.