WAC amino acid data

The file contains the following two tabs with labeled columns: <br> <strong>Amino Acid Combined:</strong> Amino Acid- The number of each amino acid. NP 057712.2 Homo sapiens- The amino acid used at each position. AA #- The combined amino acid and number for each ELM / NLS- The number of annotated motifs for each amino acid. ELM (nuclear compartment) / NLS- The motif details predicted at each amino acid. Clinical Missense- The number of ClinVar or Geno2MP variants observed in rare disease patients. Conservation- The percent of all species with conservation relative to the human amino acid. Basic- The percent of all species with conservation of polar basic (R/K/H) amino acids relative to the human amino acid. Acidic- The percent of all species with conservation of polar acidic (E/D) amino acids relative to the human amino acid. S/T- The percent of all species with conservation of S/T amino acids relative to the human amino acid. These amino acids have potential phosphorylation. 21 codon score- The conservation scores placed on a 21-codon sliding window, such that each score represents the amino acid with ten before and after added together. 21 codon score Basic- The conservation scores of basic amino acids placed on a 21-codon sliding window, such that each score represents the amino acid with ten before and after added together. 21 codon score Acidic- The conservation scores of acidic amino acids placed on a 21-codon sliding window, such that each score represents the amino acid with ten before and after added together. 21 codon score S/T- The conservation scores of S/T amino acids placed on a 21-codon sliding window, such that each score represents the amino acid with ten before and after added together. Features- UniProt annotations from each amino acid. Splice sites- A value of 1 indicates the two amino acids found at each splicing site of WAC sequence. Modification- UniProt annotated posttranslational modifications. Modification Score- A binary score if a modification occurs at the amino acid. gnomAD missense diff var- The number of unique gnomAD annocated missense variants at each amino acid. gnomAD missense combined frequency- The total allele frequency of all missense variants at each amino acid. A value of 1 is 100% variant and 0 is 0% variant. ClinVar LoF diff var- Unique loss of function variants within the ClinVar database. These are stop codons and splicing changes. ClinVar LoF top CADD- The highest CADD score of any ClinVar loss of function variant at the amino acid. The higher the score the more deleterious a variant is. ClinVar missense diff var- Unique missense variants within the ClinVar database. ClinVar missense top CADD- The highest CADD score of any ClinVar missense variant at the amino acid. The higher the score the more deleterious a variant is. Geno2MP total HPO profiles- The total number of Geno2MP human phenotype profiles for variants at the amino acid. Geno2MP top CADD- The highest CADD score of any Geno2MP missense variant at the amino acid. The higher the score the more deleterious a variant is. Following tabs- represent the amino acid found in the alignment from various species WAC sequence. <br> <strong>Geno2MP Missense</strong>: A tab that lists all of the Geno2MP listed variants. Details of the column heads can be found at https://geno2mp.gs.washington.edu/.该文件包含以下两个带标注列的标签页： **氨基酸组合（Amino Acid Combined）**： - 氨基酸（Amino Acid）：记录每种氨基酸的数量 - NP 057712.2 智人（Homo sapiens）：记录每个位置对应的氨基酸种类 - AA #：记录每个位点的氨基酸组合与对应计数 - ELM / NLS：记录每个氨基酸所对应的注释基序数量 - ELM（核区室）/ NLS：记录每个氨基酸所预测的基序详细信息 - 临床错义突变（Clinical Missense）：记录罕见病患者中检出的ClinVar或Geno2MP变异数量 - 保守性（Conservation）：记录相较于人类氨基酸，所有物种中该氨基酸的保守百分比 - 碱性氨基酸（Basic）：记录相较于人类氨基酸，所有物种中极性碱性氨基酸（精氨酸R/赖氨酸K/组氨酸H）的保守百分比 - 酸性氨基酸（Acidic）：记录相较于人类氨基酸，所有物种中极性酸性氨基酸（谷氨酸E/天冬氨酸D）的保守百分比 - S/T位点：记录相较于人类氨基酸，所有物种中丝氨酸S/苏氨酸T氨基酸的保守百分比，此类氨基酸存在潜在磷酸化修饰位点 - 21密码子得分（21 codon score）：基于21密码子滑动窗口计算的保守得分，每个得分对应当前氨基酸及其前后各10个氨基酸的综合保守情况 - 碱性氨基酸21密码子得分（21 codon score Basic）：基于21密码子滑动窗口计算的碱性氨基酸保守得分，每个得分对应当前氨基酸及其前后各10个氨基酸的综合保守情况 - 酸性氨基酸21密码子得分（21 codon score Acidic）：基于21密码子滑动窗口计算的酸性氨基酸保守得分，每个得分对应当前氨基酸及其前后各10个氨基酸的综合保守情况 - S/T氨基酸21密码子得分（21 codon score S/T）：基于21密码子滑动窗口计算的S/T氨基酸保守得分，每个得分对应当前氨基酸及其前后各10个氨基酸的综合保守情况 - 特征（Features）：来自通用蛋白质资源库（UniProt）的各氨基酸注释信息 - 剪接位点（Splice sites）：取值为1时，表示WAC序列每个剪接位点处的两个氨基酸 - 修饰（Modification）：通用蛋白质资源库（UniProt）注释的转录后修饰信息 - 修饰得分（Modification Score）：二值得分，用于标记该氨基酸位点是否存在修饰 - gnomAD错义突变差异变异数（gnomAD missense diff var）：每个氨基酸位点上的唯一gnomAD注释错义变异数量 - gnomAD错义突变联合频率（gnomAD missense combined frequency）：该氨基酸位点上所有错义变异的总等位基因频率，取值1代表100%变异率，取值0代表0%变异率 - ClinVar功能丧失变异差异数（ClinVar LoF diff var）：ClinVar数据库中的唯一功能丧失变异，包括终止密码子变异与剪接位点变异 - ClinVar功能丧失变异最高CADD（Combined Annotation Dependent Depletion）得分：该氨基酸位点上所有ClinVar功能丧失变异的最高CADD得分，得分越高代表变异的有害程度越强 - ClinVar错义突变差异变异数（ClinVar missense diff var）：ClinVar数据库中的唯一错义变异数量 - ClinVar错义突变最高CADD得分：该氨基酸位点上所有ClinVar错义变异的最高CADD得分，得分越高代表变异的有害程度越强 - Geno2MP人类表型档案总数（Geno2MP total HPO profiles）：该氨基酸位点上的变异所对应的Geno2MP人类表型档案总数量 - Geno2MP错义变异最高CADD得分：该氨基酸位点上所有Geno2MP错义变异的最高CADD得分，得分越高代表变异的有害程度越强 后续标签页：展示不同物种序列比对得到的WAC序列中所包含的氨基酸信息 **Geno2MP错义突变（Geno2MP Missense）**：该标签页列出了所有Geno2MP收录的变异。列名的详细说明可访问https://geno2mp.gs.washington.edu/查阅。