PMC:7040011 / 1596-5017 JSONTXT 11 Projects

Annnotations TAB TSV DIC JSON TextAE

Id Subject Object Predicate Lexical cue
T13 0-335 Sentence denotes To systematically investigate the candidate functional coding variants in ACE2 and the allele frequency (AF) differences between populations, we analyzed all the 1700 variants (Supplementary Table S1) in ACE2 gene region from the ChinaMAP (China Metabolic Analytics Project, under reviewing) and 1KGP (1000 Genomes Project)9 databases.
T14 336-496 Sentence denotes The AFs of 62 variants located in the coding regions of ACE2 in ChinaMAP, 1KGP, and other large-scale genome databases were summarized (Supplementary Table S2).
T15 497-608 Sentence denotes All of the 32 variants potentially affecting the amino acid sequence of ACE2 in databases were shown (Fig. 1a).
T16 609-775 Sentence denotes Previous study showed that the residues near lysine 31, and tyrosine 41, 82–84, and 353–357 in human ACE2 were important for the binding of S-protein in coronavirus5.
T17 776-861 Sentence denotes The mutations in these residues were not found in different populations in our study.
T18 862-957 Sentence denotes Only a singleton truncating variant of ACE2 (Gln300X) was identified in the ChinaMAP (Fig. 1a).
T19 958-1081 Sentence denotes These data suggested that there was a lack of natural resistant mutations for coronavirus S-protein binding in populations.
T20 1082-1196 Sentence denotes The effects of low-frequency missense variants in populations for S-protein binding could be further investigated.
T21 1197-1378 Sentence denotes The distributions of seven hotspot variants (Lys26Arg, Ile468Val, Ala627Val, Asn638Ser, Ser692Pro, Asn720Asp, and Leu731Ile/Leu731Phe) in different populations were shown (Fig. 1b).
T22 1379-1595 Sentence denotes Six low-frequency loci (rs200180615, rs140473595, rs199951323, rs147311723, rs149039346, and rs73635825) were found to be specific in 1KGP database, the AFs of which were also low in the gnomAD and TopMed10 database.
T23 1596-1734 Sentence denotes Only two of these six variants (rs200180615 and rs140473595) could be found in CHB (Han Chinese in Beijing) population with the AF < 0.01.
T24 1735-1998 Sentence denotes Interestingly, the SNP rs2285666 with the highest AF in the 62 variants exhibited much higher AF in the ChinaMAP (0.556) and CHS (Han Chinese South, 0.557) populations compared to others (AMR, Ad Mixed American, 0.336; AFR, African, 0.2114; EUR, European, 0.235).
T25 1999-2146 Sentence denotes In addition, the homozygous mutation rate in males (0.550) was much higher than females (0.310) in the Chinese population (Supplementary Table S2).
T26 2147-2325 Sentence denotes Taken together, the differences in AFs of ACE2 coding variants among different populations suggested that the diverse genetic basis might affect ACE2 functions among populations.
T27 2326-2423 Sentence denotes Fig. 1 The coding-region variants and eQTL variants for ACE2 in East Asian and other populations.
T28 2424-2513 Sentence denotes a Schematics of 32 coding variants in ACE2 identified in the ChinaMAP and 1KGP databases.
T29 2514-2595 Sentence denotes Yellow stars indicate the nonsense variants; dots indicate the missense variants.
T30 2596-2734 Sentence denotes The number of samples with hotspot variants was marked. b The distribution of hotspot missense mutations of ACE2 in different populations.
T31 2735-2890 Sentence denotes The colors indicate different populations. c The distribution and the allele frequencies of representative eQTL variants for ACE2 in different populations.
T32 2891-2986 Sentence denotes Pie charts depict the allele frequencies of an intron variant of ACE2 (rs4646127) in the world.
T33 2987-3088 Sentence denotes Orange color denotes the frequency of alteration allele, and blue color denotes the reference allele.
T34 3089-3158 Sentence denotes The allele frequencies of 15 eQTLs for ACE2 gene are shown in tables.
T35 3159-3242 Sentence denotes The color gradient from blue to red indicates the increasing of allele frequencies.
T36 3243-3333 Sentence denotes The allele frequencies of INDEL variant rs200781818 were annotated by the gnomAD database.
T37 3334-3421 Sentence denotes EAS, East Asian; EUR, European; AFR, African; SAS, South Asian; AMR, Ad Mixed American.