Supplementary Fig1. the Sequence Rare Variants of ATG5 Identified in 8 Patients and One

Supplementary Fig1. The sequence rare variants of ATG5 identified in 8 patients and one healthy control.

a A presents the 5 rare variants of ATG5 only identified in one lupus nephritis patient respectively. B presents the rare variant of ATG5 identified in one lupus nephritis patient and one healthy control. C presents the two rare variants of ATG5 only identified in one systemic lupus erythematosus patient without renal damage respectively.

b All the variants are marked with arrows.

Supplementary Table1. Allelic association of the sequence SNPs in ATG5 with LN

SNP
(minor allele) / Location / MAF cases
(120, %) / MAF controls
(60, %) / P
rs510432(C) / 106774030 / 44.2 / 40.5 / 0.439
rs77859116(C) / 106756282 / 0.8 / 0.5 / 0.743
rs138203657(C) / 106740759 / 1.2 / 0.4 / 0.343
rs1624701(T) / 106727719 / 5.5 / 6.3 / 0.691
rs41292420(T) / 106634569 / 5.5 / 6.8 / 0.518

a Abbreviations: LN=lupus nephritis, MAF=Minor allele frequency.

b P values were calculated by chi-square test using 2 × 2 contingency tables based on allele frequencies.

c None of the genotypes in the controls showed significant deviation from Hardy-Weinberg equilibrium.

d Chromosome positions were according to the National Center for Biotechnology Information reference assembly.

Supplementary Table2. Bioinformation mechanism prediction of the rare variants

Rare variants / Position /

1  Variant Effect Predictor

/ RegRNA Database
Types of feature / Transcriptional/splicing RegRNA / miRNA target site
106696229T>C / Intron5 / intron_variant
non_coding_transcript_variant / Exonic splicing RegRNA / hsa-miR-144;hsa-miR-488;hsa-miR-489;
hsa-miR-499;hsa-miR-517
106696268G>T / Intron5 / intron_variant
non_coding_transcript_variant / Intronic splicing RegRNA / hsa-miR-587;hsa-miR-590;hsa-miR-3686
106740756->TTAT / Intron4 / intron_variant / hsa-miR-3647;hsa-miR-488;hsa-miR-548l;
hsa-miR-548m;hsa-miR-548n
106740994G>A / Intron3 / Intron_variant
Regulatory_region_variant / Intronic splicing RegRNA / hsa-miR-144;hsa-miR-155;hsa-miR-3646;
hsa-miR-3662;hsa-miR-548;hsa-miR-553
106773530T>G / 5’UTC / Upstream_gene_variant
5_prime_UTR-variant
Regulatory_region_variant / Transcriptional RegRNA / hsa-miR-1286;hsa-miR-3191;hsa-miR-325;
hsa-miR-663;hsa-miR-3131;hsa-miR-1289
hsa-miR-508-5p
106773567C>T / 5’UTC / Upstream_gene_variant
5_prime_UTR-variant
Regulatory_region_variant / Exonic splicing RegRNA / hsa-miR-1276;hsa-miR-1469;hsa-miR-330-3p;
hsa-miR-548k;hsa-miR-658
106773710G>T / Promoter
region / Upstream_gene_variant
Regulatory_region_variant
TF_binding_site_variant / hsa-miR-1307;hsa-miR-143;hsa-miR-769-5p
106773751C>T / Promoter
region / Upstream_gene_variant
Regulatory_region_variant / hsa-miR-151-5p;hsa-miR-1538;hsa-miR-3173