Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing

Du, Na; Dong, Dan; Sun, Luyao; Che, Lihe; Li, Xiaohua; Liu, Yong; Wang, Bin

doi:10.1186/s40001-021-00613-8

Table 1 The protein changes of 25 genes

From: Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing

Gene name	Region	AA change	Screening method
AGRN	Exonic	NM_198576: exon10: c.G1855A: p. V619M	Dominant inheritance pattern
ACOT13	Exonic	NM_018473: exon3: c.G295T: p.D99Y	Dominant inheritance pattern
ACOT13	Exonic	NM_001160094: exon4: c.G226T: p. D76Y	Dominant inheritance pattern
ADCY4	Splicing		Dominant inheritance pattern
HEATR5A	Exonic	NM_015473: exon17: c.C2449G: p.H817D	Dominant inheritance pattern
PTGER2	Exonic	NM_000956: exon1: c.G401A: p. R134H	Dominant inheritance pattern
ADAM21	Exonic	NM_003813: exon2: c.A945G: p. I315M	Dominant inheritance pattern
ABCA2	Exonic	NM_001606: exon9: c.C1045T: p.Q349X	Harmful screening
ABCA2	Exonic	NM_212533: exon9: c.C1135T: p. Q379X	Harmful screening
ATIC	Exonic	NM_004044: exon15: c.A1568T: p. E523V	Harmful screening
ATP6V1A	Exonic	NM_001690: exon4: c.415dupA: p.C138fs	Harmful screening
FLVCR1	Exonic	NM_014053: exon1: c.A551C: p. N184T	Harmful screening
GLI3	Splicing		Harmful screening
GLRA1	Exonic	NM_001292000: exon8:c.C1075T: p.R359C	Harmful screening
		NM_000171: exon9:c.C1324T: p. R442C
		NM_001146040: exon9:c.C1348T: p. R450C
GPR143	Exonic	NM_000273: exon1: c.134_179del: p. L45fs	Harmful screening
HBS1L	Exonic	NM_001145158: exon15: c. A1762T: p.K588X	Harmful screening
HBS1L	Exonic	NM_006620: exon16: c.A1888T: p. K630X	Harmful screening
INSL3	Exonic	NM_001265587: exon1: c.148dupC: p. R50fs	Harmful screening
INSL3	Exonic	NM_005543: exon1: c.148dupC: p. R50fs	Harmful screening
MUTYH	Splicing		Harmful screening
NCF4	Exonic	NM_000631: exon3:c.C178T: p.R60C	Harmful screening
NCF4	Exonic	NM_013416: exon3:c.C178T: p. R60C	Harmful screening
PKD1	Exonic	NM_000296: exon39:c.C11254T: p.R3752W	Harmful screening
PKD1	Exonic	NM_001009944: exon39:c.C11257T: p. R3753W	Harmful screening
PRMT8	Exonic	NM_001256536: exon2: c.54_66del: p. N18fs NM_019854: exon2: c.81_93del: p. N27fs	Harmful screening
RPS6KA4	Exonic	NM_001006944: exon7: c.G755A: p.R252Q	Harmful screening
		NM_001300802: exon7: c.G755A: p.R252Q
		NM_001318361: exon7: c.G566A: p. R189Q
		NM_003942: exon7: c.G755A: p. R252Q
SBDS	Splicing		Harmful screening
SCN11A	Exonic	NM_014139: exon14: c.G2386A: p.V796M NM_001349253: exon 18: c.G2386A: p. V796M	Harmful screening
SND1	Exonic	NM_014390: exon7:c.C694T: p. R232X	Harmful screening
SUPT5H	Splicing		Harmful screening
USH2A	Splicing		Harmful screening

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ISSN: 2047-783X

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