Individual | 7q11.23 deletion | Hemizygous allele | Genome-wide | Genome-wide rare LoF SNVs | |||
Origin | GTF2IRD2 | Size (Mb) | SNVs | CNVs | ASD candidate genes | LoF intolerant genes | |
WBS1 | Pat | 1M/3T | 1.55 | ||||
WBS2 | Pat | 2M/2T | 1.55 | T at rs12539160 | |||
WBS3 | Pat | 1M/3T | 1.55 | SIK1 partial dupPI | |||
WBS4 | Pat | 1M/2T | 1.83 | CC2D1A c.1357-2A>CPI | |||
WBS5 | Pat | 2M/2T | 1.55 | PYHIN1 p.(Arg373*)MI | SEC24C c.2682+2A>GMI | ||
UBR5 p.(Arg633*)DN | |||||||
WBS6 | Pat | 1Ch/1M/2T | 1.55 | T at rs12539160 | AGAP1 c.1051-2A>TPI | ||
WBS7 | Mat | 2M/2T | 1.55 | DUSP22 delNM | USP45 p.(Glu220*)MI | CXXC1 p.(Ser222Leufs*7)NM | |
WBS8 | Pat | 1M/2T | 1.83 | PIK3CG p.(Glu14Glyfs*147)PI | MED26 c.147+2T>CPI | ||
EPHB1 p.(Ser435ProfsTer13)MI |
*Stop codon.
Ch, chimeric-type copies; DN, de novo; del, deletion; dup, duplication; LoF, loss of function; M, medial-type copies; MI, maternally inherited; Mat, de novo, maternal chromosome; NM, not maternal (father not available); PI, paternally inherited; Pat, de novo, paternal chromosome; T, telomeric-type copies; WBS, Williams-Beuren syndrome.