Extended Data Table 3.

Most significant (p-value<0.05) enriched GO terms in neurons of WS compared to TD samples.

Down-regulated genes in WS compared to TD in neurons
GO TERM	GO Description	−Log(p-value)	P-value	Genes
GO:0043167	ion binding	2.995842055	0.00100962	BAZ1B,FMO1,VRK2,DSG2,RFC2,ME1,ATP2A3,ADAMTS2,MYL9,TNNC2,ENO3,FOLR1,ACSS3,TRIM38,PCDHB5,TNNC1,ABCG2,CAT, ADGRE5,MYH2,ADGRE2,ZNF835,ATP8B3,MTL5,GSTM1,ACTA1,SH3RF2,ACTC1,ALOX15,CAPN13,ZNF283,ZNF558,ACOX2,GSTM4, SLFN12,RHOD,RNF212,ZNF626,SERPINA5,S100A13,S100A4,ZNF502,ZFP28,ZNF560,ZNF667,PEG3,ZNF726,ZNF737,ZNF578
GO:0008092	cytoskeletal protein binding	2.841323964	0.00144104	USH1C,MYBPC2,TNNC2,STX1A,TNNC1,TNNT2,MYH2,ACTA1,ACTC1,MYOZ1,TPM2
GO:0003013	circulatory system process	2.42626763	0.00374742	ELN,TNNC1,AGT,ACTC1,CD34
GO:0006950	response to stress	2.270514469	0.00536396	TBXA2R,BAZ1B,VRK2,RFC2,ATP2A3,IL4R,LAT2,MYL9,TRIM38,CAT,ADGRE5,MYH2,ADGRE2,MTL5,GSTM1,PARP9,ALOX15,ACOT11, BATF2,CD34,BHLHA15,SIGIRR,IFITM2,SERPINA5,HLA-DRB1,HLA-DRB5,POU5F1
GO:0005198	structural molecule activity	2.015682009	0.00964535	MYOM2,ELN,MYBPC2,MYL9,MYH2,TINAGL1,ACTA1,LAD1,TPM2
GO:0005829	cytosol	1.675077895	0.0211311	USH1C,ME1,MYBPC2,MYL9,TNNC2,STX1A,EIF4H,ENO3,TRIM38,TNNC1,TNNT2,MYH2,GSTM1,PARP9,ACTA1,ACTC1,ALOX15, GSTM4,RHOD,ALDH1A3,S100A13,TPM2,POU5F1
GO:0005777	peroxisome	1.574933909	0.0266113	PXMP4,CAT,ACOX2
GO:0003674	Molecular function	1.54856974	0.0282768	USH1C,TBXA2R,SCN4A,BAZ1B,FMO1,ACPP,VRK2,MYOM2,DSG2,PREX2,ELN,RFC2,ME1,ATP2A3,IL4R,LAT2,MYBPC2,ADAMTS2, PROKR2,MYL9,PXMP4,TNNC2,STX1A,TBL2,EIF4H,ENO3,FOLR1,ACSS3,TRIM38,SLC22A2,PCDHB5,SLC27A6,TNNC1,TNNT2, ABCG2,CAT,ADGRE5,MYH2,ADGRE2,ZNF835,ATP8B3,NSUN5,MTL5,DMGDH,GSTM1,AGT,THUMPD2,PARP9,TINAGL1,ACTA1, RASSF3,SH3RF2,LAD1,ACTC1,ALOX15,ACOT11,UBXN10,CAPN13,RBM47,TC2N,ZNF283,ZNF558,BATF2,ACOX2,GSTM4,CYTL1, PRKCDBP,SLFN12,RHOD,CD34,CHRNA9,GCNT4,MYOZ1,RNF212,BHLHA15,MAATS1,ALDH1A3,RNLS,RBM43,SIGIRR,CCK, ZNF626,LRRIQ4,SERPINA5,S100A13,HLA-DRB1,S100A4,ZNF502,ZFP28,SLC2A10,ZNF560,ZNF667,PEG3,TPM2,HLA-DRB5,LAYN, POU5F1,ZNF726,ANKRD65,ZNF737,ZNF578,SLC22A31,TCF24
GO:0016765	transferase activity, transferring alkyl or aryl (other than methyl) groups	1.475366347	0.0334683	GSTM1,GSTM4
GO:0016887	ATPase activity	1.459248951	0.0347337	RFC2,ATP2A3,TNNT2,ABCG2,ATP8B3,ACTC1
GO:0016874	ligase activity	1.406285389	0.0392387	RFC2,ACSS3,TRIM38,SLC27A6,SH3RF2,RNF212
GO:0015979	photosynthesis	1.387345392	0.0409878	RFC2
GO:0005615	extracellular space	1.320715681	0.0477842	ACPP,ENO3,ADGRE5,AGT,TINAGL1,ACTA1,ACTC1,CYTL1,SERPINA5,S100A13,S100A4

Up-regulated genes in WS compared to TD in neurons
GO TERM	GO Description	−Log(p-value)	P-value	Genes
GO:0001071	nucleic acid binding transcription factor activity	2.409059017	0.00389889	PITX1,TFAP2C,HAND1,NR5A2,IRF6,ZSCAN10,KLF4,ALX1,DMBX1,FOXB2
GO:0008233	peptidase activity	1.531733923	0.0293945	HPN,PRSS16,RHBDF2,ADAMTS16,USP41,TMPRSS2
GO:0009790	embryo development	1.354676981	0.0441899	HPN,HAND1,NR5A2,KLF4
GO:0006091	generation of precursor metabolites and energy	1.330439536	0.0467262	ALDOC,MT-ND2,MT-ND4,MT-ND1
GO:0048856	anatomical structure development	1.312454095	0.0487019	PITX1,TFAP2C,HPN,ALDOC,HAND1,NR5A2,IRF6,ZSCAN10,KLF4,PRDM14,BMP6,ISL2,PROK2,PHOSPHO1,ALX1,DMBX1