Table 4. Developmental and neurological diseases significantly associated with dysregulated genes with LINE-1 insertion predicted via IPA.

Diseases	P-value	Genes (n)	Gene symbol
Autism or intellectual disability	7.05E-06	25	ADNP, ADRA1A, ARID1A, CAMTA1, CDC42, CREBBP, CSNK2A1, DYRK1A, ELOVL4, EP300, GNB1, GNB5, GRIK2, HERC1, NRP2, PTEN, RNF125, SMARCA2, SON, ST3GAL3, SYNE1, TRIO, WASHC4, YY1, ZBTB16
Familial mental retardation	4.61E-06	22	ADNP, ADRA1A, ARID1A, CAMTA1, CDC42, CREBBP, CSNK2A1, DYRK1A, ELOVL4, EP300, GNB1, GNB5, GRIK2, HERC1, RNF125, SMARCA2, SON, ST3GAL3, TRIO, WASHC4, YY1, ZBTB16
Mental retardation	5.75E-06	24	ADNP, ADRA1A, ARID1A, CAMTA1, CDC42, CREBBP, CSNK2A1, DYRK1A, ELOVL4, EP300, GNB1, GNB5, GRIK2, HERC1, NRP2, RNF125, SMARCA2, SON, ST3GAL3, SYNE1, TRIO, WASHC4, YY1, ZBTB16
Neurodevelopmental disorder	3.96E-03	7	ADRA1A, AHNAK, ASXL2, CREBBP, ESR1, HECW2, NF1
Cognitive impairment	5.01E-06	27	ADNP, ADRA1A, ARID1A, BCL2, CAMTA1, CDC42, CREBBP, CSNK2A1, DYRK1A, ELOVL4, EP300, ESR1, GNB1, GNB5, GRIK2, HECW2, HERC1, NRP2, RNF125, SMARCA2, SON, ST3GAL3, SYNE1, TRIO, WASHC4, YY1, ZBTB16
Early-onset neurological disorder	4.27E-03	9	ADRA1A, GNAO1, GRIK2, HGF, ITGA6, MYH9, OTOF, SPTAN1, ST3GAL3
Brain lesion	1.50E-03	35	ADRA1A, ANXA7, ARID1A, CBL, CD44, CREBBP, CTBP2, DICER1, EP300, EPHA1, EPHA8, ESR1, HDAC3, HERC1, HGF, LRIG2, LYST, MAML3, NF1, NRP2, PABPC1, PDPK1, PRKCH, PTEN, PTPN11, RECK, SAP130, SON, SYNE1, TERF2, TOP1, TRIM33, TRIP11, ZCCHC6, ZNF91
Neuromuscular disease	1.02E-03	35	ADAMTSL1, ADRA1A, ALCAM, ATP2A2, ATXN1, BCL2, CANX, CD44, CSN3, DCK, ESR1, GNAO1, GNB5, GPR107, GRIK2, ICA1, IFNAR2, MBP, MBTPS1, NOTCH2, OSBPL8, PPP3CB, PTPN3, PTPRC, PTPRE, RUNX3, SPAG16, SSX2IP, ST8SIA4, TLR2, TRIO, VDR, WNK1, XRCC6, ZBTB16

The differentially expressed genes with LINE-1 insertion that were identified in multiple studies were employed for IPA analysis. P-values calculated by Fisher’s exact test and the number of genes for each function are shown.