Table 11.
Imprinted genes | Status | Expressed allele | LiPSC-ER2.2 | LiPSC-GR1.1 | ||||||
---|---|---|---|---|---|---|---|---|---|---|
Allelic depth | SNP-HET | INS-HET | DEL-HET | Allelic depth | SNP-HET | INS-HET | DEL-HET | |||
ABCC9 | Predicted | Maternal | 27.4 | 50 | 2 | 3 | 26.0 | 54 | 5 | 5 |
ABCG8 | Predicted | Maternal | 27.0 | 73 | 4 | 5 | 25.8 | 65 | 3 | 3 |
ACD | Predicted | Maternal | 26.5 | 2 | 23.0 | 1 | ||||
ADAMTS16 | Predicted | Maternal | 28.0 | 254 | 20 | 23 | 26.0 | 319 | 20 | 24 |
AIM1 | Imprinted | Paternal | 29.3 | 82 | 4 | 10 | 23.4 | 54 | 4 | |
ALDH1L1 | Predicted | Maternal | 25.5 | 148 | 3 | 9 | 25.9 | 47 | 6 | 6 |
ANO1 | Imprinted | Maternal | 22.8 | 42 | 1 | 2 | 26.0 | 1 | ||
APBA1 | Predicted | Paternal | 29.0 | 118 | 8 | 11 | 27.5 | 8 | 4 | |
ATP10A | Imprinted | Maternal | 25.3 | 256 | 12 | 18 | 24.0 | 203 | 10 | 20 |
B4GALNT4 | Predicted | Maternal | 24.3 | 17 | 2 | 1 | 23.4 | 21 | 3 | 1 |
BLCAP | Imprinted | Isoform Dependent | 23.8 | 12 | 5 | 26.5 | 4 | 3 | 1 | |
BMP8B | Predicted | Paternal | 23.4 | 3 | 22.4 | 10 | 2 | |||
BTNL2 | Predicted | Maternal | 27.8 | 34 | 2 | 3 | 25.5 | 80 | 4 | 6 |
C10orf91 | Predicted | Maternal | 25.5 | 1 | 35.0 | |||||
C20orf20 | Predicted | Maternal | 25.4 | 14 | 1 | 2 | 27.8 | 14 | 1 | 2 |
C9orf116 | Predicted | Paternal | 18.9 | |||||||
C9orf85 | Predicted | Paternal | 27.9 | 3 | 26.8 | |||||
CCDC85A | Predicted | Paternal | 27.1 | 245 | 19 | 14 | ||||
CDH18 | Predicted | Paternal | 28.3 | 893 | 83 | 94 | 25.6 | 244 | 28 | 29 |
CDK4 | Predicted | Maternal | 24.3 | 1 | 2 | 21.8 | 3 | 1 | ||
CDKN1C | Imprinted | Maternal | 27.0 | 1 | 15.0 | |||||
CHMP2A | Predicted | Maternal | 31.0 | 1 | 23.5 | 4 | ||||
CHST8 | Predicted | Maternal | 24.3 | 96 | 4 | 6 | 25.1 | 121 | 8 | 8 |
COL9A3 | Predicted | Maternal | 23.1 | 50 | 2 | 2 | 21.9 | 34 | 6 | |
CPA4 | Imprinted | Maternal | 25.9 | 2 | 22.5 | 8 | 1 | 1 | ||
CSF2 | Predicted | Maternal | 19.0 | 1 | 27.0 | |||||
CYP1B1 | Predicted | Paternal | 26.1 | 1 | 28.4 | 9 | 2 | |||
DDC | Imprinted | Isoform Dependent | 26.3 | 190 | 11 | 9 | 25.6 | 138 | 5 | 8 |
DGCR6 | Imprinted | Random | 23.2 | 2 | 24.1 | 8 | 1 | |||
DGCR6L | Imprinted | Random | 22.6 | 22.1 | 6 | 1 | ||||
DIRAS3 | Imprinted | Paternal | 15.0 | 1 | ||||||
DLGAP2 | Imprinted | Paternal | 25.7 | 4 | 2 | 24.8 | 21 | 2 | 1 | |
DLK1 | Imprinted | Paternal | 20.4 | 9 | 1 | 21.7 | ||||
DLX5 | Imprinted | Maternal | 25.3 | 1 | 1 | 1 | 23.7 | 1 | 1 | |
DNMT1 | Imprinted | Paternal | 23.2 | 36 | 1 | 9 | 23.0 | 50 | 3 | 5 |
DVL1 | Predicted | Maternal | 26.3 | 1 | 1 | 23.6 | 3 | 1 | ||
E2F7 | Predicted | Maternal | 30.2 | 28 | 29.6 | 23 | 1 | |||
EGFL7 | Predicted | Paternal | 21.2 | 1 | 22.1 | 23 | ||||
EVX1 | Predicted | Paternal | 24.0 | |||||||
FAM50B | Imprinted | Paternal | 31.0 | 1 | 25.0 | 1 | ||||
FBRSL1 | Predicted | Maternal | 23.7 | 128 | 7 | 8 | 20.5 | 10 | 3 | |
FERMT2 | Predicted | Paternal | 29.0 | 6 | 28.2 | 86 | 11 | 3 | ||
FGFRL1 | Predicted | Maternal | 21.6 | 19 | 1 | 2 | 22.9 | 17 | 4 | 2 |
FOXF1 | Predicted | Maternal | 18.6 | 2 | 1 | 1 | 22.5 | 1 | ||
FOXG1 | Predicted | Paternal | 27.8 | 54 | 4 | 25.0 | ||||
FUCA1 | Predicted | Paternal | 27.7 | 1 | ||||||
GAREM | Predicted | Paternal | 27.9 | 36 | 4 | 3 | ||||
GATA3 | Predicted | Paternal | 24.3 | 28 | 4 | 1 | 21.0 | 9 | 1 | |
GDAP1L1 | Imprinted | Paternal | 27.0 | 3 | 1 | 24.3 | 2 | 1 | ||
GFI1 | Predicted | Paternal | 26.0 | 9 | 2 | 23.4 | 10 | 3 | ||
GLI3 | Predicted | Maternal | 27.8 | 234 | 19 | 16 | 25.5 | 299 | 21 | 18 |
GLIS3 | Imprinted | Paternal | 26.3 | 517 | 22 | 36 | 25.5 | 611 | 25 | 37 |
GNAS | Imprinted | Isoform Dependent | 28.0 | 68 | 8 | 4 | 26.8 | 32 | 2 | 4 |
GPT | Predicted | Maternal | 15.0 | 1 | 20.5 | |||||
GRB10 | Imprinted | Isoform Dependent | 27.1 | 246 | 13 | 20 | 24.9 | 180 | 10 | 9 |
H19 | Imprinted | Maternal | 21.5 | 6 | 22.2 | 6 | ||||
HOXA11 | Predicted | Maternal | 23.1 | 4 | 1 | 24.8 | 1 | |||
HOXA2 | Predicted | Maternal | 31.0 | 19.5 | 1 | |||||
HOXA3 | Predicted | Maternal | 26.5 | 5 | 3 | 1 | 22.7 | 11 | 2 | 1 |
HOXA4 | Predicted | Maternal | 21.0 | 25.0 | ||||||
HOXA5 | Predicted | Maternal | 19.0 | 37.0 | 2 | |||||
HOXB2 | Predicted | Maternal | 25.2 | 3 | 1 | 1 | 27.5 | |||
HOXB3 | Predicted | Maternal | 25.2 | 15 | 1 | 2 | 22.9 | 7 | ||
HOXC4 | Predicted | Maternal | 26.3 | 13 | 6 | 5 | 24.1 | 24 | 1 | 8 |
HOXC9 | Predicted | Maternal | 23.3 | 4 | 21.0 | 1 | ||||
HSPA6 | Predicted | Maternal | 23.5 | 1 | 23.8 | 4 | ||||
HYMAI | Imprinted | Paternal | 27.0 | 21.5 | 2 | 1 | ||||
IFITM1 | Predicted | Maternal | 24.5 | 1 | 13.0 | |||||
IGF2 | Imprinted | Paternal | 21.8 | 1 | 2 | 22.1 | 20 | 4 | ||
ISM1 | Predicted | Paternal | 26.8 | 121 | 5 | 13 | 25.5 | 48 | 4 | 5 |
KBTBD3 | Predicted | Paternal | 31.8 | 5 | 1 | 29.5 | 2 | 1 | ||
KCNK9 | Imprinted | Maternal | 24.1 | 135 | 5 | 4 | 23.0 | 38 | 1 | 3 |
KCNQ1 | Imprinted | Maternal | 25.7 | 343 | 13 | 25 | 23.6 | 212 | 11 | 11 |
KCNQ1DN | Imprinted | Maternal | 14.0 | 1 | 21.0 | |||||
KLF14 | Imprinted | Maternal | 21.7 | 2 | 18.4 | 3 | ||||
L3MBTL | Imprinted | Paternal | 25.2 | 2 | 21.5 | 14 | ||||
LDB1 | Predicted | Maternal | 22.0 | 4 | 21.8 | 1 | 1 | |||
LILRB4 | Predicted | Maternal | 21.4 | 7 | 21.4 | 7 | 1 | |||
LIN28B | Imprinted | Paternal | 26.9 | 17 | 1 | 5 | 27.6 | 48 | 3 | 4 |
LMX1B | Predicted | Maternal | 24.0 | 68 | 8 | 5 | 24.1 | 53 | 1 | 3 |
LRRTM1 | Imprinted | Paternal | 15.5 | 1 | ||||||
LY6D | Predicted | Paternal | 27.3 | 3 | 1 | 25.0 | ||||
MAGEL2 | Imprinted | Paternal | 33.5 | 2 | ||||||
MAGI2 | Imprinted | Maternal | 29.4 | 1035 | 78 | 79 | 27.4 | 1485 | 120 | 112 |
MEG3 | Imprinted | Maternal | 22.1 | 21 | 2 | 3 | 21.7 | 24 | 1 | |
MEG8 | Imprinted | Maternal | 21.1 | 2 | 19.7 | 6 | ||||
MEST | Imprinted | Paternal | 26.3 | 9 | 26.4 | 16 | 1 | |||
MESTIT1 | Imprinted | Paternal | 29.5 | 2 | 23.0 | 1 | ||||
MIMT1 | Imprinted | Paternal | 27.0 | 28.2 | ||||||
MYEOV2 | Predicted | Paternal | 23.7 | 16 | 1 | 21.5 | ||||
MZF1 | Predicted | Maternal | 23.8 | 4 | 24.7 | 12 | 1 | |||
NAA60 | Imprinted | Maternal | 24.0 | 10 | 1 | 23.5 | ||||
NAP1L5 | Imprinted | Paternal | 25.5 | 1 | 1 | |||||
NDN | Imprinted | Paternal | 26.0 | 1 | 22.0 | 1 | ||||
NKAIN3 | Predicted | Paternal | 27.2 | 539 | 28 | 35 | 25.9 | 924 | 69 | 53 |
NKX6-2 | Predicted | Maternal | 19.0 | |||||||
NLRP2 | Imprinted | Maternal | 22.5 | 62 | 5 | 4 | 20.5 | 39 | 5 | |
NPAP1 | Imprinted | Unknown | 25.0 | 1 | 1 | 24.0 | ||||
NTM | Imprinted | Maternal | 28.2 | 793 | 53 | 68 | 25.9 | 585 | 49 | 49 |
OBSCN | Predicted | Paternal | 25.2 | 160 | 7 | 7 | 23.7 | 169 | 10 | 6 |
OR11L1 | Predicted | Paternal | 24.7 | 23.4 | ||||||
OSBPL5 | Imprinted | Maternal | 23.8 | 115 | 9 | 9 | 22.4 | 89 | 4 | 4 |
OTX1 | Predicted | Maternal | 21.8 | 4 | 20.7 | 3 | ||||
PAOX | Predicted | Maternal | 25.8 | 6 | 1 | 21.2 | 2 | 1 | ||
PEG10 | Imprinted | Paternal | 34.6 | 2 | 1 | 27.0 | 4 | |||
PEG3 | Imprinted | Paternal | 25.4 | 1 | 23.7 | 2 | ||||
PEX10 | Predicted | Maternal | 19.8 | 8 | 1 | 19.5 | 12 | |||
PHLDA2 | Imprinted | Maternal | 16.0 | 1 | ||||||
PHPT1 | Predicted | Maternal | 21.5 | |||||||
PLAGL1 | Imprinted | Paternal | 28.2 | 29 | 3 | 4 | 26.6 | 13 | 2 | 1 |
PPAP2C | Predicted | Maternal | 18.3 | 16 | 1 | 26.3 | 276 | 16 | 26 | |
PPP1R9A | Imprinted | Maternal | 26.5 | 71 | 4 | 9 | 22.1 | 12 | 2 | |
PRDM16 | Predicted | Paternal | 21.8 | 231 | 10 | 17 | 21.7 | 382 | 10 | 19 |
PTPN14 | Predicted | Maternal | 27.0 | 10 | 2 | 3 | 27.3 | 55 | 4 | 6 |
PURG | Predicted | Paternal | 28.2 | 26.8 | 20 | 3 | 2 | |||
PYY2 | Predicted | Paternal | 31.0 | 1 | ||||||
RAB1B | Predicted | Maternal | 25.1 | 7 | 2 | 2 | 23.7 | 3 | 1 | |
RB1 | Imprinted | Maternal | 26.9 | 52 | 7 | 9 | 26.2 | 11 | 1 | 1 |
RBP5 | Imprinted | Maternal | 32.0 | 1 | 1 | 18.8 | 1 | 1 | ||
RPL22 | Predicted | Paternal | 31.9 | 7 | 26.0 | 1 | ||||
RTL1 | Imprinted | Paternal | 20.3 | 3 | 22.0 | 1 | ||||
SALL1 | Predicted | Maternal | 26.9 | 2 | 2 | 23.3 | 5 | 3 | 1 | |
SGCE | Imprinted | Paternal | 30.3 | 18 | 3 | 2 | 28.8 | 17 | 3 | 1 |
SGK2 | Imprinted | Paternal | 23.3 | 6 | 1 | 1 | 25.1 | 18 | 2 | 1 |
SIM2 | Predicted | Paternal | 26.9 | 28 | 3 | 2 | 24.2 | 16 | 1 | |
SLC22A18 | Imprinted | Maternal | 22.8 | 29 | 3 | |||||
SLC22A18AS | Provisional Data | Maternal | 22.3 | 56 | 4 | 1 | ||||
SLC22A2 | Imprinted | Maternal | 28.9 | 5 | 1 | 25.8 | 4 | |||
SLC22A3 | Imprinted | Maternal | 27.0 | 82 | 2 | 8 | 26.8 | 119 | 2 | 7 |
SLC26A10 | Predicted | Maternal | 27.0 | 1 | 25.7 | 2 | ||||
SLC4A2 | Predicted | Maternal | 21.6 | 1 | 23.2 | 9 | ||||
SNRPN | Imprinted | Paternal | 24.9 | 117 | 15 | 13 | 24.3 | 156 | 9 | 18 |
SNURF | Imprinted | Paternal | 25.7 | 13 | 2 | 2 | ||||
SOX8 | Predicted | Paternal | 19.1 | 10 | 20.9 | 1 | ||||
SPON2 | Predicted | Paternal | 21.7 | 30 | 2 | 22.3 | 1 | 1 | ||
TCEB3C | Imprinted | Maternal | 73.0 | 1 | ||||||
TFPI2 | Imprinted | Maternal | 24.0 | |||||||
TIGD1 | Predicted | Paternal | 28.4 | 7 | 25.6 | 7 | ||||
TMEM52 | Predicted | Paternal | 24.7 | 2 | 1 | 16.0 | ||||
TMEM60 | Predicted | Paternal | 29.0 | 3 | 28.3 | 1 | ||||
TP73 | Imprinted | Maternal | 23.6 | 73 | 4 | 5 | 23.0 | 93 | 3 | 7 |
TSHZ3 | Predicted | Paternal | 26.6 | 34 | 4 | 8 | 24.7 | 77 | 7 | 10 |
UBE3A | Imprinted | Maternal | 28.3 | 11 | 1 | 2 | 26.6 | 105 | 7 | 10 |
VAX2 | Predicted | Maternal | 28.0 | 27 | 2 | 4 | 24.7 | 14 | 3 | 2 |
VENTX | Predicted | Maternal | 25.0 | 1 | 24.0 | 12 | ||||
WT1 | Imprinted | Paternal | 28.3 | 53 | 4 | 2 | 24.9 | 9 | 1 | 3 |
ZC3H12C | Imprinted | Paternal | 28.0 | 106 | 7 | 11 | 26.9 | 102 | 9 | 18 |
ZDBF2 | Imprinted | Paternal | 28.4 | 10 | 2 | 29.8 | 7 | |||
ZFAT | Imprinted | Paternal | 24.1 | 2 | 1 | 23.1 | 268 | 9 | 16 | |
ZFAT-AS1 | Imprinted | Paternal | 28.6 | 7 | ||||||
ZFP36L2 | Predicted | Maternal | 21.0 | 1 | 1 | 15.0 | 1 | |||
ZIC1 | Predicted | Maternal | 37.7 | 2 | 1 | 30.7 | 2 | 1 | ||
ZIM2 | Imprinted | Paternal | 26.0 | 1 | 23.8 | 14 | ||||
ZNF225 | Predicted | Paternal | 22.1 | 25.4 | 1 | |||||
ZNF229 | Predicted | Maternal | 27.5 | 4 | 2 | 25.8 | 22 | 5 | ||
ZNF264 | Unknown | Unknown | 27.1 | 34 | 5 | 2 | 25.2 | 30 | 1 | 4 |
ZNF597 | Imprinted | Maternal | 33.0 | 1 | 1 | 24.8 | 1 |
For each cell line the mean depth of the alternate allele, the number of heterozygous and homozygous variants identified from WGS is provided