Table 4; online only:
Summary of copy number variation for subjects with HLHS hosting copy number variants of unknown significance
| Subject | CNV | Genes | ||
|---|---|---|---|---|
| 1 | Xp22.13p22.12 | Gain, Gain |
MTTP, PHKA2, GPR64, PDHA1, MAP3K15 |
|
| 2 | 9p21.3 | Gain | none | |
| 3 | 4q25 | Loss | PAPSS1 | |
| 4 | 8p23.1 | Gain | GATA4, NEIL2, FDFT1, CTSB | |
| 5 | 7q21.11 | Gain | PHTF2, MAGI2, RPL13AP17 | |
| 6 | 22q13.2 | Gain |
BIK, MCAT, TSPO, TTLL12, SCUBE1 |
|
| 7 | 1p36.33 | Gain | PRKCZ, C1orf86, LOC100128003, | |
| SKI | ||||
| 8 | Xq21.31 | Loss | CPXCR1 | |
| 9 | 16q24.2 | Gain | ZNF469, ZFPM1 | |
| 10 | Xq28 | Gain | TMLHE | |
| 11 | 1q21.1q21.2 | Gain |
PRKAB2, PDIA3P, FMO5, CHD1L, LOC100289211, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, NBPF11, NBPF24 |
|
| 12 | 15q13.3 | Gain | CHRNA7 | |
| 13 | 20q12q13.11 | Loss | PTPRT | |
| 14 | 15q11.2 | Loss | TUBGCP5, CYFIP1, NIPA2, NIPA1 | |
| 15 | 6p25.3 | Gain | LOC285768 | |
| 16 | 2p21 | Gain | CALM2 | |
| 17 | 1q21.1 | Gain |
SEC22B, NOTCH2NL, NBPF10, HFE2, TXNIP, POLR3GL, RBM8A, GNRHR2, PEX11B, ITGA10, ANKRD34A, LIX1L, ANKRD35, PIAS3, NUDT17, POLR3C, RNF115, CD160, PDZK1 |
|
| 18 | 2p13.1p12 | Gain | SEMA4F, HK2, POLE4, TACR1 | |
| 19 | 17q23.2 | Loss | PPM1D | |
| 20 | 6q23.3 | Loss | AHI1 | |
| 21 | 7q21.13 | Gain | ZNF804B, C7orf62, DPY19L2P4, | |
| 22 | 5p13.2 | Loss | IL7R | |
| 23 | 9p24.3 | Loss | DOCK8 | |
| 24 | 6q25.1 | Loss | PLEKHG1 | |
| 25 | 16q22.1 | Loss | PDXDC2, PDPR | |
| 26 | 6q24.2q25.3 | Absence of | EPM2A, LOC100507557, FBXO30, | |
| Heterozygosity |
SHPRH, GRM1, RAB32, C6orf103, LOC729176, LOC729178, STXBP5, SAMD5, SASH1, UST, LOC100128176, TAB2, SUMO4, ZC3H12D, PPIL4, C6orf72, KATNA1, LATS1, NUP43, PCMT1, LRP11, RAET1E, RAET1G, ULBP2, ULBP1, RAET1K, RAET1L, ULBP3,PPP1R14C, IYD, PLEKHG1, MTHFD1L, AKAP12, ZBTB2, RMND1, C6orf211, C6orf97, ESR1, SYNE1,MYCT1, VIP, FBXO5, MTRF1L, RGS17, OPRM1, IPCEF1, CNKSR3. |
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