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Table 2 Nineteen rare copy number variants identified in patients with heterotaxy

From: Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects

ID Chromosome Genomic coordinates Type Size (kbp) Genes altered
5 4q24 104,554,264–105,123,728 Internal dup 569.464 TACR3
5 6p22.2 26,019,198–26,227,973 Genic dup 208.775 HIST1H3A, HIST1H4A, HIST1H4B, HIST1H3B, HIST1H2AB, HIST1H2BB, HIST1H3C, HIST1H1C, HFE, HIST1H4C, HIST1H1T, HIST1H2BC, HIST1H2AC, HIST1H1E, HIST1H2BD, HIST1H2BE, HIST1H4D, HIST1H3D, HIST1H2AD, HIST1H2BF, HIST1H4E, HIST1H2BG, HIST1H2AE, HIST1H3E
7 1q21.1 145,625,128–145,927,662 Genic del 302.534 RNF115 , CD160, PDZK1, GPR89A, GPR89C, PDZK1P1
10 5q23.1 115,247,380–115,683,172 Genic dup 435.792 AP3S1, AQPEP, LOC644100, COMMD10
16 6p12.1 54,138,106–54,277,341 Genic dup 139.235 TINAG
18 12p13.33 173,786–356,461 Genic dup 182.675 IQSEC3, LOC574538, SLC6A12, SLC6A13
20 12q24.31 123,357,010–124,310,519 Genic dup 953.509 VPS37B, ABCB9, OGFOD2, ARL6IP4, PITPNM2, MIR4304, LOC100507091, MPHOSPH9, C12orf65, CDK2AP1, SBNO1, SETD8, RILPL2, SNRNP35, RILPL1, MIR3908, TMED2, DDX55, EIF2B1, GTF2H3, TCTN2 , ATP6V0A2, DNAH10
20 19q13.32 47,308,130–47,418,258 Genic dup 110.128 SNAR-E, AP2S1
26 11q12.2 60,408,411–60,465,698 Genic del 57.287 LINC00301
31 10p15.1 6,254,055–6,374,584 Internal dup 120.529 PFKFB3, LOC399715
34 4q22.2 93,875,432–93,988,049 Genic del 112.617 GRID2
39 8q11.1q11.21 47,398,661–48,407,568 Genic dup 1008.907 LINC00293, LOC100287846, KIAA0146
40 14q24.2 73,620,299–73,786,493 Genic dup 166.194 PSEN1, PAPLN, NUMB
43 4q24 101,476,709–101,668,938 Genic del 192.229 EMCN-IT3
59 2q24.1 157,170,397–157,315,649 Internal dup 145.252 NR4A2, GPD2
59 6q26 163,549,870–163,842,358 Genic dup 292.488 PACRG , PACRG-AS1, DKFZp451B082, CAHM, QKI
59 9p22.2 16,826,417–16,931,236 Internal dup 104.819 BNC2
63 3q25.32 158,198,274–158,256,949 Genic del 58.675 RSRC1
63 10q26.3 134,358,785–134,921,135 Genic dup 562.35 INPP5A, NKX6–2, TTC40 , LOC399829, GPR123
  1. Bold items are candidate genes we identified from rare CNVs
  2. Genic del deletion of at least one coding exon, Genic dup full duplication of at least one gene, Internal dup duplication of internal exons