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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