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Table 2 Characterization of Barnacle ITD predictions in A08823 and A08878

From: Barnacle: detecting and characterizing tandem duplications and fusions in transcriptome assemblies

  Gene(s) Exon(s)1 Dataset Length (nt)2,3 Repeat Expansion? Concordant dbSNP v135 ID(s)
6 ACADVL e1 A08823 15 (IF) No rs66549614, rs3835013, rs6145976
7 ACIN1 e6 both 6 (IF) Yes rs34293824, rs5807202, rs34870944, rs78930189,rs3077646
8 AKAP2 e2 A08878 6 (IF) Yes rs77728978
9 DNHD1 e21 A08878 11 + 1 (IF) No rs11270441, rs35685553, rs11268490, rs35369957
10 FLT3 e14 A08823 48 (IF) No none
11 FLT3 e14 A08878 42 + 3 (IF) No none
12 FOXP1 3′-utr A08878 6 (IF) No rs67554413
13 HSPBP1 e3 A08878 9 (IF) Yes rs3040014, rs71743637, rs10701478, rs71927276
14 KIAA1211 e8 A08823 15 + 3 (IF) Yes rs71921617, rs11276076, rs67121617
15 MRPS34 e1,i1 A08823 4 (FS4) No rs4027362, rs33993627,rs34595082
16 PIEZO1 e32 A08878 6 (IF) Yes rs11281795, rs71707279
17 SND1 e1 A08823 21 (IF) No none
18 SSPO e74 A08878 5 (FS) Yes none
  1. 1 Exon numbers are from hg19 UCSC gene annotations.
  2. 2 Length is given as either “duplication length” or “duplication length + insertion length”, when extra sequence occurs between the two copies of the duplicated sequence.
  3. 3 IF: in-frame, FS: frame-shift.
  4. 4 Event involves retention of a 152-nt intron adjacent to the duplication and is in-frame when this intron is considered as well.