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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.