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Table 2 Fusion genes (50) detected in the MNTI by FusionCatcher analysis of RNA-Seq data

From: A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: a case report

Fusion gene

Location of 5’ partner

Location of 3’ partner

Cause of fusion

RPLP1-C19MC

15:69745292:+

19:54278860:+

Balanced chromosomal translocation

C19MC-RPLP1

19:54278886:+

15:69745266:+

Balanced chromosomal translocation (reciprocal fusion)

RP11-386 M24.4-H2AFV

15:93276847:-

7:44873962:-

Balanced chromosomal translocation

H2AFV-RP11-386 M24.4

7:44875191:-

15:93277223:-

Balanced chromosomal translocation (reciprocal fusion)

TRA@-RBBP4

14:22032433:+

1:33133924:+

Balanced chromosomal translocation

RBBP4-TRA@

1:33146113:+

14:22034317:+

Balanced chromosomal translocation (reciprocal fusion)

COL1A1-DES

17:48261671:-

2:220290692:+

Chromosomal translocation

COL1A1-SCARB2

17:48262192:-

4:77109675:-

Chromosomal translocation

COL1A1-PLTP

17:48264070:-

20:44537829:-

Chromosomal translocation

COL1A1-TRIOBP

17:48264212:-

22:38126504:+

Chromosomal translocation

COL3A1-COL18A1

2:189851865:+

21:46925141:+

Chromosomal translocation

COL3A1-FAT1

2:189871155:+

4:187561585:-

Chromosomal translocation

COL3A1-CD81

2:189871176:+

11:2411930:+

Chromosomal translocation

COL3A1-ATP5B

2:189873714:+

12:57037364:-

Chromosomal translocation

COL3A1-LRP1

2:189876968:+

12:57597641:+

Chromosomal translocation

CTSB-COL3A1

8:11703238:-

2:189873743:+

Chromosomal translocation

DDOST-ELMOD1

1:20978357:-

11:107525369:+

Chromosomal translocation

EEF2-TAGLN2

19:3982389:-

1:159888278:-

Chromosomal translocation

IGK@-LL22NC03-2H8.5

2:90296180:+

22:22640524:-

Chromosomal translocation

PINK1-AS-ELMOD1

1:20978357:-

11:107525369:+

Chromosomal translocation

PPP2R5C-RP11-168 J18.6

14:102375968:+

3:52408668:+

Chromosomal translocation

SERPINF1-SPARC

17:1680627:+

5:151044730:-

Chromosomal translocation

TAF1C-COL1A1

16:84218540:-

17:48268811:-

Chromosomal translocation

TSIX-COL1A2

X:73020413:+

7:94060360:+

Chromosomal translocation

COL3A1-CHPF

2:189860508:+

2:220404337:-

Intra-chromosomal deletion

FBXL18-TNRC18

7:5530862:-

7:5434226:-

Intra-chromosomal deletion

LSP1-TNNT3

11:1908806:+

11:1944087:+

Intra-chromosomal deletion

SMC5-AS1-MAMDC2-AS1

9:72831202:-

9:72703410:-

Intra-chromosomal deletion

TFDP2-XRN1

3:141820577:-

3:142084208:-

Intra-chromosomal deletion

TPST1-GS1-124 K5.4

7:65751696:+

7:65960242:+

Intra-chromosomal deletion

ARMC9-AC017104.6

2:232234836:+

2:232258192:+

Read-through transcript

BCKDK-KAT8

16:31123348:+

16:31128784:+

Read-through transcript

C17ORF107-GP1BA

17:4902763:+

17:4934342:+

Read-through transcript

C1GALT1-AC005532.5

7:7283381:+

7:7317216:+

Read-through transcript

CD4-P3H3

12:6925379:+

12:6938651:+

Read-through transcript

CHD4-NOP2

12:6680035:-

12:6677088:-

Read-through transcript

EIF3K-ACTN4

19:39116742:+

19:39191240:+

Read-through transcript

FAM89B-EHBP1L1

11:65341233:+

11:65346549:+

Read-through transcript

GPR141-NME8

7:37725186:+

7:37896876:+

Read-through transcript

GPX7-FAM159A

1:53072617:+

1:53108535:+

Read-through transcript

HEPHL1-PANX1

11:93800909:+

11:93862494:+

Read-through transcript

LMO1-RIC3

11:8248522:-

11:8174970:-

Read-through transcript

LMO7-AS1-COMMD6

13:76209965:-

13:76123565:-

Read-through transcript

NPTXR-DNAL4

22:39219088:-

22:39177014:-

Read-through transcript

RFPL1-NEFH

22:29838118:+

22:29876241:+

Read-through transcript

SIX3-AC012354.6

2:45171866:+

2:45193557:+

Read-through transcript

SLC25A43-SLC25A5

X:118544325:+

X:118602415:+

Read-through transcript

SSSCA1-EHBP1L1

11:65341233:+

11:65346549:+

Read-through transcript

TBC1D23-NIT2

3:100039815:+

3:100057931:+

Read-through transcript

TMEM101-PYY

17:42100940:-

17:42043900:-

Read-through transcript

VPS45-PLEKHO1

1:150082742:+

1:150123102:+

Read-through transcript

ZCWPW2-LINC00693

3:28562607:+

3:28616561:+

Read-through transcript

ZNF836-ZNF616

19:52663718:-

19:52633841:-

Read-through transcript

  1. Location of fusion points is given as: chromosome : genomic coordinates : strand. Where FusionCatcher has returned multiple fusion point coordinates, the location with the most unique spanning reads is listed. Reciprocal fusions, indicative of balanced chromosomal translocations, were detected for three fusion genes (C19MC-RPLP1, H2AFV-RP11-386 M24 and RBBP4-TRA@). Two fusion genes reported by FusionCatcher as being ‘probable false positives’ have been excluded