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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