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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:RNF121-VASP (FusionGDB2 ID:74281)

Fusion Gene Summary for RNF121-VASP

Fusion gene summary

Fusion gene information	Fusion gene name: RNF121-VASP
	Fusion gene ID: 74281
		Hgene	Tgene
	Gene symbol	RNF121	VASP
	Gene ID	55298	7408
	Gene name	ring finger protein 121	vasodilator stimulated phosphoprotein
	Synonyms	-	-
	Cytomap	11q13.4	19q13.32
	Type of gene	protein-coding	protein-coding
	Description	RING finger protein 121	vasodilator-stimulated phosphoprotein
	Modification date	20200313	20200327
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000361756, ENST00000533380, ENST00000393713, ENST00000490867, ENST00000545854, ENST00000530137,	ENST00000245932, ENST00000586619,
Fusion gene scores	* DoF score	22 X 8 X 11=1936	6 X 5 X 5=150
	# samples	27	6
	** MAII score	log2(27/1936*10)=-2.84204764022376 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: RNF121 [Title/Abstract] AND VASP [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	RNF121(71668310)-VASP(46020921), # samples:2
Anticipated loss of major functional domain due to fusion event.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	VASP	GO:0030838	positive regulation of actin filament polymerization	23153535

Fusion gene breakpoints across RNF121 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across VASP (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	PRAD	TCGA-V1-A9OA-01A	RNF121	chr11	71668310	+	VASP	chr19	46020921	+
ChimerDB4	PRAD	TCGA-V1-A9OA-01A	RNF121	chr11	71668310	-	VASP	chr19	46020921	+

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Fusion Gene ORF analysis for RNF121-VASP

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
In-frame	ENST00000361756	ENST00000245932	RNF121	chr11	71668310	+	VASP	chr19	46020921	+
5CDS-3UTR	ENST00000361756	ENST00000586619	RNF121	chr11	71668310	+	VASP	chr19	46020921	+
intron-3CDS	ENST00000533380	ENST00000245932	RNF121	chr11	71668310	+	VASP	chr19	46020921	+
intron-3UTR	ENST00000533380	ENST00000586619	RNF121	chr11	71668310	+	VASP	chr19	46020921	+
intron-3CDS	ENST00000393713	ENST00000245932	RNF121	chr11	71668310	+	VASP	chr19	46020921	+
intron-3UTR	ENST00000393713	ENST00000586619	RNF121	chr11	71668310	+	VASP	chr19	46020921	+
3UTR-3CDS	ENST00000490867	ENST00000245932	RNF121	chr11	71668310	+	VASP	chr19	46020921	+
3UTR-3UTR	ENST00000490867	ENST00000586619	RNF121	chr11	71668310	+	VASP	chr19	46020921	+
intron-3CDS	ENST00000545854	ENST00000245932	RNF121	chr11	71668310	+	VASP	chr19	46020921	+
intron-3UTR	ENST00000545854	ENST00000586619	RNF121	chr11	71668310	+	VASP	chr19	46020921	+
intron-3CDS	ENST00000530137	ENST00000245932	RNF121	chr11	71668310	+	VASP	chr19	46020921	+
intron-3UTR	ENST00000530137	ENST00000586619	RNF121	chr11	71668310	+	VASP	chr19	46020921	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

ENST00000361756

RNF121

chr11

71668310

ENST00000245932

VASP

chr19

46020921

2406

462

319

1599

426

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000361756	ENST00000245932	RNF121	chr11	71668310	+	VASP	chr19	46020921	+	0.008812733	0.9911873

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Fusion Genomic Features for RNF121-VASP

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
RNF121	chr11	71668310	+	VASP	chr19	46020920	+	6.83E-07	0.9999993
RNF121	chr11	71668310	+	VASP	chr19	46020920	+	6.83E-07	0.9999993

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for RNF121-VASP

Go to
FGviewer for the breakpoints of chr11:71668310-chr19:46020921
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	.
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page

* Minus value of BPloci means that the break pointn is located before the CDS.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

337_373

1.6666666666666667

381.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

118_216

1.6666666666666667

381.0

Compositional bias

Note=Pro-rich

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

215_222

1.6666666666666667

381.0

Compositional bias

Note=Poly-Gly

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

259_262

1.6666666666666667

381.0

Compositional bias

Note=Poly-Gly

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

322_325

1.6666666666666667

381.0

Compositional bias

Note=Poly-Ser

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

2_113

1.6666666666666667

381.0

Domain

WH1

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

234_237

1.6666666666666667

381.0

Motif

Note=KLKR

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

225_245

1.6666666666666667

381.0

Region

Note=EVH2 block A

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

225_377

1.6666666666666667

381.0

Region

Note=EVH2

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

259_278

1.6666666666666667

381.0

Region

Note=EVH2 block B

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

343_377

1.6666666666666667

381.0

Region

Note=EVH2 block C

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

344_373

1.6666666666666667

381.0

Region

Note=2 X 15 AA tandem repeats of L-[EQ]-[KR]-[MV]-K-[EQ]-E-[IL]-[IL]-E-[AEV]-[FV]-[KRV]-[KQ]-E

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

344_358

1.6666666666666667

381.0

Repeat

Note=1

Tgene

VASP

chr11:71668310

chr19:46020921

ENST00000245932

359_373

1.6666666666666667

381.0

Repeat

Note=2

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

RNF121

chr11:71668310

chr19:46020921

ENST00000361756

100_120

33.666666666666664

328.0

Transmembrane

Helical

Hgene

RNF121

chr11:71668310

chr19:46020921

ENST00000361756

148_168

33.666666666666664

328.0

Transmembrane

Helical

Hgene

RNF121

chr11:71668310

chr19:46020921

ENST00000361756

172_192

33.666666666666664

328.0

Transmembrane

Helical

Hgene

RNF121

chr11:71668310

chr19:46020921

ENST00000361756

306_326

33.666666666666664

328.0

Transmembrane

Helical

Hgene

RNF121

chr11:71668310

chr19:46020921

ENST00000361756

50_70

33.666666666666664

328.0

Transmembrane

Helical

Hgene

RNF121

chr11:71668310

chr19:46020921

ENST00000361756

79_99

33.666666666666664

328.0

Transmembrane

Helical

Hgene

RNF121

chr11:71668310

chr19:46020921

ENST00000361756

226_276

33.666666666666664

328.0

Zinc finger

RING-type%3B atypical

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Fusion Gene Sequence for RNF121-VASP

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>In-frame_ENST00000361756_ENST00000245932_TCGA-V1-A9OA-01A_RNF121_chr11_71668310_+_VASP_chr19_46020921_length(transcript)=2406nt_BP=462nt
ACGTCTCGCTCCTTGGAGCCCAGACTGAGGGAGCGTCGCGAAAGTTGCCCGTTTTGGAACGCTCCCATTTGGCTCTCCAAAGGGAAGAAT
TGGTTAAATAGTTGCACTGAAAATAATGCGATTCAAATTTCTCATTTTCCAAGAACGCTCCCTTGCTGAAGCTTGCAAGGGCACGGTACT
CCCCTCTCCTTGACCCTGAAACGTGCAGCAAGTAGATAACCTCCTGATCCCTGACAGTCTCCGCCTGTGTTGATGCCCCGCCCCCTCTGC
TGGAGTCCGAGCCGCCGATTGGCTAGGAGCACTTGAGCAGCGGAAGCAGCTGGCTCGCGCGGGGACTGCGGTGAGGGGGCGAGCCGTGAA
GATGGCGGCAGTGGTGGAGGTGGAGGTTGGAGGTGGTGCTGCTGGGGAACGGGAGCTGGATGAGGTTGATATGTCAGATCTCTCTCCAGA
AGAGCAATGGAGCGAGACGGTCATCTGTTCCAGCCGGGCCACTGTGATGCTTTATGATGATGGCAACAAGCGATGGCTCCCTGCTGGCAC
GGGTCCCCAGGCCTTCAGCCGCGTCCAGATCTACCACAACCCCACGGCCAATTCCTTTCGCGTCGTGGGCCGGAAGATGCAGCCCGACCA
GCAGGTGGTCATCAACTGTGCCATCGTCCGGGGTGTCAAGTATAACCAGGCCACCCCCAACTTCCATCAGTGGCGCGACGCTCGCCAGGT
CTGGGGCCTCAACTTCGGCAGCAAGGAGGATGCGGCCCAGTTTGCCGCCGGCATGGCCAGTGCCCTAGAGGCGTTGGAAGGAGGTGGGCC
CCCTCCACCCCCAGCACTTCCCACCTGGTCGGTCCCGAACGGCCCCTCCCCGGAGGAGGTGGAGCAGCAGAAAAGGCAGCAGCCCGGCCC
GTCGGAGCACATAGAGCGCCGGGTCTCCAATGCAGGAGGCCCACCTGCTCCCCCCGCTGGGGGTCCACCCCCACCACCAGGACCTCCCCC
TCCTCCAGGTCCCCCCCCACCCCCAGGTTTGCCCCCTTCGGGGGTCCCAGCTGCAGCGCACGGAGCAGGGGGAGGACCACCCCCTGCACC
CCCTCTCCCGGCAGCACAGGGCCCTGGTGGTGGGGGAGCTGGGGCCCCAGGCCTGGCCGCAGCTATTGCTGGAGCCAAACTCAGGAAAGT
CAGCAAGCAGGAGGAGGCCTCAGGGGGGCCCACAGCCCCCAAAGCTGAGAGTGGTCGAAGCGGAGGTGGGGGACTCATGGAAGAGATGAA
CGCCATGCTGGCCCGGAGAAGGAAAGCCACGCAAGTTGGGGAGAAAACCCCCAAGGATGAATCTGCCAATCAGGAGGAGCCAGAGGCCAG
AGTCCCGGCCCAGAGTGAATCTGTGCGGAGACCCTGGGAGAAGAACAGCACAACCTTGCCAAGGATGAAGTCGTCTTCTTCGGTGACCAC
TTCCGAGACCCAACCCTGCACGCCCAGCTCCAGTGATTACTCGGACCTACAGAGGGTGAAACAGGAGCTTCTGGAAGAGGTGAAGAAGGA
ATTGCAGAAAGTGAAAGAGGAAATCATTGAAGCCTTCGTCCAGGAGCTGAGGAAGCGGGGTTCTCCCTGACCACAGGGACCCAGAAGACC
CGCTTCTCCTTTCCGCACACCCGGCCTGTCACCCTGCTTTCCCTGCCTCTACTTGACTTGGAATTGGCTGAAGACTACACAGGAATGCAT
CGTTCCCACTCCCCATCCCACTTGGAAAACTCCAAGGGGGTGTGGCTTCCCTGCTCACACCCACACTGGCTGCTGATTGGCTGGGGAGGC
CCCCGCCCTTTTCTCCCTTTGGTCCTTCCCCTCTGCCATCCCCTTGGGGCCGGTCCCTCTGCTGGGGATGCACCAATGAACCCCACAGGA
AGGGGGAAGGAAGGAGGGAATTTCACATTCCCTTGTTCTAGATTCACTTTAACGCTTAATGCCTTCAAAGTTTTGGTTTTTTTAAGAAAA
AAAAATATATATATATTTGGGTTTTGGGGGAAAAGGGAAATTTTTTTTTCTCTTTGGTTTTGATAAAATGGGATGTGGGAGTTTTTAAAT
GCTATAGCCCTGGGCTTGCCCCATTTGGGGCAGCTATTTAAGGGGAGGGGATGTCTCACCGGGCTGGGGGTGAGATATCCCCCCACCCCA
GGGACTCCCCTTCCCTCTGGCTCCTTCCCCTTTTCTATGAGGAAATAAGATGCTGTAACTTTTTGGAACCTCAGTTTTTTGATTTTTTAT
TTGGGTAGGTTTTGGGGTCCAGGCCATTTTTTTTACCCCTTGGAGGAAATAAGATGAGGGAGAAAGGAGAAGGGGAGGAAACTTCTCCCC

>In-frame_ENST00000361756_ENST00000245932_TCGA-V1-A9OA-01A_RNF121_chr11_71668310_+_VASP_chr19_46020921_length(amino acids)=426AA_start in transcript=319_stop in transcript=1599
MARAGTAVRGRAVKMAAVVEVEVGGGAAGERELDEVDMSDLSPEEQWSETVICSSRATVMLYDDGNKRWLPAGTGPQAFSRVQIYHNPTA
NSFRVVGRKMQPDQQVVINCAIVRGVKYNQATPNFHQWRDARQVWGLNFGSKEDAAQFAAGMASALEALEGGGPPPPPALPTWSVPNGPS
PEEVEQQKRQQPGPSEHIERRVSNAGGPPAPPAGGPPPPPGPPPPPGPPPPPGLPPSGVPAAAHGAGGGPPPAPPLPAAQGPGGGGAGAP
GLAAAIAGAKLRKVSKQEEASGGPTAPKAESGRSGGGGLMEEMNAMLARRRKATQVGEKTPKDESANQEEPEARVPAQSESVRRPWEKNS

--------------------------------------------------------------

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Fusion Gene PPI Analysis for RNF121-VASP

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for RNF121-VASP

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for RNF121-VASP

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	VASP	C0023893	Liver Cirrhosis, Experimental	1	CTD_human