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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:VWA8-RB1 (FusionGDB2 ID:98628)

Fusion Gene Summary for VWA8-RB1

Fusion gene summary

Fusion gene information	Fusion gene name: VWA8-RB1
	Fusion gene ID: 98628
		Hgene	Tgene
	Gene symbol	VWA8	RB1
	Gene ID	23078	5925
	Gene name	von Willebrand factor A domain containing 8	RB transcriptional corepressor 1
	Synonyms	KIAA0564\|P7BP2	OSRC\|PPP1R130\|RB\|p105-Rb\|p110-RB1\|pRb\|pp110
	Cytomap	13q14.11	13q14.2
	Type of gene	protein-coding	protein-coding
	Description	von Willebrand factor A domain-containing protein 8PEX7-binding protein 2	retinoblastoma-associated proteinGOS563 exon 17 substitution mutation causes premature stopexon 17 tumor GOS561 substitution mutation causes premature stopprepro-retinoblastoma-associated proteinprotein phosphatase 1, regulatory subunit 130retinoblas
	Modification date	20200313	20200329
	UniProtAcc	A3KMH1	RB1CC1
	Ensembl transtripts involved in fusion gene	ENST00000281496, ENST00000379310, ENST00000478987,	ENST00000484879, ENST00000267163,
Fusion gene scores	* DoF score	13 X 12 X 6=936	13 X 16 X 11=2288
	# samples	13	27
	** MAII score	log2(13/936*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(27/2288*10)=-3.08305573972756 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: VWA8 [Title/Abstract] AND RB1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	VWA8(42439872)-RB1(48916735), # 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	RB1	GO:0043550	regulation of lipid kinase activity	16286473
Tgene	RB1	GO:0045892	negative regulation of transcription, DNA-templated	10783144\|12065415\|19223331
Tgene	RB1	GO:2000679	positive regulation of transcription regulatory region DNA binding	25100735

Fusion gene breakpoints across VWA8 (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 RB1 (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	BRCA	TCGA-BH-A18G-01A	VWA8	chr13	42439872	-	RB1	chr13	48916735	+

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Fusion Gene ORF analysis for VWA8-RB1

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
5CDS-intron	ENST00000281496	ENST00000484879	VWA8	chr13	42439872	-	RB1	chr13	48916735	+
5CDS-intron	ENST00000379310	ENST00000484879	VWA8	chr13	42439872	-	RB1	chr13	48916735	+
In-frame	ENST00000281496	ENST00000267163	VWA8	chr13	42439872	-	RB1	chr13	48916735	+
In-frame	ENST00000379310	ENST00000267163	VWA8	chr13	42439872	-	RB1	chr13	48916735	+
intron-3CDS	ENST00000478987	ENST00000267163	VWA8	chr13	42439872	-	RB1	chr13	48916735	+
intron-intron	ENST00000478987	ENST00000484879	VWA8	chr13	42439872	-	RB1	chr13	48916735	+

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)

ENST00000379310

VWA8

chr13

42439872

ENST00000267163

RB1

chr13

48916735

5932

1494

4016

1315

ENST00000281496

VWA8

chr13

42439872

ENST00000267163

RB1

chr13

48916735

5968

1530

4052

1346

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
ENST00000379310	ENST00000267163	VWA8	chr13	42439872	-	RB1	chr13	48916735	+	0.000158425	0.9998416
ENST00000281496	ENST00000267163	VWA8	chr13	42439872	-	RB1	chr13	48916735	+	0.000163912	0.9998361

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Fusion Genomic Features for VWA8-RB1

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)
VWA8	chr13	42439871	-	RB1	chr13	48916734	+	3.10E-07	0.99999964
VWA8	chr13	42439871	-	RB1	chr13	48916734	+	3.10E-07	0.99999964

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 VWA8-RB1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr13:42439872/chr13:48916735)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

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

Hgene	Tgene
VWA8 A3KMH1	RB1 RB1CC1
FUNCTION: Exhibits ATPase activity in vitro. {ECO:0000250\|UniProtKB:Q8CC88}.	1594

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

Hgene

VWA8

chr13:42439872

chr13:48916735

ENST00000281496

447_454

475

1040.0

Nucleotide binding

ATP

Hgene

VWA8

chr13:42439872

chr13:48916735

ENST00000379310

447_454

475

1906.0

Nucleotide binding

ATP

Tgene

RB1

chr13:42439872

chr13:48916735

ENST00000267163

860_876

929.0

Motif

Bipartite nuclear localization signal

Tgene

RB1

chr13:42439872

chr13:48916735

ENST00000267163

373_579

929.0

Region

Note=Domain A

Tgene

RB1

chr13:42439872

chr13:48916735

ENST00000267163

373_771

929.0

Region

Note=Pocket%3B binds T and E1A

Tgene

RB1

chr13:42439872

chr13:48916735

ENST00000267163

580_639

929.0

Region

Note=Spacer

Tgene

RB1

chr13:42439872

chr13:48916735

ENST00000267163

640_771

929.0

Region

Note=Domain B

- 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

VWA8

chr13:42439872

chr13:48916735

ENST00000281496

1714_1896

475

1040.0

Domain

VWFA

Hgene

VWA8

chr13:42439872

chr13:48916735

ENST00000379310

1714_1896

475

1906.0

Domain

VWFA

Tgene

RB1

chr13:42439872

chr13:48916735

ENST00000267163

10_18

929.0

Compositional bias

Note=Poly-Ala

Tgene

RB1

chr13:42439872

chr13:48916735

ENST00000267163

20_29

929.0

Compositional bias

Note=Poly-Pro

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Fusion Gene Sequence for VWA8-RB1

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.

>98628_98628_1_VWA8-RB1_VWA8_chr13_42439872_ENST00000281496_RB1_chr13_48916735_ENST00000267163_length(transcript)=5968nt_BP=1530nt
AGGTGCCGCTTCCTGTCCCCTTCTCCGCGCTGCCTCACGGTGCCTGCACGGGACGCCGCTCGATCCCCGAGCCCCCTCGCCGTCCCCGAC
AGCCCCCCCGGCGCCATGCAATCCCGGCTTCTACTCCTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTC
CTGCGGCAGGTGGTGCAGCGCAGGCCGGGTGGCGACAGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGT
GATACAGTTAATATTGGAGATGTATCCTACAAGTTGAAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTACATTTCAGACTCTCTG
GCTCAATCTGTAGTTCAGCATCTAAGATGGATAATGCAGAAGGATCTTTTGGGGCAAGATGTTTTTCTAATAGGACCTCCTGGGCCTCTT
CGACGCTCTATTGCTATGCAGTACTTGGAGCTGACCAAACGGGAGGTCGAATACATTGCCCTGTCAAGGGACACCACTGAAACTGATCTC
AAACAGCGACGAGAGATCCGTGCAGGCACAGCCTTTTACATTGATCAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTG
GAAGGTTTGGAAAAGGCAGAGAGGAATGTTTTGCCTGTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTC
CTGATGTCTGCTGAGCGTTACGACAAACTTCTCCGAGATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAAT
TTCCGAGTGATTGCCTTGGGCTTGCCAGTGCCAAGGTATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGAT
ATTTATTATTTACCCTTCAAGGACCAACTTAAGTTGTTATATTCAATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCC
TTTGCCACAACTCTGTGTTCCCAAGAATCTTCTACTCTTGGACTTCCAGACTTTCCTTTAGATAGTTTAGCAGCTGCGGTTCAAATCTTG
GATTCCTTTCCTATGATGCCAATCAAACATGCAATCCAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAAGGGAAGATGGCTGTG
GAAGGTGTTTTAAAGCGCTTTGAACTTCAAGATTCAGGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAAC
CATGTGTCCCAAGCTTCTGTGACCATCCGGATTGCAGATAAAGAGGTGACCATTAAGGTGCCAGCCGGGACCAGGCTATTAAGTCAACCT
TGTGCGTCAGACCGTTTCATACAGACTTTGAGCCATAAGCAGCTACAGGCTGAAATGATGCAGTCTCACATGGTTAAAGATATATGTTTA
ATTGGAGGAAAGGGTTGTGGAAAAACAGTGATCGCTAAGAACTTTGCCGATACCTTAGGATACAACATAGAACCTATTATGCTCTATCAG
GGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCAGTTGACCTAGATGAGATGTCGTTCACTTTTACT
GAGCTACAGAAAAACATAGAAATCAGTGTCCATAAATTCTTTAACTTACTAAAAGAAATTGATACCAGTACCAAAGTTGATAATGCTATG
TCAAGACTGTTGAAGAAGTATGATGTATTGTTTGCACTCTTCAGCAAATTGGAAAGGACATGTGAACTTATATATTTGACACAACCCAGC
AGTTCGATATCTACTGAAATAAATTCTGCATTGGTGCTAAAAGTTTCTTGGATCACATTTTTATTAGCTAAAGGGGAAGTATTACAAATG
GAAGATGATCTGGTGATTTCATTTCAGTTAATGCTATGTGTCCTTGACTATTTTATTAAACTCTCACCTCCCATGTTGCTCAAAGAACCA
TATAAAACAGCTGTTATACCCATTAATGGTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTGCACGGATAGCAAAACAACTAGAA
AATGATACAAGAATTATTGAAGTTCTCTGTAAAGAACATGAATGTAATATAGATGAGGTGAAAAATGTTTATTTCAAAAATTTTATACCT
TTTATGAATTCTCTTGGACTTGTAACATCTAATGGACTTCCAGAGGTTGAAAATCTTTCTAAACGATACGAAGAAATTTATCTTAAAAAT
AAAGATCTAGATGCAAGATTATTTTTGGATCATGATAAAACTCTTCAGACTGATTCTATAGACAGTTTTGAAACACAGAGAACACCACGA
AAAAGTAACCTTGATGAAGAGGTGAATGTAATTCCTCCACACACTCCAGTTAGGACTGTTATGAACACTATCCAACAATTAATGATGATT
TTAAATTCAGCAAGTGATCAACCTTCAGAAAATCTGATTTCCTATTTTAACAACTGCACAGTGAATCCAAAAGAAAGTATACTGAAAAGA
GTGAAGGATATAGGATACATCTTTAAAGAGAAATTTGCTAAAGCTGTGGGACAGGGTTGTGTCGAAATTGGATCACAGCGATACAAACTT
GGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAATCAGAAGAAGAACGATTATCCATTCAAAATTTTAGCAAACTTCTGAAT
GACAACATTTTTCATATGTCTTTATTGGCGTGCGCTCTTGAGGTTGTAATGGCCACATATAGCAGAAGTACATCTCAGAATCTTGATTCT
GGAACAGATTTGTCTTTCCCATGGATTCTGAATGTGCTTAATTTAAAAGCCTTTGATTTTTACAAAGTGATCGAAAGTTTTATCAAAGCA
GAAGGCAACTTGACAAGAGAAATGATAAAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCTTGCATGGCTCTCAGATTCACCT
TTATTTGATCTTATTAAACAATCAAAGGACCGAGAAGGACCAACTGATCACCTTGAATCTGCTTGTCCTCTTAATCTTCCTCTCCAGAAT
AATCACACTGCAGCAGATATGTATCTTTCTCCTGTAAGATCTCCAAAGAAAAAAGGTTCAACTACGCGTGTAAATTCTACTGCAAATGCA
GAGACACAAGCAACCTCAGCCTTCCAGACCCAGAAGCCATTGAAATCTACCTCTCTTTCACTGTTTTATAAAAAAGTGTATCGGCTAGCC
TATCTCCGGCTAAATACACTTTGTGAACGCCTTCTGTCTGAGCACCCAGAATTAGAACATATCATCTGGACCCTTTTCCAGCACACCCTG
CAGAATGAGTATGAACTCATGAGAGACAGGCATTTGGACCAAATTATGATGTGTTCCATGTATGGCATATGCAAAGTGAAGAATATAGAC
CTTAAATTCAAAATCATTGTAACAGCATACAAGGATCTTCCTCATGCTGTTCAGGAGACATTCAAACGTGTTTTGATCAAAGAAGAGGAG
TATGATTCTATTATAGTATTCTATAACTCGGTCTTCATGCAGAGACTGAAAACAAATATTTTGCAGTATGCTTCCACCAGGCCCCCTACC
TTGTCACCAATACCTCACATTCCTCGAAGCCCTTACAAGTTTCCTAGTTCACCCTTACGGATTCCTGGAGGGAACATCTATATTTCACCC
CTGAAGAGTCCATATAAAATTTCAGAAGGTCTGCCAACACCAACAAAAATGACTCCAAGATCAAGAATCTTAGTATCAATTGGTGAATCA
TTCGGGACTTCTGAGAAGTTCCAGAAAATAAATCAGATGGTATGTAACAGCGACCGTGTGCTCAAAAGAAGTGCTGAAGGAAGCAACCCT
CCTAAACCACTGAAAAAACTACGCTTTGATATTGAAGGATCAGATGAAGCAGATGGAAGTAAACATCTCCCAGGAGAGTCCAAATTTCAG
CAGAAACTGGCAGAAATGACTTCTACTCGAACACGAATGCAAAAGCAGAAAATGAATGATAGCATGGATACCTCAAACAAGGAAGAGAAA
TGAGGATCTCAGGACCTTGGTGGACACTGTGTACACCTCTGGATTCATTGTCTCTCACAGATGTGACTGTATAACTTTCCCAGGTTCTGT
TTATGGCCACATTTAATATCTTCAGCTCTTTTTGTGGATATAAAATGTGCAGATGCAATTGTTTGGGTGATTCCTAAGCCACTTGAAATG
TTAGTCATTGTTATTTATACAAGATTGAAAATCTTGTGTAAATCCTGCCATTTAAAAAGTTGTAGCAGATTGTTTCCTCTTCCAAAGTAA
AATTGCTGTGCTTTATGGATAGTAAGAATGGCCCTAGAGTGGGAGTCCTGATAACCCAGGCCTGTCTGACTACTTTGCCTTCTTTTGTAG
CATATAGGTGATGTTTGCTCTTGTTTTTATTAATTTATATGTATATTTTTTTAATTTAACATGAACACCCTTAGAAAATGTGTCCTATCT
ATCTTCCAAATGCAATTTGATTGACTGCCCATTCACCAAAATTATCCTGAACTCTTCTGCAAAAATGGATATTATTAGAAATTAGAAAAA
AATTACTAATTTTACACATTAGATTTTATTTTACTATTGGAATCTGATATACTGTGTGCTTGTTTTATAAAATTTTGCTTTTAATTAAAT
AAAAGCTGGAAGCAAAGTATAACCATATGATACTATCATACTACTGAAACAGATTTCATACCTCAGAATGTAAAAGAACTTACTGATTAT
TTTCTTCATCCAACTTATGTTTTTAAATGAGGATTATTGATAGTACTCTTGGTTTTTATACCATTCAGATCACTGAATTTATAAAGTACC
CATCTAGTACTTGAAAAAGTAAAGTGTTCTGCCAGATCTTAGGTATAGAGGACCCTAACACAGTATATCCCAAGTGCACTTTCTAATGTT
TCTGGGTCCTGAAGAATTAAGATACAAATTAATTTTACTCCATAAACAGACTGTTAATTATAGGAGCCTTAATTTTTTTTTCATAGAGAT
TTGTCTAATTGCATCTCAAAATTATTCTGCCCTCCTTAATTTGGGAAGGTTTGTGTTTTCTCTGGAATGGTACATGTCTTCCATGTATCT
TTTGAACTGGCAATTGTCTATTTATCTTTTATTTTTTTAAGTCAGTATGGTCTAACACTGGCATGTTCAAAGCCACATTATTTCTAGTCC
AAAATTACAAGTAATCAAGGGTCATTATGGGTTAGGCATTAATGTTTCTATCTGATTTTGTGCAAAAGCTTCAAATTAAAACAGCTGCAT
TAGAAAAAGAGGCGCTTCTCCCCTCCCCTACACCTAAAGGTGTATTTAAACTATCTTGTGTGATTAACTTATTTAGAGATGCTGTAACTT
AAAATAGGGGATATTTAAGGTAGCTTCAGCTAGCTTTTAGGAAAATCACTTTGTCTAACTCAGAATTATTTTTAAAAAGAAATCTGGTCT
TGTTAGAAAACAAAATTTTATTTTGTGCTCATTTAAGTTTCAAACTTACTATTTTGACAGTTATTTTGATAACAATGACACTAGAAAACT
TGACTCCATTTCATCATTGTTTCTGCATGAATATCATACAAATCAGTTAGTTTTTAGGTCAAGGGCTTACTATTTCTGGGTCTTTTGCTA
CTAAGTTCACATTAGAATTAGTGCCAGAATTTTAGGAACTTCAGAGATCGTGTATTGAGATTTCTTAAATAATGCTTCAGATATTATTGC
TTTATTGCTTTTTTGTATTGGTTAAAACTGTACATTTAAAATTGCTATGTTACTATTTTCTACAATTAATAGTTTGTCTATTTTAAAATA
AATTAGTTGTTAAGAGTCTTAATGGTCTGATGTTGTGTTCTTTGTATTAAGTACACTAATGTTCTCTTTTCTGTCTAGGAGAAGATAGAT

>98628_98628_1_VWA8-RB1_VWA8_chr13_42439872_ENST00000281496_RB1_chr13_48916735_ENST00000267163_length(amino acids)=1346AA_BP=505
MSPSPRCLTVPARDAARSPSPLAVPDSPPGAMQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVN
IGDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRR
EIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVI
ALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFP
MMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASD
RFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQK
NIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDL
VISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNS
LGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSA
SDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDNIF
HMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSDSPLFDL
IKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRL
NTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSI
IVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTS

--------------------------------------------------------------
>98628_98628_2_VWA8-RB1_VWA8_chr13_42439872_ENST00000379310_RB1_chr13_48916735_ENST00000267163_length(transcript)=5932nt_BP=1494nt
ACGGTGCCTGCACGGGACGCCGCTCGATCCCCGAGCCCCCTCGCCGTCCCCGACAGCCCCCCCGGCGCCATGCAATCCCGGCTTCTACTC
CTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGGCGCATGCGGCTGCTCCTGCGGCAGGTGGTGCAGCGCAGGCCGGGTGGCGAC
AGGCAGCGGCCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAGGTGATACAGTTAATATTGGAGATGTATCCTACAAGTTG
AAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTACATTTCAGACTCTCTGGCTCAATCTGTAGTTCAGCATCTAAGATGGATAATG
CAGAAGGATCTTTTGGGGCAAGATGTTTTTCTAATAGGACCTCCTGGGCCTCTTCGACGCTCTATTGCTATGCAGTACTTGGAGCTGACC
AAACGGGAGGTCGAATACATTGCCCTGTCAAGGGACACCACTGAAACTGATCTCAAACAGCGACGAGAGATCCGTGCAGGCACAGCCTTT
TACATTGATCAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTGGAAGGTTTGGAAAAGGCAGAGAGGAATGTTTTGCCT
GTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTCCTGATGTCTGCTGAGCGTTACGACAAACTTCTCCGA
GATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAATTTCCGAGTGATTGCCTTGGGCTTGCCAGTGCCAAGG
TATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGATATTTATTATTTACCCTTCAAGGACCAACTTAAGTTG
TTATATTCAATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCCTTTGCCACAACTCTGTGTTCCCAAGAATCTTCTACT
CTTGGACTTCCAGACTTTCCTTTAGATAGTTTAGCAGCTGCGGTTCAAATCTTGGATTCCTTTCCTATGATGCCAATCAAACATGCAATC
CAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAAGGGAAGATGGCTGTGGAAGGTGTTTTAAAGCGCTTTGAACTTCAAGATTCA
GGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAACCATGTGTCCCAAGCTTCTGTGACCATCCGGATTGCA
GATAAAGAGGTGACCATTAAGGTGCCAGCCGGGACCAGGCTATTAAGTCAACCTTGTGCGTCAGACCGTTTCATACAGACTTTGAGCCAT
AAGCAGCTACAGGCTGAAATGATGCAGTCTCACATGGTTAAAGATATATGTTTAATTGGAGGAAAGGGTTGTGGAAAAACAGTGATCGCT
AAGAACTTTGCCGATACCTTAGGATACAACATAGAACCTATTATGCTCTATCAGGGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGA
ATCTGTATCTTTATTGCAGCAGTTGACCTAGATGAGATGTCGTTCACTTTTACTGAGCTACAGAAAAACATAGAAATCAGTGTCCATAAA
TTCTTTAACTTACTAAAAGAAATTGATACCAGTACCAAAGTTGATAATGCTATGTCAAGACTGTTGAAGAAGTATGATGTATTGTTTGCA
CTCTTCAGCAAATTGGAAAGGACATGTGAACTTATATATTTGACACAACCCAGCAGTTCGATATCTACTGAAATAAATTCTGCATTGGTG
CTAAAAGTTTCTTGGATCACATTTTTATTAGCTAAAGGGGAAGTATTACAAATGGAAGATGATCTGGTGATTTCATTTCAGTTAATGCTA
TGTGTCCTTGACTATTTTATTAAACTCTCACCTCCCATGTTGCTCAAAGAACCATATAAAACAGCTGTTATACCCATTAATGGTTCACCT
CGAACACCCAGGCGAGGTCAGAACAGGAGTGCACGGATAGCAAAACAACTAGAAAATGATACAAGAATTATTGAAGTTCTCTGTAAAGAA
CATGAATGTAATATAGATGAGGTGAAAAATGTTTATTTCAAAAATTTTATACCTTTTATGAATTCTCTTGGACTTGTAACATCTAATGGA
CTTCCAGAGGTTGAAAATCTTTCTAAACGATACGAAGAAATTTATCTTAAAAATAAAGATCTAGATGCAAGATTATTTTTGGATCATGAT
AAAACTCTTCAGACTGATTCTATAGACAGTTTTGAAACACAGAGAACACCACGAAAAAGTAACCTTGATGAAGAGGTGAATGTAATTCCT
CCACACACTCCAGTTAGGACTGTTATGAACACTATCCAACAATTAATGATGATTTTAAATTCAGCAAGTGATCAACCTTCAGAAAATCTG
ATTTCCTATTTTAACAACTGCACAGTGAATCCAAAAGAAAGTATACTGAAAAGAGTGAAGGATATAGGATACATCTTTAAAGAGAAATTT
GCTAAAGCTGTGGGACAGGGTTGTGTCGAAATTGGATCACAGCGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATG
CTTAAATCAGAAGAAGAACGATTATCCATTCAAAATTTTAGCAAACTTCTGAATGACAACATTTTTCATATGTCTTTATTGGCGTGCGCT
CTTGAGGTTGTAATGGCCACATATAGCAGAAGTACATCTCAGAATCTTGATTCTGGAACAGATTTGTCTTTCCCATGGATTCTGAATGTG
CTTAATTTAAAAGCCTTTGATTTTTACAAAGTGATCGAAAGTTTTATCAAAGCAGAAGGCAACTTGACAAGAGAAATGATAAAACATTTA
GAACGATGTGAACATCGAATCATGGAATCCCTTGCATGGCTCTCAGATTCACCTTTATTTGATCTTATTAAACAATCAAAGGACCGAGAA
GGACCAACTGATCACCTTGAATCTGCTTGTCCTCTTAATCTTCCTCTCCAGAATAATCACACTGCAGCAGATATGTATCTTTCTCCTGTA
AGATCTCCAAAGAAAAAAGGTTCAACTACGCGTGTAAATTCTACTGCAAATGCAGAGACACAAGCAACCTCAGCCTTCCAGACCCAGAAG
CCATTGAAATCTACCTCTCTTTCACTGTTTTATAAAAAAGTGTATCGGCTAGCCTATCTCCGGCTAAATACACTTTGTGAACGCCTTCTG
TCTGAGCACCCAGAATTAGAACATATCATCTGGACCCTTTTCCAGCACACCCTGCAGAATGAGTATGAACTCATGAGAGACAGGCATTTG
GACCAAATTATGATGTGTTCCATGTATGGCATATGCAAAGTGAAGAATATAGACCTTAAATTCAAAATCATTGTAACAGCATACAAGGAT
CTTCCTCATGCTGTTCAGGAGACATTCAAACGTGTTTTGATCAAAGAAGAGGAGTATGATTCTATTATAGTATTCTATAACTCGGTCTTC
ATGCAGAGACTGAAAACAAATATTTTGCAGTATGCTTCCACCAGGCCCCCTACCTTGTCACCAATACCTCACATTCCTCGAAGCCCTTAC
AAGTTTCCTAGTTCACCCTTACGGATTCCTGGAGGGAACATCTATATTTCACCCCTGAAGAGTCCATATAAAATTTCAGAAGGTCTGCCA
ACACCAACAAAAATGACTCCAAGATCAAGAATCTTAGTATCAATTGGTGAATCATTCGGGACTTCTGAGAAGTTCCAGAAAATAAATCAG
ATGGTATGTAACAGCGACCGTGTGCTCAAAAGAAGTGCTGAAGGAAGCAACCCTCCTAAACCACTGAAAAAACTACGCTTTGATATTGAA
GGATCAGATGAAGCAGATGGAAGTAAACATCTCCCAGGAGAGTCCAAATTTCAGCAGAAACTGGCAGAAATGACTTCTACTCGAACACGA
ATGCAAAAGCAGAAAATGAATGATAGCATGGATACCTCAAACAAGGAAGAGAAATGAGGATCTCAGGACCTTGGTGGACACTGTGTACAC
CTCTGGATTCATTGTCTCTCACAGATGTGACTGTATAACTTTCCCAGGTTCTGTTTATGGCCACATTTAATATCTTCAGCTCTTTTTGTG
GATATAAAATGTGCAGATGCAATTGTTTGGGTGATTCCTAAGCCACTTGAAATGTTAGTCATTGTTATTTATACAAGATTGAAAATCTTG
TGTAAATCCTGCCATTTAAAAAGTTGTAGCAGATTGTTTCCTCTTCCAAAGTAAAATTGCTGTGCTTTATGGATAGTAAGAATGGCCCTA
GAGTGGGAGTCCTGATAACCCAGGCCTGTCTGACTACTTTGCCTTCTTTTGTAGCATATAGGTGATGTTTGCTCTTGTTTTTATTAATTT
ATATGTATATTTTTTTAATTTAACATGAACACCCTTAGAAAATGTGTCCTATCTATCTTCCAAATGCAATTTGATTGACTGCCCATTCAC
CAAAATTATCCTGAACTCTTCTGCAAAAATGGATATTATTAGAAATTAGAAAAAAATTACTAATTTTACACATTAGATTTTATTTTACTA
TTGGAATCTGATATACTGTGTGCTTGTTTTATAAAATTTTGCTTTTAATTAAATAAAAGCTGGAAGCAAAGTATAACCATATGATACTAT
CATACTACTGAAACAGATTTCATACCTCAGAATGTAAAAGAACTTACTGATTATTTTCTTCATCCAACTTATGTTTTTAAATGAGGATTA
TTGATAGTACTCTTGGTTTTTATACCATTCAGATCACTGAATTTATAAAGTACCCATCTAGTACTTGAAAAAGTAAAGTGTTCTGCCAGA
TCTTAGGTATAGAGGACCCTAACACAGTATATCCCAAGTGCACTTTCTAATGTTTCTGGGTCCTGAAGAATTAAGATACAAATTAATTTT
ACTCCATAAACAGACTGTTAATTATAGGAGCCTTAATTTTTTTTTCATAGAGATTTGTCTAATTGCATCTCAAAATTATTCTGCCCTCCT
TAATTTGGGAAGGTTTGTGTTTTCTCTGGAATGGTACATGTCTTCCATGTATCTTTTGAACTGGCAATTGTCTATTTATCTTTTATTTTT
TTAAGTCAGTATGGTCTAACACTGGCATGTTCAAAGCCACATTATTTCTAGTCCAAAATTACAAGTAATCAAGGGTCATTATGGGTTAGG
CATTAATGTTTCTATCTGATTTTGTGCAAAAGCTTCAAATTAAAACAGCTGCATTAGAAAAAGAGGCGCTTCTCCCCTCCCCTACACCTA
AAGGTGTATTTAAACTATCTTGTGTGATTAACTTATTTAGAGATGCTGTAACTTAAAATAGGGGATATTTAAGGTAGCTTCAGCTAGCTT
TTAGGAAAATCACTTTGTCTAACTCAGAATTATTTTTAAAAAGAAATCTGGTCTTGTTAGAAAACAAAATTTTATTTTGTGCTCATTTAA
GTTTCAAACTTACTATTTTGACAGTTATTTTGATAACAATGACACTAGAAAACTTGACTCCATTTCATCATTGTTTCTGCATGAATATCA
TACAAATCAGTTAGTTTTTAGGTCAAGGGCTTACTATTTCTGGGTCTTTTGCTACTAAGTTCACATTAGAATTAGTGCCAGAATTTTAGG
AACTTCAGAGATCGTGTATTGAGATTTCTTAAATAATGCTTCAGATATTATTGCTTTATTGCTTTTTTGTATTGGTTAAAACTGTACATT
TAAAATTGCTATGTTACTATTTTCTACAATTAATAGTTTGTCTATTTTAAAATAAATTAGTTGTTAAGAGTCTTAATGGTCTGATGTTGT

>98628_98628_2_VWA8-RB1_VWA8_chr13_42439872_ENST00000379310_RB1_chr13_48916735_ENST00000267163_length(amino acids)=1315AA_BP=474
MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVV
QHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEK
AERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLP
FKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLK
RFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKG
CGKTVIAKNFADTLGYNIEPIMLYQGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLK
KYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAV
IPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDA
RLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIG
YIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLS
FPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAA
DMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYE
LMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIP
HIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLK

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

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Fusion Gene PPI Analysis for VWA8-RB1

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
Hgene	VWA8	chr13:42439872	chr13:48916735	ENST00000281496	-	12	26	1_261	475.0	1040.0	PEX7
Hgene	VWA8	chr13:42439872	chr13:48916735	ENST00000379310	-	12	45	1_261	475.0	1906.0	PEX7
Tgene	RB1	chr13:42439872	chr13:48916735	ENST00000267163		1	27	763_928	88.0	929.0	LIMD1

- 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 VWA8-RB1

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

Top

Related Diseases for VWA8-RB1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source