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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:VPS53-RTN4RL1 (FusionGDB2 ID:97818)

Fusion Gene Summary for VPS53-RTN4RL1

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS53-RTN4RL1
Fusion gene ID: 97818
HgeneTgene
Gene symbol

VPS53

RTN4RL1

Gene ID

55275

146760

Gene nameVPS53 subunit of GARP complexreticulon 4 receptor like 1
SynonymsHCCS1|PCH2E|hVps53L|pp13624NGRH2|NgR3
Cytomap

17p13.3

17p13.3

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 53 homologVPS53, GARP complex subunitreticulon-4 receptor-like 1Nogo-66 receptor homolog 2Nogo-66 receptor-related protein 3nogo receptor-like 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000437048, ENST00000574029, 
ENST00000576149, ENST00000446250, 
ENST00000291074, ENST00000571805, 
ENST00000401468, 
ENST00000331238, 
Fusion gene scores* DoF score18 X 15 X 14=37807 X 2 X 8=112
# samples 2410
** MAII scorelog2(24/3780*10)=-3.97727992349992
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/112*10)=-0.163498732282879
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: VPS53 [Title/Abstract] AND RTN4RL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointVPS53(600658)-RTN4RL1(1841102), # samples:2
VPS53(505035)-RTN4RL1(1841102), # samples:2
Anticipated loss of major functional domain due to fusion event.VPS53-RTN4RL1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
VPS53-RTN4RL1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across VPS53 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across RTN4RL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-OL-A5RW-01AVPS53chr17

600658

-RTN4RL1chr17

1841102

-
ChimerDB4OVTCGA-29-1702-01AVPS53chr17

505035

-RTN4RL1chr17

1841102

-
ChimerDB4BRCATCGA-OL-A5RWVPS53chr17

600657

-RTN4RL1chr17

1841102

-
ChimerDB4OVTCGA-29-1702-01AVPS53chr17

505035

-RTN4RL1chr17

1841102

-
ChimerDB4BRCATCGA-OL-A5RW-01AVPS53chr17

600658

-RTN4RL1chr17

1841102

-


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Fusion Gene ORF analysis for VPS53-RTN4RL1

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000437048ENST00000331238VPS53chr17

600658

-RTN4RL1chr17

1841102

-
intron-3CDSENST00000574029ENST00000331238VPS53chr17

600658

-RTN4RL1chr17

1841102

-
intron-3CDSENST00000576149ENST00000331238VPS53chr17

600658

-RTN4RL1chr17

1841102

-
5UTR-3CDSENST00000446250ENST00000331238VPS53chr17

600658

-RTN4RL1chr17

1841102

-
Frame-shiftENST00000291074ENST00000331238VPS53chr17

600658

-RTN4RL1chr17

1841102

-
Frame-shiftENST00000571805ENST00000331238VPS53chr17

600658

-RTN4RL1chr17

1841102

-
Frame-shiftENST00000401468ENST00000331238VPS53chr17

600658

-RTN4RL1chr17

1841102

-
Frame-shiftENST00000437048ENST00000331238VPS53chr17

505035

-RTN4RL1chr17

1841102

-
intron-3CDSENST00000574029ENST00000331238VPS53chr17

505035

-RTN4RL1chr17

1841102

-
5UTR-3CDSENST00000576149ENST00000331238VPS53chr17

505035

-RTN4RL1chr17

1841102

-
In-frameENST00000446250ENST00000331238VPS53chr17

505035

-RTN4RL1chr17

1841102

-
Frame-shiftENST00000291074ENST00000331238VPS53chr17

505035

-RTN4RL1chr17

1841102

-
Frame-shiftENST00000571805ENST00000331238VPS53chr17

505035

-RTN4RL1chr17

1841102

-
Frame-shiftENST00000401468ENST00000331238VPS53chr17

505035

-RTN4RL1chr17

1841102

-
Frame-shiftENST00000437048ENST00000331238VPS53chr17

600657

-RTN4RL1chr17

1841102

-
intron-3CDSENST00000574029ENST00000331238VPS53chr17

600657

-RTN4RL1chr17

1841102

-
intron-3CDSENST00000576149ENST00000331238VPS53chr17

600657

-RTN4RL1chr17

1841102

-
5UTR-3CDSENST00000446250ENST00000331238VPS53chr17

600657

-RTN4RL1chr17

1841102

-
Frame-shiftENST00000291074ENST00000331238VPS53chr17

600657

-RTN4RL1chr17

1841102

-
Frame-shiftENST00000571805ENST00000331238VPS53chr17

600657

-RTN4RL1chr17

1841102

-
Frame-shiftENST00000401468ENST00000331238VPS53chr17

600657

-RTN4RL1chr17

1841102

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000446250VPS53chr17505035-ENST00000331238RTN4RL1chr171841102-4595146314772775432

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000446250ENST00000331238VPS53chr17505035-RTN4RL1chr171841102-0.139081660.8609184

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Fusion Genomic Features for VPS53-RTN4RL1


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution 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.

check buttonDistribution 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 VPS53-RTN4RL1


check button Go to

FGviewer for the breakpoints of chr17:505035-chr17:1841102

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
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.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneVPS53chr17:505035chr17:1841102ENST00000291074-111897_138377.0671.0Coiled coilOntology_term=ECO:0000255
HgeneVPS53chr17:505035chr17:1841102ENST00000437048-122297_138406.0833.0Coiled coilOntology_term=ECO:0000255
HgeneVPS53chr17:505035chr17:1841102ENST00000571805-121997_138406.0700.0Coiled coilOntology_term=ECO:0000255
TgeneRTN4RL1chr17:505035chr17:1841102ENST0000033123802255_3064.333333333333333442.0DomainNote=LRRCT
TgeneRTN4RL1chr17:505035chr17:1841102ENST000003312380225_544.333333333333333442.0DomainNote=LRRNT
TgeneRTN4RL1chr17:505035chr17:1841102ENST0000033123802101_1234.333333333333333442.0RepeatNote=LRR 3
TgeneRTN4RL1chr17:505035chr17:1841102ENST0000033123802126_1474.333333333333333442.0RepeatNote=LRR 4
TgeneRTN4RL1chr17:505035chr17:1841102ENST0000033123802150_1714.333333333333333442.0RepeatNote=LRR 5
TgeneRTN4RL1chr17:505035chr17:1841102ENST0000033123802174_1954.333333333333333442.0RepeatNote=LRR 6
TgeneRTN4RL1chr17:505035chr17:1841102ENST0000033123802198_2194.333333333333333442.0RepeatNote=LRR 7
TgeneRTN4RL1chr17:505035chr17:1841102ENST0000033123802222_2434.333333333333333442.0RepeatNote=LRR 8
TgeneRTN4RL1chr17:505035chr17:1841102ENST000003312380255_764.333333333333333442.0RepeatNote=LRR 1
TgeneRTN4RL1chr17:505035chr17:1841102ENST000003312380277_984.333333333333333442.0RepeatNote=LRR 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for VPS53-RTN4RL1


check button 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_ENST00000446250_ENST00000331238_TCGA-29-1702-01A_VPS53_chr17_505035_-_RTN4RL1_chr17_1841102_length(transcript)=4595nt_BP=1463nt
GAAGTGCCGGAGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGG
CGGCTGGAGGCCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAG
GAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGAT
TTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAA
ATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGCGCTTGAAGAGGCTCAG
AAAGCTATCCAACAACTCTTTGGCAAAATCAAAGATATCAAAGACAAAGCTGAAAAATCAGAGCAAATGGTGAAAGAAATCACCCGTGAT
ATTAAGCAATTAGATCACGCCAAACGCCACCTGACCACCTCAATCACCACACTGAACCACCTGCACATGCTGGCAGGAGGTGTCGACTCC
CTCGAAGCCATGACCAGGCGAAGACAATACGGAGAAGTTGCTAATCTCCTTCAGGGTGTGATGAATGTCCTGGAGCACTTCCACAAGTAT
ATGGGGATTCCGCAGATCCGGCAGCTTTCCGAAAGGAAACCCAAAACACTGCAGCTGCATGGATTGAACTGGACGTGATGTGAAATGAAA
TAAGCCAGACACGGGAAGACAGATTCCTCATGTTCTCACTCATAGTGAAGGCTGCACAGACTGAGTTAGGACAGCAAATCCTGGCAGATT
TTGAAGAAGCGTTTCCTTCCCAGGGCACCAAGAGACCAGGAGGACCCAGCAATGTTCTACGAGATGCATGTCTGGTTGCTAATATTCTAG
ATCCCAGGATCAAACAGGAAATCATCAAAAAGTTTATTAAACAGCATCTGTCAGAGTATCTGGTACTTTTTCAAGAAAACCAAGATGTTG
CCTGGCTGGACAAAATCGACAGACGCTATGCCTGGATAAAACGCCAGCTTGTGGACTATGAGGAGAAATACGGCCGCATGTTTCCACGTG
AGTGGTGCATGGCTGAGAGGATTGCGGTGGAATTTTGCCATGTGACAAGGGCAGAACTTGCCAAGATTATGCGTACCAGAGCGAAGGAAA
TTGAAGTGAAATTGCTTCTTTTTGCTATTCAAAGAACAACTAACTTTGAGGGGTTTCTTGCAAAACGCTTCTCCGGCTGCACCCTGACCG
ATGGGACCCTGAAAAAGCTTGAGTCTCCACCCCCATCTACCAATCCCTTCCTGGAAGATGAGCCAACACCAGAGATGGAGGAACTGGCAA
CGGAGAAAGGAGATTTAGATCAAGGTGCTGTGTGGAGTTGCTGCTGCTGTTGGTAGCTGCGGAGCTGCCCCTGGGTGGTGGCTGCCCACG
GGACTGTGTGTGCTACCCGGCGCCCATGACGGTCAGCTGCCAGGCGCACAACTTTGCAGCCATCCCGGAGGGCATCCCCGTGGACAGCGA
GCGCGTCTTCCTGCAGAACAACCGCATCGGCCTCCTCCAGCCCGGCCACTTCAGCCCCGCCATGGTCACCCTGTGGATCTACTCGAACAA
CATCACCTACATCCACCCCAGCACCTTCGAGGGCTTCGTGCACCTGGAGGAGCTGGACCTCGGCGACAACCGGCAGCTGCGGACGCTGGC
ACCCGAGACCTTCCAGGGCCTGGTGAAGCTTCACGCCCTCTACCTCTACAAGTGTGGGCTCAGCGCCTTGCCGGCCGGCGTCTTTGGCGG
CCTGCACAGCCTGCAGTACCTCTACCTGCAGGACAACCACATCGAGTACCTCCAGGACGACATCTTCGTGGACCTGGTCAACCTCAGCCA
CCTGTTTCTCCACGGCAACAAGCTGTGGAGTCTGGGCCCGGGCACCTTCCGGGGCCTGGTGAACCTGGACCGTCTTTTGCTGCACGAGAA
CCAGCTGCAGTGGGTCCACCACAAGGCGTTCCACGACCTCCGCAGGCTGACCACCCTCTTCCTCTTCAACAACAGCCTCTCGGAGCTGCA
GGGTGAGTGCCTGGCCCCGCTGGGGGCCCTGGAGTTCCTCCGCCTCAACGGCAACCCCTGGGACTGTGGTTGTCGCGCGCGCTCCCTGTG
GGAATGGCTGCAGAGGTTCCGGGGCTCCAGCTCCGCTGTCCCCTGTGTGTCCCCTGGGCTGCGGCACGGCCAGGACCTGAAGCTGCTGAG
GGCCGAGGACTTCCGGAACTGCACGGGACCAGCGTCCCCGCACCAGATCAAGTCACACACGCTCACCACCACCGACAGGGCCGCCCGCAA
GGAACACCACTCACCCCACGGCCCCACCAGGAGCAAGGGCCACCCGCACGGCCCCCGGCCCGGCCACAGGAAGCCGGGGAAGAACTGCAC
CAACCCCAGGAACCGCAATCAGATCTCTAAGGCGGGCGCCGGGAAACAGGCCCCCGAGCTGCCAGACTATGCCCCAGACTACCAGCACAA
GTTCAGTTTTGACATCATGCCTACGGCCCGGCCCAAGAGGAAGGGCAAGTGTGCCCGCAGGACCCCCATCCGTGCCCCCAGCGGGGTGCA
GCAGGCCTCCTCGGCCAGTTCCCTGGGGGCCTCCCTCCTGGCCTGGACACTGGGGCTGGCGGTCACTCTCCGCTGAGGACCCAGGGCGTC
AGCACCCAGCACTGCCACATGTCCACCAAGGAACAGAATTTATTTTCTTCTTTTTTTAACAAGTGGAAGATCTGCTGGGTTTCAGGAAAA
GGCTGGTAGAGCCTTCGGCTGCTGTCTGGACGTCTGGACCCTGCCATGTGGATTATAAACCCAAAGTGTACAGCCCTAGGCGGGAGGGGG
TGGCGCTTCTCAGCCGGCTGTCCCAGCCAGCCCCGCAGAGCGCCCACGGACAGTGTCCACTCTGGCAAGGTGGGAAAAGGCACTCCAAGT
GCATCCTCCACTGGCAACAGTGGGACAATTGCCCCCGACGGCGGCACCGGGGCTCTGTGGAATCCCGATCGTTCCGAGAGGTCTGGAGGG
CCCCGTGGTTCCTGGAGAAAGCAGGACGCAGAGAAGAACAAATGAGGCTCACCCACGAGGCTGGGTGGCCAGCAGTCTGGGCACACACGA
GCAGGTGGCATCTTGGCTCTTGCCTGAGGCCAGTCACCCTGCCCTGAATTCTATCCTACTCCACCTTCAGCCCCTCCCTCGGGGGTAGCG
CCTCTCATTCCTGATGTCTCAGGCAACCCTGGCAGACCCAGGTCCAACTGCTGGGGTCCAAGAACCAATTACCAAAGGAAAGATCATCAG
AGGCTGAAATCTAGAACTTCATCCCGGGCAATGAGGTTCTCACAGAAGGTGCAGTTTTATAACTAACTACGTCCACTTATATATATTCAC
ACTCTACATATATATATATATATATATATATATATATATATATATATATACACAAATGCACAGTCCCCCTCCCACTCCGTTACCTAACTG
TACGTCTTTTCATGTTTATAAACTATACAGAAAACTGTATTTGCTGAACTAAGGATTGTATTGGTGATTTCTAGCAAAAACAAAGTGATA
GAATTTTTGTCTAGAATCCCAAACTGGCAACGATAGTCTCCAAGGGACCTGGCCTTGCCAAGGGCCTGGGGCAAGGTGTCGGCGGGACGG
TGAGGAAGGGGGAGGCAGCAAGAGTCACTTTGGGGGACCAATATTCTTAGATATTTAGAGCATCACCTTGTTTTTATATGCAACACAAGC
CTGTCTGCCACCCTGGAGCGCCCTGTCACCCCTGCTGTCGTAGCTGTTGGCTTCAGGGTGAGAAGTGAGAAGCAGCTTATTGTATATGAG
GGAGCCAGGCCCCGAGGGTGAGCGAGATGGAGAAGGGGAAGGAAGGGGCTTTGGGATCTGGAAACCAGCAGGCCAGGCAGCATCCACAGT
GTTAGTCCAAAGGGTCGGACCGTGTCGTCAGCCTAGCGTTTGGTCAGTGACGGCCTGGACGGGCCAAGGAGACTCCGGGCTTGAGCCCAG
GCCTCCCGCACGGCTCAGCTGCTGAATTTTTCCTTGAGGCTGTTTGGTGTGTGACCCAGCAAGGGCCCTGTGTGGGACAGCAGGAGGGAG
GCGTCGGGGGCCTTAGCAGAAGGGGAACAATGAGGGCATTTCATGAACCATCTCAGGCACTTCTGCATCACGGAAGACCTGGCCCTCCCA
GCCGTCCTGGGGATGCTCAGGGTGCAGGCAGAGGCTCGGGAGGCCGGACTCAGGGGTCAGAAGCAGGGACTGGGGCAGGCGAGCCCGGAC
AGGGAAGAGGGGCTCCGATCAAAGCCGGCCGTGCTGCTGGCCGGGGGCCCAGGTGGGTACAAGCTCCTTTGTGCTTTGCACAAACCTGAA
TCCCCCACCAGAGAGGATGTGTGTGAGGAGCCAGAAACGCTGAATCCAATTAAGAGAGAAAAATAATAATAACAATAAATGATCTTGGAC

>In-frame_ENST00000446250_ENST00000331238_TCGA-29-1702-01A_VPS53_chr17_505035_-_RTN4RL1_chr17_1841102_length(amino acids)=432AA_start in transcript=1477_stop in transcript=2775
MLLLLVAAELPLGGGCPRDCVCYPAPMTVSCQAHNFAAIPEGIPVDSERVFLQNNRIGLLQPGHFSPAMVTLWIYSNNITYIHPSTFEGF
VHLEELDLGDNRQLRTLAPETFQGLVKLHALYLYKCGLSALPAGVFGGLHSLQYLYLQDNHIEYLQDDIFVDLVNLSHLFLHGNKLWSLG
PGTFRGLVNLDRLLLHENQLQWVHHKAFHDLRRLTTLFLFNNSLSELQGECLAPLGALEFLRLNGNPWDCGCRARSLWEWLQRFRGSSSA
VPCVSPGLRHGQDLKLLRAEDFRNCTGPASPHQIKSHTLTTTDRAARKEHHSPHGPTRSKGHPHGPRPGHRKPGKNCTNPRNRNQISKAG

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

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Fusion Gene PPI Analysis for VPS53-RTN4RL1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for VPS53-RTN4RL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for VPS53-RTN4RL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVPS53C4014488PONTOCEREBELLAR HYPOPLASIA, TYPE 2E3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneVPS53C0266468Congenital pontocerebellar hypoplasia1GENOMICS_ENGLAND
HgeneVPS53C0424605Developmental delay (disorder)1GENOMICS_ENGLAND
HgeneVPS53C0557874Global developmental delay1GENOMICS_ENGLAND
HgeneVPS53C3714756Intellectual Disability1GENOMICS_ENGLAND