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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-CHTOP (FusionGDB2 ID:97806)

Fusion Gene Summary for VPS53-CHTOP

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS53-CHTOP
Fusion gene ID: 97806
HgeneTgene
Gene symbol

VPS53

CHTOP

Gene ID

55275

26097

Gene nameVPS53 subunit of GARP complexchromatin target of PRMT1
SynonymsHCCS1|PCH2E|hVps53L|pp13624C10orf77|C1orf77|FL-SRAG|FOP|SRAG|SRAG-3|SRAG-5|pp7704
Cytomap

17p13.3

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 53 homologVPS53, GARP complex subunitchromatin target of PRMT1 proteinfriend of PRMT1 proteinsmall protein rich in arginine and glycine
Modification date2020031320200313
UniProtAcc.

Q9Y3Y2

Ensembl transtripts involved in fusion geneENST00000437048, ENST00000574029, 
ENST00000576149, ENST00000446250, 
ENST00000291074, ENST00000571805, 
ENST00000401468, 		ENST00000368694, 
ENST00000495554, ENST00000403433, 
ENST00000368690, ENST00000368687, 
ENST00000368686, 
Fusion gene scores* DoF score18 X 15 X 14=37805 X 7 X 5=175
# samples 248
** MAII scorelog2(24/3780*10)=-3.97727992349992
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/175*10)=-1.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointVPS53(456620)-CHTOP(153614719), # samples:1
Anticipated loss of major functional domain due to fusion event.VPS53-CHTOP seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
VPS53-CHTOP seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
VPS53-CHTOP seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor 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
TgeneCHTOP

GO:0006406

mRNA export from nucleus

23299939

TgeneCHTOP

GO:0032781

positive regulation of ATPase activity

23299939

TgeneCHTOP

GO:0051096

positive regulation of helicase activity

23299939


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 CHTOP (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
ChimerDB4Non-CancerERR315330VPS53chr17

456620

-CHTOPchr1

153614719

+


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Fusion Gene ORF analysis for VPS53-CHTOP

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-shiftENST00000437048ENST00000368694VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000437048ENST00000495554VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000437048ENST00000403433VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000437048ENST00000368690VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000437048ENST00000368687VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000437048ENST00000368686VPS53chr17

456620

-CHTOPchr1

153614719

+
intron-3CDSENST00000574029ENST00000368694VPS53chr17

456620

-CHTOPchr1

153614719

+
intron-intronENST00000574029ENST00000495554VPS53chr17

456620

-CHTOPchr1

153614719

+
intron-intronENST00000574029ENST00000403433VPS53chr17

456620

-CHTOPchr1

153614719

+
intron-intronENST00000574029ENST00000368690VPS53chr17

456620

-CHTOPchr1

153614719

+
intron-intronENST00000574029ENST00000368687VPS53chr17

456620

-CHTOPchr1

153614719

+
intron-intronENST00000574029ENST00000368686VPS53chr17

456620

-CHTOPchr1

153614719

+
5UTR-3CDSENST00000576149ENST00000368694VPS53chr17

456620

-CHTOPchr1

153614719

+
5UTR-intronENST00000576149ENST00000495554VPS53chr17

456620

-CHTOPchr1

153614719

+
5UTR-intronENST00000576149ENST00000403433VPS53chr17

456620

-CHTOPchr1

153614719

+
5UTR-intronENST00000576149ENST00000368690VPS53chr17

456620

-CHTOPchr1

153614719

+
5UTR-intronENST00000576149ENST00000368687VPS53chr17

456620

-CHTOPchr1

153614719

+
5UTR-intronENST00000576149ENST00000368686VPS53chr17

456620

-CHTOPchr1

153614719

+
In-frameENST00000446250ENST00000368694VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000446250ENST00000495554VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000446250ENST00000403433VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000446250ENST00000368690VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000446250ENST00000368687VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000446250ENST00000368686VPS53chr17

456620

-CHTOPchr1

153614719

+
Frame-shiftENST00000291074ENST00000368694VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000291074ENST00000495554VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000291074ENST00000403433VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000291074ENST00000368690VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000291074ENST00000368687VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000291074ENST00000368686VPS53chr17

456620

-CHTOPchr1

153614719

+
Frame-shiftENST00000571805ENST00000368694VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000571805ENST00000495554VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000571805ENST00000403433VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000571805ENST00000368690VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000571805ENST00000368687VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000571805ENST00000368686VPS53chr17

456620

-CHTOPchr1

153614719

+
Frame-shiftENST00000401468ENST00000368694VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000401468ENST00000495554VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000401468ENST00000403433VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000401468ENST00000368690VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000401468ENST00000368687VPS53chr17

456620

-CHTOPchr1

153614719

+
5CDS-intronENST00000401468ENST00000368686VPS53chr17

456620

-CHTOPchr1

153614719

+

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)
ENST00000446250VPS53chr17456620-ENST00000368694CHTOPchr1153614719+359720328392038399

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
ENST00000446250ENST00000368694VPS53chr17456620-CHTOPchr1153614719+0.0010018460.9989981

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Fusion Genomic Features for VPS53-CHTOP


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)
VPS53chr17456619-CHTOPchr1153614718+0.0070666050.9929334
VPS53chr17456619-CHTOPchr1153614718+0.0070666050.9929334

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-CHTOP


check button Go to

FGviewer for the breakpoints of chr17:456620-chr1:153614719

.
- 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
.CHTOP

Q9Y3Y2

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: Plays an important role in the ligand-dependent activation of estrogen receptor target genes (PubMed:19858291). May play a role in the silencing of fetal globin genes (PubMed:20688955). Recruits the 5FMC complex to ZNF148, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (By similarity). Plays an important role in the tumorigenicity of glioblastoma cells. Binds to 5-hydroxymethylcytosine (5hmC) and associates with the methylosome complex containing PRMT1, PRMT5, MEP50 and ERH. The CHTOP-methylosome complex associated with 5hmC is recruited to selective sites on the chromosome, where it methylates H4R3 and activates the transcription of genes involved in glioblastomagenesis (PubMed:25284789). {ECO:0000250|UniProtKB:Q9CY57, ECO:0000269|PubMed:19858291, ECO:0000269|PubMed:20688955, ECO:0000269|PubMed:25284789}.; FUNCTION: Required for effective mRNA nuclear export and is a component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Stimulates DDX39B ATPase and helicase activities. In cooperation with ALYREF/THOC4 enhances NXF1 RNA binding activity (PubMed:23299939). {ECO:0000269|PubMed:23299939}.

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
HgeneVPS53chr17:456620chr1:153614719ENST00000291074-151897_138566.6666666666666671.0Coiled coilOntology_term=ECO:0000255
HgeneVPS53chr17:456620chr1:153614719ENST00000437048-162297_138595.6666666666666833.0Coiled coilOntology_term=ECO:0000255
HgeneVPS53chr17:456620chr1:153614719ENST00000571805-161997_138595.6666666666666700.0Coiled coilOntology_term=ECO:0000255
TgeneCHTOPchr17:456620chr1:153614719ENST000003686901487_20873.0203.0Compositional biasNote=Arg/Gly-rich
TgeneCHTOPchr17:456620chr1:153614719ENST000003686942687_20873.0249.0Compositional biasNote=Arg/Gly-rich
TgeneCHTOPchr17:456620chr1:153614719ENST000004034332587_20873.0203.0Compositional biasNote=Arg/Gly-rich
TgeneCHTOPchr17:456620chr1:153614719ENST0000036869014194_20373.0203.0MotifGAR motif%3B involved in 5hmC binding
TgeneCHTOPchr17:456620chr1:153614719ENST0000036869426194_20373.0249.0MotifGAR motif%3B involved in 5hmC binding
TgeneCHTOPchr17:456620chr1:153614719ENST0000040343325194_20373.0203.0MotifGAR motif%3B involved in 5hmC binding

- 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-CHTOP


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_ENST00000368694_ERR315330_VPS53_chr17_456620_-_CHTOP_chr1_153614719_length(transcript)=3597nt_BP=2032nt
GAAGTGCCGGAGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGG
CGGCTGGAGGCCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAG
GAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGAT
TTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAA
ATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGCGCTTGAAGAGGCTCAG
AAAGCTATCCAACAACTCTTTGGCAAAATCAAAGATATCAAAGACAAAGCTGAAAAATCAGAGCAAATGGTGAAAGAAATCACCCGTGAT
ATTAAGCAATTAGATCACGCCAAACGCCACCTGACCACCTCAATCACCACACTGAACCACCTGCACATGCTGGCAGGAGGTGTCGACTCC
CTCGAAGCCATGACCAGGCGAAGACAATACGGAGAAGTTGCTAATCTCCTTCAGGGTGTGATGAATGTCCTGGAGCACTTCCACAAGTAT
ATGGGGATTCCGCAGATCCGGCAGCTTTCCGAAAGGAAACCCAAAACACTGCAGCTGCATGGATTGAACTGGACGTGATGTGAAATGAAA
TAAGCCAGACACGGGAAGACAGATTCCTCATGTTCTCACTCATAGTGAAGGCTGCACAGACTGAGTTAGGACAGCAAATCCTGGCAGATT
TTGAAGAAGCGTTTCCTTCCCAGGGCACCAAGAGACCAGGAGGACCCAGCAATGTTCTACGAGATGCATGTCTGGTTGCTAATATTCTAG
ATCCCAGGATCAAACAGGAAATCATCAAAAAGTTTATTAAACAGCATCTGTCAGAGTATCTGGTACTTTTTCAAGAAAACCAAGATGTTG
CCTGGCTGGACAAAATCGACAGACGCTATGCCTGGATAAAACGCCAGCTTGTGGACTATGAGGAGAAATACGGCCGCATGTTTCCACGTG
AGTGGTGCATGGCTGAGAGGATTGCGGTGGAATTTTGCCATGTGACAAGGGCAGAACTTGCCAAGATTATGCGTACCAGAGCGAAGGAAA
TTGAAGTGAAATTGCTTCTTTTTGCTATTCAAAGAACAACTAACTTTGAGGGGTTTCTTGCAAAACGCTTCTCCGGCTGCACCCTGACCG
ATGGGACCCTGAAAAAGCTTGAGTCTCCACCCCCATCTACCAATCCCTTCCTGGAAGATGAGCCAACACCAGAGATGGAGGAACTGGCAA
CGGAGAAAGGAGATTTAGATCAACCAAAGAAGCCTAAAGCCCCAGACAATCCATTTCATGGCATTGTTTCCAAGTGTTTTGAGCCTCATC
TCTACGTGTATATCGAATCCCAAGACAAGAACCTCGGAGAGCTGATAGATCGGTTTGTGGCTGATTTCAAAGCCCAGGGGCCACCTAAGC
CCAACACTGATGAAGGGGGTGCCGTGCTCCCCAGCTGCGCCGACCTCTTTGTCTACTACAAGAAGTGCATGGTGCAATGCTCTCAGCTCA
GTACTGGGGAGCCCATGATCGCCCTGACCACCATTTTCCAGAAGTACCTCCGAGAATACGCCTGGAAAATCCTCTCTGGCAACCTGCCCA
AAACCACAACCAGCAGTGGAGGACTGACTATCAGCAGCCTCCTCAAGGAAAAGGAGGGCTCAGAAGTAGCCAAGTTCACTCTGGAGGAGC
TCTGCCTCATCTGTAACATCCTGAGCACGGCAGAGTACTGTCTGGCCACCACCCAGCAGCTAGAAGAAAAACTCAAAGAAAAAGTGGATG
TAAGTCTGATTGAACGAATCAATCTGACTGGAGAGATGGACACGTTCAGCACAGCTTAAAGCAGCGCCTGGGTAAGAGTAACATCCAGGC
ACGGTTAGGCCGACCCATAGGGGCCCTGGCCAGGGGAGCAATCGGAGGACGAGGCCTACCCATAATCCAGAGAGGCTTGCCCAGAGGAGG
ACTACGTGGGGGACGTGCCACCAGAACCCTACTTAGGGGCGGGATGTCACTCCGAGGTCAAAACCTGCTCCGAGGTGGACGAGCCGTAGC
TCCCCGAATGGGCTTAAGAAGAGGTGGTGTTCGAGGTCGTGGAGGTCCTGGGAGAGGGGGCCTAGGGCGTGGAGCTATGGGTCGTGGCGG
AATCGGTGGTAGAGGTCGGGGTATGATAGGTCGGGGAAGAGGGGGCTTTGGAGGCCGAGGCCGAGGCCGTGGACGAGGGAGAGGTGCCCT
TGCTCGCCCTGTATTGACCAAGGAGCAGCTGGACAACCAATTGGATGCATATATGTCGAAAACAAAAGGACACCTGGATGCTGAGTTGGA
TGCCTACATGGCGCAGACAGATCCCGAAACCAATGATTGAAGCCTGCCCATCCTCCCATGAGAGACTCTTGTTAGTCAACACATCTGTAA
ATAACCTTGAGATAACAGATGAGAAGAAATCTGATTGATGCTGGATGGACCTATCACAATAGGCTGTGGACTTACTTGCCACCAGCTTGT
GCATTTAGTGTGTTCCTTTTACTTTTTGATACTGTGTTGTATGAAACCCTTTTGTCCTTTGATTTGGTTTTTTGTTTTTGTTTTTTTAGG
GGGGAGGGGGGGTTTCCCCTCCTTTGCCCAGACTTCTCTTTGAACACAAATGCATTAGCCTTGTGGCTAGAACACCCTCTTCCTACCTCT
GTCTCCCCTCACTTGTCATATGCTCTGACATGCTAACATTTCTTTTGTTCATCCCTGTTGCCCCCACAGAAACATCCCAGAAAAACCGGT
CAGTGTTCCTTCCTCCCTGATCCTTAGGTTTCTGAAATAGGGTTCTGTTACATCCTCTTCGATAGCCTGTTTAAAATGTTTAGAAGGTCT
GGAGCTCAAAAATGCGTTCTTCCACATTGATAATTTAGTAAACTGAGAACATTGACATCACTACAGGGCAGCATAAGAGGTTGCTTACAT
GTGGTAGCAGCTCTGGTTTGATTCAAGTTGCTACCATGTACATTGACAGCACATATACCATAACCAGCGTGTTGGGTTGAATTGCACTTT
CTACCTTTGTATGAGATTTACAGACTTTCCTTCTGGGTTTGTATCATGACCAGAGGGGTACTATAGGGTTGGTTTATACTGCAATATAGA
GGATCAGAAGCCATTTGATTTGGTAGGTGTGTCAGAAGGGAGAATGATGGCAGACGAACTGCTGGAAGAGGTCAGAAGATAGCCATGCTA
AAATGCAATTATATCCTCATGTTTATCCCAAACTAATCTTGGACTTTTCCACTCATTAGCTTTGTTTTGCCCTTGTTTCCCTTGAAGGTT

>In-frame_ENST00000446250_ENST00000368694_ERR315330_VPS53_chr17_456620_-_CHTOP_chr1_153614719_length(amino acids)=399AA_start in transcript=839_stop in transcript=2038
MFSLIVKAAQTELGQQILADFEEAFPSQGTKRPGGPSNVLRDACLVANILDPRIKQEIIKKFIKQHLSEYLVLFQENQDVAWLDKIDRRY
AWIKRQLVDYEEKYGRMFPREWCMAERIAVEFCHVTRAELAKIMRTRAKEIEVKLLLFAIQRTTNFEGFLAKRFSGCTLTDGTLKKLESP
PPSTNPFLEDEPTPEMEELATEKGDLDQPKKPKAPDNPFHGIVSKCFEPHLYVYIESQDKNLGELIDRFVADFKAQGPPKPNTDEGGAVL
PSCADLFVYYKKCMVQCSQLSTGEPMIALTTIFQKYLREYAWKILSGNLPKTTTSSGGLTISSLLKEKEGSEVAKFTLEELCLICNILST

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

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Fusion Gene PPI Analysis for VPS53-CHTOP


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
TgeneCHTOPchr17:456620chr1:153614719ENST0000036869014153_20673.0203.0PRMT1
TgeneCHTOPchr17:456620chr1:153614719ENST0000036869426153_20673.0249.0PRMT1
TgeneCHTOPchr17:456620chr1:153614719ENST0000040343325153_20673.0203.0PRMT1


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-CHTOP


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-CHTOP


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