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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:URI1-C19orf12 (FusionGDB2 ID:97067)

Fusion Gene Summary for URI1-C19orf12

check button Fusion gene summary
Fusion gene informationFusion gene name: URI1-C19orf12
Fusion gene ID: 97067
HgeneTgene
Gene symbol

URI1

C19orf12

Gene ID

8725

83636

Gene nameURI1 prefoldin like chaperonechromosome 19 open reading frame 12
SynonymsC19orf2|NNX3|PPP1R19|RMP|URIMPAN|NBIA3|NBIA4|SPG43
Cytomap

19q12

19q12

Type of geneprotein-codingprotein-coding
Descriptionunconventional prefoldin RPB5 interactor 1RNA polymerase II subunit 5-mediating proteinRPB5-mediating proteinprotein phosphatase 1, regulatory subunit 19protein C19orf12membrane protein-associated neurodegenerationneurodegeneration with brain iron accumulation 3
Modification date2020031320200313
UniProtAcc

O94763

Q9NSK7

Ensembl transtripts involved in fusion geneENST00000312051, ENST00000542441, 
ENST00000392271, ENST00000360605, 
ENST00000574176, 		ENST00000392275, 
ENST00000392276, ENST00000392278, 
ENST00000592153, ENST00000323670, 
Fusion gene scores* DoF score30 X 13 X 12=46802 X 2 X 1=4
# samples 402
** MAII scorelog2(40/4680*10)=-3.54843662469604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: URI1 [Title/Abstract] AND C19orf12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointURI1(30433571)-C19orf12(30193884), # samples:3
Anticipated loss of major functional domain due to fusion event.URI1-C19orf12 seems lost the major protein functional domain in Hgene 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
HgeneURI1

GO:0000122

negative regulation of transcription by RNA polymerase II

12737519|15367675|21730289

HgeneURI1

GO:0001558

regulation of cell growth

21730289

HgeneURI1

GO:0071363

cellular response to growth factor stimulus

17936702

HgeneURI1

GO:0071383

cellular response to steroid hormone stimulus

21730289


check buttonFusion gene breakpoints across URI1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across C19orf12 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4STADTCGA-BR-8289-01AURI1chr19

30433571

+C19orf12chr19

30193884

-
ChimerDB4STADTCGA-BR-8289URI1chr19

30433571

+C19orf12chr19

30193884

-


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Fusion Gene ORF analysis for URI1-C19orf12

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
5CDS-5UTRENST00000312051ENST00000392275URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000312051ENST00000392276URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000312051ENST00000392278URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000312051ENST00000592153URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000542441ENST00000392275URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000542441ENST00000392276URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000542441ENST00000392278URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000542441ENST00000592153URI1chr19

30433571

+C19orf12chr19

30193884

-
5UTR-3CDSENST00000392271ENST00000323670URI1chr19

30433571

+C19orf12chr19

30193884

-
5UTR-5UTRENST00000392271ENST00000392275URI1chr19

30433571

+C19orf12chr19

30193884

-
5UTR-5UTRENST00000392271ENST00000392276URI1chr19

30433571

+C19orf12chr19

30193884

-
5UTR-5UTRENST00000392271ENST00000392278URI1chr19

30433571

+C19orf12chr19

30193884

-
5UTR-5UTRENST00000392271ENST00000592153URI1chr19

30433571

+C19orf12chr19

30193884

-
Frame-shiftENST00000312051ENST00000323670URI1chr19

30433571

+C19orf12chr19

30193884

-
In-frameENST00000542441ENST00000323670URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-3CDSENST00000360605ENST00000323670URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-3CDSENST00000574176ENST00000323670URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000360605ENST00000392275URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000360605ENST00000392276URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000360605ENST00000392278URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000360605ENST00000592153URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000574176ENST00000392275URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000574176ENST00000392276URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000574176ENST00000392278URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000574176ENST00000592153URI1chr19

30433571

+C19orf12chr19

30193884

-

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)
ENST00000542441URI1chr1930433571+ENST00000323670C19orf12chr1930193884-2578414947124699

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
ENST00000542441ENST00000323670URI1chr1930433571+C19orf12chr1930193884-0.33530820.6646918

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Fusion Genomic Features for URI1-C19orf12


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.
genomic feature

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 URI1-C19orf12


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:30433571/chr19:30193884)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
URI1

O94763

C19orf12

Q9NSK7

FUNCTION: Involved in gene transcription regulation. Acts as a transcriptional repressor in concert with the corepressor UXT to regulate androgen receptor (AR) transcription. May act as a tumor suppressor to repress AR-mediated gene transcription and to inhibit anchorage-independent growth in prostate cancer cells. Required for cell survival in ovarian cancer cells. Together with UXT, associates with chromatin to the NKX3-1 promoter region. Antagonizes transcriptional modulation via hepatitis B virus X protein.; FUNCTION: Plays a central role in maintaining S6K1 signaling and BAD phosphorylation under normal growth conditions thereby protecting cells from potential deleterious effects of sustained S6K1 signaling. The URI1-PPP1CC complex acts as a central component of a negative feedback mechanism that counteracts excessive S6K1 survival signaling to BAD in response to growth factors. Mediates inhibition of PPP1CC phosphatase activity in mitochondria. Coordinates the regulation of nutrient-sensitive gene expression availability in a mTOR-dependent manner. Seems to be a scaffolding protein able to assemble a prefoldin-like complex that contains PFDs and proteins with roles in transcription and ubiquitination.

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
TgeneC19orf12chr19:30433571chr19:30193884ENST000003236701351_7153142.0TransmembraneHelical
TgeneC19orf12chr19:30433571chr19:30193884ENST000003922760251_71078.0TransmembraneHelical
TgeneC19orf12chr19:30433571chr19:30193884ENST000005921531451_7153108.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneURI1chr19:30433571chr19:30193884ENST00000360605+111299_3110476.0Compositional biasNote=Poly-Asp
HgeneURI1chr19:30433571chr19:30193884ENST00000360605+111314_3210476.0Compositional biasNote=Poly-Asp
HgeneURI1chr19:30433571chr19:30193884ENST00000392271+111299_3110460.0Compositional biasNote=Poly-Asp
HgeneURI1chr19:30433571chr19:30193884ENST00000392271+111314_3210460.0Compositional biasNote=Poly-Asp
HgeneURI1chr19:30433571chr19:30193884ENST00000542441+111299_31139536.0Compositional biasNote=Poly-Asp
HgeneURI1chr19:30433571chr19:30193884ENST00000542441+111314_32139536.0Compositional biasNote=Poly-Asp
TgeneC19orf12chr19:30433571chr19:30193884ENST000003922781351_7164153.0TransmembraneHelical


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Fusion Gene Sequence for URI1-C19orf12


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.
>97067_97067_1_URI1-C19orf12_URI1_chr19_30433571_ENST00000542441_C19orf12_chr19_30193884_ENST00000323670_length(transcript)=2578nt_BP=414nt
GCGGCCGCCACGCGACGCCTGGCTGGGCCCGCACCGGAGAGGCGTCTCGGTACCTGGCAGGCGGCCTGCTACTCGGAGCCCGCTGCGGGG
CGGCGGCGGCGGGGACATGCACGTGTGAGATGCGGCAGCGGGCGGCGCGGACGCGAACAGCAGCGGCGGCGGCGGGCGCGGCCTCCTGGG
CGCGGGGCGCGCGGTGCCTGAGGGCGGGCGCGCGGGCGCTGGGCAACTGCCGGCCGCGCCGCCTGCGCAGGCGCTGGTTCAGGACTCACA
CGCCGCGCTGAGGCCCGCGGGCCCGTCATGGAGGCGCCCACCGTGGAGACGCCCCCCGACCCCTCGCCCCCTTCGGCCCCGGCCCCTGCC
CTGGTTCCGTTGCGCGCCCCGGATGTGGCGCGGCTGCGCGAGGAGCAGGAAAAGGGGGGGCTGTCGGGGGGCTGTTAGGTGCCTGGATGA
CAAGTGGACAGTTTAAGCCGGTTCCTCAGATCCTAATGGAGCTGCCCCCTGCCGAGCAACAGAGGCTCTTTAACGAAGCCGCAGCCATCA
TCAGGCACCTGGAGTGGACGGACGCCGTGCAGCTGACCGCGCTGGTCATGGGCAGCGAGGCCCTGCAGCAGCAGCTGCTGGCCATGCTGG
TGAACTACGTCACCAAGGAGCTGCGGGCCGAGATCCAGTATGATGACTAGGCCGCACCTCCGGGGAGGTGGGGGGCCCCTTTAAATGACT
CTGTGATTCTGAAGAGGTGGCTTGGGAGTTGGGAGAAGCCCAGCGGATGCCCCCTGGGGAATCTCCACATCATCAGTGTATTACTAGTAA
TGTCCCGCTGGAGAGGCCACCGCTGTGCAGTGTCATGTTCCAGAAATTACTGATGAAGCAGCATGTGTTGGTGGCATGTGCACTGGCCTG
CCATGACAGCCCTCTGACTGGCCCCCCAGTGAAGAGTAAAGGCCTGCCTGCCGCAGGCTTCGGAGGCGTCTGCTGAGTCCTCTCACCCGC
ATGGGTCTGGGGAAGTGATCACGCTCAGCCGACGGTCTGACCACACTTCATCCTCCCCCCGGGGCCTTCTCATCTTGGGAGATGACTCCT
CTTCAGAGCACCTGCTGCAGGACTGGATCCCACCCCCCTGCAGGTCCTGGGGTCTCAGGGCCTTGGAGCAGCCCATGCTGGAATCATGTT
TACCTCCTAGTGCAACCGTCCCCTACCCAGGGACTGTCGAATGGCCCCACGGAGGGGACGGGCGGCCTGCTGAGTGAAGCCACAAATACC
GAGTGGACTTGACCCCGGCCCCCACTAGGCTGCACACCTAGACTCGCCCTGCCAGGGCCTCGCTCTTCCCATCTGAAAAGTCCTGGTAGT
TCTTGAGGTTTACTTCTCAAATGAAATATTTTTAGTAAAAAGTACAGGTATATCTCGGAGATATTGTGGGTTCAGTTCCAGACCACCTCG
GTAAAGCCAACATCACAATAAAGCAAGGAAGCGCATTGTTTTAGTTTCCCAGTGCATCTAAGTCATGTTTACTGCATATTGCAGTCCACT
AAATGTGCAATAGCATTATGTCTAACAAATGTACAAACCTTAATTTAAAAATATTTACTGTTCAAAATGCTGACACAGAAACGCAAAGTG
AGCACATGCTGTTGGAAAATGGTGCCAAATAGACTTGCCTGATGCCAGGCTGCTACAAACCTTCAATTTAAAAAAAAAACACAGTATTCA
CAAAGCATAGTAGAATGAGGTATGCCTGTATTGCTCTTTCTGAAGTGGTGTGATATAAACCATCTCTAAGAAATGTTTCTACCCTAAAGA
TTTCCCCAGTACAGTCAGCTCTCCGTAACTGTGGTCTCCACATTTAGATCCAACCAGCCTTGGATAGGAAATATTTGAAAAAAGAAATTG
CATTGGTACTGAACACGTACAGACCTTTTTTTCTTGCCATTATTCCCTAAACAATATGGTGTAGCATATTTACATAGCATTTATATTGTA
TTTGGTATTATAAGAAATCTAGAGATGATTTAAATTATACAGGAAGGTGTGCGTAGGTTACGTGCAAACGCTATGCCATTGCCCATCAGG
GACTTGAGCATCCTCAGATGTCGGTGTCTGAGGGTTGAGGTTGCAGTCCTGGAACCCATCCCCCATGGATACTGAGGCATAGCTGTACTG
TGTGTTTTCACTTTGCTTTCAGAACTACGACTTGAATGTGATCGATTACAATAAATGTTTTTCTAAAAAGCCATTTTCCCACATATTATG
TGTAAAATATCTCTAATATTCAAAGTCTTACAAATGGAACAAGAGGGAAGGTACCAGATTTGTGGCTTTAAAGAATGCAAGAGTAGGTCA
GGTGAGGTGGCTCATGCTTGTAATGTCGGCACTTTTGGAGGCCAAAGTGGGAGGATCGCTTGAGGCCAAGAGTTTGAAACTAGCCTGGGC
AATATAGTGAGACCTCCATCTCTACAAAAAATGTTATTCCTTGGTCCCCAGGTCCTGGGGCAGGGCAGGGACTTGGGGCTCTCCTCTCAG

>97067_97067_1_URI1-C19orf12_URI1_chr19_30433571_ENST00000542441_C19orf12_chr19_30193884_ENST00000323670_length(amino acids)=99AA_BP=
MPQASEASAESSHPHGSGEVITLSRRSDHTSSSPRGLLILGDDSSSEHLLQDWIPPPCRSWGLRALEQPMLESCLPPSATVPYPGTVEWP

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

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Fusion Gene PPI Analysis for URI1-C19orf12


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 URI1-C19orf12


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 URI1-C19orf12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource