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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 40905

FusionGeneSummary for URI1_C19orf12

check button Fusion gene summary
Fusion gene informationFusion gene name: URI1_C19orf12
Fusion gene ID: 40905
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 date2018052320180519
UniProtAcc

O94763

Q9NSK7

Ensembl transtripts involved in fusion geneENST00000360605, ENST00000542441, 
ENST00000392271, ENST00000312051, 
ENST00000574176, 		ENST00000323670, 
ENST00000392276, ENST00000592153, 
ENST00000392275, ENST00000392278, 
Fusion gene scores* DoF score22 X 6 X 12=15842 X 2 X 1=4
# samples 232
** MAII scorelog2(23/1584*10)=-2.78386656913523
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSTADTCGA-BR-8289-01AURI1chr19

30433571

+C19orf12chr19

30193884

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000360605ENST00000323670URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000360605ENST00000392276URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000360605ENST00000592153URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000360605ENST00000392275URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000360605ENST00000392278URI1chr19

30433571

+C19orf12chr19

30193884

-
In-frameENST00000542441ENST00000323670URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000542441ENST00000392276URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000542441ENST00000592153URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000542441ENST00000392275URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000542441ENST00000392278URI1chr19

30433571

+C19orf12chr19

30193884

-
5UTR-3CDSENST00000392271ENST00000323670URI1chr19

30433571

+C19orf12chr19

30193884

-
5UTR-5UTRENST00000392271ENST00000392276URI1chr19

30433571

+C19orf12chr19

30193884

-
5UTR-5UTRENST00000392271ENST00000592153URI1chr19

30433571

+C19orf12chr19

30193884

-
5UTR-5UTRENST00000392271ENST00000392275URI1chr19

30433571

+C19orf12chr19

30193884

-
5UTR-5UTRENST00000392271ENST00000392278URI1chr19

30433571

+C19orf12chr19

30193884

-
Frame-shiftENST00000312051ENST00000323670URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000312051ENST00000392276URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000312051ENST00000592153URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000312051ENST00000392275URI1chr19

30433571

+C19orf12chr19

30193884

-
5CDS-5UTRENST00000312051ENST00000392278URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-3CDSENST00000574176ENST00000323670URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000574176ENST00000392276URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000574176ENST00000592153URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000574176ENST00000392275URI1chr19

30433571

+C19orf12chr19

30193884

-
intron-5UTRENST00000574176ENST00000392278URI1chr19

30433571

+C19orf12chr19

30193884

-

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FusionProtFeatures for URI1_C19orf12


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

O94763

C19orf12

Q9NSK7

Involved in gene transcription regulation. Acts as atranscriptional repressor in concert with the corepressor UXT toregulate androgen receptor (AR) transcription. May act as a tumorsuppressor to repress AR-mediated gene transcription and toinhibit anchorage-independent growth in prostate cancer cells.Required for cell survival in ovarian cancer cells. Together withUXT, associates with chromatin to the NKX3-1 promoter region.Antagonizes transcriptional modulation via hepatitis B virus Xprotein. Plays a central role in maintaining S6K1 signaling andBAD phosphorylation under normal growth conditions therebyprotecting cells from potential deleterious effects of sustainedS6K1 signaling. The URI1-PPP1CC complex acts as a centralcomponent of a negative feedback mechanism that counteractsexcessive S6K1 survival signaling to BAD in response to growthfactors. Mediates inhibition of PPP1CC phosphatase activity inmitochondria. Coordinates the regulation of nutrient-sensitivegene expression availability in a mTOR-dependent manner. Seems tobe a scaffolding protein able to assemble a prefoldin-like complexthat contains PFDs and proteins with roles in transcription andubiquitination.

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

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


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FusionGeneSequence for URI1_C19orf12


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_URI1_ENST00000542441_chr19_30433571_+_C19orf12_ENST00000323670_chr19_30193884_-_127aa
MEAPTVETPPDPSPPSAPAPALVPLRAPDVARLREEQEKGGLSGGCXVPGXQVDSLSRFLRSXWSCPLPSNRGSLTKPQPSSGTWSGRTP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_URI1_ENST00000542441_chr19_30433571_+_C19orf12_ENST00000323670_chr19_30193884_-_383nt
ATGGAGGCGCCCACCGTGGAGACGCCCCCCGACCCCTCGCCCCCTTCGGCCCCGGCCCCTGCCCTGGTTCCGTTGCGCGCCCCGGATGTG
GCGCGGCTGCGCGAGGAGCAGGAAAAGGGGGGGCTGTCGGGGGGCTGTTAGGTGCCTGGATGACAAGTGGACAGTTTAAGCCGGTTCCTC
AGATCCTAATGGAGCTGCCCCCTGCCGAGCAACAGAGGCTCTTTAACGAAGCCGCAGCCATCATCAGGCACCTGGAGTGGACGGACGCCG
TGCAGCTGACCGCGCTGGTCATGGGCAGCGAGGCCCTGCAGCAGCAGCTGCTGGCCATGCTGGTGAACTACGTCACCAAGGAGCTGCGGG


* Fusion transcript sequences (Full-length transcript).
>In-frame_URI1_ENST00000542441_chr19_30433571_+_C19orf12_ENST00000323670_chr19_30193884_-_2578nt
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


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FusionGenePPI 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
URI1DMAP1, URI1, POLR2E, RPAP2, RPAP3, RUVBL2, GPN1, UXT, APP, HSP90AA1, PPP1CC, RPS6KB1, RUVBL1, TTI1, ATF7, ITCH, NEDD4, PIH1D1, PPP1CA, SCP2, SKAP1, PPP1R3A, PDRG1, BLM, KRAS, HERC2, OFD1, NPHP1, XPO1, PPP1CB, POLR1A, POLR3E, PPEF2, ASB7, PFDN2, ZBBX, PPP1R7, ZNHIT2, TBC1D7, TSC1, POLR1C, POLR2A, POLR2B, POLR3A, POLR3B, PRPF8, TANGO6, WDR92, LMNA, PFDN6, PKP3, POLR3D, YWHAB, POLR2H, GPN3, MAT2A, RPL12P2, SUPT6H, KRT18, PCBP2, NOP58, PPP2CB, TRIM28, NOC4L, ZC3HAV1, RPRD1B, POLR1D, DNAJA2, PFDN5, PPP2R1A, PPP2CAC19orf12IKBKG, APP


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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RelatedDrugs for URI1_C19orf12


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for URI1_C19orf12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneURI1C0027659Neoplasms, Experimental1CTD_human
HgeneURI1C0919267ovarian neoplasm1CTD_human
TgeneC19orf12C3280371NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 47ORPHANET;UNIPROT
TgeneC19orf12C0919267ovarian neoplasm1CTD_human