FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:RORA-PTPN9 (FusionGDB2 ID:75400)

Fusion Gene Summary for RORA-PTPN9

check button Fusion gene summary
Fusion gene informationFusion gene name: RORA-PTPN9
Fusion gene ID: 75400
HgeneTgene
Gene symbol

RORA

PTPN9

Gene ID

6095

5780

Gene nameRAR related orphan receptor Aprotein tyrosine phosphatase non-receptor type 9
SynonymsIDDECA|NR1F1|ROR1|ROR2|ROR3|RZR-ALPHA|RZRAMEG2|PTPMEG2
Cytomap

15q22.2

15q24.2

Type of geneprotein-codingprotein-coding
Descriptionnuclear receptor ROR-alphaROR-alphanuclear receptor RZR-alphanuclear receptor subfamily 1 group F member 1retinoic acid receptor-related orphan receptor alpharetinoid-related orphan receptor alphathyroid hormone nuclear receptor alpha variant 4trantyrosine-protein phosphatase non-receptor type 9PTPase-MEG2protein-tyrosine phosphatase MEG2
Modification date2020032220200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000449337, ENST00000261523, 
ENST00000309157, ENST00000335670, 
ENST00000560004, 
ENST00000564970, 
ENST00000306726, 
Fusion gene scores* DoF score19 X 18 X 13=444611 X 9 X 5=495
# samples 2511
** MAII scorelog2(25/4446*10)=-4.1525079483649
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/495*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RORA [Title/Abstract] AND PTPN9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRORA(60884586)-PTPN9(75798344), # 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)

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

GO:0006355

regulation of transcription, DNA-templated

9328355

HgeneRORA

GO:0030522

intracellular receptor signaling pathway

19965867

HgeneRORA

GO:0036315

cellular response to sterol

19965867

HgeneRORA

GO:0045893

positive regulation of transcription, DNA-templated

7926749

HgeneRORA

GO:0045944

positive regulation of transcription by RNA polymerase II

17545671|19955433

TgenePTPN9

GO:0010977

negative regulation of neuron projection development

27655914

TgenePTPN9

GO:0035335

peptidyl-tyrosine dephosphorylation

27655914

TgenePTPN9

GO:1903078

positive regulation of protein localization to plasma membrane

27655914


check buttonFusion gene breakpoints across RORA (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 PTPN9 (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
ChimerDB4SARCTCGA-SI-AA8B-01ARORAchr15

60884586

-PTPN9chr15

75798344

-


Top

Fusion Gene ORF analysis for RORA-PTPN9

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-intronENST00000449337ENST00000564970RORAchr15

60884586

-PTPN9chr15

75798344

-
In-frameENST00000449337ENST00000306726RORAchr15

60884586

-PTPN9chr15

75798344

-
intron-3CDSENST00000261523ENST00000306726RORAchr15

60884586

-PTPN9chr15

75798344

-
intron-3CDSENST00000309157ENST00000306726RORAchr15

60884586

-PTPN9chr15

75798344

-
intron-3CDSENST00000335670ENST00000306726RORAchr15

60884586

-PTPN9chr15

75798344

-
intron-3CDSENST00000560004ENST00000306726RORAchr15

60884586

-PTPN9chr15

75798344

-
intron-intronENST00000261523ENST00000564970RORAchr15

60884586

-PTPN9chr15

75798344

-
intron-intronENST00000309157ENST00000564970RORAchr15

60884586

-PTPN9chr15

75798344

-
intron-intronENST00000335670ENST00000564970RORAchr15

60884586

-PTPN9chr15

75798344

-
intron-intronENST00000560004ENST00000564970RORAchr15

60884586

-PTPN9chr15

75798344

-

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)
ENST00000449337RORAchr1560884586-ENST00000306726PTPN9chr1575798344-29461551911297368

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
ENST00000449337ENST00000306726RORAchr1560884586-PTPN9chr1575798344-0.0003406890.9996593

Top

Fusion Genomic Features for RORA-PTPN9


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.

Top

Fusion Protein Features for RORA-PTPN9


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/chr15:60884586/chr15:75798344)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
TgenePTPN9chr15:60884586chr15:75798344ENST00000306726513303_574213594.0DomainTyrosine-protein phosphatase
TgenePTPN9chr15:60884586chr15:75798344ENST00000306726513515_521213594.0RegionSubstrate binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRORAchr15:60884586chr15:75798344ENST00000261523-112166_1690557.0Compositional biasNote=Poly-Gln
HgeneRORAchr15:60884586chr15:75798344ENST00000309157-111166_1690549.0Compositional biasNote=Poly-Gln
HgeneRORAchr15:60884586chr15:75798344ENST00000335670-111166_1690524.0Compositional biasNote=Poly-Gln
HgeneRORAchr15:60884586chr15:75798344ENST00000449337-110166_16910469.0Compositional biasNote=Poly-Gln
HgeneRORAchr15:60884586chr15:75798344ENST00000261523-11273_1380557.0DNA bindingNuclear receptor
HgeneRORAchr15:60884586chr15:75798344ENST00000309157-11173_1380549.0DNA bindingNuclear receptor
HgeneRORAchr15:60884586chr15:75798344ENST00000335670-11173_1380524.0DNA bindingNuclear receptor
HgeneRORAchr15:60884586chr15:75798344ENST00000449337-11073_13810469.0DNA bindingNuclear receptor
HgeneRORAchr15:60884586chr15:75798344ENST00000261523-112272_5100557.0DomainNR LBD
HgeneRORAchr15:60884586chr15:75798344ENST00000309157-111272_5100549.0DomainNR LBD
HgeneRORAchr15:60884586chr15:75798344ENST00000335670-111272_5100524.0DomainNR LBD
HgeneRORAchr15:60884586chr15:75798344ENST00000449337-110272_51010469.0DomainNR LBD
HgeneRORAchr15:60884586chr15:75798344ENST00000261523-112506_5230557.0MotifNote=AF-2
HgeneRORAchr15:60884586chr15:75798344ENST00000309157-111506_5230549.0MotifNote=AF-2
HgeneRORAchr15:60884586chr15:75798344ENST00000335670-111506_5230524.0MotifNote=AF-2
HgeneRORAchr15:60884586chr15:75798344ENST00000449337-110506_52310469.0MotifNote=AF-2
HgeneRORAchr15:60884586chr15:75798344ENST00000261523-112109_1330557.0Zinc fingerNR C4-type
HgeneRORAchr15:60884586chr15:75798344ENST00000261523-11273_930557.0Zinc fingerNR C4-type
HgeneRORAchr15:60884586chr15:75798344ENST00000309157-111109_1330549.0Zinc fingerNR C4-type
HgeneRORAchr15:60884586chr15:75798344ENST00000309157-11173_930549.0Zinc fingerNR C4-type
HgeneRORAchr15:60884586chr15:75798344ENST00000335670-111109_1330524.0Zinc fingerNR C4-type
HgeneRORAchr15:60884586chr15:75798344ENST00000335670-11173_930524.0Zinc fingerNR C4-type
HgeneRORAchr15:60884586chr15:75798344ENST00000449337-110109_13310469.0Zinc fingerNR C4-type
HgeneRORAchr15:60884586chr15:75798344ENST00000449337-11073_9310469.0Zinc fingerNR C4-type
TgenePTPN9chr15:60884586chr15:75798344ENST0000030672651384_243213594.0DomainCRAL-TRIO


Top

Fusion Gene Sequence for RORA-PTPN9


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.
>75400_75400_1_RORA-PTPN9_RORA_chr15_60884586_ENST00000449337_PTPN9_chr15_75798344_ENST00000306726_length(transcript)=2946nt_BP=155nt
TCTCGGCGGGCGGGCAGCTGCGGCAGCTGCTGCTGTGGCTCGGGCGGCGGCGGCGCGGCGGCGGCAGAGGGGGCTCCGGGGTCGGACCAT
CCGCTCTCCCTGCGCTCTCCGCACCGCGGCTTAAATGATGTATTTTGTGATCGCAGCGATGAAAGATTCAAATATTAAAGACATCTGAGG
TCACGCAGCATCTGCCCAGGGAGTGTCTTCCAGAAAACCTGGGTGGGTACGTCAAAATTGATCTCGCCACTTGGAATTTCCAGTTCCTAC
CCCAGGTGAACGGCCACCCAGATCCCTTCGATGAGATCATCCTGTTCTCCCTCCCTCCTGCCTTAGACTGGGACTCAGTACATGTTCCAG
GTCCCCATGCTATGACCATCCAAGAGTTGGTGGACTATGTTAATGCCAGGCAAAAGCAAGGAATCTATGAGGAATATGAAGACATTCGTC
GTGAGAACCCTGTTGGCACTTTCCACTGTTCCATGTCTCCAGGAAACCTAGAGAAAAACCGTTATGGGGATGTACCCTGCCTGGACCAAA
CTAGAGTGAAGCTAACAAAGCGAAGTGGCCATACTCAGACAGATTACATCAATGCCAGTTTCATGGATGGCTACAAGCAGAAGAATGCTT
ACATTGGCACACAAGGTCCTTTGGAGAATACCTATCGTGATTTCTGGCTCATGGTATGGGAGCAAAAAGTCTTGGTGATTGTCATGACCA
CCCGCTTTGAGGAAGGCGGCAGGAGAAAGTGTGGCCAGTACTGGCCTTTAGAAAAAGACTCTCGGATCCGATTTGGCTTCCTCACAGTGA
CCAATCTAGGCGTGGAGAACATGAATCATTATAAGAAAACAACGCTAGAAATTCACAACACAGAGGAACGGCAGAAACGCCAGGTGACCC
ACTTCCAGTTCTTGAGCTGGCCAGACTATGGTGTCCCTTCCTCAGCAGCTTCCCTCATTGACTTCTTGAGAGTGGTCAGAAACCAGCAGA
GTCTGGCTGTGAGCAACATGGGAGCACGCTCCAAAGGGCAGTGCCCTGAGCCACCCATTGTGGTCCATTGCAGTGCAGGCATTGGCAGGA
CAGGTACCTTCTGCTCACTGGACATCTGCCTGGCACAGCTGGAGGAGCTTGGCACCCTTAATGTGTTCCAGACGGTGTCACGCATGAGGA
CCCAGAGGGCCTTCAGCATCCAGACCCCTGAGCAGTACTATTTTTGCTACAAGGCCATCCTGGAGTTCGCAGAGAAGGAGGGCATGGTAT
CCTCTGGCCAAAACCTGCTGGCCGTGGAGAGTCAGTAACTCTCCTACGAACCTCCTACCTGTTGGCCAGCCTTCCTTAAACTACCCTGGA
CACCGCTGAGCCTATAGGTTGCCATCAGTTACGCTGAAGCCATGGATCAACTTCTTTCTTGTGTCTCCCAGCACACGTGTGCACGCAAGG
CAGCCTTTCCCTTTGGCTAGATAAATGTGGTGAAATTGCCACTAGAAAGGGCCAGTAGCAATGTGTTCTTAATTCCTAGCATCTGCTATC
AAACTGTGCCTTATTAAAACCAAATTGTGGCTATTGATTTTTGCTAGGGTCCCCGAGGTAAGTGGGGAAGGAACCTCCCTCCTCCTTTCT
CCCGCCATTCTTTTTCTGAGGTCTCCTGTCTCCCACTCCTTCCCTTTCCTAGGATTTTATGGGGAGGTTTGATGAGCATTTGCCTTTCTC
CCCAGAGAGCTTGACCAAGTTACATATTCTAGAGATCGTCCTGAGTGCCAAGCACGTTTATAAGTAGGGCGTGTATTCCAGTCCTTTCTG
TCATTCTGTGTGTGTGTGTGTGTGCACTTATGTGTATGGGTCCATATGTACGTGTGTATATAATATATATTGTATGTGATAATATGATCG
TATTCTATAAATACATATACACACGATACTCCTTTCCAGAAGTTCCTGGGGCTCCGTGTTGCAGTTCAGGACTCCTTGCTTCTTGGACCC
TACTATTTATCCTGGACTAGCTTGGGTTGGTGATCATGTCTCCTCTTGTCAGGCTACAGAGTGGTGGAAGAGGACACACACACATCTCCT
CCATGTTCCTGCCACAGGGCCCCTTCCTTAAGTAATGACTTATCTCCTTCCAGTTGCCACCTGTTGGAGCCAAGAATGTATTAGTTTGTG
GTGACACTGGGTTAGCTCAGCATGGATTTCCCTTATCCGATGATTTTTCTACATTTACTTGGCCAATTTGGGGAACAGACCTCCACTGTG
ATTCCATACTCTCTCTTTGCTTTCACTATCCCAGGGATGGGAGGCGGAGGGTAGAGATGAACTCACTGAGCAGCCAGAGCCAAATGCAAT
CGGTACGAATCTTAGAAGGAAGGAGGGGGAGCCCAGGTATGAGAAAGAAAAAACCACTAAGAAAATACCTCCCTGGGAGGATGAGCTGGG
GCCCTTTTTCTTTTGCTGGATGGTTCCTTTATGCAGCTTGGCCCTGTCTACCGAGATGCCCATCTCTTCCTGCCTGCTAGCCTGCTAGAC
CCTCAAACTGGGTGGGTTCTGTGTCAATAAAAAGCTTCACCCCCTGGCTGAGTGAGGTGGTCCCCTGCAATCACTGTTTGTCCCCTACCC
ACCCAACCTGTCCCTGCCTGCTCCCAGCCCACTCATCCTTATGTGCTAGGGATAAATCAAGAGTCCTCAGCACTCCACATTCCCAAAAAA
TCCCAGGAACTCCTAAACCTTCCCCTGTGACAGAAGATGAGGTTGGCAGCTGATCAGACCTCAATAATTTTATACTGTAATAAGCTCTTT
GAATGTGTATATTATTATTTTTTACAATCATTTCATTTTGTATTTAATATCAATGGACTGAGTCTGATTCAGAAAATAATTGTAATGTTC

>75400_75400_1_RORA-PTPN9_RORA_chr15_60884586_ENST00000449337_PTPN9_chr15_75798344_ENST00000306726_length(amino acids)=368AA_BP=
MPRECLPENLGGYVKIDLATWNFQFLPQVNGHPDPFDEIILFSLPPALDWDSVHVPGPHAMTIQELVDYVNARQKQGIYEEYEDIRRENP
VGTFHCSMSPGNLEKNRYGDVPCLDQTRVKLTKRSGHTQTDYINASFMDGYKQKNAYIGTQGPLENTYRDFWLMVWEQKVLVIVMTTRFE
EGGRRKCGQYWPLEKDSRIRFGFLTVTNLGVENMNHYKKTTLEIHNTEERQKRQVTHFQFLSWPDYGVPSSAASLIDFLRVVRNQQSLAV
SNMGARSKGQCPEPPIVVHCSAGIGRTGTFCSLDICLAQLEELGTLNVFQTVSRMRTQRAFSIQTPEQYYFCYKAILEFAEKEGMVSSGQ

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

Top

Fusion Gene PPI Analysis for RORA-PTPN9


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


Top

Related Drugs for RORA-PTPN9


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

Top

Related Diseases for RORA-PTPN9


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