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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ROBO1-MED12L

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ROBO1-MED12L
FusionPDB ID: 75258
FusionGDB2.0 ID: 75258
HgeneTgene
Gene symbol

ROBO1

MED12L

Gene ID

6091

116931

Gene nameroundabout guidance receptor 1mediator complex subunit 12L
SynonymsDUTT1|SAX3NOPAR|TNRC11L|TRALP|TRALPUSH
Cytomap

3p12.3

3q25.1

Type of geneprotein-codingprotein-coding
Descriptionroundabout homolog 1deleted in U twenty twentyroundabout, axon guidance receptor, homolog 1mediator of RNA polymerase II transcription subunit 12-like proteinmediator complex subunit 12 likemediator of RNA polymerase II transcription, subunit 12 homolog-likeno opposite paired repeat proteinthyroid hormone receptor-associated-like proteintr
Modification date2020031320200313
UniProtAcc.

Q86YW9

Ensembl transtripts involved in fusion geneENST idsENST00000436010, ENST00000464233, 
ENST00000467549, ENST00000495273, 
ENST00000466906, 
ENST00000309237, 
ENST00000422248, ENST00000491549, 
ENST00000273432, ENST00000474524, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score18 X 16 X 7=20162 X 2 X 2=8
# samples 182
** MAII scorelog2(18/2016*10)=-3.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context (manual curation of fusion genes in FusionPDB)

PubMed: ROBO1 [Title/Abstract] AND MED12L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ROBO1(78987751)-MED12L(150911277), # samples:2
Anticipated loss of major functional domain due to fusion event.ROBO1-MED12L seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ROBO1-MED12L seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ROBO1-MED12L seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ROBO1-MED12L seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ROBO1-MED12L seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
ROBO1-MED12L 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
HgeneROBO1

GO:0007156

homophilic cell adhesion via plasma membrane adhesion molecules

12504588

HgeneROBO1

GO:0021836

chemorepulsion involved in postnatal olfactory bulb interneuron migration

15207848

HgeneROBO1

GO:0050772

positive regulation of axonogenesis

12504588

HgeneROBO1

GO:0050925

negative regulation of negative chemotaxis

11748139


check buttonFusion gene breakpoints across ROBO1 (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 MED12L (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4LUSCTCGA-66-2781-01AROBO1chr3

78987751

-MED12Lchr3

150911277

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000464233ROBO1chr378987751-ENST00000474524MED12Lchr3150911277+935161362550821485
ENST00000464233ROBO1chr378987751-ENST00000273432MED12Lchr3150911277+543361362544941289

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
ENST00000464233ENST00000474524ROBO1chr378987751-MED12Lchr3150911277+0.0006174920.9993825
ENST00000464233ENST00000273432ROBO1chr378987751-MED12Lchr3150911277+0.0023790750.9976209

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>75258_75258_1_ROBO1-MED12L_ROBO1_chr3_78987751_ENST00000464233_MED12L_chr3_150911277_ENST00000273432_length(amino acids)=1289AA_BP=
MPGESCENANTSLGRRMSVNCEKLVKREKPRELIFPSNYDLLRHLQYATHFPIPLDESSSHECNQRTILLYGVGKERDEARHQLKKITKD
ILKILNKKSTTETGVGDEGQKARKNKQETFPTLETVFTKLQLLSYFDQHQVTSQISNNVLEQITSFASGTSYHLPLAHHIQLIFDLMEPA
LNINGLIDFAIQLLNELSVVEAELLLKSSSLAGSYTTGLCVCIVAVLRRYHSCLILNPDQTAQVFEGLCGVVKHVVNPSECSSPERCILA
YLYDLYVSCSHLRSKFGDLFSSACSKVKQTIYNNVMPANSNLRWDPDFMMDFIENPSARSINYSMLGKILSDNAANRYSFVCNTLMNVCM
GHQDAGRINDIANFSSELTACCTVLSSEWLGVLKALCCSSNHVWGFNDVLCTVDVSDLSFHDSLATFIAILIARQCFSLEDVVQHVALPS
LLAAACGDADAEPGARMTCRLLLHLFRAPQACFLPQATGKPFPGIRSSCDRHLLAAAHNSIEVGAVFAVLKAIMMLGDAKIGNNSVSSLK
NDDFTMRGLRCDGNADDIWTASQNPKSCGKSISIETANLREYARYVLRTICQQEWVGEHCLKEPERLCTDKELILDPVLSNMQAQKLLQL
ICYPHGIKECTEGDNLQRQHIKRILQNLEQWTLRQSWLELQLMIKQCLKDPGSGSVAEMNNLLDNIAKATIEVFQQSADLNNSSNSGMSL
FNPNSIGSADTSSTRQNGIKTFLSSSERRGVWLVAPLIARLPTSVQGRVLKAAGEELEKGQHLGSSSKKERDRQKQKSMSLLSQQPFLSL
VLTCLKGQDEQREGLLTSLQNQVNQILSNWREERYQDDIKARQMMHEALQLRLNLVGGMFDTVQRSTQWTTDWALLLLQIITSGTVDMHT
NNELFTTVLDMLGVLINGTLASDLSNASPGGSEENKRAYMNLVKKLKKELGDKRSESIDKVRQLLPLPKQTCDVITCEPMGSLIDTKGNK
IAGFDSIDKKQGLQVSTKQKVSPWDLFEGQKNPAPLSWAWFGTVRVDRRVIKYEEQHHLLLYHTHPMPKPRSYYLQPLPLPPEEEEEEPT
SPVSQEPERKSAELSDQGKTTTDEEKKTKGRKRKTKSSSRVDEYPQSNIYRVPPNYSPISSQMMHHPQSTLWGYNLVGQPQQPGFFLQNQ
SLTPGGSRLDPAGSFVPTNTKQALSNMLQRRSGAMMQPPSLHAITSQQQLIQMKLLQQQQQQRLLRQAQTRPFQQFPRQGLQQTQQQQQT

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>75258_75258_2_ROBO1-MED12L_ROBO1_chr3_78987751_ENST00000464233_MED12L_chr3_150911277_ENST00000474524_length(amino acids)=1485AA_BP=
MPGESCENANTSLGRRMSVNCEKLVKREKPRELIFPSNYDLLRHLQYATHFPIPLDESSSHECNQRTILLYGVGKERDEARHQLKKITKD
ILKILNKKSTTETGVGDEGQKARKNKQETFPTLETVFTKLQLLSYFDQHQVTSQISNNVLEQITSFASGTSYHLPLAHHIQLIFDLMEPA
LNINGLIDFAIQLLNELSVVEAELLLKSSSLAGSYTTGLCVCIVAVLRRYHSCLILNPDQTAQVFEGLCGVVKHVVNPSECSSPERCILA
YLYDLYVSCSHLRSKFGDLFSSACSKVKQTIYNNVMPANSNLRWDPDFMMDFIENPSARSINYSMLGKILSDNAANRYSFVCNTLMNVCM
GHQDAGRINDIANFSSELTACCTVLSSEWLGVLKALCCSSNHVWGFNDVLCTVDVSDLSFHDSLATFIAILIARQCFSLEDVVQHVALPS
LLAAACGDADAEPGARMTCRLLLHLFRAPQACFLPQATGKPFPGIRSSCDRHLLAAAHNSIEVGAVFAVLKAIMMLGDAKIGNNSVSSLK
NDDFTMRGLRCDGNADDIWTASQNPKSCGKSISIETANLREYARYVLRTICQQEWVGEHCLKEPERLCTDKELILDPVLSNMQAQKLLQL
ICYPHGIKECTEGDNLQRQHIKRILQNLEQWTLRQSWLELQLMIKQCLKDPGSGSVAEMNNLLDNIAKATIEVFQQSADLNNSSNSGMSL
FNPNSIGSADTSSTRQNGIKTFLSSSERRGVWLVAPLIARLPTSVQGRVLKAAGEELEKGQHLGSSSKKERDRQKQKSMSLLSQQPFLSL
VLTCLKGQDEQREGLLTSLQNQVNQILSNWREERYQDDIKARQMMHEALQLRLNLVGGMFDTVQRSTQWTTDWALLLLQIITSGTVDMHT
NNELFTTVLDMLGVLINGTLASDLSNASPGGSEENKRAYMNLVKKLKKELGDKRSESIDKVRQLLPLPKQTCDVITCEPMGSLIDTKGNK
IAGFDSIDKKQGLQVSTKQKVSPWDLFEGQKNPAPLSWAWFGTVRVDRRVIKYEEQHHLLLYHTHPMPKPRSYYLQPLPLPPEEEEEEPT
SPVSQEPERKSAELSDQGKTTTDEEKKTKGRKRKTKSSSRVDEYPQSNIYRVPPNYSPISSQMMHHPQSTLWGYNLVGQPQQPGFFLQNQ
SLTPGGSRLDPAGSFVPTNTKQALSNMLQRRSGAMMQPPSLHAITSQQQLIQMKLLQQQQQQRLLRQAQTRPFQQGQPGDQAALFAAQAR
PSPQLPQYPGLQQAQTMPQGYTMYGTQMPLQQTSQQQAGSVVLSPSYNSRAYPAAHSNPVLMERLRQIQQQPSGYVQQQASPYLQPLTGS
QRLNHQALQQSPLVGGGIDAVLTSAHPNLPSVPLPQDPMRPRQPQVRQQQRLLQMQQPQQPQPQQPPQPQQSSQSQSQTLGLQAMQPQQP

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Fusion Protein Functional Features


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/chr3:78987751/chr3:150911277)
- 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
.MED12L

Q86YW9

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: May be a component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneROBO1chr3:78987751chr3:150911277ENST00000464233-43168_164166.333333333333341652.0DomainNote=Ig-like C2-type 1
TgeneMED12Lchr3:78987751chr3:150911277ENST0000030923713151877_2134691.0757.0Compositional biasNote=Gln-rich
TgeneMED12Lchr3:78987751chr3:150911277ENST0000042224812141877_2134656.0722.0Compositional biasNote=Gln-rich
TgeneMED12Lchr3:78987751chr3:150911277ENST0000047452412431877_2134656.02146.0Compositional biasNote=Gln-rich

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneROBO1chr3:78987751chr3:150911277ENST00000436010-229170_257127.333333333333331613.0DomainNote=Ig-like C2-type 2
HgeneROBO1chr3:78987751chr3:150911277ENST00000436010-229262_346127.333333333333331613.0DomainNote=Ig-like C2-type 3
HgeneROBO1chr3:78987751chr3:150911277ENST00000436010-229351_446127.333333333333331613.0DomainNote=Ig-like C2-type 4
HgeneROBO1chr3:78987751chr3:150911277ENST00000436010-229455_541127.333333333333331613.0DomainNote=Ig-like C2-type 5
HgeneROBO1chr3:78987751chr3:150911277ENST00000436010-229563_657127.333333333333331613.0DomainFibronectin type-III 1
HgeneROBO1chr3:78987751chr3:150911277ENST00000436010-229676_773127.333333333333331613.0DomainFibronectin type-III 2
HgeneROBO1chr3:78987751chr3:150911277ENST00000436010-22968_164127.333333333333331613.0DomainNote=Ig-like C2-type 1
HgeneROBO1chr3:78987751chr3:150911277ENST00000436010-229778_874127.333333333333331613.0DomainFibronectin type-III 3
HgeneROBO1chr3:78987751chr3:150911277ENST00000464233-431170_257166.333333333333341652.0DomainNote=Ig-like C2-type 2
HgeneROBO1chr3:78987751chr3:150911277ENST00000464233-431262_346166.333333333333341652.0DomainNote=Ig-like C2-type 3
HgeneROBO1chr3:78987751chr3:150911277ENST00000464233-431351_446166.333333333333341652.0DomainNote=Ig-like C2-type 4
HgeneROBO1chr3:78987751chr3:150911277ENST00000464233-431455_541166.333333333333341652.0DomainNote=Ig-like C2-type 5
HgeneROBO1chr3:78987751chr3:150911277ENST00000464233-431563_657166.333333333333341652.0DomainFibronectin type-III 1
HgeneROBO1chr3:78987751chr3:150911277ENST00000464233-431676_773166.333333333333341652.0DomainFibronectin type-III 2
HgeneROBO1chr3:78987751chr3:150911277ENST00000464233-431778_874166.333333333333341652.0DomainFibronectin type-III 3
HgeneROBO1chr3:78987751chr3:150911277ENST00000467549-229170_257127.333333333333331552.0DomainNote=Ig-like C2-type 2
HgeneROBO1chr3:78987751chr3:150911277ENST00000467549-229262_346127.333333333333331552.0DomainNote=Ig-like C2-type 3
HgeneROBO1chr3:78987751chr3:150911277ENST00000467549-229351_446127.333333333333331552.0DomainNote=Ig-like C2-type 4
HgeneROBO1chr3:78987751chr3:150911277ENST00000467549-229455_541127.333333333333331552.0DomainNote=Ig-like C2-type 5
HgeneROBO1chr3:78987751chr3:150911277ENST00000467549-229563_657127.333333333333331552.0DomainFibronectin type-III 1
HgeneROBO1chr3:78987751chr3:150911277ENST00000467549-229676_773127.333333333333331552.0DomainFibronectin type-III 2
HgeneROBO1chr3:78987751chr3:150911277ENST00000467549-22968_164127.333333333333331552.0DomainNote=Ig-like C2-type 1
HgeneROBO1chr3:78987751chr3:150911277ENST00000467549-229778_874127.333333333333331552.0DomainFibronectin type-III 3
HgeneROBO1chr3:78987751chr3:150911277ENST00000495273-229170_257127.333333333333331607.0DomainNote=Ig-like C2-type 2
HgeneROBO1chr3:78987751chr3:150911277ENST00000495273-229262_346127.333333333333331607.0DomainNote=Ig-like C2-type 3
HgeneROBO1chr3:78987751chr3:150911277ENST00000495273-229351_446127.333333333333331607.0DomainNote=Ig-like C2-type 4
HgeneROBO1chr3:78987751chr3:150911277ENST00000495273-229455_541127.333333333333331607.0DomainNote=Ig-like C2-type 5
HgeneROBO1chr3:78987751chr3:150911277ENST00000495273-229563_657127.333333333333331607.0DomainFibronectin type-III 1
HgeneROBO1chr3:78987751chr3:150911277ENST00000495273-229676_773127.333333333333331607.0DomainFibronectin type-III 2
HgeneROBO1chr3:78987751chr3:150911277ENST00000495273-22968_164127.333333333333331607.0DomainNote=Ig-like C2-type 1
HgeneROBO1chr3:78987751chr3:150911277ENST00000495273-229778_874127.333333333333331607.0DomainFibronectin type-III 3
HgeneROBO1chr3:78987751chr3:150911277ENST00000436010-22926_897127.333333333333331613.0Topological domainExtracellular
HgeneROBO1chr3:78987751chr3:150911277ENST00000436010-229919_1651127.333333333333331613.0Topological domainCytoplasmic
HgeneROBO1chr3:78987751chr3:150911277ENST00000464233-43126_897166.333333333333341652.0Topological domainExtracellular
HgeneROBO1chr3:78987751chr3:150911277ENST00000464233-431919_1651166.333333333333341652.0Topological domainCytoplasmic
HgeneROBO1chr3:78987751chr3:150911277ENST00000467549-22926_897127.333333333333331552.0Topological domainExtracellular
HgeneROBO1chr3:78987751chr3:150911277ENST00000467549-229919_1651127.333333333333331552.0Topological domainCytoplasmic
HgeneROBO1chr3:78987751chr3:150911277ENST00000495273-22926_897127.333333333333331607.0Topological domainExtracellular
HgeneROBO1chr3:78987751chr3:150911277ENST00000495273-229919_1651127.333333333333331607.0Topological domainCytoplasmic
HgeneROBO1chr3:78987751chr3:150911277ENST00000436010-229898_918127.333333333333331613.0TransmembraneHelical
HgeneROBO1chr3:78987751chr3:150911277ENST00000464233-431898_918166.333333333333341652.0TransmembraneHelical
HgeneROBO1chr3:78987751chr3:150911277ENST00000467549-229898_918127.333333333333331552.0TransmembraneHelical
HgeneROBO1chr3:78987751chr3:150911277ENST00000495273-229898_918127.333333333333331607.0TransmembraneHelical


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ROBO1
MED12L


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to ROBO1-MED12L


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ROBO1-MED12L


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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