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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:C11orf84-MACROD1 (FusionGDB2 ID:HG144097TG28992)

Fusion Gene Summary for C11orf84-MACROD1

check button Fusion gene summary
Fusion gene informationFusion gene name: C11orf84-MACROD1
Fusion gene ID: hg144097tg28992
HgeneTgene
Gene symbol

C11orf84

MACROD1

Gene ID

144097

28992

Gene namespindlin interactor and repressor of chromatin bindingmono-ADP ribosylhydrolase 1
SynonymsC11orf84|SPIN-DOCLRP16
Cytomap('C11orf84')('MACROD1')

11q13.1

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionspindlin interactor and repressor of chromatin-binding proteinSPIN1 docking proteinhypothetical protein BC007540uncharacterized protein C11orf84ADP-ribose glycohydrolase MACROD1MACRO domain containing 1MACRO domain-containing protein 1O-acetyl-ADP-ribose deacetylase MACROD1[Protein ADP-ribosylaspartate] hydrolase MACROD1[Protein ADP-ribosylglutamate] hydrolase[Protein ADP-ribosylglutamate]
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000294244, 
Fusion gene scores* DoF score5 X 3 X 5=757 X 7 X 6=294
# samples 58
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/294*10)=-1.877744249949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C11orf84 [Title/Abstract] AND MACROD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC11orf84(63586474)-MACROD1(63782753), # samples:2
Anticipated loss of major functional domain due to fusion event.C11orf84-MACROD1 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.
C11orf84-MACROD1 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.
C11orf84-MACROD1 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.
C11orf84-MACROD1 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.
* 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
HgeneC11orf84

GO:0045892

negative regulation of transcription, DNA-templated

29061846

TgeneMACROD1

GO:0042278

purine nucleoside metabolic process

21257746

TgeneMACROD1

GO:0051725

protein de-ADP-ribosylation

23474712


check buttonFusion gene breakpoints across C11orf84 (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 MACROD1 (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
* 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
ChimerDB4GBMTCGA-28-1753-01AC11orf84chr11

63586474

+MACROD1chr11

63782753

-


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Fusion Gene ORF analysis for C11orf84-MACROD1

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-intronENST00000294244ENST00000538595C11orf84chr11

63586474

+MACROD1chr11

63782753

-
In-frameENST00000294244ENST00000255681C11orf84chr11

63586474

+MACROD1chr11

63782753

-

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)
ENST00000294244C11orf84chr1163586474+ENST00000255681MACROD1chr1163782753-18541233711693540

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
ENST00000294244ENST00000255681C11orf84chr1163586474+MACROD1chr1163782753-0.0380580870.96194196

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Fusion Genomic Features for C11orf84-MACROD1


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

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Fusion Protein Features for C11orf84-MACROD1


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/chr11:63586474/chr11:63782753)
- 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
HgeneC11orf84chr11:63586474chr11:63782753ENST00000294244+56147_252311382.0Compositional biasNote=Pro-rich
TgeneMACROD1chr11:63586474chr11:63782753ENST00000255681211172_174172225.33333333333334RegionSubstrate binding
TgeneMACROD1chr11:63586474chr11:63782753ENST00000255681211179_184172225.33333333333334RegionSubstrate binding
TgeneMACROD1chr11:63586474chr11:63782753ENST00000255681211267_273172225.33333333333334RegionSubstrate binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMACROD1chr11:63586474chr11:63782753ENST00000255681211141_322172225.33333333333334DomainMacro
TgeneMACROD1chr11:63586474chr11:63782753ENST00000255681211159_161172225.33333333333334RegionSubstrate binding


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Fusion Gene Sequence for C11orf84-MACROD1


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.
>10780_10780_1_C11orf84-MACROD1_C11orf84_chr11_63586474_ENST00000294244_MACROD1_chr11_63782753_ENST00000255681_length(transcript)=1854nt_BP=1233nt
GGCTGGCCGGCCGGGCGGGCGCCGACAATGAGCCTCCATAAAAGGGAGCGGCGGGGGGCAGGGGCCCCGGATTGAGCCCTCCCCGCCCGG
GCTCCCGACGCGCCGAGGTCTCGGGGAGGCCCGGACGCGCCGGTCGCAGGCCCGGCCGGCGAGCGGCGGGCGGGCGGCGGGGAGGGGGCT
GCGCGGGGCGGGCGGCGGGCCCGGCGCTATTCCGGCCAGGAGGCGGGAGGCGGTTGCCGGCTGCGCGCCGAAGCCTGCGCGCCAGTCCTC
CGGCCACTGCTATCGCCCACGGCCGCACCATGGCCCTAAAGGCCGAGGGCGCCGCACTCGACTGCTTCGAGGTGACGCTGAAATGCGAGG
AAGGGGAGGACGAGGAGGAGGCCATGGTGGTGGCCGTAATTCCGCGGCCCGAGCCGATGCTCAGAGTGACCCAACAGGAGAAGACCCCAC
CGCCTAGACCCAGCCCGCTAGAGGCAGGCAGTGATGGCTGTGAGGAGCCGAAGCAGCAGGTGTCTTGGGAGCAGGAGTTCCTGGTGGGCA
GCAGCCCAGGAGGCAGCGGGCGGGCACTGTGCATGGTGTGTGGCGCTGAGATCCGGGCACCCTCGGCCGACACAGCTCGCTCGCACATCT
TGGAGCAGCACCCTCACACCTTGGACCTGAGCCCTTCTGAGAAGAGCAATATCCTGGAGGCCTGGAGTGAAGGGGTGGCCCTCTTGCAAG
ACGTGAGAGCTGAGCAGCCGTCCCCACCCAACTCAGACTCGGGCCAGGATGCCCACCCAGACCCAGACGCCAACCCAGACGCTGCCAGAA
TGCCAGCCGAAATCGTCGTTCTCCTTGACTCTGAGGATAACCCATCCCTCCCTAAAAGGAGCCGGCCCAGGGGACTCCGCCCCCTCGAGC
TTCCTGCTGTCCCTGCCACAGAGCCAGGAAATAAGAAGCCCCGTGGTCAGAGATGGAAGGAACCCCCAGGGGAAGAGCCAGTCAGAAAGA
AAAGAGGCAGACCTATGACCAAAAACCTGGACCCTGACCCAGAGCCCCCATCGCCAGACTCGCCCACGGAGACTTTCGCAGCACCAGCCG
AGGTCCGACACTTCACTGACGGCAGCTTCCCCGCCGGCTTCGTCTTGCAGCTCTTCTCCCACACCCAGCTCAGGGGCCCAGACAGCAAGG
ACTCACCCAAAGACAGGGAAGTGGCAGAAGGAGGCCTTCCCCGGGCGGAGAGCCCCTCTCCAGCCAACAGCTCCCTGCTCGGAGGCGGTG
GCGTGGACGGCTGCATTCATCGGGCCGCCGGCCCCCTGCTTACCGACGAGTGCCGGACCCTGCAGAGCTGTAAGACTGGCAAGGCCAAGA
TCACCGGCGGCTATCGGCTCCCGGCCAAGTACGTCATCCACACAGTGGGGCCCATCGCCTACGGGGAGCCCAGCGCCAGTCAGGCTGCCG
AGCTCCGCAGCTGCTACCTGAGCAGTCTGGACCTGCTGCTGGAGCACCGGCTCCGCTCGGTGGCGTTCCCCTGCATCTCCACCGGCGTGT
TTGGCTACCCCTGTGAGGCGGCCGCCGAGATCGTGCTGGCCACGCTGCGAGAGTGGCTGGAGCAGCACAAGGACAAGGTGGACCGGCTGA
TCATCTGCGTGTTCCTCGAGAAGGACGAGGACATCTACCGGAGCCGGCTCCCCCACTACTTCCCCGTGGCCTGAGGCTCCCGCAGCCCAC
CCTGACCGGGACTGACCCGCCTTCGGGACCCCGCTCCCAGCTCTGAGAGGTCGCCAAAGCCTGCAGCCTGGCCTGGGCCTGGCCACCCCT

>10780_10780_1_C11orf84-MACROD1_C11orf84_chr11_63586474_ENST00000294244_MACROD1_chr11_63782753_ENST00000255681_length(amino acids)=540AA_BP=4
MSPPRPGSRRAEVSGRPGRAGRRPGRRAAGGRRGGGCAGRAAGPALFRPGGGRRLPAARRSLRASPPATAIAHGRTMALKAEGAALDCFE
VTLKCEEGEDEEEAMVVAVIPRPEPMLRVTQQEKTPPPRPSPLEAGSDGCEEPKQQVSWEQEFLVGSSPGGSGRALCMVCGAEIRAPSAD
TARSHILEQHPHTLDLSPSEKSNILEAWSEGVALLQDVRAEQPSPPNSDSGQDAHPDPDANPDAARMPAEIVVLLDSEDNPSLPKRSRPR
GLRPLELPAVPATEPGNKKPRGQRWKEPPGEEPVRKKRGRPMTKNLDPDPEPPSPDSPTETFAAPAEVRHFTDGSFPAGFVLQLFSHTQL
RGPDSKDSPKDREVAEGGLPRAESPSPANSSLLGGGGVDGCIHRAAGPLLTDECRTLQSCKTGKAKITGGYRLPAKYVIHTVGPIAYGEP
SASQAAELRSCYLSSLDLLLEHRLRSVAFPCISTGVFGYPCEAAAEIVLATLREWLEQHKDKVDRLIICVFLEKDEDIYRSRLPHYFPVA

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

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Fusion Gene PPI Analysis for C11orf84-MACROD1


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 C11orf84-MACROD1


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 C11orf84-MACROD1


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