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Center for Computational Systems Medicine level2
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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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:MCCC1-FXR1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MCCC1-FXR1
FusionPDB ID: 52136
FusionGDB2.0 ID: 52136
HgeneTgene
Gene symbol

MCCC1

FXR1

Gene ID

56922

8087

Gene namemethylcrotonoyl-CoA carboxylase 1FMR1 autosomal homolog 1
SynonymsMCC-B|MCCAFXR1P
Cytomap

3q27.1

3q26.33

Type of geneprotein-codingprotein-coding
Descriptionmethylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial3-methylcrotonyl-CoA carboxylase 13-methylcrotonyl-CoA carboxylase biotin-containing subunit3-methylcrotonyl-CoA:carbon dioxide ligase subunit alphaMCCase subunit alphamethylcrotonoyl-CoA cafragile X mental retardation syndrome-related protein 1fragile X mental retardation, autosomal homolog 1
Modification date2020031320200320
UniProtAcc

Q96RQ3

P51114

Ensembl transtripts involved in fusion geneENST idsENST00000265594, ENST00000492597, 
ENST00000539926, ENST00000489909, 
ENST00000445140, ENST00000468861, 
ENST00000480918, ENST00000491062, 
ENST00000491674, ENST00000305586, 
ENST00000357559, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score10 X 12 X 6=7209 X 11 X 4=396
# samples 1411
** MAII scorelog2(14/720*10)=-2.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/396*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: MCCC1 [Title/Abstract] AND FXR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MCCC1(182788787)-FXR1(180679256), # samples:3
FXR1(180630524)-MCCC1(182790275), # samples:4
Anticipated loss of major functional domain due to fusion event.FXR1-MCCC1 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.
FXR1-MCCC1 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.
MCCC1-FXR1 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.
MCCC1-FXR1 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.
MCCC1-FXR1 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.
MCCC1-FXR1 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.
MCCC1-FXR1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
MCCC1-FXR1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MCCC1-FXR1 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
TgeneFXR1

GO:2000637

positive regulation of gene silencing by miRNA

17057366


check buttonFusion gene breakpoints across MCCC1 (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 FXR1 (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-56-7223-01AMCCC1chr3

182788787

-FXR1chr3

180679256

+
ChimerDB4LUSCTCGA-56-7223MCCC1chr3

182788786

-FXR1chr3

180679255

+
ChimerDB4LUSCTCGA-56-7223MCCC1chr3

182788787

-FXR1chr3

180679256

+


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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)
ENST00000539926MCCC1chr3182788787-ENST00000357559FXR1chr3180679256+79436066091481290
ENST00000539926MCCC1chr3182788787-ENST00000305586FXR1chr3180679256+23456066091481290
ENST00000539926MCCC1chr3182788786-ENST00000357559FXR1chr3180679255+79436066091481290
ENST00000539926MCCC1chr3182788786-ENST00000305586FXR1chr3180679255+23456066091481290

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
ENST00000539926ENST00000357559MCCC1chr3182788787-FXR1chr3180679256+0.0002629130.9997371
ENST00000539926ENST00000305586MCCC1chr3182788787-FXR1chr3180679256+0.0007306190.9992694
ENST00000539926ENST00000357559MCCC1chr3182788786-FXR1chr3180679255+0.0002629130.9997371
ENST00000539926ENST00000305586MCCC1chr3182788786-FXR1chr3180679255+0.0007306190.9992694

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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

>52136_52136_1_MCCC1-FXR1_MCCC1_chr3_182788786_ENST00000539926_FXR1_chr3_180679255_ENST00000305586_length(amino acids)=290AA_BP=0
MVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSD
WSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRT
DEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEE

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

>52136_52136_2_MCCC1-FXR1_MCCC1_chr3_182788786_ENST00000539926_FXR1_chr3_180679255_ENST00000357559_length(amino acids)=290AA_BP=0
MVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSD
WSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRT
DEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEE

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

>52136_52136_3_MCCC1-FXR1_MCCC1_chr3_182788787_ENST00000539926_FXR1_chr3_180679256_ENST00000305586_length(amino acids)=290AA_BP=0
MVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSD
WSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRT
DEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEE

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

>52136_52136_4_MCCC1-FXR1_MCCC1_chr3_182788787_ENST00000539926_FXR1_chr3_180679256_ENST00000357559_length(amino acids)=290AA_BP=0
MVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSD
WSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRT
DEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEE

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

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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/chr3:182788787/chr3:180679256)
- 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
MCCC1

Q96RQ3

FXR1

P51114

FUNCTION: Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. {ECO:0000269|PubMed:17360195}.FUNCTION: RNA-binding protein required for embryonic and postnatal development of muscle tissue (PubMed:30770808). May regulate intracellular transport and local translation of certain mRNAs (By similarity). {ECO:0000250|UniProtKB:Q61584, ECO:0000269|PubMed:30770808}.

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
TgeneFXR1chr3:182788786chr3:180679255ENST000003055861018502_510245.0537.0Compositional biasNote=Poly-Arg
TgeneFXR1chr3:182788786chr3:180679255ENST00000357559917502_510330.0622.0Compositional biasNote=Poly-Arg
TgeneFXR1chr3:182788786chr3:180679255ENST00000445140916502_510330.0540.0Compositional biasNote=Poly-Arg
TgeneFXR1chr3:182788787chr3:180679256ENST000003055861018502_510245.0537.0Compositional biasNote=Poly-Arg
TgeneFXR1chr3:182788787chr3:180679256ENST00000357559917502_510330.0622.0Compositional biasNote=Poly-Arg
TgeneFXR1chr3:182788787chr3:180679256ENST00000445140916502_510330.0540.0Compositional biasNote=Poly-Arg
TgeneFXR1chr3:182788786chr3:180679255ENST000003055861018285_314245.0537.0DomainKH 2
TgeneFXR1chr3:182788787chr3:180679256ENST000003055861018285_314245.0537.0DomainKH 2
TgeneFXR1chr3:182788786chr3:180679255ENST000003055861018442_457245.0537.0RegionNote=RNA-binding RGG-box
TgeneFXR1chr3:182788786chr3:180679255ENST00000357559917442_457330.0622.0RegionNote=RNA-binding RGG-box
TgeneFXR1chr3:182788786chr3:180679255ENST00000445140916442_457330.0540.0RegionNote=RNA-binding RGG-box
TgeneFXR1chr3:182788787chr3:180679256ENST000003055861018442_457245.0537.0RegionNote=RNA-binding RGG-box
TgeneFXR1chr3:182788787chr3:180679256ENST00000357559917442_457330.0622.0RegionNote=RNA-binding RGG-box
TgeneFXR1chr3:182788787chr3:180679256ENST00000445140916442_457330.0540.0RegionNote=RNA-binding RGG-box

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMCCC1chr3:182788786chr3:180679255ENST00000265594-719167_364253.66666666666666726.0DomainATP-grasp
HgeneMCCC1chr3:182788786chr3:180679255ENST00000265594-71948_494253.66666666666666726.0DomainNote=Biotin carboxylation
HgeneMCCC1chr3:182788786chr3:180679255ENST00000265594-719643_715253.66666666666666726.0DomainBiotinyl-binding
HgeneMCCC1chr3:182788787chr3:180679256ENST00000265594-719167_364253.66666666666666726.0DomainATP-grasp
HgeneMCCC1chr3:182788787chr3:180679256ENST00000265594-71948_494253.66666666666666726.0DomainNote=Biotin carboxylation
HgeneMCCC1chr3:182788787chr3:180679256ENST00000265594-719643_715253.66666666666666726.0DomainBiotinyl-binding
TgeneFXR1chr3:182788786chr3:180679255ENST00000305586101850_53245.0537.0Compositional biasNote=Poly-Pro
TgeneFXR1chr3:182788786chr3:180679255ENST0000035755991750_53330.0622.0Compositional biasNote=Poly-Pro
TgeneFXR1chr3:182788786chr3:180679255ENST0000044514091650_53330.0540.0Compositional biasNote=Poly-Pro
TgeneFXR1chr3:182788787chr3:180679256ENST00000305586101850_53245.0537.0Compositional biasNote=Poly-Pro
TgeneFXR1chr3:182788787chr3:180679256ENST0000035755991750_53330.0622.0Compositional biasNote=Poly-Pro
TgeneFXR1chr3:182788787chr3:180679256ENST0000044514091650_53330.0540.0Compositional biasNote=Poly-Pro
TgeneFXR1chr3:182788786chr3:180679255ENST000003055861018222_251245.0537.0DomainKH 1
TgeneFXR1chr3:182788786chr3:180679255ENST0000030558610184_50245.0537.0DomainAgenet-like 1
TgeneFXR1chr3:182788786chr3:180679255ENST00000305586101863_115245.0537.0DomainAgenet-like 2
TgeneFXR1chr3:182788786chr3:180679255ENST00000357559917222_251330.0622.0DomainKH 1
TgeneFXR1chr3:182788786chr3:180679255ENST00000357559917285_314330.0622.0DomainKH 2
TgeneFXR1chr3:182788786chr3:180679255ENST000003575599174_50330.0622.0DomainAgenet-like 1
TgeneFXR1chr3:182788786chr3:180679255ENST0000035755991763_115330.0622.0DomainAgenet-like 2
TgeneFXR1chr3:182788786chr3:180679255ENST00000445140916222_251330.0540.0DomainKH 1
TgeneFXR1chr3:182788786chr3:180679255ENST00000445140916285_314330.0540.0DomainKH 2
TgeneFXR1chr3:182788786chr3:180679255ENST000004451409164_50330.0540.0DomainAgenet-like 1
TgeneFXR1chr3:182788786chr3:180679255ENST0000044514091663_115330.0540.0DomainAgenet-like 2
TgeneFXR1chr3:182788787chr3:180679256ENST000003055861018222_251245.0537.0DomainKH 1
TgeneFXR1chr3:182788787chr3:180679256ENST0000030558610184_50245.0537.0DomainAgenet-like 1
TgeneFXR1chr3:182788787chr3:180679256ENST00000305586101863_115245.0537.0DomainAgenet-like 2
TgeneFXR1chr3:182788787chr3:180679256ENST00000357559917222_251330.0622.0DomainKH 1
TgeneFXR1chr3:182788787chr3:180679256ENST00000357559917285_314330.0622.0DomainKH 2
TgeneFXR1chr3:182788787chr3:180679256ENST000003575599174_50330.0622.0DomainAgenet-like 1
TgeneFXR1chr3:182788787chr3:180679256ENST0000035755991763_115330.0622.0DomainAgenet-like 2
TgeneFXR1chr3:182788787chr3:180679256ENST00000445140916222_251330.0540.0DomainKH 1
TgeneFXR1chr3:182788787chr3:180679256ENST00000445140916285_314330.0540.0DomainKH 2
TgeneFXR1chr3:182788787chr3:180679256ENST000004451409164_50330.0540.0DomainAgenet-like 1
TgeneFXR1chr3:182788787chr3:180679256ENST0000044514091663_115330.0540.0DomainAgenet-like 2


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>510_MCCC1_182788787_FXR1_180679256_ranked_0.pdbMCCC1182788786182788787ENST00000305586FXR1chr3180679256+
MVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSD
WSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRT
DEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEE
290


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
MCCC1_pLDDT.png
all structure
all structure
FXR1_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
MCCC1
FXR1


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 MCCC1-FXR1


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 MCCC1-FXR1


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