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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:MB21D2-CEP19 (FusionGDB2 ID:51951)

Fusion Gene Summary for MB21D2-CEP19

check button Fusion gene summary
Fusion gene informationFusion gene name: MB21D2-CEP19
Fusion gene ID: 51951
HgeneTgene
Gene symbol

MB21D2

CEP19

Gene ID

151963

84984

Gene nameMab-21 domain containing 2centrosomal protein 19
SynonymsC3orf59C3orf34|MOSPGF
Cytomap

3q29

3q29

Type of geneprotein-codingprotein-coding
Descriptionprotein MB21D2mab-21 domain-containing protein 2centrosomal protein of 19 kDacentrosomal protein 19kDa
Modification date2020031320200313
UniProtAcc

Q8IYB1

Q8TEP8

Ensembl transtripts involved in fusion geneENST00000392452, ENST00000399942, 
ENST00000409690, 
Fusion gene scores* DoF score4 X 2 X 5=402 X 2 X 2=8
# samples 52
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: MB21D2 [Title/Abstract] AND CEP19 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMB21D2(192635419)-CEP19(196434783), # 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

check buttonFusion gene breakpoints across MB21D2 (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 CEP19 (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
ChimerDB4LGGTCGA-DU-A7TA-01AMB21D2chr3

192635419

-CEP19chr3

196434783

-


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Fusion Gene ORF analysis for MB21D2-CEP19

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
In-frameENST00000392452ENST00000399942MB21D2chr3

192635419

-CEP19chr3

196434783

-
In-frameENST00000392452ENST00000409690MB21D2chr3

192635419

-CEP19chr3

196434783

-

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)
ENST00000392452MB21D2chr3192635419-ENST00000409690CEP19chr3196434783-2168532120893257
ENST00000392452MB21D2chr3192635419-ENST00000399942CEP19chr3196434783-1384532120893257

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
ENST00000392452ENST00000409690MB21D2chr3192635419-CEP19chr3196434783-0.0006893280.99931073
ENST00000392452ENST00000399942MB21D2chr3192635419-CEP19chr3196434783-0.0008249180.999175

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Fusion Genomic Features for MB21D2-CEP19


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.

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Fusion Protein Features for MB21D2-CEP19


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/chr3:192635419/chr3:196434783)
- 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
MB21D2

Q8IYB1

CEP19

Q8TEP8

FUNCTION: Required for mitotic centrosome maturation and bipolar spindle assembly (PubMed:25042804, PubMed:17980596, PubMed:18207742). Appears to be a major regulator of pericentriolar material (PCM) recruitment, centrosome maturation, and centriole duplication (PubMed:25042804, PubMed:17980596, PubMed:18207742). Centrosome-specific activating scaffold for AURKA and PLK1 (PubMed:25042804). {ECO:0000269|PubMed:17980596, ECO:0000269|PubMed:18207742, ECO:0000269|PubMed:25042804}.

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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Fusion Gene Sequence for MB21D2-CEP19


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.
>51951_51951_1_MB21D2-CEP19_MB21D2_chr3_192635419_ENST00000392452_CEP19_chr3_196434783_ENST00000399942_length(transcript)=1384nt_BP=532nt
AGTTGGCTCTACGACCGCCGTTGCCGCTGCCAGAGAGGGCCAGGGCAGGGCAGGGACGCGCAGCATCGGGGCGGGCGTGGGGCCGGAGAA
AAGGGTGTCGGGGCCACACACGCACCCTCGCTGCAGTCCAGCTCCTCCCGAAGCTCGCACGCCCAGAGCGCACGGAGCGGGGGACTGCCC
GCCCAGACGCCCGCCCGCCAACCCGCCCACGAGCCGGGGCCAAAGCCTGGGAGCCTGCGAGGGGAGGAGGCCCAGGGGGGCGGGGTGGGG
GGCGGGGGTGGGTGCCGCGCTGCCGCGGAGCTGCTACTCGGCGCGTTTTGCATGAAGATGGCGGCTCCCACCGCCAACAAGGCAGCCTCC
CTGGGCTGTAACAACAAGCCTGCGTTCCCGGAGCTGGATTTCAGGTCGGGAGCTCGGGTGGAGGAATTGAACAAACTCATCCAAGAATTT
ACGAAGCACGACCAGCGGGAATACGACGACCAGAGAGCGCTGGAGATTCACACAGCCAAGGATTTCATCTTTTCCATGCTGGATTGCACC
AGAGCTGCTGAACAATTAAAGAATAATCCGCGACACAAGAGTTACCTAGAACAAGTATCCCTGAGGCAGCTAGAGAAGCTATTCAGTTTT
TTACGAGGTTACTTGTCGGGGCAGAGTCTGGCAGAAACAATGGAACAAATTCAACGGGAAACAACCATTGATCCTGAGGAAGACCTGAAC
AAACTAGATGACAAGGAGCTTGCCAAAAGAAAGAGCATCATGGATGAACTTTTTGAGAAAAATCAGAAGAAGAAGGATGATCCAAATTTT
GTTTATGACATTGAGGTTGAATTTCCACAGGACGATCAACTGCAGTCCTGTGGCTGGGACACAGAGTCAGCTGATGAGTTCTGATACCAA
ACACTCAAAACATGCATTGGGCTAGCAGAATATCCATGTTTATTACCAGACTGGTTCTGGAAGAAGCTGTAAAGAATACTAAATATGTTG
GGTTATAGGGGATTGACCATGTTACTTTTCAAAACCAGGACATTTAAAGCATCTACTATGTAGGTGCATGAGGAGTATGGGAAAAACAGA
ATAAAGGAATCTGCCTTTAAGGAGCTTACAATCATGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGG
TGGATCACCTAAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTG
GTGGCGGGTGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGATTCGCTTGAACCTGGGAGGCTGAGGTTGCAGTGAGCCGAGAT

>51951_51951_1_MB21D2-CEP19_MB21D2_chr3_192635419_ENST00000392452_CEP19_chr3_196434783_ENST00000399942_length(amino acids)=257AA_BP=133
MQSSSSRSSHAQSARSGGLPAQTPARQPAHEPGPKPGSLRGEEAQGGGVGGGGGCRAAAELLLGAFCMKMAAPTANKAASLGCNNKPAFP
ELDFRSGARVEELNKLIQEFTKHDQREYDDQRALEIHTAKDFIFSMLDCTRAAEQLKNNPRHKSYLEQVSLRQLEKLFSFLRGYLSGQSL

--------------------------------------------------------------
>51951_51951_2_MB21D2-CEP19_MB21D2_chr3_192635419_ENST00000392452_CEP19_chr3_196434783_ENST00000409690_length(transcript)=2168nt_BP=532nt
AGTTGGCTCTACGACCGCCGTTGCCGCTGCCAGAGAGGGCCAGGGCAGGGCAGGGACGCGCAGCATCGGGGCGGGCGTGGGGCCGGAGAA
AAGGGTGTCGGGGCCACACACGCACCCTCGCTGCAGTCCAGCTCCTCCCGAAGCTCGCACGCCCAGAGCGCACGGAGCGGGGGACTGCCC
GCCCAGACGCCCGCCCGCCAACCCGCCCACGAGCCGGGGCCAAAGCCTGGGAGCCTGCGAGGGGAGGAGGCCCAGGGGGGCGGGGTGGGG
GGCGGGGGTGGGTGCCGCGCTGCCGCGGAGCTGCTACTCGGCGCGTTTTGCATGAAGATGGCGGCTCCCACCGCCAACAAGGCAGCCTCC
CTGGGCTGTAACAACAAGCCTGCGTTCCCGGAGCTGGATTTCAGGTCGGGAGCTCGGGTGGAGGAATTGAACAAACTCATCCAAGAATTT
ACGAAGCACGACCAGCGGGAATACGACGACCAGAGAGCGCTGGAGATTCACACAGCCAAGGATTTCATCTTTTCCATGCTGGATTGCACC
AGAGCTGCTGAACAATTAAAGAATAATCCGCGACACAAGAGTTACCTAGAACAAGTATCCCTGAGGCAGCTAGAGAAGCTATTCAGTTTT
TTACGAGGTTACTTGTCGGGGCAGAGTCTGGCAGAAACAATGGAACAAATTCAACGGGAAACAACCATTGATCCTGAGGAAGACCTGAAC
AAACTAGATGACAAGGAGCTTGCCAAAAGAAAGAGCATCATGGATGAACTTTTTGAGAAAAATCAGAAGAAGAAGGATGATCCAAATTTT
GTTTATGACATTGAGGTTGAATTTCCACAGGACGATCAACTGCAGTCCTGTGGCTGGGACACAGAGTCAGCTGATGAGTTCTGATACCAA
ACACTCAAAACATGCATTGGGCTAGCAGAATATCCATGTTTATTACCAGACTGGTTCTGGAAGAAGCTGTAAAGAATACTAAATATGTTG
GGTTATAGGGGATTGACCATGTTACTTTTCAAAACCAGGACATTTAAAGCATCTACTATGTAGGTGCATGAGGAGTATGGGAAAAACAGA
ATAAAGGAATCTGCCTTTAAGGAGCTTACAATCATGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGG
TGGATCACCTAAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTG
GTGGCGGGTGCCTGTAATCCCGGCTACTCAGGAGGCTGAGGCAGGAGATTCGCTTGAACCTGGGAGGCTGAGGTTGCAGTGAGCCGAGAT
CGCGCCATTGTACTCCAGCCTGGGCGATGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAGCTTACAATCTGACTGGAAGATGTC
AAAACCTGTGAAAAGCTAATTAGCAGTATTAAGCAACACAAACATTAGTGCCAAATGCATGATAAAGGCTAAAGAAGGCCAGAGCATATA
TTACTGTAGAGTAGAATAGTAAGGGAAGACTTTGTCCTTTAGTAAAGAGATAGGAGGTGGCCTGGCCCTTGAAATAGTAGTGTTTAGGTA
GATGCTTGTGTAGGATTCCTGATAAGAGCAACTGAAAAGAAGGAGAGGGGAAGTAGTAAAGGGACAAGAAACAATTTTTTTTTTGAGGAA
CCATAAGCAAATTATAGTTTGACAAGACAAGATTGGGGGACATATATGGTTACCAGGGAATTACCTCTTATGTGTTATATCTTTATATTA
TTTATCTCTGGAAAAGAGTACCCTGCAAAATTCCCTACAGCTGCAAGCAGATGTCACTTGATGGACAGAGGGGGAATTCTGCCCCTCCGG
TATCGGGAAATACATACTAAAGACATTGCGAAACGCTGAACCTCTTCCCATAAATAAAAGGTTTGTTTGTAAAATGGGAAATCCACCCAT
AATAAATGAACAATAGGCACTGCCAGTTTAGGCCTGTTCATGAATGGATCTGCAAGACAGCATCTTCGTTTAACAACATTATCTGTGATT
TGATACATTTATCCTTATTACAATATTGTTTAGTTGGTAGAAATTCTATGTTTTCTACAAGGAAATTGATGTTTATTAAATAAAACTGAA

>51951_51951_2_MB21D2-CEP19_MB21D2_chr3_192635419_ENST00000392452_CEP19_chr3_196434783_ENST00000409690_length(amino acids)=257AA_BP=133
MQSSSSRSSHAQSARSGGLPAQTPARQPAHEPGPKPGSLRGEEAQGGGVGGGGGCRAAAELLLGAFCMKMAAPTANKAASLGCNNKPAFP
ELDFRSGARVEELNKLIQEFTKHDQREYDDQRALEIHTAKDFIFSMLDCTRAAEQLKNNPRHKSYLEQVSLRQLEKLFSFLRGYLSGQSL

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Fusion Gene PPI Analysis for MB21D2-CEP19


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 MB21D2-CEP19


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 MB21D2-CEP19


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