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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:MNAT1-NUMB (FusionGDB2 ID:54460)

Fusion Gene Summary for MNAT1-NUMB

check button Fusion gene summary
Fusion gene informationFusion gene name: MNAT1-NUMB
Fusion gene ID: 54460
HgeneTgene
Gene symbol

MNAT1

NUMB

Gene ID

4331

8650

Gene nameMNAT1 component of CDK activating kinaseNUMB endocytic adaptor protein
SynonymsCAP35|MAT1|RNF66|TFB3C14orf41|S171|c14_5527
Cytomap

14q23.1

14q24.2-q24.3

Type of geneprotein-codingprotein-coding
DescriptionCDK-activating kinase assembly factor MAT1CDK7/cyclin-H assembly factorMNAT CDK-activating kinase assembly factor 1MNAT1, CDK activating kinase assembly factorRING finger protein 66RING finger protein MAT1cyclin G1 interacting proteinmenage a troisprotein numb homologh-Numbnumb homolog
Modification date2020031320200313
UniProtAcc

P51948

NUMBL

Ensembl transtripts involved in fusion geneENST00000555545, ENST00000261245, 
ENST00000539616, 		ENST00000355058, 
ENST00000356296, ENST00000359560, 
ENST00000535282, ENST00000554546, 
ENST00000555238, ENST00000555394, 
ENST00000556600, ENST00000557597, 
ENST00000454166, ENST00000544991, 
ENST00000554521, ENST00000555738, 
ENST00000556772, ENST00000559312, 
ENST00000560335, 
Fusion gene scores* DoF score10 X 6 X 7=42010 X 9 X 5=450
# samples 1010
** MAII scorelog2(10/420*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/450*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MNAT1 [Title/Abstract] AND NUMB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMNAT1(61201669)-NUMB(73876776), # samples:1
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
HgeneMNAT1

GO:0006357

regulation of transcription by RNA polymerase II

10801852

HgeneMNAT1

GO:0006366

transcription by RNA polymerase II

9852112

HgeneMNAT1

GO:0045944

positive regulation of transcription by RNA polymerase II

8692841

HgeneMNAT1

GO:1905775

negative regulation of DNA helicase activity

11445587


check buttonFusion gene breakpoints across MNAT1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

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
ChimerDB4Non-CancerTCGA-IP-7968-11AMNAT1chr14

61201669

+NUMBchr14

73876776

-


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Fusion Gene ORF analysis for MNAT1-NUMB

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
3UTR-5UTRENST00000555545ENST00000355058MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-5UTRENST00000555545ENST00000356296MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-5UTRENST00000555545ENST00000359560MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-5UTRENST00000555545ENST00000535282MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-5UTRENST00000555545ENST00000554546MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-5UTRENST00000555545ENST00000555238MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-5UTRENST00000555545ENST00000555394MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-5UTRENST00000555545ENST00000556600MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-5UTRENST00000555545ENST00000557597MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-intronENST00000555545ENST00000454166MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-intronENST00000555545ENST00000544991MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-intronENST00000555545ENST00000554521MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-intronENST00000555545ENST00000555738MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-intronENST00000555545ENST00000556772MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-intronENST00000555545ENST00000559312MNAT1chr14

61201669

+NUMBchr14

73876776

-
3UTR-intronENST00000555545ENST00000560335MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000261245ENST00000355058MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000261245ENST00000356296MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000261245ENST00000359560MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000261245ENST00000535282MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000261245ENST00000554546MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000261245ENST00000555238MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000261245ENST00000555394MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000261245ENST00000556600MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000261245ENST00000557597MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000539616ENST00000355058MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000539616ENST00000356296MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000539616ENST00000359560MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000539616ENST00000535282MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000539616ENST00000554546MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000539616ENST00000555238MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000539616ENST00000555394MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000539616ENST00000556600MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-5UTRENST00000539616ENST00000557597MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000261245ENST00000454166MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000261245ENST00000544991MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000261245ENST00000554521MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000261245ENST00000555738MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000261245ENST00000556772MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000261245ENST00000559312MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000261245ENST00000560335MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000539616ENST00000454166MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000539616ENST00000544991MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000539616ENST00000554521MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000539616ENST00000555738MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000539616ENST00000556772MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000539616ENST00000559312MNAT1chr14

61201669

+NUMBchr14

73876776

-
5CDS-intronENST00000539616ENST00000560335MNAT1chr14

61201669

+NUMBchr14

73876776

-

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)

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

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Fusion Genomic Features for MNAT1-NUMB


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.

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 MNAT1-NUMB


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/:61201669/:73876776)
- 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
MNAT1

P51948

NUMB

NUMBL

FUNCTION: Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. {ECO:0000269|PubMed:10024882}.609

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 MNAT1-NUMB


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.

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Fusion Gene PPI Analysis for MNAT1-NUMB


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 MNAT1-NUMB


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 MNAT1-NUMB


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