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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-PCNXL4 (FusionGDB2 ID:54462)

Fusion Gene Summary for MNAT1-PCNXL4

check button Fusion gene summary
Fusion gene informationFusion gene name: MNAT1-PCNXL4
Fusion gene ID: 54462
HgeneTgene
Gene symbol

MNAT1

PCNXL4

Gene ID

4331

64430

Gene nameMNAT1 component of CDK activating kinasepecanex 4
SynonymsCAP35|MAT1|RNF66|TFB3C14orf135|FBP2|PCNXL4
Cytomap

14q23.1

14q23.1

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 troispecanex-like protein 4HCV F protein-binding protein 2HCV F-interacting proteinhepatitis C virus F protein-binding protein 2pecanex homolog 4pecanex homolog protein 4pecanex-like 4pecanex-like protein C14orf135
Modification date2020031320200313
UniProtAcc

P51948

.
Ensembl transtripts involved in fusion geneENST00000261245, ENST00000539616, 
ENST00000555545, 
ENST00000535349, 
ENST00000391611, ENST00000404681, 
ENST00000406854, ENST00000406949, 
ENST00000553898, ENST00000317623, 
Fusion gene scores* DoF score10 X 6 X 7=4203 X 3 X 2=18
# samples 103
** MAII scorelog2(10/420*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MNAT1 [Title/Abstract] AND PCNXL4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMNAT1(61264878)-PCNXL4(60600688), # 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.
all structure

check buttonFusion gene breakpoints across PCNXL4 (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
ChimerDB4BRCATCGA-OL-A5S0-01AMNAT1chr14

61264878

+PCNXL4chr14

60600688

+


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Fusion Gene ORF analysis for MNAT1-PCNXL4

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-3UTRENST00000261245ENST00000535349MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
5CDS-3UTRENST00000539616ENST00000535349MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
5CDS-intronENST00000261245ENST00000391611MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
5CDS-intronENST00000261245ENST00000404681MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
5CDS-intronENST00000261245ENST00000406854MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
5CDS-intronENST00000261245ENST00000406949MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
5CDS-intronENST00000261245ENST00000553898MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
5CDS-intronENST00000539616ENST00000391611MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
5CDS-intronENST00000539616ENST00000404681MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
5CDS-intronENST00000539616ENST00000406854MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
5CDS-intronENST00000539616ENST00000406949MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
5CDS-intronENST00000539616ENST00000553898MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
In-frameENST00000261245ENST00000317623MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
In-frameENST00000539616ENST00000317623MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
intron-3CDSENST00000555545ENST00000317623MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
intron-3UTRENST00000555545ENST00000535349MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
intron-intronENST00000555545ENST00000391611MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
intron-intronENST00000555545ENST00000404681MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
intron-intronENST00000555545ENST00000406854MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
intron-intronENST00000555545ENST00000406949MNAT1chr14

61264878

+PCNXL4chr14

60600688

+
intron-intronENST00000555545ENST00000553898MNAT1chr14

61264878

+PCNXL4chr14

60600688

+

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)
ENST00000261245MNAT1chr1461264878+ENST00000317623PCNXL4chr1460600688+12624175442145
ENST00000539616MNAT1chr1461264878+ENST00000317623PCNXL4chr1460600688+12484039428139

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
ENST00000261245ENST00000317623MNAT1chr1461264878+PCNXL4chr1460600688+0.0307123330.96928763
ENST00000539616ENST00000317623MNAT1chr1461264878+PCNXL4chr1460600688+0.0308211670.9691788

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Fusion Genomic Features for MNAT1-PCNXL4


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.
genomic feature of top 1%

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Fusion Protein Features for MNAT1-PCNXL4


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/chr14:61264878/chr14:60600688)
- 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

.
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}.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
HgeneMNAT1chr14:61264878chr14:60600688ENST00000261245+386_50105310.0Zinc fingerRING-type
HgeneMNAT1chr14:61264878chr14:60600688ENST00000539616+376_50105268.0Zinc fingerRING-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMNAT1chr14:61264878chr14:60600688ENST00000261245+38142_161105310.0DomainUIM
HgeneMNAT1chr14:61264878chr14:60600688ENST00000539616+37142_161105268.0DomainUIM
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810140_16010891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810173_19310891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810208_22810891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810244_26410891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810307_32710891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810357_37710891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810388_40510891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810448_46810891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST0000040468181045_6510891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810494_51410891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810534_55210891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810565_58510891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810607_62910891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000404681810634_65410891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST0000040468181073_9310891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911140_16010891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911173_19310891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911208_22810891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911244_26410891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911307_32710891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911357_37710891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911388_40510891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911448_46810891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST0000040685491145_6510891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911494_51410891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911534_55210891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911565_58510891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911607_62910891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST00000406854911634_65410891173.0TransmembraneHelical
TgenePCNXL4chr14:61264878chr14:60600688ENST0000040685491173_9310891173.0TransmembraneHelical


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Fusion Gene Sequence for MNAT1-PCNXL4


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.
>54462_54462_1_MNAT1-PCNXL4_MNAT1_chr14_61264878_ENST00000261245_PCNXL4_chr14_60600688_ENST00000317623_length(transcript)=1262nt_BP=417nt
AGCGCCTGTTGGTAGGAACCTGCTTGGTCGCGTCTGAGGGGGCTTGTAGGTGGCTCTGGCTGAAACAGGCGCCTGCGAGAGTCTGTAGGA
GGGAAACCGCCATGGACGATCAGGGTTGCCCTCGGTGTAAGACCACCAAATATCGGAACCCCTCCTTGAAGCTGATGGTGAATGTGTGCG
GACACACTCTCTGTGAAAGTTGTGTAGATTTACTGTTTGTGAGAGGAGCTGGAAACTGCCCTGAGTGTGGTACTCCACTCAGAAAGAGCA
ACTTCAGGGTACAACTCTTTGAAGATCCCACTGTTGACAAGGAGGTTGAGATCAGGAAAAAAGTGCTAAAGATATACAATAAAAGGGAAG
AAGATTTTCCTAGTCTAAGAGAATACAATGATTTCTTGGAAGAAGTGGAAGAAATTGGGAATTTACACTGGGAGAGTGCTTAGCCTTCAA
GAATTATTGATCCAAGTGGGAAAGTTAAATCCTGAAGCTGTTAGAGGTCAGTGGGCCAATCTTTCATGGGAATTACTTTATGCCACAAAC
GATGATGAAGAACGTTATAGTATACAAGCTCATCCACTACTTTTAAGAAATCTTACGGTACAAGCAGCAGAACCTCCCCTGGGATATCCG
ATTTATTCTTCAAAACCTCTCCACATACATTTGTATTAGAGCTCATTTTGACTGTAATGTCATCAAATGCAATGTTTTTATTTTTTCATC
CTAAAAAAGTAACTGTGATTCTTGTAACTTGAGGACTTCTCCACACCCCCATTCAGATGCCTGAGAACAGCTAAGCTCCGTAAAGTTGGT
TCTCTTAGCCATCTTAATGGTTCTAAAAAACAGCAAAAACATCTTTATGTCTAAGATAAAAGAACTATTTGGCCAATATTTGTGCCCTCT
GGACTTTAGTAGGCTTTGGTAAATGTGAGAAAACTTTTGTAGAATTATCATATAATGAATTTTGTAATGCTTTCTTAAATGTGTTATAGG
TGAATTGCCATACAAAGTTAACAGCTATGTAATTTTTACATACTTAAGAGATAAACATATCAGTGTTCTAAGTAGTGATAATGGATCCTG
TTGAAGGTTAACATAATGTGTATATATTTGTTTGAAATATAATTTATAGTATTTTCAAATGTGCTGATTTATTTTGACATCTAATATCTG
AATGTTTTTGTATCAAGTAGTTTGTTTTCATAGACTTCAATTCATAAACTTTAAAAAACTTTTAATAAAATATTTTCCTTCCTTTTCAAA

>54462_54462_1_MNAT1-PCNXL4_MNAT1_chr14_61264878_ENST00000261245_PCNXL4_chr14_60600688_ENST00000317623_length(amino acids)=145AA_BP=
MLVGTCLVASEGACRWLWLKQAPARVCRRETAMDDQGCPRCKTTKYRNPSLKLMVNVCGHTLCESCVDLLFVRGAGNCPECGTPLRKSNF

--------------------------------------------------------------
>54462_54462_2_MNAT1-PCNXL4_MNAT1_chr14_61264878_ENST00000539616_PCNXL4_chr14_60600688_ENST00000317623_length(transcript)=1248nt_BP=403nt
GGAACCTGCTTGGTCGCGTCTGAGGGGGCTTGTAGGTGGCTCTGGCTGAAACAGGCGCCTGCGAGAGTCTGTAGGAGGGAAACCGCCATG
GACGATCAGGGTTGCCCTCGGTGTAAGACCACCAAATATCGGAACCCCTCCTTGAAGCTGATGGTGAATGTGTGCGGACACACTCTCTGT
GAAAGTTGTGTAGATTTACTGTTTGTGAGAGGAGCTGGAAACTGCCCTGAGTGTGGTACTCCACTCAGAAAGAGCAACTTCAGGGTACAA
CTCTTTGAAGATCCCACTGTTGACAAGGAGGTTGAGATCAGGAAAAAAGTGCTAAAGATATACAATAAAAGGGAAGAAGATTTTCCTAGT
CTAAGAGAATACAATGATTTCTTGGAAGAAGTGGAAGAAATTGGGAATTTACACTGGGAGAGTGCTTAGCCTTCAAGAATTATTGATCCA
AGTGGGAAAGTTAAATCCTGAAGCTGTTAGAGGTCAGTGGGCCAATCTTTCATGGGAATTACTTTATGCCACAAACGATGATGAAGAACG
TTATAGTATACAAGCTCATCCACTACTTTTAAGAAATCTTACGGTACAAGCAGCAGAACCTCCCCTGGGATATCCGATTTATTCTTCAAA
ACCTCTCCACATACATTTGTATTAGAGCTCATTTTGACTGTAATGTCATCAAATGCAATGTTTTTATTTTTTCATCCTAAAAAAGTAACT
GTGATTCTTGTAACTTGAGGACTTCTCCACACCCCCATTCAGATGCCTGAGAACAGCTAAGCTCCGTAAAGTTGGTTCTCTTAGCCATCT
TAATGGTTCTAAAAAACAGCAAAAACATCTTTATGTCTAAGATAAAAGAACTATTTGGCCAATATTTGTGCCCTCTGGACTTTAGTAGGC
TTTGGTAAATGTGAGAAAACTTTTGTAGAATTATCATATAATGAATTTTGTAATGCTTTCTTAAATGTGTTATAGGTGAATTGCCATACA
AAGTTAACAGCTATGTAATTTTTACATACTTAAGAGATAAACATATCAGTGTTCTAAGTAGTGATAATGGATCCTGTTGAAGGTTAACAT
AATGTGTATATATTTGTTTGAAATATAATTTATAGTATTTTCAAATGTGCTGATTTATTTTGACATCTAATATCTGAATGTTTTTGTATC

>54462_54462_2_MNAT1-PCNXL4_MNAT1_chr14_61264878_ENST00000539616_PCNXL4_chr14_60600688_ENST00000317623_length(amino acids)=139AA_BP=
MVASEGACRWLWLKQAPARVCRRETAMDDQGCPRCKTTKYRNPSLKLMVNVCGHTLCESCVDLLFVRGAGNCPECGTPLRKSNFRVQLFE

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

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Fusion Gene PPI Analysis for MNAT1-PCNXL4


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-PCNXL4


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-PCNXL4


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