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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 22955

FusionGeneSummary for MYCBP2_NAT8L

check button Fusion gene summary
Fusion gene informationFusion gene name: MYCBP2_NAT8L
Fusion gene ID: 22955
HgeneTgene
Gene symbol

MYCBP2

NAT8L

Gene ID

23077

339983

Gene nameMYC binding protein 2, E3 ubiquitin protein ligaseN-acetyltransferase 8 like
SynonymsMyc-bp2|PAM|PhrCML3|NACED|NAT8-LIKE
Cytomap

13q22.3

4p16.3

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase MYCBP2HighwireRING-type E3 ubiquitin transferase MYCBP2myc-binding protein 2pam/highwire/rpm-1 proteinprotein associated with MycN-acetylaspartate synthetaseN-acetyltransferase 8-like (GCN5-related, putative)NAA synthetaseShaticamello-like protein 3
Modification date2018052320180519
UniProtAcc

O75592

Q8N9F0

Ensembl transtripts involved in fusion geneENST00000544440, ENST00000407578, 
ENST00000357337, ENST00000360084, 
ENST00000482517, 
ENST00000423729, 
ENST00000331662, 
Fusion gene scores* DoF score9 X 9 X 7=5671 X 1 X 1=1
# samples 91
** MAII scorelog2(9/567*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: MYCBP2 [Title/Abstract] AND NAT8L [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BQ948308MYCBP2chr13

77858502

-NAT8Lchr4

2070754

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3UTRENST00000544440ENST00000423729MYCBP2chr13

77858502

-NAT8Lchr4

2070754

+
intron-3UTRENST00000544440ENST00000331662MYCBP2chr13

77858502

-NAT8Lchr4

2070754

+
intron-3UTRENST00000407578ENST00000423729MYCBP2chr13

77858502

-NAT8Lchr4

2070754

+
intron-3UTRENST00000407578ENST00000331662MYCBP2chr13

77858502

-NAT8Lchr4

2070754

+
intron-3UTRENST00000357337ENST00000423729MYCBP2chr13

77858502

-NAT8Lchr4

2070754

+
intron-3UTRENST00000357337ENST00000331662MYCBP2chr13

77858502

-NAT8Lchr4

2070754

+
intron-3UTRENST00000360084ENST00000423729MYCBP2chr13

77858502

-NAT8Lchr4

2070754

+
intron-3UTRENST00000360084ENST00000331662MYCBP2chr13

77858502

-NAT8Lchr4

2070754

+
intron-3UTRENST00000482517ENST00000423729MYCBP2chr13

77858502

-NAT8Lchr4

2070754

+
intron-3UTRENST00000482517ENST00000331662MYCBP2chr13

77858502

-NAT8Lchr4

2070754

+

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FusionProtFeatures for MYCBP2_NAT8L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYCBP2

O75592

NAT8L

Q8N9F0

Atypical E3 ubiquitin-protein ligase which specificallymediates ubiquitination of threonine and serine residues on targetproteins, instead of ubiquitinating lysine residues(PubMed:29643511). Shows esterification activity towards boththreonine and serine, with a preference for threonine, and actsvia two essential catalytic cysteine residues that relay ubiquitinto its substrate via thioester intermediates (PubMed:29643511).Interacts with the E2 enzymes UBE2D1, UBE2D3, UBE2E1 and UBE2L3(PubMed:18308511, PubMed:29643511). Plays a key role in neuraldevelopment, probably by mediating ubiquitination of threonineresidues on target proteins (Probable). Involved in differentprocesses such as regulation of neurite outgrowth, synapticgrowth, synaptogenesis and axon degeneration (By similarity).Required for the formation of major central nervous system axontracts (By similarity). Required for proper axon growth byregulating axon navigation and axon branching: acts by regulatingthe subcellular location and stability of MAP3K12/DLK (Bysimilarity). Required for proper localization of retinogeniculateprojections but not for eye-specific segregation (By similarity).Regulates axon guidance in the olfactory system (By similarity).Involved in Wallerian axon degeneration, an evolutionarilyconserved process that drives the loss of damaged axons: acts bypromoting destabilization of NMNAT2, probably via ubiquitinationof NMNAT2 (By similarity). Catalyzes ubiquitination of threonineand/or serine residues on NMNAT2, consequences of threonine and/orserine ubiquitination are however unknown (PubMed:29643511).Regulates the internalization of TRPV1 in peripheral sensoryneurons (By similarity). May mediate ubiquitination and subsequentproteasomal degradation of TSC2/tuberin (PubMed:18308511).Independently of the E3 ubiquitin-protein ligase activity, alsoacts as a guanosine exchange factor (GEF) for RAN in neurons ofdorsal root ganglia (PubMed:26304119). May function as afacilitator or regulator of transcriptional activation by MYC(PubMed:9689053). {ECO:0000250|UniProtKB:Q7TPH6,ECO:0000269|PubMed:18308511, ECO:0000269|PubMed:26304119,ECO:0000269|PubMed:29643511, ECO:0000269|PubMed:9689053}. Plays a role in the regulation of lipogenesis byproducing N-acetylaspartate acid (NAA), a brain-specificmetabolite. NAA occurs in high concentration in brain and itshydrolysis plays a significant part in the maintenance of intactwhite matter. Promotes dopamine uptake by regulating TNF-alphaexpression. Attenuates methamphetamine-induced inhibition ofdopamine uptake. {ECO:0000269|PubMed:19524112}.

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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FusionGeneSequence for MYCBP2_NAT8L


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MYCBP2_NAT8L


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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RelatedDrugs for MYCBP2_NAT8L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MYCBP2_NAT8L


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