FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 23450

FusionGeneSummary for NAT8L_MDM4

check button Fusion gene summary
Fusion gene informationFusion gene name: NAT8L_MDM4
Fusion gene ID: 23450
HgeneTgene
Gene symbol

NAT8L

MDM4

Gene ID

339983

4194

Gene nameN-acetyltransferase 8 likeMDM4, p53 regulator
SynonymsCML3|NACED|NAT8-LIKEHDMX|MDMX|MRP1
Cytomap

4p16.3

1q32.1

Type of geneprotein-codingprotein-coding
DescriptionN-acetylaspartate synthetaseN-acetyltransferase 8-like (GCN5-related, putative)NAA synthetaseShaticamello-like protein 3protein Mdm4MDM4 protein variant GMDM4 protein variant YMDM4-related protein 1Mdm4 p53 binding protein homologdouble minute 4, human homolog of; p53-binding proteinmdm2-like p53-binding proteinprotein Mdmx
Modification date2018051920180519
UniProtAcc

Q8N9F0

O15151

Ensembl transtripts involved in fusion geneENST00000423729, ENST00000331662, 
ENST00000367182, ENST00000463049, 
ENST00000507825, ENST00000454264, 
ENST00000367183, ENST00000367180, 
ENST00000391947, 
Fusion gene scores* DoF score2 X 2 X 2=86 X 7 X 3=126
# samples 27
** MAII scorelog2(2/8*10)=1.32192809488736log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NAT8L [Title/Abstract] AND MDM4 [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
TgeneMDM4

GO:0000122

negative regulation of transcription by RNA polymerase II

9226370

TgeneMDM4

GO:0065003

protein-containing complex assembly

10608892


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
ChiTaRS3.1AW128860NAT8Lchr4

2067219

+MDM4chr1

204519186

-
* 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
3UTR-3UTRENST00000423729ENST00000367182NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-3UTRENST00000423729ENST00000463049NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-intronENST00000423729ENST00000507825NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-intronENST00000423729ENST00000454264NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-intronENST00000423729ENST00000367183NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-intronENST00000423729ENST00000367180NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-intronENST00000423729ENST00000391947NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-3UTRENST00000331662ENST00000367182NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-3UTRENST00000331662ENST00000463049NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-intronENST00000331662ENST00000507825NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-intronENST00000331662ENST00000454264NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-intronENST00000331662ENST00000367183NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-intronENST00000331662ENST00000367180NAT8Lchr4

2067219

+MDM4chr1

204519186

-
3UTR-intronENST00000331662ENST00000391947NAT8Lchr4

2067219

+MDM4chr1

204519186

-

Top

FusionProtFeatures for NAT8L_MDM4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NAT8L

Q8N9F0

MDM4

O15151

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}. Inhibits p53/TP53- and TP73/p73-mediated cell cyclearrest and apoptosis by binding its transcriptional activationdomain. Inhibits degradation of MDM2. Can reverse MDM2-targeteddegradation of TP53 while maintaining suppression of TP53transactivation and apoptotic functions.{ECO:0000269|PubMed:16163388, ECO:0000269|PubMed:16511572}.

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


Top

FusionGeneSequence for NAT8L_MDM4


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).

Top

FusionGenePPI for NAT8L_MDM4


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


Top

RelatedDrugs for NAT8L_MDM4


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

Top

RelatedDiseases for NAT8L_MDM4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMDM4C0017636Glioblastoma1CTD_human
TgeneMDM4C0032273Pneumoconiosis1CTD_human
TgeneMDM4C0041696Unipolar Depression1PSYGENET
TgeneMDM4C1269683Major Depressive Disorder1PSYGENET
TgeneMDM4C1458155Mammary Neoplasms1CTD_human