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Fusion gene ID: 23450 |
FusionGeneSummary for NAT8L_MDM4 |
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Fusion gene information | Fusion gene name: NAT8L_MDM4 | Fusion gene ID: 23450 | Hgene | Tgene | Gene symbol | NAT8L | MDM4 | Gene ID | 339983 | 4194 |
Gene name | N-acetyltransferase 8 like | MDM4, p53 regulator | |
Synonyms | CML3|NACED|NAT8-LIKE | HDMX|MDMX|MRP1 | |
Cytomap | 4p16.3 | 1q32.1 | |
Type of gene | protein-coding | protein-coding | |
Description | N-acetylaspartate synthetaseN-acetyltransferase 8-like (GCN5-related, putative)NAA synthetaseShaticamello-like protein 3 | protein 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 date | 20180519 | 20180519 | |
UniProtAcc | Q8N9F0 | O15151 | |
Ensembl transtripts involved in fusion gene | ENST00000423729, ENST00000331662, | ENST00000367182, ENST00000463049, ENST00000507825, ENST00000454264, ENST00000367183, ENST00000367180, ENST00000391947, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 7 X 3=126 |
# samples | 2 | 7 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | MDM4 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 9226370 |
Tgene | MDM4 | GO:0065003 | protein-containing complex assembly | 10608892 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | AW128860 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
3UTR-3UTR | ENST00000423729 | ENST00000367182 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-3UTR | ENST00000423729 | ENST00000463049 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-intron | ENST00000423729 | ENST00000507825 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-intron | ENST00000423729 | ENST00000454264 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-intron | ENST00000423729 | ENST00000367183 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-intron | ENST00000423729 | ENST00000367180 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-intron | ENST00000423729 | ENST00000391947 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-3UTR | ENST00000331662 | ENST00000367182 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-3UTR | ENST00000331662 | ENST00000463049 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-intron | ENST00000331662 | ENST00000507825 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-intron | ENST00000331662 | ENST00000454264 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-intron | ENST00000331662 | ENST00000367183 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-intron | ENST00000331662 | ENST00000367180 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
3UTR-intron | ENST00000331662 | ENST00000391947 | NAT8L | chr4 | 2067219 | + | MDM4 | chr1 | 204519186 | - |
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FusionProtFeatures for NAT8L_MDM4 |
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Hgene | Tgene |
NAT8L | MDM4 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for NAT8L_MDM4 |
![]() (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 NAT8L_MDM4 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NAT8L_MDM4 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NAT8L_MDM4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | MDM4 | C0017636 | Glioblastoma | 1 | CTD_human |
Tgene | MDM4 | C0032273 | Pneumoconiosis | 1 | CTD_human |
Tgene | MDM4 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Tgene | MDM4 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Tgene | MDM4 | C1458155 | Mammary Neoplasms | 1 | CTD_human |