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: 24243

FusionGeneSummary for NFIL3_AUH

check button Fusion gene summary
Fusion gene informationFusion gene name: NFIL3_AUH
Fusion gene ID: 24243
HgeneTgene
Gene symbol

NFIL3

AUH

Gene ID

4783

549

Gene namenuclear factor, interleukin 3 regulatedAU RNA binding methylglutaconyl-CoA hydratase
SynonymsE4BP4|IL3BP1|NF-IL3A|NFIL3A-
Cytomap

9q22.31

9q22.31

Type of geneprotein-codingprotein-coding
Descriptionnuclear factor interleukin-3-regulated proteinE4 promoter-binding protein 4interleukin-3 promoter transcriptional activatorinterleukin-3-binding protein 1transcriptional activator NF-IL3Amethylglutaconyl-CoA hydratase, mitochondrial3-methylglutaconyl-CoA hydrataseAU RNA binding protein/enoyl-CoA hydrataseAU RNA-binding protein/enoyl-Coenzyme A hydrataseAU-binding protein/Enoyl-CoA hydrataseAU-specific RNA-binding enoyl-CoA hydratase
Modification date2018052320180523
UniProtAcc

Q16649

Q13825

Ensembl transtripts involved in fusion geneENST00000297689, ENST00000303617, 
ENST00000375731, ENST00000422391, 
ENST00000478465, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 4 X 4=80
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NFIL3 [Title/Abstract] AND AUH [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
TCGALDSARCTCGA-HB-A3YV-01ANFIL3chr9

94185922

-AUHchr9

93983274

-
* 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
5UTR-3CDSENST00000297689ENST00000303617NFIL3chr9

94185922

-AUHchr9

93983274

-
5UTR-3CDSENST00000297689ENST00000375731NFIL3chr9

94185922

-AUHchr9

93983274

-
5UTR-intronENST00000297689ENST00000422391NFIL3chr9

94185922

-AUHchr9

93983274

-
5UTR-intronENST00000297689ENST00000478465NFIL3chr9

94185922

-AUHchr9

93983274

-

Top

FusionProtFeatures for NFIL3_AUH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NFIL3

Q16649

AUH

Q13825

Acts as a transcriptional regulator that recognizes andbinds to the sequence 5'-[GA]TTA[CT]GTAA[CT]-3', a sequencepresent in many cellular and viral promoters. Repressestranscription from promoters with activating transcription factor(ATF) sites. Represses promoter activity in osteoblasts (Bysimilarity). Represses transcriptional activity of PER1 (Bysimilarity). Represses transcriptional activity of PER2 via the B-site on the promoter (By similarity). Activates transcription fromthe interleukin-3 promoter in T-cells. Competes for the sameconsensus-binding site with PAR DNA-binding factors (DBP, HLF andTEF) (By similarity). Component of the circadian clock that actsas a negative regulator for the circadian expression of PER2oscillation in the cell-autonomous core clock (By similarity).Protects pro-B cells from programmed cell death (By similarity).{ECO:0000250, ECO:0000269|PubMed:1620116,ECO:0000269|PubMed:7565758, ECO:0000269|PubMed:8836190}. Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA (PubMed:11738050, PubMed:12434311,PubMed:12655555). Also has itaconyl-CoA hydratase activity byconverting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxifyitaconate, a vitamin B12-poisoning metabolite (PubMed:29056341).Has very low enoyl-CoA hydratase activity (PubMed:7892223). Wasoriginally identified as RNA-binding protein that binds in vitroto clustered 5'-AUUUA-3' motifs (PubMed:7892223).{ECO:0000269|PubMed:11738050, ECO:0000269|PubMed:12434311,ECO:0000269|PubMed:12655555, ECO:0000269|PubMed:7892223,ECO:0000303|PubMed:29056341}.

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 NFIL3_AUH


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 NFIL3_AUH


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
NFIL3DR1, CBX8, MAFG, MAFF, BATF, NFIL3, DDIT3, TRAF2, AMOTL2, DEC1, CREB1, DNMT3L, RFWD2, STK40, ATF1, MCM9AUHAUH, ECHDC2, OXLD1, ATP5D, MRPL21, BPNT1, FAM107A


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 NFIL3_AUH


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 NFIL3_AUH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNFIL3C0877792Sleep Disorders, Circadian Rhythm1CTD_human
TgeneAUHC03427273-@METHYLGLUTACONIC ACIDURIA, TYPE I1CTD_human;ORPHANET;UNIPROT