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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: 24280

FusionGeneSummary for NFKBIE_SLC29A1

check button Fusion gene summary
Fusion gene informationFusion gene name: NFKBIE_SLC29A1
Fusion gene ID: 24280
HgeneTgene
Gene symbol

NFKBIE

SLC29A1

Gene ID

4794

2030

Gene nameNFKB inhibitor epsilonsolute carrier family 29 member 1 (Augustine blood group)
SynonymsIKBEENT1
Cytomap

6p21.1

6p21.1

Type of geneprotein-codingprotein-coding
DescriptionNF-kappa-B inhibitor epsilonI-kappa-B-epsilonNF-kappa-BIEikB-EikB-epsilonikappaBepsilonnuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilonequilibrative nucleoside transporter 1equilibrative nitrobenzylmercaptopurine riboside (NBMPR)-sensitive nucleoside transporternucleoside transporter, es-typesolute carrier family 29 (equilibrative nucleoside transporter), member 1solute carrier famil
Modification date2018051920180523
UniProtAcc

O00221

Q99808

Ensembl transtripts involved in fusion geneENST00000275015, ENST00000393844, 
ENST00000313248, ENST00000427851, 
ENST00000371740, ENST00000371755, 
ENST00000371731, ENST00000393841, 
ENST00000371713, ENST00000371724, 
ENST00000371708, ENST00000472176, 
Fusion gene scores* DoF score2 X 3 X 2=121 X 1 X 1=1
# samples 21
** MAII scorelog2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: NFKBIE [Title/Abstract] AND SLC29A1 [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
TgeneSLC29A1

GO:0015858

nucleoside transport

12527552


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
TCGARVKIRCTCGA-A3-3311-01ANFKBIEchr6

44227780

-SLC29A1chr6

44194997

+
* 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
5CDS-5UTRENST00000275015ENST00000393844NFKBIEchr6

44227780

-SLC29A1chr6

44194997

+
5CDS-5UTRENST00000275015ENST00000313248NFKBIEchr6

44227780

-SLC29A1chr6

44194997

+
5CDS-5UTRENST00000275015ENST00000427851NFKBIEchr6

44227780

-SLC29A1chr6

44194997

+
5CDS-5UTRENST00000275015ENST00000371740NFKBIEchr6

44227780

-SLC29A1chr6

44194997

+
5CDS-5UTRENST00000275015ENST00000371755NFKBIEchr6

44227780

-SLC29A1chr6

44194997

+
5CDS-5UTRENST00000275015ENST00000371731NFKBIEchr6

44227780

-SLC29A1chr6

44194997

+
5CDS-5UTRENST00000275015ENST00000393841NFKBIEchr6

44227780

-SLC29A1chr6

44194997

+
5CDS-5UTRENST00000275015ENST00000371713NFKBIEchr6

44227780

-SLC29A1chr6

44194997

+
5CDS-5UTRENST00000275015ENST00000371724NFKBIEchr6

44227780

-SLC29A1chr6

44194997

+
5CDS-5UTRENST00000275015ENST00000371708NFKBIEchr6

44227780

-SLC29A1chr6

44194997

+
5CDS-intronENST00000275015ENST00000472176NFKBIEchr6

44227780

-SLC29A1chr6

44194997

+

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FusionProtFeatures for NFKBIE_SLC29A1


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

O00221

SLC29A1

Q99808

Inhibits NF-kappa-B by complexing with and trapping itin the cytoplasm. Inhibits DNA-binding of NF-kappa-B p50-p65 andp50-c-Rel complexes. {ECO:0000269|PubMed:9315679}. Mediates both influx and efflux of nucleosides acrossthe membrane (equilibrative transporter). It is sensitive (ES) tolow concentrations of the inhibitor nitrobenzylmercaptopurineriboside (NBMPR) and is sodium-independent. It has a higheraffinity for adenosine. Inhibited by dipyridamole and dilazep(anticancer chemotherapeutics drugs).

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 NFKBIE_SLC29A1


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 NFKBIE_SLC29A1


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
NFKBIEJUP, REL, NFKB1, RELA, NFKB2, NCOR2, HDAC4, HDAC5, LOC440434, ANKHD1, C1QBP, KBTBD7, BTRC, C2orf27B, XPO1, NFKBIA, YEATS4, PRPF4, SKA3, CDH1, RELB, DLDSLC29A1STK19, LGALS9, TMEM17, CREB3, CTDSPL, SRC, SIGLECL1, SLC22A9, APLNR, SLC39A12, GPR21, GPR114, SLC18A1, HTR3A, SLC17A2, SLC22A16, CHRM4, PTGIR, UPK1A, GNB2, FPR2, CD97, TRIM25


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 NFKBIE_SLC29A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneSLC29A1Q99808DB00898EthanolEquilibrative nucleoside transporter 1small moleculeapproved

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RelatedDiseases for NFKBIE_SLC29A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNFKBIEC0003873Rheumatoid Arthritis1CTD_human
HgeneNFKBIEC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneNFKBIEC0025202melanoma1CTD_human
TgeneSLC29A1C0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneSLC29A1C0030297Pancreatic Neoplasm1CTD_human
TgeneSLC29A1C0586323Alcohol Withdrawal Seizures1CTD_human