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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: 3732

FusionGeneSummary for B4GALT1_NFX1

check button Fusion gene summary
Fusion gene informationFusion gene name: B4GALT1_NFX1
Fusion gene ID: 3732
HgeneTgene
Gene symbol

B4GALT1

NFX1

Gene ID

2683

4799

Gene namebeta-1,4-galactosyltransferase 1nuclear transcription factor, X-box binding 1
SynonymsB4GAL-T1|CDG2D|GGTB2|GT1|GTB|beta4Gal-T1NFX2|TEG-42|Tex42
Cytomap

9p21.1

9p13.3

Type of geneprotein-codingprotein-coding
Descriptionbeta-1,4-galactosyltransferase 1UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1beta-1,4-GalTase 1glycoproteintranscriptional repressor NF-X1nuclear transcription factor, X box-binding protein 1
Modification date2018051920180523
UniProtAcc

P15291

Q12986

Ensembl transtripts involved in fusion geneENST00000535206, ENST00000379731, 
ENST00000541851, 
ENST00000379540, 
ENST00000379521, ENST00000318524, 
ENST00000463421, 
Fusion gene scores* DoF score9 X 6 X 9=4869 X 8 X 5=360
# samples 139
** MAII scorelog2(13/486*10)=-1.90244469057733
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/360*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: B4GALT1 [Title/Abstract] AND NFX1 [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
HgeneB4GALT1

GO:0006487

protein N-linked glycosylation

16157350

HgeneB4GALT1

GO:0009312

oligosaccharide biosynthetic process

2120039

HgeneB4GALT1

GO:0051260

protein homooligomerization

7744867

TgeneNFX1

GO:0000122

negative regulation of transcription by RNA polymerase II

7964459


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
TCGARVBRCATCGA-AO-A0JD-01AB4GALT1chr9

33135187

-NFX1chr9

33354084

+
* 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
Frame-shiftENST00000535206ENST00000379540B4GALT1chr9

33135187

-NFX1chr9

33354084

+
Frame-shiftENST00000535206ENST00000379521B4GALT1chr9

33135187

-NFX1chr9

33354084

+
5CDS-intronENST00000535206ENST00000318524B4GALT1chr9

33135187

-NFX1chr9

33354084

+
5CDS-intronENST00000535206ENST00000463421B4GALT1chr9

33135187

-NFX1chr9

33354084

+
Frame-shiftENST00000379731ENST00000379540B4GALT1chr9

33135187

-NFX1chr9

33354084

+
Frame-shiftENST00000379731ENST00000379521B4GALT1chr9

33135187

-NFX1chr9

33354084

+
5CDS-intronENST00000379731ENST00000318524B4GALT1chr9

33135187

-NFX1chr9

33354084

+
5CDS-intronENST00000379731ENST00000463421B4GALT1chr9

33135187

-NFX1chr9

33354084

+
intron-3CDSENST00000541851ENST00000379540B4GALT1chr9

33135187

-NFX1chr9

33354084

+
intron-3CDSENST00000541851ENST00000379521B4GALT1chr9

33135187

-NFX1chr9

33354084

+
intron-intronENST00000541851ENST00000318524B4GALT1chr9

33135187

-NFX1chr9

33354084

+
intron-intronENST00000541851ENST00000463421B4GALT1chr9

33135187

-NFX1chr9

33354084

+

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FusionProtFeatures for B4GALT1_NFX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
B4GALT1

P15291

NFX1

Q12986

Binds to the X-box motif of MHC class II genes andrepresses their expression. May play an important role inregulating the duration of an inflammatory response by limitingthe period in which MHC class II molecules are induced byinterferon-gamma. Isoform 3 binds to the X-box motif of TERTpromoter and represses its expression. Together with PABPC1 orPABPC4, isoform 1 acts as a coactivator for TERT expression.Mediates E2-dependent ubiquitination.{ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:15371341,ECO:0000269|PubMed:17267499}.

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 B4GALT1_NFX1


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 B4GALT1_NFX1


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
B4GALT1LALBA, CDK11A, ELAVL1, JUP, B4GALT1, TFRC, TUBA1A, TUBB, TSPAN5, POMK, PTCH1, TNF, HTR3C, PON2, IFI30, TMEM30B, TMPRSS11B, MME, MMP10, TCTN2, IL13RA2, IL27RA, KIAA1467, GAA, TRIM25NFX1UBE2N, MAML3, SIN3A, USP9X, PABPC1, EEF1A2, MATR3, PABPC3, HSPA1A, HNRNPM, HNRNPU, RPL13, SRSF4, HIST1H2AE, RPL7A, FAM208B, LARP1, DDX5, DMD, NCL, RPL13A, RPL17, RPL22, RPL3, RPL6, HNRNPA2B1, HNRNPH1, RPS19, RPS3A, SRSF3, APC2, YBX1, HIST1H4E, HECW2, SHMT2, MOV10, NXF1, BMI1, XPO1, FAM46A, APBA3, ZNF263, UBC


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 B4GALT1_NFX1


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 B4GALT1_NFX1


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