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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: 3720

FusionGeneSummary for B4GALNT1_EPYC

check button Fusion gene summary
Fusion gene informationFusion gene name: B4GALNT1_EPYC
Fusion gene ID: 3720
HgeneTgene
Gene symbol

B4GALNT1

EPYC

Gene ID

2583

1833

Gene namebeta-1,4-N-acetyl-galactosaminyltransferase 1epiphycan
SynonymsGALGT|GALNACT|GalNAc-T|SPG26DSPG3|PGLB|Pg-Lb|SLRR3B
Cytomap

12q13.3

12q21.33

Type of geneprotein-codingprotein-coding
Descriptionbeta-1,4 N-acetylgalactosaminyltransferase 1GD2 synthase, GM2 synthaseGM2/GD2 synthaseUDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetyepiphycandermatan sulfate proteoglycan 3epiphycan proteoglycanproteoglycan-lbsmall chondroitin/dermatan sulfate proteoglycan
Modification date2018051920180519
UniProtAcc

Q00973

Q99645

Ensembl transtripts involved in fusion geneENST00000341156, ENST00000418555, 
ENST00000449184, ENST00000550764, 
ENST00000552350, ENST00000550943, 
ENST00000261172, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 4 X 4=128
# samples 37
** MAII scorelog2(3/8*10)=1.90689059560852log2(7/128*10)=-0.870716983055034
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: B4GALNT1 [Title/Abstract] AND EPYC [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
TCGARVSARCTCGA-WK-A8XO-01AB4GALNT1chr12

58025698

-EPYCchr12

91396355

-
* 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-5UTRENST00000341156ENST00000261172B4GALNT1chr12

58025698

-EPYCchr12

91396355

-
5CDS-5UTRENST00000418555ENST00000261172B4GALNT1chr12

58025698

-EPYCchr12

91396355

-
5CDS-5UTRENST00000449184ENST00000261172B4GALNT1chr12

58025698

-EPYCchr12

91396355

-
5CDS-5UTRENST00000550764ENST00000261172B4GALNT1chr12

58025698

-EPYCchr12

91396355

-
5CDS-5UTRENST00000552350ENST00000261172B4GALNT1chr12

58025698

-EPYCchr12

91396355

-
5UTR-5UTRENST00000550943ENST00000261172B4GALNT1chr12

58025698

-EPYCchr12

91396355

-

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FusionProtFeatures for B4GALNT1_EPYC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
B4GALNT1

Q00973

EPYC

Q99645

Involved in the biosynthesis of gangliosides GM2, GD2and GA2. {ECO:0000269|PubMed:1601877}. May have a role in bone formation and also inestablishing the ordered structure of cartilage through matrixorganization.

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 B4GALNT1_EPYC


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 B4GALNT1_EPYC


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
B4GALNT1B4GALNT1, ITM2B, TCTN2, TMED6, ST8SIA4, PCDH20, TRIM25EPYCCRK, PLCG2


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 B4GALNT1_EPYC


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 B4GALNT1_EPYC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneB4GALNT1C1836632SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder)1ORPHANET;UNIPROT