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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SEC14L1-MGAT5B (FusionGDB2 ID:79494)

Fusion Gene Summary for SEC14L1-MGAT5B

check button Fusion gene summary
Fusion gene informationFusion gene name: SEC14L1-MGAT5B
Fusion gene ID: 79494
HgeneTgene
Gene symbol

SEC14L1

MGAT5B

Gene ID

6397

146664

Gene nameSEC14 like lipid binding 1alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
SynonymsPRELID4A|SEC14LGnT-IX|GnT-VB
Cytomap

17q25.2-q25.3

17q25.2

Type of geneprotein-codingprotein-coding
DescriptionSEC14-like protein 1alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase BN-acetylglucosaminyl-transferase VbN-acetylglucosaminyltransferase IXalpha-mannoside beta-1,6-N-acetylglucosaminyltransferase Bbeta(1,6)-N-acetylglucosaminyltransferase VglcNAc-T
Modification date2020031320200313
UniProtAcc.

Q3V5L5

Ensembl transtripts involved in fusion geneENST00000392476, ENST00000430767, 
ENST00000564509, ENST00000585618, 
ENST00000413679, ENST00000436233, 
ENST00000443798, ENST00000591437, 
ENST00000431431, 		ENST00000569840, 
ENST00000301618, ENST00000565675, 
ENST00000374998, ENST00000428789, 
Fusion gene scores* DoF score14 X 8 X 8=8963 X 4 X 4=48
# samples 145
** MAII scorelog2(14/896*10)=-2.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SEC14L1 [Title/Abstract] AND MGAT5B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSEC14L1(75139741)-MGAT5B(74921048), # samples:2
Anticipated loss of major functional domain due to fusion event.SEC14L1-MGAT5B seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneSEC14L1

GO:0015871

choline transport

17092608

TgeneMGAT5B

GO:0018242

protein O-linked glycosylation via serine

19846580


check buttonFusion gene breakpoints across SEC14L1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across MGAT5B (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-CG-4449-01ASEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
ChimerDB4STADTCGA-CG-4449-01ASEC14L1chr17

75139741

-MGAT5Bchr17

74921048

+


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Fusion Gene ORF analysis for SEC14L1-MGAT5B

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-shiftENST00000392476ENST00000569840SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
Frame-shiftENST00000392476ENST00000301618SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000392476ENST00000565675SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000392476ENST00000374998SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000392476ENST00000428789SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
Frame-shiftENST00000430767ENST00000569840SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
Frame-shiftENST00000430767ENST00000301618SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000430767ENST00000565675SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000430767ENST00000374998SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000430767ENST00000428789SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-3CDSENST00000564509ENST00000569840SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-3CDSENST00000564509ENST00000301618SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-intronENST00000564509ENST00000565675SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-intronENST00000564509ENST00000374998SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-intronENST00000564509ENST00000428789SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
Frame-shiftENST00000585618ENST00000569840SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
Frame-shiftENST00000585618ENST00000301618SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000585618ENST00000565675SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000585618ENST00000374998SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000585618ENST00000428789SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
Frame-shiftENST00000413679ENST00000569840SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
Frame-shiftENST00000413679ENST00000301618SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000413679ENST00000565675SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000413679ENST00000374998SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000413679ENST00000428789SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
Frame-shiftENST00000436233ENST00000569840SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
Frame-shiftENST00000436233ENST00000301618SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000436233ENST00000565675SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000436233ENST00000374998SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000436233ENST00000428789SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
Frame-shiftENST00000443798ENST00000569840SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
Frame-shiftENST00000443798ENST00000301618SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000443798ENST00000565675SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000443798ENST00000374998SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
5CDS-intronENST00000443798ENST00000428789SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-3CDSENST00000591437ENST00000569840SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-3CDSENST00000591437ENST00000301618SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-intronENST00000591437ENST00000565675SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-intronENST00000591437ENST00000374998SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-intronENST00000591437ENST00000428789SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-3CDSENST00000431431ENST00000569840SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-3CDSENST00000431431ENST00000301618SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-intronENST00000431431ENST00000565675SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-intronENST00000431431ENST00000374998SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+
intron-intronENST00000431431ENST00000428789SEC14L1chr17

75139741

+MGAT5Bchr17

74921048

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for SEC14L1-MGAT5B


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
SEC14L1chr1775139741+MGAT5Bchr1774921047+0.001087960.9989121
SEC14L1chr1775139741+MGAT5Bchr1774921047+0.001087960.9989121

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SEC14L1-MGAT5B


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MGAT5B

Q3V5L5

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAc-beta1,2-Man-alpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAc-beta1,2-Man-alpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of neuronal cells via its activity in the O-mannosyl glycan pathway. {ECO:0000269|PubMed:12941944, ECO:0000269|PubMed:14617637, ECO:0000269|PubMed:14623122, ECO:0000269|PubMed:16606368, ECO:0000269|PubMed:16857188, ECO:0000269|PubMed:19846580}.

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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Fusion Gene Sequence for SEC14L1-MGAT5B


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for SEC14L1-MGAT5B


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


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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Related Drugs for SEC14L1-MGAT5B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SEC14L1-MGAT5B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMGAT5BC0032460Polycystic Ovary Syndrome1CTD_human
TgeneMGAT5BC1136382Sclerocystic Ovaries1CTD_human