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	Fusion Gene Summary
	Fusion Gene Breakpoints
	Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Geness
	Fusion Genomic Features
	Fusion Gene ORF Annotations
	Fusion Protein Retained/Non-Retained Functional Features
	Fusion Transcript Sequences
	Fusion Protein Sequences
	Personalized Fusion Protein Sequences
	Fusion Gene Expressed Samples
	Related Drugs

Fusion gene:ALG6_UBE2U (FusionGDB2 ID:HG29929TG148581)

Fusion Gene Summary for ALG6_UBE2U

Fusion gene summary

Fusion gene information	Fusion gene name: ALG6_UBE2U
	Fusion gene ID: hg29929tg148581
		Hgene	Tgene
	Gene symbol	ALG6	UBE2U
	Gene ID	29929	148581
	Gene name	ALG6 alpha-1,3-glucosyltransferase	ubiquitin conjugating enzyme E2 U
	Synonyms	CDG1C	-
	Cytomap	1p31.3	1p31.3
	Type of gene	protein-coding	protein-coding
	Description	dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferaseMan(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferaseasparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)asparagine-linked glycosylation 6 homolog (yeast	ubiquitin-conjugating enzyme E2 UE2 ubiquitin-conjugating enzyme Utesticular tissue protein Li 216ubiquitin carrier protein Uubiquitin conjugating enzyme E2 U (putative)ubiquitin conjugating enzyme E2U (putative)ubiquitin-protein ligase U
	Modification date	20240305	20240411
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000263440, ENST00000371108, ENST00000494765,
Fusion gene scores	* DoF score	* DoF score (Degree of Frequency) = # partners X # break points X # disease types 6 X 6 X 7=252	* DoF score (Degree of Frequency) = # partners X # break points X # disease types 2 X 7 X 3=42
	# samples	9	7
	** MAII score	** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score10) log2(9/25210)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score10) log2(7/4210)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: ALG6 [Title/Abstract] AND UBE2U [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ALG6(63836730)-UBE2U(64707334), # samples:1

Fusion gene breakpoints across ALG6 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across UBE2U (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Breakpoints for ALG6_UBE2U

RNA-seq based exon junction arranged fusion gene breakpoints from 8 resources (TCGA, CCLE, cBioPortal, GenBank, ChimerDB, ChimerKB, ChildHoodFusions, and GTEx). For the expressed sample information, go to Fusion Gene Sample section.

Hgene	Hchr	Hbp	Tgene	Tchr	Tbp
ALG6	chr1	63836730	UBE2U	chr1	63836730
ALG6	chr1	63836730	UBE2U	chr1	64707335
ALG6	chr1	63371059	UBE2U	chr1	64241652

DNA-seq based exon junction arranged fusion gene breakpoints from dbVar. For the expressed sample information, go to Fusion Gene Sample section.

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

SV type

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Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Genes for ALG6_UBE2U

To generate these tumorigenic scenario annotations, we implemented a deduction-first, retrieval-later computational framework. The pipeline first applies rule-guided reasoning across ten core mechanistic categories (M1–M10) derived from fusion gene biology to infer candidate mechanisms, tumorigenic scenarios, targeting points, and targeting backgrounds. To ensure empirical accountability, a governed Python workflow retrieves literature candidates via NCBI E-utilities and Europe PMC using tiered searches. Using JSON Schema-constrained LLM evidence judges (GPT-5.6 Luna and Terra), retrieved articles are evaluated for specificity and confidence without de novo PMID generation. This produces two distinct versions: a strict version restricted to high- or medium-confidence fusion-specific evidence, and an extended version incorporating broader gene-, pathway-, and contextual evidence.

* We have 10 tumorigenic mechanism categories of fusion genes as shown below.

Constitutively Active Kinases, Catalytic Domain Dysregulation, & Transmembrane Ligand Fusions	Aberrant Chimeric Transcription Factor / Fusion Transcription Factor Activity	Epigenetic Reprogramming / Histone Modifier Dysregulation	Chromatin Remodeling Dysregulation	Condensate-Driven Transcriptional Rewiring / LLP	Promoter / Enhancer Hijacking	Dominant-Negative Antagonism	Cell Cycle / Checkpoint Bypass / RNA Processing Dysregulation	Subcellular Mislocalization / Spatial Dysregulation	Nuclear Body / Sub-organellar Architecture Disruption & Differentiation Blockade

* Strict version: Restricted to high- or medium-confidence fusion-specific evidence.

Fusion Gene Name	Mechanism Category	Mechanism PubMed	Tumorigenic Scenarios	Tumorigenic Scenario PubMed	Targeting Points	Targeting PubMed	Mechanism Background	Mechanism Background PubMed
ALG6-UBE2U	Cell Cycle / Checkpoint Bypass / RNA Processing Dysregulation M8		Promoter swap alters ubiquitin-conjugating enzyme E2 U expression, modifying atypical ubiquitin chain formation and DNA repair.		Proteasome inhibitors; E1/E2 ubiquitin cascade inhibitors		Solid tumors

* Extended version: Includes all strict-level fusion evidence plus broader gene-, pathway-, and low-confidence contextual evidence.

Fusion Gene Name	Mechanism Category	Mechanism PubMed	Tumorigenic Scenarios	Tumorigenic Scenario PubMed	Targeting Points	Targeting PubMed	Mechanism Background	Mechanism Background PubMed
ALG6-UBE2U	Cell Cycle / Checkpoint Bypass / RNA Processing Dysregulation M8		Promoter swap alters ubiquitin-conjugating enzyme E2 U expression, modifying atypical ubiquitin chain formation and DNA repair.		Proteasome inhibitors; E1/E2 ubiquitin cascade inhibitors		Solid tumors

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	.

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	ALG6	GO:0006487	protein N-linked glycosylation	10924277

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Fusion Genomic Features for ALG6_UBE2U

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of In-frame fusion genes. 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
ALG6	chr1	63836730	+	UBE2U	chr1	64707334	+	9.86e-03	9.90e-01

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of 5UTR-3CSD fusion genes (N-truncated cases).

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of 5CDS-3UTR fusion genes (C-truncated cases).

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution of six genomic regulatory feature tracks across a ±5 kb window centered on the fusion breakpoints. We input the breakpoint sequences into AlphaGenome and obtained predicted genome tracks at single-base-pair resolution for each modality by running a single forward pass over the reference sequence. Specifically, for each breakpoint, AlphaGenome processed and returned predicted track data across diverse modalities, which were then averaged across all tracks within each output type and visualized across the ±5 kb window. The left panel shows the 5'-gene breakpoint ±5 kb area, and the right panel shows the 3'-gene breakpoint area, with tracks grouped by category: chromatin accessibility (DNase-seq, ATAC-seq), active transcription (RNA-seq, CAGE), and chromatin binding (ChIP-Histone, ChIP-TF).

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Fusion Gene ORF Annotations for ALG6_UBE2U

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-3UTR	ENST00000263440	ENST00000464349	ALG6	chr1	63836730	+	UBE2U	chr1	64707334	+
5CDS-3UTR	ENST00000371108	ENST00000464349	ALG6	chr1	63836730	+	UBE2U	chr1	64707334	+
In-frame	ENST00000263440	ENST00000371076	ALG6	chr1	63836730	+	UBE2U	chr1	64707334	+
In-frame	ENST00000371108	ENST00000371076	ALG6	chr1	63836730	+	UBE2U	chr1	64707334	+

ORFfinder Result Based On The Fusion Transcript Sequences of the In-frame Fusion Genes.

Henst	Tenst	Hgene	Hchr	Hbp	Tgene	Tchr	Tbp	Seq length (transcript)	Seq length (peptide)
ENST00000263440	ENST00000371076	ALG6	chr1	63836730	UBE2U	chr1	64707334	290	55
ENST00000371108	ENST00000371076	ALG6	chr1	63836730	UBE2U	chr1	64707334	387	285

ORFfinder Result Based On The Fusion Transcript Sequences of the 5UTR-3CDS Fusion Genes for N-Truncated Protein Search.

Henst

Tenst

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

Seq length
(transcript)

Seq length
(peptide)

ORFfinder Result Based On The Fusion Transcript Sequences of the 5CDS-3UTR Fusion Genes for C-Truncated Protein Search.

Henst

Tenst

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

Seq length
(transcript)

Seq length
(peptide)

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Tgene	Tchr	Tbp	No-coding score	Coding score
ENST00000263440	ENST00000371076	ALG6	chr1	63836730	UBE2U	chr1	64707334	6.26e-02	9.37e-01
ENST00000371108	ENST00000371076	ALG6	chr1	63836730	UBE2U	chr1	64707334	4.52e-02	9.55e-01

DeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5UTR-3CDS Fusion Genes (Potential N-Truncated Proteins).

Henst

Tenst

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

No-coding score

Coding score

DeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5CDS-3UTR Fusion Genes (Potential C-Truncated Proteins).

Henst	Tenst	Hgene	Hchr	Hbp	Tgene	Tchr	Tbp	No-coding score	Coding score
ENST00000263440	ENST00000464349	ALG6	chr1	63836730	UBE2U	chr1	64707334	0.00e+00	2.80e-01
ENST00000371108	ENST00000464349	ALG6	chr1	63836730	UBE2U	chr1	64707334	0.00e+00	1.34e-01

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Fusion Protein Retained/Non-Retained Functional Features for ALG6_UBE2U

Protein Level Annotation from FGviewer
* Retention 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 (visualization across fusion protein length).

No matching images found for ${hg}_${tg}.

- In-frame and retained protein feature among the 13 regional features (texts).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

UBE2U

chr1:63836730

chr1:64707334

ENST00000371076

Q5VVX9

294_306

198.33333333333334

227.0

Compositional bias

Acidic residues

Tgene

UBE2U

chr1:63836730

chr1:64707334

ENST00000371076

Q5VVX9

309_321

198.33333333333334

227.0

Compositional bias

Polar residues

Tgene

UBE2U

chr1:63836730

chr1:64707334

ENST00000371076

Q5VVX9

285_321

198.33333333333334

227.0

Region

Disordered

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

UBE2U

chr1:63836730

chr1:64707334

ENST00000371076

Q5VVX9

4_153

198.33333333333334

227.0

Domain

UBC core

- Retained PPIs in in-frame fusion.

Partner

Hgene

Hbp

Tgene

Tbp

ENST

UniProt

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Hgene

Hbp

Tgene

Tbp

ENST

UniProt

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Fusion Transcript Sequence for ALG6_UBE2U

In-frame Fusion Transcript Sequences.

>ALG6_UBE2U_ENST00000263440_ENST00000371076_63836730_64707334 length=587nt 
 Breakpoint=290nt
GGATACTTCTACATAGACATAATCAAGTTTTGACTATTTGGAAACCAAGCATCATTAAAATTCTCTCAAACTCCTAATTGCGAAGAATCGATAACATTTCAAGAAGTGATAACATTTCTCTGAACAAGAAAAGAAGTGATTGACCACGTT
TTAAAAGTACTCTGGCACTGGTGCTGTGTTTTCTTCCCCTCCCTAAATTTGAAGAACTATGGAGAAATGGTACTTGATGACAGTAGTGGTTTTAATAGGACTAACAGTACGATGGACAGTGTCTCTTAATTCTTATTCAGTGCTCAAAGT
TCCAAATTTCATTGGACAGTATTACAAATGGAAGAAAATGGATCTACAGCATCAGAAAGAATGGAATTTAAAATGAAAAATCTTTCTTTGGAAGCAGCATAGGGGAAGAGCATGAGCTTCAGAGTCAAACAGATGTTGGAGAAATTCTTA
ACCACTCTGAACTTGTTTTTTTATCTGTTAAATGGAGATAACCTTACCTATCTTGCAAAGTTGTTTTGCATTTGACGCTTATTATTTTATATATATGATTTCATTCGAGATATAAATAAAAATTATATAAAAATGTG

>ALG6_UBE2U_ENST00000371108_ENST00000371076_63836730_64707334 length=684nt 
 Breakpoint=387nt
CGGAAGGCCGGAGGGGCAGTCCGCCGCGGGGGCGAGCGCGCATGCGCCTTCCTGGGACCCACGGCAGGCGCGAATCCCAGCGGCCGGCGGGCGGCGGGGATACTTCTACATAGACATAATCAAGTTTTGACTATTTGGAAACCAAGCATC
ATTAAAATTCTCTCAAACTCCTAATTGCGAAGAATCGATAACATTTCAAGAAGTGATAACATTTCTCTGAACAAGAAAAGAAGTGATTGACCACGTTTTAAAAGTACTCTGGCACTGGTGCTGTGTTTTCTTCCCCTCCCTAAATTTGAA
GAACTATGGAGAAATGGTACTTGATGACAGTAGTGGTTTTAATAGGACTAACAGTACGATGGACAGTGTCTCTTAATTCTTATTCAGTGCTCAAAGTTCCAAATTTCATTGGACAGTATTACAAATGGAAGAAAATGGATCTACAGCATC
AGAAAGAATGGAATTTAAAATGAAAAATCTTTCTTTGGAAGCAGCATAGGGGAAGAGCATGAGCTTCAGAGTCAAACAGATGTTGGAGAAATTCTTAACCACTCTGAACTTGTTTTTTTATCTGTTAAATGGAGATAACCTTACCTATCT
TGCAAAGTTGTTTTGCATTTGACGCTTATTATTTTATATATATGATTTCATTCGAGATATAAATAAAAATTATATAAAAATGTG

N-Truncated Transcript (5UTR-3CDS) Sequences

C-Truncated Transcript (5CDS-3UTR) Sequences

>ALG6_UBE2U_ENST00000263440_ENST00000464349_63836730_64707334 length=290nt 
 Breakpoint=290nt
GGATACTTCTACATAGACATAATCAAGTTTTGACTATTTGGAAACCAAGCATCATTAAAATTCTCTCAAACTCCTAATTGCGAAGAATCGATAACATTTCAAGAAGTGATAACATTTCTCTGAACAAGAAAAGAAGTGATTGACCACGTT
TTAAAAGTACTCTGGCACTGGTGCTGTGTTTTCTTCCCCTCCCTAAATTTGAAGAACTATGGAGAAATGGTACTTGATGACAGTAGTGGTTTTAATAGGACTAACAGTACGATGGACAGTGTCTCTTAATTCTTATTCAG

>ALG6_UBE2U_ENST00000371108_ENST00000464349_63836730_64707334 length=387nt 
 Breakpoint=387nt
CGGAAGGCCGGAGGGGCAGTCCGCCGCGGGGGCGAGCGCGCATGCGCCTTCCTGGGACCCACGGCAGGCGCGAATCCCAGCGGCCGGCGGGCGGCGGGGATACTTCTACATAGACATAATCAAGTTTTGACTATTTGGAAACCAAGCATC
ATTAAAATTCTCTCAAACTCCTAATTGCGAAGAATCGATAACATTTCAAGAAGTGATAACATTTCTCTGAACAAGAAAAGAAGTGATTGACCACGTTTTAAAAGTACTCTGGCACTGGTGCTGTGTTTTCTTCCCCTCCCTAAATTTGAA
GAACTATGGAGAAATGGTACTTGATGACAGTAGTGGTTTTAATAGGACTAACAGTACGATGGACAGTGTCTCTTAATTCTTATTCAG

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Fusion Protein Sequence for ALG6_UBE2U

In-frame Fusion Protein Sequences.

>ALG6_UBE2U_ENST00000263440_ENST00000371076_63836730_64707334 length=55nt
MEKWYLMTVVVLIGLTVRWTVSLNSYSVLKVPNFIGQYYKWKKMDLQHQKEWNLK

>ALG6_UBE2U_ENST00000371108_ENST00000371076_63836730_64707334 length=285nt
MAPLLLQLAVLGAALAAAALVLISIVAFTTATKMPALHRHEEEKFFLNAKGQKETLPSIWDSPTKQLSVVVPSYNEEKRLPVMMDEALSYLEKRQKRDPAFTYEVIVVDDGSKDQTSKVAFKYCQKYGSDKVRVITLVKNRGKGGAIRMG
IFSSRGEKILMADADGATKFPDVEKLEKGLNDLQPWPLARYTKEGFLHLGALGTTTLLPDTRCLVDNSKSRLPQLLDCDKVKSSLYKRWNFIQNGAIMNKGTGRCLEVENRGLAGIDLILRSCTGQRWTIKNSIK

N-Truncated Protein (5UTR-3CDS) Sequences

C-Truncated Protein (5CDS-3UTR) Sequences

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Personalized Fusion Protein Sequence for ALG6_UBE2U

TCGA Kinase/DNA-binding Domain Mutated Fusion Protein Sequences

Num

Gene Group

Domain Loci

Fusion Protein ID

Fusion Gene Name

Partner

Mutated Residue in WT Protein

Seq. Length

Mutated Residue in Fusion Protein

CCLE Kinase/DNA-binding Domain Mutated Fusion Protein Sequences

Num

Gene Group

Domain Loci

Fusion Protein ID

Fusion Gene Name

Partner

Mutated Residue in WT Protein

Seq. Length

Mutated Residue in Fusion Protein

TCGA All Mutated Fusion Protein Sequences

Fusion Protein ID

Sample ID

Mutated Partner

AAchange in WT

Seq. Length

AAchange in Fusion

CCLE All Mutated Fusion Protein Sequences

Fusion Protein ID

Sample ID

Mutated Partner

AAchange in WT

Seq. Length

AAchange in Fusion

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Fusion Gene Exprssed Samples for ALG6_UBE2U

RNA-seq based fusion gene expressed samples.

Source	Study	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB		BRCA	TCGA-A7-A6VV-01A	ALG6	chr1	63836730	+	UBE2U	chr1	63836730	+
WashU		BRCA	TCGA-A7-A6VV-01A	ALG6	chr1	63836730	+	UBE2U	chr1	64707335	+
cBioPortal	BRCA_TCGA_PAN_CAN_ATLAS_2018	BRCA	TCGA-A7-A6VV-01	ALG6	chr1	63371059		UBE2U	chr1	64241652

DNA-seq based fusion gene expressed samples.

Source

Study

Disease

Sample

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

SV type

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Related Drugs for ALG6_UBE2U

PubMed Abstract Search With ['A-B' AND 'drug'], ['A::B' AND 'drug']
* For more details on the Studied, Reported, Approved Drugs targeting this fusion gene, Go to FusionPub.

PMID

Fusion Gene Name

Drug

Study Title

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status