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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:APTX_GNE (FusionGDB2 ID:HG54840TG10020)

Fusion Gene Summary for APTX_GNE

Fusion gene summary

Fusion gene information	Fusion gene name: APTX_GNE
	Fusion gene ID: hg54840tg10020
		Hgene	Tgene
	Gene symbol	APTX	GNE
	Gene ID	54840	10020
	Gene name	aprataxin	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
	Synonyms	AOA\|AOA1\|AXA1\|EAOH\|EOAHA\|FHA-HIT	DMRV\|GLCNE\|IBM2\|NM\|THC12\|Uae1
	Cytomap	9p21.1	9p13.3
	Type of gene	protein-coding	protein-coding
	Description	aprataxinforkhead-associated domain histidine triad-like protein	bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinaseN-acylmannosamine kinaseUDP-GlcNAc-2-epimerase/ManAc kinaseUDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
	Modification date	20240305	20240407
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000379813, ENST00000309615, ENST00000379819, ENST00000379825, ENST00000397172, ENST00000476858, ENST00000379817, ENST00000436040, ENST00000463596, ENST00000468275, ENST00000473270,
Fusion gene scores	* DoF score	* DoF score (Degree of Frequency) = # partners X # break points X # disease types 12 X 14 X 11=1848	* DoF score (Degree of Frequency) = # partners X # break points X # disease types 4 X 10 X 7=280
	# samples	23	41
	** MAII score	** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score10) log2(23/184810)=-3.00625899047168 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(41/28010)=0.55019708256048 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: APTX [Title/Abstract] AND GNE [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	APTX(33001564)-GNE(36220017), # samples:3

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Fusion Gene Breakpoints for APTX_GNE

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
APTX	chr9	33001564	GNE	chr9	36220017
APTX	chr9	33001565	GNE	chr9	36220017
APTX	chr9	33001567	GNE	chr9	36220020

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 APTX_GNE

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
APTX-GNE	Promoter / Enhancer Hijacking M6		Promoter swap alters UDP-GlcNAc 2-epimerase/ManNAc kinase expression, boosting sialic acid synthesis and shielding tumor cells from immunity.		Sialic acid synthesis inhibitors; immunotherapy		Metastatic carcinomas

* 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
APTX-GNE	Promoter / Enhancer Hijacking M6		Promoter swap alters UDP-GlcNAc 2-epimerase/ManNAc kinase expression, boosting sialic acid synthesis and shielding tumor cells from immunity.		Sialic acid synthesis inhibitors; immunotherapy		Metastatic carcinomas

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	APTX	GO:0000012	single strand break repair	17519253

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Fusion Genomic Features for APTX_GNE

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)
APTX	chr9	33001564	-	GNE	chr9	36220017	-	1.32e-06	1.00e+00

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)
APTX	chr9	33001564	-	GNE	chr9	36220017	-	1.32e-06	1.00e+00

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 APTX_GNE

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
5UTR-3CDS	ENST00000379813	ENST00000377902	APTX	chr9	33001564	-	GNE	chr9	36220017	-
5UTR-3CDS	ENST00000379813	ENST00000396594	APTX	chr9	33001564	-	GNE	chr9	36220017	-
5UTR-3CDS	ENST00000379813	ENST00000447283	APTX	chr9	33001564	-	GNE	chr9	36220017	-
5UTR-3CDS	ENST00000379813	ENST00000539208	APTX	chr9	33001564	-	GNE	chr9	36220017	-
5UTR-3CDS	ENST00000379813	ENST00000539815	APTX	chr9	33001564	-	GNE	chr9	36220017	-
5UTR-3CDS	ENST00000379813	ENST00000543356	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000309615	ENST00000377902	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000309615	ENST00000396594	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000309615	ENST00000447283	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000309615	ENST00000539208	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000309615	ENST00000539815	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000309615	ENST00000543356	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000379819	ENST00000377902	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000379819	ENST00000396594	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000379819	ENST00000447283	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000379819	ENST00000539208	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000379819	ENST00000539815	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000379819	ENST00000543356	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000379825	ENST00000377902	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000379825	ENST00000396594	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000379825	ENST00000447283	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000379825	ENST00000539208	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000379825	ENST00000539815	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000379825	ENST00000543356	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000397172	ENST00000377902	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000397172	ENST00000396594	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000397172	ENST00000447283	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000397172	ENST00000539208	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000397172	ENST00000539815	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000397172	ENST00000543356	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000476858	ENST00000377902	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000476858	ENST00000396594	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000476858	ENST00000447283	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000476858	ENST00000539208	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000476858	ENST00000539815	APTX	chr9	33001564	-	GNE	chr9	36220017	-
Frame-shift	ENST00000476858	ENST00000543356	APTX	chr9	33001564	-	GNE	chr9	36220017	-

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)

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)
ENST00000379813	ENST00000377902	APTX	chr9	33001564	GNE	chr9	36220017	0	167
ENST00000379813	ENST00000377902	APTX	chr9	33001564	GNE	chr9	36220017	0	71
ENST00000379813	ENST00000396594	APTX	chr9	33001564	GNE	chr9	36220017	0	219
ENST00000379813	ENST00000396594	APTX	chr9	33001564	GNE	chr9	36220017	0	988
ENST00000379813	ENST00000447283	APTX	chr9	33001564	GNE	chr9	36220017	0	167
ENST00000379813	ENST00000539208	APTX	chr9	33001564	GNE	chr9	36220017	0	167
ENST00000379813	ENST00000539815	APTX	chr9	33001564	GNE	chr9	36220017	0	167
ENST00000379813	ENST00000543356	APTX	chr9	33001564	GNE	chr9	36220017	0	167

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

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
ENST00000379813	ENST00000377902	APTX	chr9	33001564	GNE	chr9	36220017	0.00e+00	3.74e-02
ENST00000379813	ENST00000396594	APTX	chr9	33001564	GNE	chr9	36220017	0.00e+00	4.15e-01
ENST00000379813	ENST00000447283	APTX	chr9	33001564	GNE	chr9	36220017	0.00e+00	3.53e-02
ENST00000379813	ENST00000539208	APTX	chr9	33001564	GNE	chr9	36220017	0.00e+00	3.00e-02
ENST00000379813	ENST00000539815	APTX	chr9	33001564	GNE	chr9	36220017	0.00e+00	1.83e-01
ENST00000379813	ENST00000543356	APTX	chr9	33001564	GNE	chr9	36220017	0.00e+00	6.82e-02
ENST00000379813	ENST00000396594	APTX	chr9	33001564	GNE	chr9	36220017	0.00e+00	4.15e-01
ENST00000379813	ENST00000539815	APTX	chr9	33001564	GNE	chr9	36220017	0.00e+00	1.83e-01
ENST00000379813	ENST00000543356	APTX	chr9	33001564	GNE	chr9	36220017	0.00e+00	6.82e-02
ENST00000379813	ENST00000539208	APTX	chr9	33001564	GNE	chr9	36220017	0.00e+00	3.00e-02
ENST00000379813	ENST00000447283	APTX	chr9	33001564	GNE	chr9	36220017	0.00e+00	3.53e-02
ENST00000379813	ENST00000377902	APTX	chr9	33001564	GNE	chr9	36220017	0.00e+00	3.74e-02

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

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Fusion Protein Retained/Non-Retained Functional Features for APTX_GNE

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

- 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

- 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 APTX_GNE

In-frame Fusion Transcript Sequences.

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

>APTX_GNE_ENST00000379813_ENST00000377902_33001564_36220017 length=711nt 
 Breakpoint=0nt
GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGG
CCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG
CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGG
ATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTT
AGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTA

>APTX_GNE_ENST00000379813_ENST00000396594_33001564_36220017 length=3460nt 
 Breakpoint=0nt
GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGG
CCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG
CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGG
ATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTT
AGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTATTTTTGTAGATGCTATTCTTTCTGATGTCTTCTTACTAG
GGGTCATTTTAGCTCAAACCCTGTAAGTTACAGTCACAATTTTCTGTGCCAAAGCAGCTACAATAATAGAGAGGAAGCCTTCTTAGAACTCTGCTTACTAATGTATTAATACCACTGAGACCTTCAGGCCTTGCCTGGGATATCACTTCA
TCCTGAAGTTTGCATTAATAATCCTTCCAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCGCCCTGGCTAACATGGTGAAACATGGTGAAACCCCGT
CTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCAGGGAGGCGGAGCTGGCAGTGAACTGAGACCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAA
GACTCCATCTCAAAAATAATAATAATAAATAATAATAATAATAATAATAATAATAATAATCCTTCCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTCAGGAGTTCAAGA
CCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGA
TCATGCCACTGCACTCCACCCTGGGTGACAGAGCGAGACTCCGTCTACACACACACACACACACACACACACATCCTTCCTCCTCTAACCCCAAACTAAGATCACAGAAGGTGATCCAGTCAGAGAACAGAGGGAAATCTTACCAGGAAG
GGCTTAAGTACACTTTTTTTTAAAACAGCTTTATTGTTTTTAAAGCCTACAATTTGATAAGCCTTGACATATGTATACCTGTGAAAGCATCACCACAATCAAGACACTGGACATATCTATCACTCCCCCATCTCAGATATCCCCCCTAAT
CCTGGATACCATTTGTTGAAAGATGTTATTACTCTAGCTGAACTTACAAGAGACTTTAGACCAGGGATCTAAATTACAGTGGCCTTAGTGACCTTGTCCTTATCTTCTTAGGACAGCTGAGAAGCCACTGGGACTTAGAGCCTTTAAAAG
GAGATTAACTGTCCCAAAAGGATCTTTGCTACTGACCAGCAGACACTTCTTCCTTCAGTAGCCTTTCATACTGTGTTGAGTAACACCCTAGGGTGTCCATTAAAGTTTTGAGTTTTACCTAGAGCCCAGAGCCATGAATCAGGATTCTGT
CTACATGATTCGTGTTTTCATTGGTGTCAAAATACAAAAGCCAAAGTTCTGGCTATGAATTGTTAACTTGGAAGAAATACTAACTGCCACCACTTATTAAGTGCCTACTGTGTGCCAGGCTCTGAACTAGGTGCTTCATATACATTATCC
TAAATTATCTCAACATATGAGGTAGGTGTTTTAATTTTTATTTTATAGAACTTGGTGTGTTTGACTGTTAAGCTATGGGGCTAGAGAGAGGGTTTGATCCCAGGTCCCTCTGTGCTTTTGCTGCTGAGCCACACAACCTCTCATTTCAAA
AACACTTTCAAAATGCTAACATATTCTAATTCACTCTAGGCCACCAAAAACTTTAATACTAATATCTGATTTGTAAATGACTTAATGTATCCTTGACCCTATCAGCTGAATTTAATGAAATATTCCTCTCTGCTGTGAAATTTTACCAGT
ATAGTATTTGGTCTAGTGACAGGTGTTCTATTTTTTTGAGACGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATGCAACCTCTGCCCCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAG
GCACATGCACCACGCCCGGCTGATTTTTTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCATCAC
ACCTGGCCCTAGTGACAGGTTTTTATGGGTACTTTTAGATGATCTAAGAAATCATGTGCATATATCTTTCAGATTTCTATTTTGGGAAAATGAAGGTTTCTACAACATATTGTTTCAGTGTTCAAATAAACTGAAGGACTCAACATTACA
TTTGAACTATATCCTTCCTAGTGGGTTAGTGTGAAAAAGAGTTTGGCTGATTCCTAAAACTCTGCCAGCCCTGCAGTAATCTCCAGGGCCTGGTTATTGTTCAGACATTCCATGGTGATTCCTGGGAAGGAAGCTTGGCTGCTCAGTTTC
TGAGTCTGGGGTGAGATAATGTTCTGGGAAGGGACATCTGTTCTTTGGTGTAATCTCTCATGGTGAAATCTGCTCTGTACATCAGACAATTGCATTGCTACCAAGTTTCATACCAAATATTTGAAAGGATGGTATTGAATCTAAAACCAA
ATATTAGTTTTTATTAAACTCATGGGAAGGCTAATATATTCCAACGTAAATTATTACATATGGTTAAGTAATTGCATGTTAATTTATTTTAATGTAAATATTTTTGTTACTGTTCTGAGCCAAATTCTAAAGAAAAAATAAATACATTTC
CTTGTTGAAA

>APTX_GNE_ENST00000379813_ENST00000447283_33001564_36220017 length=712nt 
 Breakpoint=0nt
GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGG
CCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG
CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGG
ATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTT
AGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTAT

>APTX_GNE_ENST00000379813_ENST00000539208_33001564_36220017 length=749nt 
 Breakpoint=0nt
GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGG
CCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG
CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGG
ATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTT
AGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTATTTTTGTAGATGCTATTCTTTCTGATGTCTTCTTACTA

>APTX_GNE_ENST00000379813_ENST00000539815_33001564_36220017 length=1983nt 
 Breakpoint=0nt
GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGG
CCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG
CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGG
ATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTT
AGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTATTTTTGTAGATGCTATTCTTTCTGATGTCTTCTTACTAG
GGGTCATTTTAGCTCAAACCCTGTAAGTTACAGTCACAATTTTCTGTGCCAAAGCAGCTACAATAATAGAGAGGAAGCCTTCTTAGAACTCTGCTTACTAATGTATTAATACCACTGAGACCTTCAGGCCTTGCCTGGGATATCACTTCA
TCCTGAAGTTTGCATTAATAATCCTTCCAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCGCCCTGGCTAACATGGTGAAACATGGTGAAACCCCGT
CTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCCAGGCTGGAGTGCAGTGGCTCAATGCAACCTCTGCCCCCCAAGTTCAAGTGATTCTCCTGCCTC
AGCCTCTTGAGTAGCTGGGATTACAGGCACATGCACCACGCCCGGCTGATTTTTTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCTGCCTCCCAAAGTG
CTGGGATTACAGGTGTAAGCCATCACACCTGGCCCTAGTGACAGGTTTTTATGGGTACTTTTAGATGATCTAAGAAATCATGTGCATATATCTTTCAGATTTCTATTTTGGGAAAATGAAGGTTTCTACAACATATTGTTTCAGTGTTCA
AATAAACTGAAGGACTCAACATTACATTTGAACTATATCCTTCCTAGTGGGTTAGTGTGAAAAAGAGTTTGGCTGATTCCTAAAACTCTGCCAGCCCTGCAGTAATCTCCAGGGCCTGGTTATTGTTCAGACATTCCATGGTGATTCCTG
GGAAGGAAGCTTGGCTGCTCAGTTTCTGAGTCTGGGGTGAGATAATGTTCTGGGAAGGGACATCTGTTCTTTGGTGTAATCTCTCATGGTGAAATCTGCTCTGTACATCAGACAATTGCATTGCTACCAAGTTTCATACCAAATATTTGA
AAGGATGGTATTGAATCTAAAACCAAATATTAGTTTTTATTAAACTCATGGGAAGGCTAATATATTCCAACGTAAATTATTACATATGGTTAAGTAATTGCATGTTAATTTATTTTAATGTAAATATTTTTGTTACTGTTCTGAGCCAAA
TTCTAAAGAAAAAATAAATACATTTCCTTGTTG

>APTX_GNE_ENST00000379813_ENST00000543356_33001564_36220017 length=958nt 
 Breakpoint=0nt
GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGG
CCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG
CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGG
ATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTT
AGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTATTTTTGTAGATGCTATTCTTTCTGATGTCTTCTTACTAG
GGGTCATTTTAGCTCAAACCCTGTAAGTTACAGTCACAATTTTCTGTGCCAAAGCAGCTACAATAATAGAGAGGAAGCCTTCTTAGAACTCTGCTTACTAATGTATTAATACCACTGAGACCTTCAGGCCTTGCCTGGGATATCACTTCA
TCCTGAAGTTTGCATTAATAATCCTTCCAGGCCGGGCACAGTGGCTCACGCCTGTAAT

>APTX_GNE_ENST00000379813_ENST00000396594_33001564_36220017 length=3460nt 
 Breakpoint=0nt
GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGG
CCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG
CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGG
ATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTT
AGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTATTTTTGTAGATGCTATTCTTTCTGATGTCTTCTTACTAG
GGGTCATTTTAGCTCAAACCCTGTAAGTTACAGTCACAATTTTCTGTGCCAAAGCAGCTACAATAATAGAGAGGAAGCCTTCTTAGAACTCTGCTTACTAATGTATTAATACCACTGAGACCTTCAGGCCTTGCCTGGGATATCACTTCA
TCCTGAAGTTTGCATTAATAATCCTTCCAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCGCCCTGGCTAACATGGTGAAACATGGTGAAACCCCGT
CTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCAGGGAGGCGGAGCTGGCAGTGAACTGAGACCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAA
GACTCCATCTCAAAAATAATAATAATAAATAATAATAATAATAATAATAATAATAATAATCCTTCCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTCAGGAGTTCAAGA
CCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGA
TCATGCCACTGCACTCCACCCTGGGTGACAGAGCGAGACTCCGTCTACACACACACACACACACACACACACATCCTTCCTCCTCTAACCCCAAACTAAGATCACAGAAGGTGATCCAGTCAGAGAACAGAGGGAAATCTTACCAGGAAG
GGCTTAAGTACACTTTTTTTTAAAACAGCTTTATTGTTTTTAAAGCCTACAATTTGATAAGCCTTGACATATGTATACCTGTGAAAGCATCACCACAATCAAGACACTGGACATATCTATCACTCCCCCATCTCAGATATCCCCCCTAAT
CCTGGATACCATTTGTTGAAAGATGTTATTACTCTAGCTGAACTTACAAGAGACTTTAGACCAGGGATCTAAATTACAGTGGCCTTAGTGACCTTGTCCTTATCTTCTTAGGACAGCTGAGAAGCCACTGGGACTTAGAGCCTTTAAAAG
GAGATTAACTGTCCCAAAAGGATCTTTGCTACTGACCAGCAGACACTTCTTCCTTCAGTAGCCTTTCATACTGTGTTGAGTAACACCCTAGGGTGTCCATTAAAGTTTTGAGTTTTACCTAGAGCCCAGAGCCATGAATCAGGATTCTGT
CTACATGATTCGTGTTTTCATTGGTGTCAAAATACAAAAGCCAAAGTTCTGGCTATGAATTGTTAACTTGGAAGAAATACTAACTGCCACCACTTATTAAGTGCCTACTGTGTGCCAGGCTCTGAACTAGGTGCTTCATATACATTATCC
TAAATTATCTCAACATATGAGGTAGGTGTTTTAATTTTTATTTTATAGAACTTGGTGTGTTTGACTGTTAAGCTATGGGGCTAGAGAGAGGGTTTGATCCCAGGTCCCTCTGTGCTTTTGCTGCTGAGCCACACAACCTCTCATTTCAAA
AACACTTTCAAAATGCTAACATATTCTAATTCACTCTAGGCCACCAAAAACTTTAATACTAATATCTGATTTGTAAATGACTTAATGTATCCTTGACCCTATCAGCTGAATTTAATGAAATATTCCTCTCTGCTGTGAAATTTTACCAGT
ATAGTATTTGGTCTAGTGACAGGTGTTCTATTTTTTTGAGACGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATGCAACCTCTGCCCCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAG
GCACATGCACCACGCCCGGCTGATTTTTTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCATCAC
ACCTGGCCCTAGTGACAGGTTTTTATGGGTACTTTTAGATGATCTAAGAAATCATGTGCATATATCTTTCAGATTTCTATTTTGGGAAAATGAAGGTTTCTACAACATATTGTTTCAGTGTTCAAATAAACTGAAGGACTCAACATTACA
TTTGAACTATATCCTTCCTAGTGGGTTAGTGTGAAAAAGAGTTTGGCTGATTCCTAAAACTCTGCCAGCCCTGCAGTAATCTCCAGGGCCTGGTTATTGTTCAGACATTCCATGGTGATTCCTGGGAAGGAAGCTTGGCTGCTCAGTTTC
TGAGTCTGGGGTGAGATAATGTTCTGGGAAGGGACATCTGTTCTTTGGTGTAATCTCTCATGGTGAAATCTGCTCTGTACATCAGACAATTGCATTGCTACCAAGTTTCATACCAAATATTTGAAAGGATGGTATTGAATCTAAAACCAA
ATATTAGTTTTTATTAAACTCATGGGAAGGCTAATATATTCCAACGTAAATTATTACATATGGTTAAGTAATTGCATGTTAATTTATTTTAATGTAAATATTTTTGTTACTGTTCTGAGCCAAATTCTAAAGAAAAAATAAATACATTTC
CTTGTTGAAA

>APTX_GNE_ENST00000379813_ENST00000539815_33001564_36220017 length=1983nt 
 Breakpoint=0nt
GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGG
CCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG
CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGG
ATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTT
AGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTATTTTTGTAGATGCTATTCTTTCTGATGTCTTCTTACTAG
GGGTCATTTTAGCTCAAACCCTGTAAGTTACAGTCACAATTTTCTGTGCCAAAGCAGCTACAATAATAGAGAGGAAGCCTTCTTAGAACTCTGCTTACTAATGTATTAATACCACTGAGACCTTCAGGCCTTGCCTGGGATATCACTTCA
TCCTGAAGTTTGCATTAATAATCCTTCCAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCGCCCTGGCTAACATGGTGAAACATGGTGAAACCCCGT
CTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCCAGGCTGGAGTGCAGTGGCTCAATGCAACCTCTGCCCCCCAAGTTCAAGTGATTCTCCTGCCTC
AGCCTCTTGAGTAGCTGGGATTACAGGCACATGCACCACGCCCGGCTGATTTTTTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCTGCCTCCCAAAGTG
CTGGGATTACAGGTGTAAGCCATCACACCTGGCCCTAGTGACAGGTTTTTATGGGTACTTTTAGATGATCTAAGAAATCATGTGCATATATCTTTCAGATTTCTATTTTGGGAAAATGAAGGTTTCTACAACATATTGTTTCAGTGTTCA
AATAAACTGAAGGACTCAACATTACATTTGAACTATATCCTTCCTAGTGGGTTAGTGTGAAAAAGAGTTTGGCTGATTCCTAAAACTCTGCCAGCCCTGCAGTAATCTCCAGGGCCTGGTTATTGTTCAGACATTCCATGGTGATTCCTG
GGAAGGAAGCTTGGCTGCTCAGTTTCTGAGTCTGGGGTGAGATAATGTTCTGGGAAGGGACATCTGTTCTTTGGTGTAATCTCTCATGGTGAAATCTGCTCTGTACATCAGACAATTGCATTGCTACCAAGTTTCATACCAAATATTTGA
AAGGATGGTATTGAATCTAAAACCAAATATTAGTTTTTATTAAACTCATGGGAAGGCTAATATATTCCAACGTAAATTATTACATATGGTTAAGTAATTGCATGTTAATTTATTTTAATGTAAATATTTTTGTTACTGTTCTGAGCCAAA
TTCTAAAGAAAAAATAAATACATTTCCTTGTTG

>APTX_GNE_ENST00000379813_ENST00000543356_33001564_36220017 length=958nt 
 Breakpoint=0nt
GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGG
CCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG
CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGG
ATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTT
AGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTATTTTTGTAGATGCTATTCTTTCTGATGTCTTCTTACTAG
GGGTCATTTTAGCTCAAACCCTGTAAGTTACAGTCACAATTTTCTGTGCCAAAGCAGCTACAATAATAGAGAGGAAGCCTTCTTAGAACTCTGCTTACTAATGTATTAATACCACTGAGACCTTCAGGCCTTGCCTGGGATATCACTTCA
TCCTGAAGTTTGCATTAATAATCCTTCCAGGCCGGGCACAGTGGCTCACGCCTGTAAT

>APTX_GNE_ENST00000379813_ENST00000539208_33001564_36220017 length=749nt 
 Breakpoint=0nt
GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGG
CCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG
CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGG
ATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTT
AGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTATTTTTGTAGATGCTATTCTTTCTGATGTCTTCTTACTA

>APTX_GNE_ENST00000379813_ENST00000447283_33001564_36220017 length=712nt 
 Breakpoint=0nt
GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGG
CCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG
CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGG
ATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTT
AGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTAT

>APTX_GNE_ENST00000379813_ENST00000377902_33001564_36220017 length=711nt 
 Breakpoint=0nt
GAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGG
CCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG
CTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGG
ATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAGACCTCCAGGAACAGACATGGACCTTCTCTCCAGAGCTCCTGAGTGGAATCAAGTTCTTGTCTTT
AGGATGACCGTTTCTTAACAATCAAATCTGGTATTGAACTGCAGGTGACTTTGGCAGAGAAATGTTTTCACTTTTGGTCTCCTCTTCCAGAGTCACCTTTCCCCACTCCTA

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

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Fusion Protein Sequence for APTX_GNE

In-frame Fusion Protein Sequences.

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

>APTX_GNE_ENST00000379813_ENST00000377902_33001564_36220017 length=167nt
MIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPA
LLGAASMVLDYTTRRIY

>APTX_GNE_ENST00000379813_ENST00000377902_33001564_36220017 length=71nt
MEGFQSPGNGEPHIPSLPNLLIFPENLLQFAHCFSEVTRESLMTFLVVGICPDNFCKPPFPQQAMPLKITQ

>APTX_GNE_ENST00000379813_ENST00000396594_33001564_36220017 length=219nt
MEMLADQPRTTKYHSVILQNKESLTDKVILDVGCGTGIISLFCAHYARPRAVYAVEASEMAQHTGQLVLQNGFADIITVYQQKVEDVVLPEKVDVLVSEWMGTCLLTLRGELRFDIRKAGTLHGFTAWFSVHFQSLQEGQPPQVLSTGPF
HPTTHWKQTLFMMDDPVPVHTGDVVTGSVVLQRNPVWRRHMSVALSWAVTSRQDPTSQKVGEKVFPIWR

>APTX_GNE_ENST00000379813_ENST00000396594_33001564_36220017 length=988nt
MEPALEGTGKEGKKASSRKRTLAEPPAKGLLQPVKLSRAELYKEPTNEELNRLRETEILFHSSLLRLQVEELLKEVRLSEKKKDRIDAFLREVNQRVVRVPSVPETELTDQAWLPAGVRVPLHQVPYAVKGCFRFLPPAQVTVVGSYLLG
TCIRPDINVDVALTMPREILQDKDGLNQRYFRKRALYLAHLAHHLAQDPLFGSVCFSYTNGCHLKPSLLLRPRGKDERLVTVRLHPCPPPDFFRPCRLLPTKNNVRSAWYRGQSPAGDGSPEPPTPRYNTWVLQDTVLESHLQLLSTILS
SAQGLKDGVALLKVWLRQRELDKGQGGFTGFLVSMLVVFLVSTRKIHTTMSGYQVLRSVLQFLATTDLTVNGISLCLSSDPSLPALADFHQAFSVVFLDSSGHLNLCADVTASTYHQVQHEARLSMMLLDSRADDGFHLLLMTPKPMIRA
FDHVLHLRPLSRLQAACHRLKLWPELQDNGGDYVSAALGPLTTLLEQGLGARLNLLAHSRPPVPEWDISQDPPKHKDSGTLTLGLLLRPEGLTSVLELGPEADQPEAAKFRQFWGSRSELRRFQDGAIREAVVWEAASMSQKRLIPHQVV
THLLALHADIPETCVHYVGGPLDALIQGLKETSSTGEEALVAAVRCYDDLSRLLWGLEGLPLTVSAVQGAHPVLRYTEVFPPTPVRPAFSFYETLRERSSLLPRLDKPCPAYVEPMTVVCHLEGSGQWPQDAEAVQRVRAAFQLRLAELL
TQQHGLQCRATATHTDVLKDGFVFRIRVAYQREPQILKEVQSPEGMISLRDTAASLRLERDTRQLPLLTSALHGLQQQHPAFSGVARLAKRWVRAQLLGEGFADESLDLVAAALFLHPEPFTPPSSPQVGFLRFLFLVSTFDWKNNPLFV
NLNNELTVEEQVEIRSGFLAARAQLPVMVIVTPQDRKNSVWTQDGPSAQILQQLVVLAAEALPMLEKQLMDPRGPGDIRWDPAKMWPF

>APTX_GNE_ENST00000379813_ENST00000447283_33001564_36220017 length=167nt
MIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPA
LLGAASMVLDYTTRRIY

>APTX_GNE_ENST00000379813_ENST00000447283_33001564_36220017 length=167nt
MIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPA
LLGAASMVLDYTTRRIY

>APTX_GNE_ENST00000379813_ENST00000539208_33001564_36220017 length=167nt
MIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPA
LLGAASMVLDYTTRRIY

>APTX_GNE_ENST00000379813_ENST00000539208_33001564_36220017 length=167nt
MIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPA
LLGAASMVLDYTTRRIY

>APTX_GNE_ENST00000379813_ENST00000539815_33001564_36220017 length=167nt
MIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPA
LLGAASMVLDYTTRRIY

>APTX_GNE_ENST00000379813_ENST00000539815_33001564_36220017 length=167nt
MIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPA
LLGAASMVLDYTTRRIY

>APTX_GNE_ENST00000379813_ENST00000543356_33001564_36220017 length=167nt
MIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPA
LLGAASMVLDYTTRRIY

>APTX_GNE_ENST00000379813_ENST00000543356_33001564_36220017 length=167nt
MIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPA
LLGAASMVLDYTTRRIY

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

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Personalized Fusion Protein Sequence for APTX_GNE

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 APTX_GNE

RNA-seq based fusion gene expressed samples.

Source	Study	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB		BRCA	TCGA-E2-A15H-01A	APTX	chr9	33001564	-	GNE	chr9	36220017	-
ChimerDB		BRCA	TCGA-E2-A15H-01A	APTX	chr9	33001564	-	GNE	chr9	36220017	-
ChimerDB		BRCA	TCGA-E2-A15H	APTX	chr9	33001564	-	GNE	chr9	36220017	-
TCGAfusionPortal		BRCA	TCGA-E2-A15H-01A	APTX	chr9	33001564	-	GNE	chr9	36220017	-
WashU		BRCA	TCGA-E2-A15H-01A	APTX	chr9	33001565	-	GNE	chr9	36220017	-
cBioPortal	BRCA_TCGA_PAN_CAN_ATLAS_2018	BRCA	TCGA-E2-A15H-01	APTX	chr9	33001567		GNE	chr9	36220020

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 APTX_GNE

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