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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:BCAT2-AK1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: BCAT2-AK1
	FusionPDB ID: 9282
	FusionGDB2.0 ID: 9282
		Hgene	Tgene
	Gene symbol	BCAT2	AK1
	Gene ID	587	203
	Gene name	branched chain amino acid transaminase 2	adenylate kinase 1
	Synonyms	BCAM\|BCATM\|BCT2\|PP18	HTL-S-58j
	Cytomap	19q13.33	9q34.11
	Type of gene	protein-coding	protein-coding
	Description	branched-chain-amino-acid aminotransferase, mitochondrialbranched chain amino-acid transaminase 2, mitochondrialbranched chain aminotransferase 2, mitochondrialplacental protein 18	adenylate kinase isoenzyme 1ATP-AMP transphosphorylase 1ATP:AMP phosphotransferaseadenylate monophosphate kinaseepididymis secretory sperm binding proteinmyokinasetestis secretory sperm binding protein Li 58j
	Modification date	20200313	20200320
	UniProtAcc	O15382	P00568
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000402551, ENST00000601496, ENST00000316273, ENST00000545387, ENST00000598162, ENST00000599246, ENST00000597011,	ENST00000223836, ENST00000373156, ENST00000373176,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	10 X 9 X 9=810	3 X 2 X 3=18
	# samples	11	3
	** MAII score	log2(11/810*10)=-2.88041838424733 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: BCAT2 [Title/Abstract] AND AK1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	BCAT2(49314240)-AK1(130630791), # samples:2
Anticipated loss of major functional domain due to fusion event.	BCAT2-AK1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. BCAT2-AK1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. BCAT2-AK1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. BCAT2-AK1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

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
Tgene	AK1	GO:0006165	nucleoside diphosphate phosphorylation	23416111
Tgene	AK1	GO:0009142	nucleoside triphosphate biosynthetic process	23416111

Fusion gene breakpoints across BCAT2 (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 AK1 (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 Sample Information

Fusion gene information from FusionGDB2.0.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	THCA	TCGA-IM-A3ED	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000545387	BCAT2	chr19	49314240	-	ENST00000373176	AK1	chr9	130630791	-	1818	29	960	559	133
ENST00000545387	BCAT2	chr19	49314240	-	ENST00000373156	AK1	chr9	130630791	-	299	29	5	289	94
ENST00000545387	BCAT2	chr19	49314240	-	ENST00000223836	AK1	chr9	130630791	-	297	29	5	289	94
ENST00000316273	BCAT2	chr19	49314240	-	ENST00000373176	AK1	chr9	130630791	-	1826	37	968	567	133
ENST00000316273	BCAT2	chr19	49314240	-	ENST00000373156	AK1	chr9	130630791	-	307	37	13	297	94
ENST00000316273	BCAT2	chr19	49314240	-	ENST00000223836	AK1	chr9	130630791	-	305	37	13	297	94
ENST00000599246	BCAT2	chr19	49314240	-	ENST00000373176	AK1	chr9	130630791	-	1835	46	977	576	133
ENST00000599246	BCAT2	chr19	49314240	-	ENST00000373156	AK1	chr9	130630791	-	316	46	22	306	94
ENST00000599246	BCAT2	chr19	49314240	-	ENST00000223836	AK1	chr9	130630791	-	314	46	22	306	94
ENST00000598162	BCAT2	chr19	49314240	-	ENST00000373176	AK1	chr9	130630791	-	1833	44	975	574	133
ENST00000598162	BCAT2	chr19	49314240	-	ENST00000373156	AK1	chr9	130630791	-	314	44	20	304	94
ENST00000598162	BCAT2	chr19	49314240	-	ENST00000223836	AK1	chr9	130630791	-	312	44	20	304	94

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	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000545387	ENST00000373176	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-	0.9040109	0.09598913
ENST00000545387	ENST00000373156	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-	0.16643089	0.8335691
ENST00000545387	ENST00000223836	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-	0.16292875	0.8370713
ENST00000316273	ENST00000373176	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-	0.9285581	0.07144186
ENST00000316273	ENST00000373156	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-	0.12977558	0.87022436
ENST00000316273	ENST00000223836	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-	0.12804803	0.871952
ENST00000599246	ENST00000373176	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-	0.90919787	0.09080211
ENST00000599246	ENST00000373156	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-	0.1247803	0.8752197
ENST00000599246	ENST00000223836	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-	0.12257613	0.8774238
ENST00000598162	ENST00000373176	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-	0.8892345	0.11076548
ENST00000598162	ENST00000373156	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-	0.12780029	0.87219965
ENST00000598162	ENST00000223836	BCAT2	chr19	49314240	-	AK1	chr9	130630791	-	0.12539916	0.8746008

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>9282_9282_1_BCAT2-AK1_BCAT2_chr19_49314240_ENST00000316273_AK1_chr9_130630791_ENST00000223836_length(amino acids)=94AA_BP=7
MAAAALGQIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHL

--------------------------------------------------------------

>9282_9282_2_BCAT2-AK1_BCAT2_chr19_49314240_ENST00000316273_AK1_chr9_130630791_ENST00000373156_length(amino acids)=94AA_BP=7
MAAAALGQIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHL

--------------------------------------------------------------

>9282_9282_3_BCAT2-AK1_BCAT2_chr19_49314240_ENST00000316273_AK1_chr9_130630791_ENST00000373176_length(amino acids)=133AA_BP=
MTPHPPMPLRCPFQTLRASRVKEANSLPTGPAGVGRPNCPGSPTQTMTLLPVQSRPRQGPGMEHMLRAMGVRAKATEQDAEEPRLGPVLP

--------------------------------------------------------------

>9282_9282_4_BCAT2-AK1_BCAT2_chr19_49314240_ENST00000545387_AK1_chr9_130630791_ENST00000223836_length(amino acids)=94AA_BP=7
MAAAALGQIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHL

--------------------------------------------------------------

>9282_9282_5_BCAT2-AK1_BCAT2_chr19_49314240_ENST00000545387_AK1_chr9_130630791_ENST00000373156_length(amino acids)=94AA_BP=7
MAAAALGQIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHL

--------------------------------------------------------------

>9282_9282_6_BCAT2-AK1_BCAT2_chr19_49314240_ENST00000545387_AK1_chr9_130630791_ENST00000373176_length(amino acids)=133AA_BP=
MTPHPPMPLRCPFQTLRASRVKEANSLPTGPAGVGRPNCPGSPTQTMTLLPVQSRPRQGPGMEHMLRAMGVRAKATEQDAEEPRLGPVLP

--------------------------------------------------------------

>9282_9282_7_BCAT2-AK1_BCAT2_chr19_49314240_ENST00000598162_AK1_chr9_130630791_ENST00000223836_length(amino acids)=94AA_BP=7
MAAAALGQIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHL

--------------------------------------------------------------

>9282_9282_8_BCAT2-AK1_BCAT2_chr19_49314240_ENST00000598162_AK1_chr9_130630791_ENST00000373156_length(amino acids)=94AA_BP=7
MAAAALGQIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHL

--------------------------------------------------------------

>9282_9282_9_BCAT2-AK1_BCAT2_chr19_49314240_ENST00000598162_AK1_chr9_130630791_ENST00000373176_length(amino acids)=133AA_BP=
MTPHPPMPLRCPFQTLRASRVKEANSLPTGPAGVGRPNCPGSPTQTMTLLPVQSRPRQGPGMEHMLRAMGVRAKATEQDAEEPRLGPVLP

--------------------------------------------------------------

>9282_9282_10_BCAT2-AK1_BCAT2_chr19_49314240_ENST00000599246_AK1_chr9_130630791_ENST00000223836_length(amino acids)=94AA_BP=7
MAAAALGQIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHL

--------------------------------------------------------------

>9282_9282_11_BCAT2-AK1_BCAT2_chr19_49314240_ENST00000599246_AK1_chr9_130630791_ENST00000373156_length(amino acids)=94AA_BP=7
MAAAALGQIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHL

--------------------------------------------------------------

>9282_9282_12_BCAT2-AK1_BCAT2_chr19_49314240_ENST00000599246_AK1_chr9_130630791_ENST00000373176_length(amino acids)=133AA_BP=
MTPHPPMPLRCPFQTLRASRVKEANSLPTGPAGVGRPNCPGSPTQTMTLLPVQSRPRQGPGMEHMLRAMGVRAKATEQDAEEPRLGPVLP

--------------------------------------------------------------

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:49314240/chr9:130630791)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

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

Hgene	Tgene
BCAT2 O15382	AK1 P00568
FUNCTION: Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids.	FUNCTION: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. {ECO:0000255\|HAMAP-Rule:MF_03171, ECO:0000269\|PubMed:23416111}.

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.

- 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

AK1

chr19:49314240

chr9:130630791

ENST00000373156

131_141

108.0

195.0

Region

LID

Tgene

AK1

chr19:49314240

chr9:130630791

ENST00000373176

131_141

108.0

195.0

Region

LID

- 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

AK1

chr19:49314240

chr9:130630791

ENST00000373156

18_23

108.0

195.0

Nucleotide binding

ATP

Tgene

AK1

chr19:49314240

chr9:130630791

ENST00000373156

65_67

108.0

195.0

Nucleotide binding

AMP

Tgene

AK1

chr19:49314240

chr9:130630791

ENST00000373156

94_97

108.0

195.0

Nucleotide binding

AMP

Tgene

AK1

chr19:49314240

chr9:130630791

ENST00000373176

18_23

108.0

195.0

Nucleotide binding

ATP

Tgene

AK1

chr19:49314240

chr9:130630791

ENST00000373176

65_67

108.0

195.0

Nucleotide binding

AMP

Tgene

AK1

chr19:49314240

chr9:130630791

ENST00000373176

94_97

108.0

195.0

Nucleotide binding

AMP

Tgene

AK1

chr19:49314240

chr9:130630791

ENST00000373156

38_67

108.0

195.0

Region

NMP

Tgene

AK1

chr19:49314240

chr9:130630791

ENST00000373176

38_67

108.0

195.0

Region

NMP

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
BCAT2
AK1

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to BCAT2-AK1

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to BCAT2-AK1

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source