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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:CYP17A1-ANXA2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: CYP17A1-ANXA2
	FusionPDB ID: 20998
	FusionGDB2.0 ID: 20998
		Hgene	Tgene
	Gene symbol	CYP17A1	ANXA2
	Gene ID	1586	302
	Gene name	cytochrome P450 family 17 subfamily A member 1	annexin A2
	Synonyms	CPT7\|CYP17\|P450C17\|S17AH	ANX2\|ANX2L4\|CAL1H\|HEL-S-270\|LIP2\|LPC2\|LPC2D\|P36\|PAP-IV
	Cytomap	10q24.32	15q22.2
	Type of gene	protein-coding	protein-coding
	Description	steroid 17-alpha-hydroxylase/17,20 lyase17-alpha-hydroxyprogesterone aldolaseCYPXVIIcytochrome P450 17A1cytochrome P450, family 17, subfamily A, polypeptide 1cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasiacytochro	annexin A2annexin IIannexin-2calpactin I heavy chaincalpactin I heavy polypeptidecalpactin-1 heavy chainchromobindin 8epididymis secretory protein Li 270epididymis secretory sperm binding proteinlipocortin IIplacental anticoagulant protein IVpr
	Modification date	20200313	20200313
	UniProtAcc	P05093	A6NMY6
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000369887, ENST00000489268,	ENST00000557937, ENST00000332680, ENST00000396024, ENST00000421017, ENST00000451270,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	7 X 6 X 3=126	33 X 12 X 13=5148
	# samples	7	39
	** MAII score	log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(39/5148*10)=-3.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: CYP17A1 [Title/Abstract] AND ANXA2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	CYP17A1(104591265)-ANXA2(60643450), # samples:1
Anticipated loss of major functional domain due to fusion event.	CYP17A1-ANXA2 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. CYP17A1-ANXA2 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
Hgene	CYP17A1	GO:0008202	steroid metabolic process	22266943
Hgene	CYP17A1	GO:0042446	hormone biosynthetic process	22266943
Hgene	CYP17A1	GO:0042448	progesterone metabolic process	22266943
Tgene	ANXA2	GO:0001921	positive regulation of receptor recycling	22848640
Tgene	ANXA2	GO:0031340	positive regulation of vesicle fusion	2138016
Tgene	ANXA2	GO:0032804	negative regulation of low-density lipoprotein particle receptor catabolic process	22848640
Tgene	ANXA2	GO:0036035	osteoclast development	7961821
Tgene	ANXA2	GO:1905581	positive regulation of low-density lipoprotein particle clearance	22848640
Tgene	ANXA2	GO:1905597	positive regulation of low-density lipoprotein particle receptor binding	22848640
Tgene	ANXA2	GO:1905602	positive regulation of receptor-mediated endocytosis involved in cholesterol transport	22848640

Fusion gene breakpoints across CYP17A1 (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 ANXA2 (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	ACC	TCGA-OR-A5J7-01A	CYP17A1	chr10	104591265	-	ANXA2	chr15	60643450	-

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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)
ENST00000369887	CYP17A1	chr10	104591265	-	ENST00000396024	ANXA2	chr15	60643450	-	2153	1415	115	1656	513
ENST00000369887	CYP17A1	chr10	104591265	-	ENST00000451270	ANXA2	chr15	60643450	-	1960	1415	115	1656	513
ENST00000369887	CYP17A1	chr10	104591265	-	ENST00000332680	ANXA2	chr15	60643450	-	1955	1415	115	1656	513
ENST00000369887	CYP17A1	chr10	104591265	-	ENST00000421017	ANXA2	chr15	60643450	-	1945	1415	115	1656	513

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
ENST00000369887	ENST00000396024	CYP17A1	chr10	104591265	-	ANXA2	chr15	60643450	-	0.001971106	0.99802893
ENST00000369887	ENST00000451270	CYP17A1	chr10	104591265	-	ANXA2	chr15	60643450	-	0.002966134	0.99703383
ENST00000369887	ENST00000332680	CYP17A1	chr10	104591265	-	ANXA2	chr15	60643450	-	0.003044676	0.9969553
ENST00000369887	ENST00000421017	CYP17A1	chr10	104591265	-	ANXA2	chr15	60643450	-	0.003231672	0.99676836

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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

>20998_20998_1_CYP17A1-ANXA2_CYP17A1_chr10_104591265_ENST00000369887_ANXA2_chr15_60643450_ENST00000332680_length(amino acids)=513AA_BP=433
MPQLFYSTAVYLACRHPATMWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKYGPIYSVRMGTK
TTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHN
GQSIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKIFPNKTLEKLKSHVKIRNDLLNKILENYK
EKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIFGAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRT
PTISDRNRLLLLEATIREVLRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPVQCIQNKPLYFADRLYD

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

>20998_20998_2_CYP17A1-ANXA2_CYP17A1_chr10_104591265_ENST00000369887_ANXA2_chr15_60643450_ENST00000396024_length(amino acids)=513AA_BP=433
MPQLFYSTAVYLACRHPATMWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKYGPIYSVRMGTK
TTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHN
GQSIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKIFPNKTLEKLKSHVKIRNDLLNKILENYK
EKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIFGAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRT
PTISDRNRLLLLEATIREVLRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPVQCIQNKPLYFADRLYD

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

>20998_20998_3_CYP17A1-ANXA2_CYP17A1_chr10_104591265_ENST00000369887_ANXA2_chr15_60643450_ENST00000421017_length(amino acids)=513AA_BP=433
MPQLFYSTAVYLACRHPATMWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKYGPIYSVRMGTK
TTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHN
GQSIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKIFPNKTLEKLKSHVKIRNDLLNKILENYK
EKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIFGAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRT
PTISDRNRLLLLEATIREVLRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPVQCIQNKPLYFADRLYD

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

>20998_20998_4_CYP17A1-ANXA2_CYP17A1_chr10_104591265_ENST00000369887_ANXA2_chr15_60643450_ENST00000451270_length(amino acids)=513AA_BP=433
MPQLFYSTAVYLACRHPATMWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKYGPIYSVRMGTK
TTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHN
GQSIDISFPVFVAVTNVISLICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKIFPNKTLEKLKSHVKIRNDLLNKILENYK
EKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIFGAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRT
PTISDRNRLLLLEATIREVLRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPVQCIQNKPLYFADRLYD

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

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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/chr10:104591265/chr15:60643450)
- 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
CYP17A1 P05093	ANXA2 A6NMY6
FUNCTION: A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol (PubMed:9452426, PubMed:25301938) (Probable). Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C19 steroids, dehydroepiandrosterone (DHEA) and androstenedione (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). Has 16-alpha hydroxylase activity. Catalyzes 16-alpha hydroxylation of 17-alpha hydroxy pregnenolone, followed by the cleavage of the C17-C20 bond to form 16-alpha-hydroxy DHEA. Also 16-alpha hydroxylates androgens, relevant for estriol synthesis (PubMed:27339894, PubMed:25301938). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:9452426, PubMed:27339894, PubMed:22266943, PubMed:25301938). {ECO:0000269\|PubMed:22266943, ECO:0000269\|PubMed:25301938, ECO:0000269\|PubMed:27339894, ECO:0000269\|PubMed:9452426, ECO:0000305\|PubMed:8027220}.	FUNCTION: Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response. {ECO:0000250}.

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

ANXA2

chr10:104591265

chr15:60643450

ENST00000396024

265_336

259.3333333333333

340.0

Repeat

Annexin 4

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000421017

265_336

259.3333333333333

340.0

Repeat

Annexin 4

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000451270

265_336

259.3333333333333

340.0

Repeat

Annexin 4

- 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

ANXA2

chr10:104591265

chr15:60643450

ENST00000332680

2_24

277.3333333333333

358.0

Region

S100A10-binding site

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000396024

2_24

259.3333333333333

340.0

Region

S100A10-binding site

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000421017

2_24

259.3333333333333

340.0

Region

S100A10-binding site

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000451270

2_24

259.3333333333333

340.0

Region

S100A10-binding site

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000332680

105_176

277.3333333333333

358.0

Repeat

Annexin 2

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000332680

189_261

277.3333333333333

358.0

Repeat

Annexin 3

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000332680

265_336

277.3333333333333

358.0

Repeat

Annexin 4

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000332680

33_104

277.3333333333333

358.0

Repeat

Annexin 1

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000396024

105_176

259.3333333333333

340.0

Repeat

Annexin 2

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000396024

189_261

259.3333333333333

340.0

Repeat

Annexin 3

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000396024

33_104

259.3333333333333

340.0

Repeat

Annexin 1

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000421017

105_176

259.3333333333333

340.0

Repeat

Annexin 2

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000421017

189_261

259.3333333333333

340.0

Repeat

Annexin 3

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000421017

33_104

259.3333333333333

340.0

Repeat

Annexin 1

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000451270

105_176

259.3333333333333

340.0

Repeat

Annexin 2

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000451270

189_261

259.3333333333333

340.0

Repeat

Annexin 3

Tgene

ANXA2

chr10:104591265

chr15:60643450

ENST00000451270

33_104

259.3333333333333

340.0

Repeat

Annexin 1

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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
CYP17A1
ANXA2

- 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 CYP17A1-ANXA2

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 CYP17A1-ANXA2

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