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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:FBXL17-SPINK14 (FusionGDB2 ID:29605)

Fusion Gene Summary for FBXL17-SPINK14

Fusion gene summary

Fusion gene information	Fusion gene name: FBXL17-SPINK14
	Fusion gene ID: 29605
		Hgene	Tgene
	Gene symbol	FBXL17	SPINK14
	Gene ID	64839	408187
	Gene name	F-box and leucine rich repeat protein 17	serine peptidase inhibitor Kazal type 14 (putative)
	Synonyms	FBXO13\|Fbl17\|Fbx13	SPINK5L2
	Cytomap	5q21.3	5q32
	Type of gene	protein-coding	protein-coding
	Description	F-box/LRR-repeat protein 17F-box only protein 13	serine protease inhibitor Kazal-type 14Kazal type serine protease inhibitor 5-like 2
	Modification date	20200313	20200313
	UniProtAcc	Q9UF56	.
	Ensembl transtripts involved in fusion gene	ENST00000359660, ENST00000496714, ENST00000542267,	ENST00000562793, ENST00000356972,
Fusion gene scores	* DoF score	6 X 6 X 3=108	2 X 2 X 2=8
	# samples	6	2
	** MAII score	log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(2/8*10)=1.32192809488736
Context	PubMed: FBXL17 [Title/Abstract] AND SPINK14 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	FBXL17(107684100)-SPINK14(147553797), # samples:2
Anticipated loss of major functional domain due to fusion event.	FBXL17-SPINK14 seems lost the major protein functional domain in Hgene 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)

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	FBXL17	GO:0000209	protein polyubiquitination	27234298
Hgene	FBXL17	GO:0006515	protein quality control for misfolded or incompletely synthesized proteins	30190310
Hgene	FBXL17	GO:0016567	protein ubiquitination	24035498\|30190310
Hgene	FBXL17	GO:0031146	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	24035498\|27234298
Hgene	FBXL17	GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	30190310

Fusion gene breakpoints across FBXL17 (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 SPINK14 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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	LIHC	TCGA-ZP-A9D4-01A	FBXL17	chr5	107684100	-	SPINK14	chr5	147553797	+

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Fusion Gene ORF analysis for FBXL17-SPINK14

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-intron	ENST00000359660	ENST00000562793	FBXL17	chr5	107684100	-	SPINK14	chr5	147553797	+
5CDS-intron	ENST00000496714	ENST00000562793	FBXL17	chr5	107684100	-	SPINK14	chr5	147553797	+
5CDS-intron	ENST00000542267	ENST00000562793	FBXL17	chr5	107684100	-	SPINK14	chr5	147553797	+
Frame-shift	ENST00000359660	ENST00000356972	FBXL17	chr5	107684100	-	SPINK14	chr5	147553797	+
In-frame	ENST00000496714	ENST00000356972	FBXL17	chr5	107684100	-	SPINK14	chr5	147553797	+
In-frame	ENST00000542267	ENST00000356972	FBXL17	chr5	107684100	-	SPINK14	chr5	147553797	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

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)

ENST00000542267

FBXL17

chr5

107684100

ENST00000356972

SPINK14

chr5

147553797

2096

1913

191

2095

635

ENST00000496714

FBXL17

chr5

107684100

ENST00000356972

SPINK14

chr5

147553797

697

514

696

228

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
ENST00000542267	ENST00000356972	FBXL17	chr5	107684100	-	SPINK14	chr5	147553797	+	0.08371271	0.91628724
ENST00000496714	ENST00000356972	FBXL17	chr5	107684100	-	SPINK14	chr5	147553797	+	0.003479733	0.9965203

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Fusion Genomic Features for FBXL17-SPINK14

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). 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)
FBXL17	chr5	107684099	-	SPINK14	chr5	147553796	+	0.00247371	0.99752635
FBXL17	chr5	107684099	-	SPINK14	chr5	147553796	+	0.00247371	0.99752635

Distribution 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.

Distribution 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 FBXL17-SPINK14

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:107684100/chr5:147553797)
- 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
FBXL17 Q9UF56	.
FUNCTION: Substrate-recognition component of the SCF(FBXL17) E3 ubiquitin ligase complex, a key component of a quality control pathway required to ensure functional dimerization of BTB domain-containing proteins (dimerization quality control, DQC) (PubMed:30190310). FBXL17 specifically recognizes and binds a conserved degron of non-consecutive residues present at the interface of BTB dimers of aberrant composition: aberrant BTB dimer are then ubiquitinated by the SCF(FBXL17) complex and degraded by the proteaseome (PubMed:30190310). The ability of the SCF(FBXL17) complex to eliminate compromised BTB dimers is required for the differentiation and survival of neural crest and neuronal cells (By similarity). The SCF(FBXL17) complex mediates ubiquitination and degradation of BACH1 (PubMed:24035498, PubMed:30190310). The SCF(FBXL17) complex is also involved in the regulation of the hedgehog/smoothened (Hh) signaling pathway by mediating the ubiquitination and degradation of SUFU, allowing the release of GLI1 from SUFU for proper Hh signal transduction (PubMed:27234298). The SCF(FBXL17) complex mediates ubiquitination and degradation of PRMT1 (By similarity). {ECO:0000250\|UniProtKB:B1H1X1, ECO:0000250\|UniProtKB:Q9QZN1, ECO:0000269\|PubMed:24035498, ECO:0000269\|PubMed:27234298, ECO:0000269\|PubMed:30190310}.	FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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.

- In-frame and 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

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000359660

25_28

104

304.0

Compositional bias

Note=Poly-Arg

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000359660

29_86

104

304.0

Compositional bias

Note=Pro-rich

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000496714

25_28

104

315.0

Compositional bias

Note=Poly-Arg

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000496714

29_86

104

315.0

Compositional bias

Note=Pro-rich

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000542267

216_236

502

702.0

Compositional bias

Note=Gly-rich

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000542267

25_28

502

702.0

Compositional bias

Note=Poly-Arg

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000542267

29_86

502

702.0

Compositional bias

Note=Pro-rich

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000542267

90_151

502

702.0

Compositional bias

Note=Ala-rich

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000542267

318_365

502

702.0

Domain

F-box

Tgene

SPINK14

chr5:107684100

chr5:147553797

ENST00000356972

34_97

98.0

Domain

Kazal-like

- 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

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000359660

216_236

104

304.0

Compositional bias

Note=Gly-rich

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000359660

90_151

104

304.0

Compositional bias

Note=Ala-rich

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000496714

216_236

104

315.0

Compositional bias

Note=Gly-rich

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000496714

90_151

104

315.0

Compositional bias

Note=Ala-rich

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000359660

318_365

104

304.0

Domain

F-box

Hgene

FBXL17

chr5:107684100

chr5:147553797

ENST00000496714

318_365

104

315.0

Domain

F-box

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Fusion Gene Sequence for FBXL17-SPINK14

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.

>29605_29605_1_FBXL17-SPINK14_FBXL17_chr5_107684100_ENST00000496714_SPINK14_chr5_147553797_ENST00000356972_length(transcript)=697nt_BP=514nt
GATATTTTCCAATTTGTCACTGGATGAGCGTTGCCTTTCCGCATCATTGGTTTGCAAGTACTGGCGTGACCTTTGTTTAGACTTCCAGTT
TTGGAAGCAGCTGGATCTTAGTAGTCGTCAGCAGGTCACTGATGAATTGTTGGAAAAAATTGCATCAAGAAGTCAGAATATAATTGAAAT
CAACATTTCTGATTGTCGCAGTATGTCTGATAATGGCGTATGTGTTTTAGCATTTAAATGTCCTGGACTTCTTAGGTATACAGCCTACAG
GTGTAAACAGCTTTCTGACACCTCTATTATTGCGGTTGCCTCTCACTGTCCTTTACTTCAGAAAGTGCATGTAGGCAACCAGGACAAACT
CACTGATGAAGGACTCAAGCAGCTGGGCTCAAAATGCAGAGAACTCAAAGATATTCATTTCGGCCAGTGTTACAAGATCTCAGATGAAGG
CATGATCGTCATAGCTAAGGGCTGTCTGAAATTACAAAGGATATACATGCAGGAAAACAAATTAGTGAAATGTCCATATGAGAAAGTAAA
CTTGAGCTGGTACAATGGAACGGTCAACCCCTGCCCTGGCTTATATCAACCCATCTGCGGCACCAATTTTATAACCTATGATAATCCCTG

>29605_29605_1_FBXL17-SPINK14_FBXL17_chr5_107684100_ENST00000496714_SPINK14_chr5_147553797_ENST00000356972_length(amino acids)=228AA_BP=167
MSLDERCLSASLVCKYWRDLCLDFQFWKQLDLSSRQQVTDELLEKIASRSQNIIEINISDCRSMSDNGVCVLAFKCPGLLRYTAYRCKQL
SDTSIIAVASHCPLLQKVHVGNQDKLTDEGLKQLGSKCRELKDIHFGQCYKISDEGMIVIAKGCLKLQRIYMQENKLVKCPYEKVNLSWY

--------------------------------------------------------------
>29605_29605_2_FBXL17-SPINK14_FBXL17_chr5_107684100_ENST00000542267_SPINK14_chr5_147553797_ENST00000356972_length(transcript)=2096nt_BP=1913nt
AGAGTCGCGGGTGCGCGCGCCGGCGGCGGATCCGCAGTTAAAATGGTCCGAGCGGGACCCGGCCTTTCCCCGGCCGCTCCGCTGACTGAC
TGAGCCGGCTGGCCGGGCCCGGACTGGTCGCCTAGCCGGCAGGCTCGCTCGCTCCCTCCCTCGCGTCCCCAAAGCTCGCGCCCATCGTTC
TCCCGGCTTCCCTGGGCAAAGCATGTAGCCCCCGTCGGGCACTCCGGCGGCCCGCAGCTGACGCCCACCCCCCACCGTCGCGTGTGTGCC
CGTGTGTGCGTGTGTGTGCGCAGGAAGGGCGACCCCTCCGGGGGCCGAGCCAGCGAGCGGCCTGCCCCGCTGCCGGGAGCCCGCCTCTCT
GGGTCTCCCTCCCTCCCGTCCCGGTCCCCCTCCTCGGGGCCTTCTATATGGGCCACCTTCTCTCGAAGGAGCCGCGTAACCGCCCGAGCC
AGAAGAGGCCTCGCTGTTGCAGTTGGTGCCGCCGCCGGCGCCCTCTCCTCAGGCTGCCCCGCCGGACCCCAGCCAAGGTGCCCCCTCAGC
CGGCGGCGCCCCGGAGCCGGGACTGCTTCTTCCGCGGGCCCTGCATGCTCTGCTTCATCGTGCACAGTCCCGGCGCGCCCGCCCCCGCCG
GCCCAGAGGAGGAGCCGCCGCTCTCGCCGCCGCCGCGGGACGGGGCCTACGCTGCCGCCTCCTCCTCTCAGCACCTGGCGCGGCGCTACG
CGGCCCTGGCCGCCGAGGACTGCGCCGCTGCTGCCCGCCGCTTCCTGCTATCCTCGGCCGCCGCCGCCGCCGCCGCTGCCGCCTCGGCTT
CGTCGCCCGCCTCCTGCTGCAAAGAGTTGGGGCTGGCTGCGGCCGCCGCCTGGGAGCAGCAGGGCCGAAGTCTCTTCCTGGCCAGCTTGG
GGCCGGTGCGCTTCCTGGGGCCGCCCGCCGCCGTGCAGCTCTTCCGGGGGCCGACACCGTCACCGGCCGAGCTCCCTACGCCCCCCGAAA
TGGTGTGCAAGCGGAAGGGGGCCGGGGTCCCCGCCTGCACCCCCTGCAAGCAGCCCCGCTGCGGCGGCGGGGGCTGCGGCGGCGGCGGCG
GCGGCGGTGGCGGGGGAGGGCCTGCGGGGGGAGGCGCTTCGCCGCCCCGGCCCCCCGACGCCGGCTGCTGCCAGGCCCCGGAGCAGCCCC
CGCAGCCGCTCTGCCCTCCGCCCTCTTCTCCCACCTCCGAAGGTGCCCCCACCGAAGCTGGCGGGGACGCTGTCCGAGCCGGGGGCACCG
CCCCCTTGTCCGCCCAGCAGCAGCATGAATGTGGCGACGCGGACTGTCGGGAGTCCCCCGAAAACCCCTGCGACTGTCACAGGGAGCCGC
CCCCCGAAACCCCAGACATCAACCAGCTGCCGCCGTCCATCCTGCTCAAGATATTTTCCAATTTGTCACTGGATGAGCGTTGCCTTTCCG
CATCATTGGTTTGCAAGTACTGGCGTGACCTTTGTTTAGACTTCCAGTTTTGGAAGCAGCTGGATCTTAGTAGTCGTCAGCAGGTCACTG
ATGAATTGTTGGAAAAAATTGCATCAAGAAGTCAGAATATAATTGAAATCAACATTTCTGATTGTCGCAGTATGTCTGATAATGGCGTAT
GTGTTTTAGCATTTAAATGTCCTGGACTTCTTAGGTATACAGCCTACAGGTGTAAACAGCTTTCTGACACCTCTATTATTGCGGTTGCCT
CTCACTGTCCTTTACTTCAGAAAGTGCATGTAGGCAACCAGGACAAACTCACTGATGAAGGACTCAAGCAGCTGGGCTCAAAATGCAGAG
AACTCAAAGATATTCATTTCGGCCAGTGTTACAAGATCTCAGATGAAGGCATGATCGTCATAGCTAAGGGCTGTCTGAAATTACAAAGGA
TATACATGCAGGAAAACAAATTAGTGAAATGTCCATATGAGAAAGTAAACTTGAGCTGGTACAATGGAACGGTCAACCCCTGCCCTGGCT
TATATCAACCCATCTGCGGCACCAATTTTATAACCTATGATAATCCCTGCATTCTGTGTGTTGAGAGCTTGAAATCTCATGGAAGAATCA

>29605_29605_2_FBXL17-SPINK14_FBXL17_chr5_107684100_ENST00000542267_SPINK14_chr5_147553797_ENST00000356972_length(amino acids)=635AA_BP=574
MGKACSPRRALRRPAADAHPPPSRVCPCVRVCAQEGRPLRGPSQRAACPAAGSPPLWVSLPPVPVPLLGAFYMGHLLSKEPRNRPSQKRP
RCCSWCRRRRPLLRLPRRTPAKVPPQPAAPRSRDCFFRGPCMLCFIVHSPGAPAPAGPEEEPPLSPPPRDGAYAAASSSQHLARRYAALA
AEDCAAAARRFLLSSAAAAAAAAASASSPASCCKELGLAAAAAWEQQGRSLFLASLGPVRFLGPPAAVQLFRGPTPSPAELPTPPEMVCK
RKGAGVPACTPCKQPRCGGGGCGGGGGGGGGGGPAGGGASPPRPPDAGCCQAPEQPPQPLCPPPSSPTSEGAPTEAGGDAVRAGGTAPLS
AQQQHECGDADCRESPENPCDCHREPPPETPDINQLPPSILLKIFSNLSLDERCLSASLVCKYWRDLCLDFQFWKQLDLSSRQQVTDELL
EKIASRSQNIIEINISDCRSMSDNGVCVLAFKCPGLLRYTAYRCKQLSDTSIIAVASHCPLLQKVHVGNQDKLTDEGLKQLGSKCRELKD
IHFGQCYKISDEGMIVIAKGCLKLQRIYMQENKLVKCPYEKVNLSWYNGTVNPCPGLYQPICGTNFITYDNPCILCVESLKSHGRIRFYH

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

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Fusion Gene PPI Analysis for FBXL17-SPINK14

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 (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for FBXL17-SPINK14

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

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Related Diseases for FBXL17-SPINK14

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source