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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:IKBKB-GOT1L1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: IKBKB-GOT1L1
	FusionPDB ID: 39366
	FusionGDB2.0 ID: 39366
		Hgene	Tgene
	Gene symbol	IKBKB	GOT1L1
	Gene ID	3551	137362
	Gene name	inhibitor of nuclear factor kappa B kinase subunit beta	glutamic-oxaloacetic transaminase 1 like 1
	Synonyms	IKK-beta\|IKK2\|IKKB\|IMD15\|IMD15A\|IMD15B\|NFKBIKB	-
	Cytomap	8p11.21	8p11.23
	Type of gene	protein-coding	protein-coding
	Description	inhibitor of nuclear factor kappa-B kinase subunit betaI-kappa-B kinase 2I-kappa-B-kinase betainhibitor of kappa light polypeptide gene enhancer in B-cells, kinase betanuclear factor NF-kappa-B inhibitor kinase beta	putative aspartate aminotransferase, cytoplasmic 2glutamate oxaloacetate transaminase 1-like protein 1transaminase A-like protein 1
	Modification date	20200313	20200313
	UniProtAcc	O14920	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000416505, ENST00000519735, ENST00000520810, ENST00000520835, ENST00000379708, ENST00000518983, ENST00000522147, ENST00000522785,	ENST00000518826, ENST00000307599,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	9 X 7 X 6=378	3 X 4 X 2=24
	# samples	13	2
	** MAII score	log2(13/378*10)=-1.53987461119262 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(2/24*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: IKBKB [Title/Abstract] AND GOT1L1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	IKBKB(42151030)-GOT1L1(37796399), # samples:2
Anticipated loss of major functional domain due to fusion event.	IKBKB-GOT1L1 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. IKBKB-GOT1L1 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	IKBKB	GO:0006468	protein phosphorylation	15084260\|20434986
Hgene	IKBKB	GO:0018105	peptidyl-serine phosphorylation	21399639
Hgene	IKBKB	GO:0042325	regulation of phosphorylation	26212789
Hgene	IKBKB	GO:0045944	positive regulation of transcription by RNA polymerase II	23091055\|23453807
Hgene	IKBKB	GO:0051092	positive regulation of NF-kappaB transcription factor activity	15790681
Hgene	IKBKB	GO:0071356	cellular response to tumor necrosis factor	23091055

Fusion gene breakpoints across IKBKB (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 GOT1L1 (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	LUAD	TCGA-69-8255-01A	IKBKB	chr8	42151030	+	GOT1L1	chr8	37796399	-

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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)
ENST00000520810	IKBKB	chr8	42151030	+	ENST00000307599	GOT1L1	chr8	37796399	-	1737	574	186	1724	512
ENST00000416505	IKBKB	chr8	42151030	+	ENST00000307599	GOT1L1	chr8	37796399	-	1628	465	233	1615	460
ENST00000519735	IKBKB	chr8	42151030	+	ENST00000307599	GOT1L1	chr8	37796399	-	1721	558	170	1708	512
ENST00000520835	IKBKB	chr8	42151030	+	ENST00000307599	GOT1L1	chr8	37796399	-	1598	435	53	1585	510

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
ENST00000520810	ENST00000307599	IKBKB	chr8	42151030	+	GOT1L1	chr8	37796399	-	0.001555264	0.99844474
ENST00000416505	ENST00000307599	IKBKB	chr8	42151030	+	GOT1L1	chr8	37796399	-	0.001869676	0.9981304
ENST00000519735	ENST00000307599	IKBKB	chr8	42151030	+	GOT1L1	chr8	37796399	-	0.00143779	0.9985623
ENST00000520835	ENST00000307599	IKBKB	chr8	42151030	+	GOT1L1	chr8	37796399	-	0.003944134	0.99605584

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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

>39366_39366_1_IKBKB-GOT1L1_IKBKB_chr8_42151030_ENST00000416505_GOT1L1_chr8_37796399_ENST00000307599_length(amino acids)=460AA_BP=77
MGQGDLEMSSDGTIRLTHPNVVAARDVPEGMQNLAPNDLPLLAMEYCQGGDLRKYLNQFENCCGLREGAILTLLSDIVCMTNEGHPWVSL
VVQKTRLQISQDPSLNYEYLPTMGLKSFIQASLALLFGKHSQAIVENRVGGVHTVGDSGAFQLGVQFLRAWHKDARIVYIISSQKELHGL
VFQDMGFTVYEYSVWDPKKLCMDPDILLNVVEQIPHGCVLVMGNIIDCKLTPSGWAKLMSMIKSKQIFPFFDIPCQGLYTSDLEEDTRIL
QYFVSQGFEFFCSQSLSKNFGIYDEGVGMLVVVAVNNQQLLCVLSQLEGLAQALWLNPPNTGARVITSILCNPALLGEWKQSLKEVVENI
MLTKEKVKEKLQLLGTPGSWGHITEQSGTHGYLGLNSQQVEYLVRKKHIYIPKNGQINFSCINANNINYITEGINEAVLLTESSEMCLPK

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

>39366_39366_2_IKBKB-GOT1L1_IKBKB_chr8_42151030_ENST00000519735_GOT1L1_chr8_37796399_ENST00000307599_length(amino acids)=512AA_BP=129
MSWSPSLTTQTCGAWEMKERLGTGGFGNVIRWHNQETGEQIAIKQCRQELSPRNRERWCLEIQIMRRLTHPNVVAARDVPEGMQNLAPND
LPLLAMEYCQGGDLRKYLNQFENCCGLREGAILTLLSDIVCMTNEGHPWVSLVVQKTRLQISQDPSLNYEYLPTMGLKSFIQASLALLFG
KHSQAIVENRVGGVHTVGDSGAFQLGVQFLRAWHKDARIVYIISSQKELHGLVFQDMGFTVYEYSVWDPKKLCMDPDILLNVVEQIPHGC
VLVMGNIIDCKLTPSGWAKLMSMIKSKQIFPFFDIPCQGLYTSDLEEDTRILQYFVSQGFEFFCSQSLSKNFGIYDEGVGMLVVVAVNNQ
QLLCVLSQLEGLAQALWLNPPNTGARVITSILCNPALLGEWKQSLKEVVENIMLTKEKVKEKLQLLGTPGSWGHITEQSGTHGYLGLNSQ

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

>39366_39366_3_IKBKB-GOT1L1_IKBKB_chr8_42151030_ENST00000520810_GOT1L1_chr8_37796399_ENST00000307599_length(amino acids)=512AA_BP=129
MSWSPSLTTQTCGAWEMKERLGTGGFGNVIRWHNQETGEQIAIKQCRQELSPRNRERWCLEIQIMRRLTHPNVVAARDVPEGMQNLAPND
LPLLAMEYCQGGDLRKYLNQFENCCGLREGAILTLLSDIVCMTNEGHPWVSLVVQKTRLQISQDPSLNYEYLPTMGLKSFIQASLALLFG
KHSQAIVENRVGGVHTVGDSGAFQLGVQFLRAWHKDARIVYIISSQKELHGLVFQDMGFTVYEYSVWDPKKLCMDPDILLNVVEQIPHGC
VLVMGNIIDCKLTPSGWAKLMSMIKSKQIFPFFDIPCQGLYTSDLEEDTRILQYFVSQGFEFFCSQSLSKNFGIYDEGVGMLVVVAVNNQ
QLLCVLSQLEGLAQALWLNPPNTGARVITSILCNPALLGEWKQSLKEVVENIMLTKEKVKEKLQLLGTPGSWGHITEQSGTHGYLGLNSQ

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

>39366_39366_4_IKBKB-GOT1L1_IKBKB_chr8_42151030_ENST00000520835_GOT1L1_chr8_37796399_ENST00000307599_length(amino acids)=510AA_BP=127
MFSGGCHSPGFGRPSPAFPAPGSPPPAPRPCRQETGEQIAIKQCRQELSPRNRERWCLEIQIMRRLTHPNVVAARDVPEGMQNLAPNDLP
LLAMEYCQGGDLRKYLNQFENCCGLREGAILTLLSDIVCMTNEGHPWVSLVVQKTRLQISQDPSLNYEYLPTMGLKSFIQASLALLFGKH
SQAIVENRVGGVHTVGDSGAFQLGVQFLRAWHKDARIVYIISSQKELHGLVFQDMGFTVYEYSVWDPKKLCMDPDILLNVVEQIPHGCVL
VMGNIIDCKLTPSGWAKLMSMIKSKQIFPFFDIPCQGLYTSDLEEDTRILQYFVSQGFEFFCSQSLSKNFGIYDEGVGMLVVVAVNNQQL
LCVLSQLEGLAQALWLNPPNTGARVITSILCNPALLGEWKQSLKEVVENIMLTKEKVKEKLQLLGTPGSWGHITEQSGTHGYLGLNSQQV

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

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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/chr8:42151030/chr8:37796399)
- 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
IKBKB O14920	.
FUNCTION: Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses (PubMed:30337470). Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation. Phosphorylates inhibitors of NF-kappa-B on 2 critical serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. In addition to the NF-kappa-B inhibitors, phosphorylates several other components of the signaling pathway including NEMO/IKBKG, NF-kappa-B subunits RELA and NFKB1, as well as IKK-related kinases TBK1 and IKBKE (PubMed:11297557, PubMed:20410276). IKK-related kinase phosphorylations may prevent the overproduction of inflammatory mediators since they exert a negative regulation on canonical IKKs. Phosphorylates FOXO3, mediating the TNF-dependent inactivation of this pro-apoptotic transcription factor (PubMed:15084260). Also phosphorylates other substrates including NCOA3, BCL10 and IRS1 (PubMed:17213322). Within the nucleus, acts as an adapter protein for NFKBIA degradation in UV-induced NF-kappa-B activation (PubMed:11297557). Phosphorylates RIPK1 at 'Ser-25' which represses its kinase activity and consequently prevents TNF-mediated RIPK1-dependent cell death (By similarity). Phosphorylates the C-terminus of IRF5, stimulating IRF5 homodimerization and translocation into the nucleus (PubMed:25326418). {ECO:0000250\|UniProtKB:O88351, ECO:0000269\|PubMed:11297557, ECO:0000269\|PubMed:15084260, ECO:0000269\|PubMed:17213322, ECO:0000269\|PubMed:19716809, ECO:0000269\|PubMed:20410276, ECO:0000269\|PubMed:20434986, ECO:0000269\|PubMed:20797629, ECO:0000269\|PubMed:21138416, ECO:0000269\|PubMed:25326418, ECO:0000269\|PubMed:30337470}.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000416505

21_29

70.33333333333333

698.0

Nucleotide binding

ATP

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000519735

21_29

129.33333333333334

257.0

Nucleotide binding

ATP

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000520810

21_29

129.33333333333334

757.0

Nucleotide binding

ATP

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000520835

21_29

127.33333333333333

755.0

Nucleotide binding

ATP

- 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

IKBKB

chr8:42151030

chr8:37796399

ENST00000416505

15_300

70.33333333333333

698.0

Domain

Protein kinase

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000519735

15_300

129.33333333333334

257.0

Domain

Protein kinase

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000520810

15_300

129.33333333333334

757.0

Domain

Protein kinase

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000520835

15_300

127.33333333333333

755.0

Domain

Protein kinase

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000416505

458_479

70.33333333333333

698.0

Region

Note=Leucine-zipper

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000416505

737_742

70.33333333333333

698.0

Region

Note=NEMO-binding

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000519735

458_479

129.33333333333334

257.0

Region

Note=Leucine-zipper

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000519735

737_742

129.33333333333334

257.0

Region

Note=NEMO-binding

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000520810

458_479

129.33333333333334

757.0

Region

Note=Leucine-zipper

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000520810

737_742

129.33333333333334

757.0

Region

Note=NEMO-binding

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000520835

458_479

127.33333333333333

755.0

Region

Note=Leucine-zipper

Hgene

IKBKB

chr8:42151030

chr8:37796399

ENST00000520835

737_742

127.33333333333333

755.0

Region

Note=NEMO-binding

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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
IKBKB
GOT1L1

- 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 IKBKB-GOT1L1

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 IKBKB-GOT1L1

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