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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:BTBD1-BBOX1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: BTBD1-BBOX1
	FusionPDB ID: 10439
	FusionGDB2.0 ID: 10439
		Hgene	Tgene
	Gene symbol	BTBD1	BBOX1
	Gene ID	53339	8424
	Gene name	BTB domain containing 1	gamma-butyrobetaine hydroxylase 1
	Synonyms	C15orf1\|NS5ATP8	BBH\|BBOX\|G-BBH\|gamma-BBH
	Cytomap	15q25.2	11p14.2
	Type of gene	protein-coding	protein-coding
	Description	BTB/POZ domain-containing protein 1BTB (POZ) domain containing 1HCV NS5A-transactivated protein 8hepatitis C virus NS5A-transactivated protein 8	gamma-butyrobetaine dioxygenasebutyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1gamma-butyrobetaine,2-oxoglutarate dioxygenase 1
	Modification date	20200327	20200313
	UniProtAcc	B2RXH4	O75936
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000261721, ENST00000379403, ENST00000560015,	ENST00000527505, ENST00000263182, ENST00000525090, ENST00000528583, ENST00000529202,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	11 X 9 X 9=891	4 X 5 X 3=60
	# samples	13	5
	** MAII score	log2(13/891*10)=-2.77691380849347 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/60*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: BTBD1 [Title/Abstract] AND BBOX1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	BTBD1(83710480)-BBOX1(27114715), # samples:3
Anticipated loss of major functional domain due to fusion event.	BTBD1-BBOX1 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. BTBD1-BBOX1 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	BBOX1	GO:0045329	carnitine biosynthetic process	9753662\|20599753

Fusion gene breakpoints across BTBD1 (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 BBOX1 (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	CESC	TCGA-VS-A9UO-01A	BTBD1	chr15	83710480	-	BBOX1	chr11	27114715	+
ChimerDB4	CESC	TCGA-VS-A9UO	BTBD1	chr15	83710480	-	BBOX1	chr11	27114715	+

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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)
ENST00000261721	BTBD1	chr15	83710480	-	ENST00000529202	BBOX1	chr11	27114715	+	2117	1065	203	1894	563
ENST00000261721	BTBD1	chr15	83710480	-	ENST00000263182	BBOX1	chr11	27114715	+	2249	1065	203	1894	563
ENST00000261721	BTBD1	chr15	83710480	-	ENST00000528583	BBOX1	chr11	27114715	+	2251	1065	203	1894	563
ENST00000261721	BTBD1	chr15	83710480	-	ENST00000525090	BBOX1	chr11	27114715	+	2113	1065	203	1894	563
ENST00000379403	BTBD1	chr15	83710480	-	ENST00000529202	BBOX1	chr11	27114715	+	1914	862	0	1691	563
ENST00000379403	BTBD1	chr15	83710480	-	ENST00000263182	BBOX1	chr11	27114715	+	2046	862	0	1691	563
ENST00000379403	BTBD1	chr15	83710480	-	ENST00000528583	BBOX1	chr11	27114715	+	2048	862	0	1691	563
ENST00000379403	BTBD1	chr15	83710480	-	ENST00000525090	BBOX1	chr11	27114715	+	1910	862	0	1691	563

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
ENST00000261721	ENST00000529202	BTBD1	chr15	83710480	-	BBOX1	chr11	27114715	+	0.001093357	0.9989066
ENST00000261721	ENST00000263182	BTBD1	chr15	83710480	-	BBOX1	chr11	27114715	+	0.000978686	0.9990213
ENST00000261721	ENST00000528583	BTBD1	chr15	83710480	-	BBOX1	chr11	27114715	+	0.000981157	0.9990188
ENST00000261721	ENST00000525090	BTBD1	chr15	83710480	-	BBOX1	chr11	27114715	+	0.001118851	0.99888116
ENST00000379403	ENST00000529202	BTBD1	chr15	83710480	-	BBOX1	chr11	27114715	+	0.001074046	0.998926
ENST00000379403	ENST00000263182	BTBD1	chr15	83710480	-	BBOX1	chr11	27114715	+	0.000950906	0.9990491
ENST00000379403	ENST00000528583	BTBD1	chr15	83710480	-	BBOX1	chr11	27114715	+	0.000955778	0.99904424
ENST00000379403	ENST00000525090	BTBD1	chr15	83710480	-	BBOX1	chr11	27114715	+	0.001105565	0.9988945

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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

>10439_10439_1_BTBD1-BBOX1_BTBD1_chr15_83710480_ENST00000261721_BBOX1_chr11_27114715_ENST00000263182_length(amino acids)=563AA_BP=287
MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREPLYNWQATKASLKERFAFLFNSELLSDVRFVLGKGRGAAAAGGPQRI
PAHRFVLAAGSAVFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMTTLYTAKKYAVPALEAHCVEFLTKHLRADNA
FMLLTQARLFDEPQLASLCLDTIDKSTMDAISAEGFTDIDIDTLCAVLERDTLSIRESRLFGAVVRWAEAECQRQQLPVTFGNKQKVLGK
ALSLIRFPLMTIEEFAAECQYWGSELQLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHTWQVQ
DKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSK
HKIIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALKEFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISRHLEG

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

>10439_10439_2_BTBD1-BBOX1_BTBD1_chr15_83710480_ENST00000261721_BBOX1_chr11_27114715_ENST00000525090_length(amino acids)=563AA_BP=287
MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREPLYNWQATKASLKERFAFLFNSELLSDVRFVLGKGRGAAAAGGPQRI
PAHRFVLAAGSAVFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMTTLYTAKKYAVPALEAHCVEFLTKHLRADNA
FMLLTQARLFDEPQLASLCLDTIDKSTMDAISAEGFTDIDIDTLCAVLERDTLSIRESRLFGAVVRWAEAECQRQQLPVTFGNKQKVLGK
ALSLIRFPLMTIEEFAAECQYWGSELQLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHTWQVQ
DKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSK
HKIIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALKEFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISRHLEG

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

>10439_10439_3_BTBD1-BBOX1_BTBD1_chr15_83710480_ENST00000261721_BBOX1_chr11_27114715_ENST00000528583_length(amino acids)=563AA_BP=287
MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREPLYNWQATKASLKERFAFLFNSELLSDVRFVLGKGRGAAAAGGPQRI
PAHRFVLAAGSAVFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMTTLYTAKKYAVPALEAHCVEFLTKHLRADNA
FMLLTQARLFDEPQLASLCLDTIDKSTMDAISAEGFTDIDIDTLCAVLERDTLSIRESRLFGAVVRWAEAECQRQQLPVTFGNKQKVLGK
ALSLIRFPLMTIEEFAAECQYWGSELQLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHTWQVQ
DKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSK
HKIIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALKEFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISRHLEG

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

>10439_10439_4_BTBD1-BBOX1_BTBD1_chr15_83710480_ENST00000261721_BBOX1_chr11_27114715_ENST00000529202_length(amino acids)=563AA_BP=287
MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREPLYNWQATKASLKERFAFLFNSELLSDVRFVLGKGRGAAAAGGPQRI
PAHRFVLAAGSAVFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMTTLYTAKKYAVPALEAHCVEFLTKHLRADNA
FMLLTQARLFDEPQLASLCLDTIDKSTMDAISAEGFTDIDIDTLCAVLERDTLSIRESRLFGAVVRWAEAECQRQQLPVTFGNKQKVLGK
ALSLIRFPLMTIEEFAAECQYWGSELQLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHTWQVQ
DKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSK
HKIIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALKEFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISRHLEG

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

>10439_10439_5_BTBD1-BBOX1_BTBD1_chr15_83710480_ENST00000379403_BBOX1_chr11_27114715_ENST00000263182_length(amino acids)=563AA_BP=287
MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREPLYNWQATKASLKERFAFLFNSELLSDVRFVLGKGRGAAAAGGPQRI
PAHRFVLAAGSAVFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMTTLYTAKKYAVPALEAHCVEFLTKHLRADNA
FMLLTQARLFDEPQLASLCLDTIDKSTMDAISAEGFTDIDIDTLCAVLERDTLSIRESRLFGAVVRWAEAECQRQQLPVTFGNKQKVLGK
ALSLIRFPLMTIEEFAAECQYWGSELQLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHTWQVQ
DKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSK
HKIIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALKEFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISRHLEG

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

>10439_10439_6_BTBD1-BBOX1_BTBD1_chr15_83710480_ENST00000379403_BBOX1_chr11_27114715_ENST00000525090_length(amino acids)=563AA_BP=287
MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREPLYNWQATKASLKERFAFLFNSELLSDVRFVLGKGRGAAAAGGPQRI
PAHRFVLAAGSAVFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMTTLYTAKKYAVPALEAHCVEFLTKHLRADNA
FMLLTQARLFDEPQLASLCLDTIDKSTMDAISAEGFTDIDIDTLCAVLERDTLSIRESRLFGAVVRWAEAECQRQQLPVTFGNKQKVLGK
ALSLIRFPLMTIEEFAAECQYWGSELQLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHTWQVQ
DKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSK
HKIIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALKEFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISRHLEG

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

>10439_10439_7_BTBD1-BBOX1_BTBD1_chr15_83710480_ENST00000379403_BBOX1_chr11_27114715_ENST00000528583_length(amino acids)=563AA_BP=287
MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREPLYNWQATKASLKERFAFLFNSELLSDVRFVLGKGRGAAAAGGPQRI
PAHRFVLAAGSAVFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMTTLYTAKKYAVPALEAHCVEFLTKHLRADNA
FMLLTQARLFDEPQLASLCLDTIDKSTMDAISAEGFTDIDIDTLCAVLERDTLSIRESRLFGAVVRWAEAECQRQQLPVTFGNKQKVLGK
ALSLIRFPLMTIEEFAAECQYWGSELQLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHTWQVQ
DKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSK
HKIIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALKEFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISRHLEG

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

>10439_10439_8_BTBD1-BBOX1_BTBD1_chr15_83710480_ENST00000379403_BBOX1_chr11_27114715_ENST00000529202_length(amino acids)=563AA_BP=287
MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREPLYNWQATKASLKERFAFLFNSELLSDVRFVLGKGRGAAAAGGPQRI
PAHRFVLAAGSAVFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMTTLYTAKKYAVPALEAHCVEFLTKHLRADNA
FMLLTQARLFDEPQLASLCLDTIDKSTMDAISAEGFTDIDIDTLCAVLERDTLSIRESRLFGAVVRWAEAECQRQQLPVTFGNKQKVLGK
ALSLIRFPLMTIEEFAAECQYWGSELQLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHTWQVQ
DKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSK
HKIIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALKEFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISRHLEG

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

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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/chr15:83710480/chr11:27114715)
- 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
BTBD1 B2RXH4	BBOX1 O75936
FUNCTION: Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene. {ECO:0000250\|UniProtKB:A0A0A6YY25}.	FUNCTION: Catalyzes the formation of L-carnitine from gamma-butyrobetaine.

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

BTBD1

chr15:83710480

chr11:27114715

ENST00000261721

25_31

287.3333333333333

483.0

Compositional bias

Poly-Pro

Hgene

BTBD1

chr15:83710480

chr11:27114715

ENST00000379403

25_31

287.3333333333333

337.3333333333333

Compositional bias

Poly-Pro

Hgene

BTBD1

chr15:83710480

chr11:27114715

ENST00000261721

184_284

287.3333333333333

483.0

Domain

BACK

Hgene

BTBD1

chr15:83710480

chr11:27114715

ENST00000261721

69_145

287.3333333333333

483.0

Domain

BTB

Hgene

BTBD1

chr15:83710480

chr11:27114715

ENST00000379403

184_284

287.3333333333333

337.3333333333333

Domain

BACK

Hgene

BTBD1

chr15:83710480

chr11:27114715

ENST00000379403

69_145

287.3333333333333

337.3333333333333

Domain

BTB

- 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

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1206_BTBD1_83710480_BBOX1_27114715_1206_BTBD1_83710480_BBOX1_27114715_ranked_0.pdb	BTBD1	83710480	83710480	ENST00000525090	BBOX1	chr11	27114715	+	MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREPLYNWQATKASLKERFAFLFNSELLSDVRFVLGKGRGAAAAGGPQRI PAHRFVLAAGSAVFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMTTLYTAKKYAVPALEAHCVEFLTKHLRADNA FMLLTQARLFDEPQLASLCLDTIDKSTMDAISAEGFTDIDIDTLCAVLERDTLSIRESRLFGAVVRWAEAECQRQQLPVTFGNKQKVLGK ALSLIRFPLMTIEEFAAECQYWGSELQLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHTWQVQ DKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSK HKIIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALKEFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISRHLEG	563

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

BTBD1_pLDDT.png

BBOX1_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
BTBD1
BBOX1

- 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 BTBD1-BBOX1

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 BTBD1-BBOX1

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