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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:BTD-BCAS3

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: BTD-BCAS3
	FusionPDB ID: 10508
	FusionGDB2.0 ID: 10508
		Hgene	Tgene
	Gene symbol	BTD	BCAS3
	Gene ID	221833	54828
	Gene name	Sp8 transcription factor	BCAS3 microtubule associated cell migration factor
	Synonyms	BTD	GAOB1\|MAAB
	Cytomap	7p21.1	17q23.2
	Type of gene	protein-coding	protein-coding
	Description	transcription factor Sp8specificity protein 8	breast carcinoma-amplified sequence 3BCAS4/BCAS3 fusionRudhirabreast carcinoma amplified sequence 4/3 fusion proteinmetastasis associated antigen of breast cancerprotein Maab1
	Modification date	20200313	20200313
	UniProtAcc	P43251	Q9H6U6
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000303498, ENST00000383778, ENST00000437172, ENST00000449107, ENST00000482824,	ENST00000585812, ENST00000390652, ENST00000407086, ENST00000408905, ENST00000585744, ENST00000588462, ENST00000588874, ENST00000589222,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	3 X 3 X 2=18	45 X 32 X 19=27360
	# samples	3	53
	** MAII score	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(53/27360*10)=-5.6899320603227 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: BTD [Title/Abstract] AND BCAS3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	BTD(15686438)-BCAS3(59445688), # samples:2
Anticipated loss of major functional domain due to fusion event.	BTD-BCAS3 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. BTD-BCAS3 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. BTD-BCAS3 seems lost the major protein functional domain in Tgene 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
Tgene	BCAS3	GO:0043085	positive regulation of catalytic activity	17505058
Tgene	BCAS3	GO:0045944	positive regulation of transcription by RNA polymerase II	17505058
Tgene	BCAS3	GO:0071391	cellular response to estrogen stimulus	17505058

Fusion gene breakpoints across BTD (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 BCAS3 (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	SARC	TCGA-DX-A1L2-01A	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+
ChimerDB4	SARC	TCGA-DX-A8BJ-01A	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+

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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)
ENST00000449107	BTD	chr3	15686438	+	ENST00000589222	BCAS3	chr17	59445688	+	2384	1204	657	1	219
ENST00000449107	BTD	chr3	15686438	+	ENST00000407086	BCAS3	chr17	59445688	+	2227	1204	657	1	219
ENST00000449107	BTD	chr3	15686438	+	ENST00000390652	BCAS3	chr17	59445688	+	2234	1204	657	1	219
ENST00000449107	BTD	chr3	15686438	+	ENST00000408905	BCAS3	chr17	59445688	+	2293	1204	657	1	219
ENST00000449107	BTD	chr3	15686438	+	ENST00000588462	BCAS3	chr17	59445688	+	2293	1204	657	1	219
ENST00000449107	BTD	chr3	15686438	+	ENST00000585744	BCAS3	chr17	59445688	+	1521	1204	570	1109	179
ENST00000449107	BTD	chr3	15686438	+	ENST00000588874	BCAS3	chr17	59445688	+	2226	1204	570	1109	179
ENST00000303498	BTD	chr3	15686438	+	ENST00000589222	BCAS3	chr17	59445688	+	2639	1459	672	16	218
ENST00000303498	BTD	chr3	15686438	+	ENST00000407086	BCAS3	chr17	59445688	+	2482	1459	672	16	218
ENST00000303498	BTD	chr3	15686438	+	ENST00000390652	BCAS3	chr17	59445688	+	2489	1459	672	16	218
ENST00000303498	BTD	chr3	15686438	+	ENST00000408905	BCAS3	chr17	59445688	+	2548	1459	672	16	218
ENST00000303498	BTD	chr3	15686438	+	ENST00000588462	BCAS3	chr17	59445688	+	2548	1459	672	16	218
ENST00000303498	BTD	chr3	15686438	+	ENST00000585744	BCAS3	chr17	59445688	+	1776	1459	585	1124	179
ENST00000303498	BTD	chr3	15686438	+	ENST00000588874	BCAS3	chr17	59445688	+	2481	1459	585	1124	179
ENST00000383778	BTD	chr3	15686438	+	ENST00000589222	BCAS3	chr17	59445688	+	2702	1522	861	313	182
ENST00000383778	BTD	chr3	15686438	+	ENST00000407086	BCAS3	chr17	59445688	+	2545	1522	861	313	182
ENST00000383778	BTD	chr3	15686438	+	ENST00000390652	BCAS3	chr17	59445688	+	2552	1522	861	313	182
ENST00000383778	BTD	chr3	15686438	+	ENST00000408905	BCAS3	chr17	59445688	+	2611	1522	861	313	182
ENST00000383778	BTD	chr3	15686438	+	ENST00000588462	BCAS3	chr17	59445688	+	2611	1522	861	313	182
ENST00000383778	BTD	chr3	15686438	+	ENST00000585744	BCAS3	chr17	59445688	+	1839	1522	861	313	182
ENST00000383778	BTD	chr3	15686438	+	ENST00000588874	BCAS3	chr17	59445688	+	2544	1522	861	313	182

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
ENST00000449107	ENST00000589222	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.009329138	0.9906709
ENST00000449107	ENST00000407086	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.008859008	0.99114096
ENST00000449107	ENST00000390652	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.00903217	0.9909678
ENST00000449107	ENST00000408905	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.012219933	0.9877801
ENST00000449107	ENST00000588462	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.012219933	0.9877801
ENST00000449107	ENST00000585744	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.005043134	0.9949569
ENST00000449107	ENST00000588874	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.008777902	0.99122214
ENST00000303498	ENST00000589222	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.012383743	0.98761624
ENST00000303498	ENST00000407086	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.013472199	0.98652786
ENST00000303498	ENST00000390652	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.01358622	0.9864138
ENST00000303498	ENST00000408905	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.012772765	0.98722726
ENST00000303498	ENST00000588462	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.012772765	0.98722726
ENST00000303498	ENST00000585744	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.009614768	0.9903852
ENST00000303498	ENST00000588874	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.013547594	0.98645246
ENST00000383778	ENST00000589222	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.03837089	0.9616291
ENST00000383778	ENST00000407086	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.038604807	0.96139526
ENST00000383778	ENST00000390652	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.03812868	0.9618713
ENST00000383778	ENST00000408905	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.058189318	0.94181067
ENST00000383778	ENST00000588462	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.058189318	0.94181067
ENST00000383778	ENST00000585744	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.03179287	0.9682072
ENST00000383778	ENST00000588874	BTD	chr3	15686438	+	BCAS3	chr17	59445688	+	0.0388946	0.9611054

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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

>10508_10508_1_BTD-BCAS3_BTD_chr3_15686438_ENST00000303498_BCAS3_chr17_59445688_ENST00000390652_length(amino acids)=218AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSALSAPS

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

>10508_10508_2_BTD-BCAS3_BTD_chr3_15686438_ENST00000303498_BCAS3_chr17_59445688_ENST00000407086_length(amino acids)=218AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSALSAPS

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

>10508_10508_3_BTD-BCAS3_BTD_chr3_15686438_ENST00000303498_BCAS3_chr17_59445688_ENST00000408905_length(amino acids)=218AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSALSAPS

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

>10508_10508_4_BTD-BCAS3_BTD_chr3_15686438_ENST00000303498_BCAS3_chr17_59445688_ENST00000585744_length(amino acids)=179AA_BP=
MSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYY

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

>10508_10508_5_BTD-BCAS3_BTD_chr3_15686438_ENST00000303498_BCAS3_chr17_59445688_ENST00000588462_length(amino acids)=218AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSALSAPS

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

>10508_10508_6_BTD-BCAS3_BTD_chr3_15686438_ENST00000303498_BCAS3_chr17_59445688_ENST00000588874_length(amino acids)=179AA_BP=
MSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYY

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

>10508_10508_7_BTD-BCAS3_BTD_chr3_15686438_ENST00000303498_BCAS3_chr17_59445688_ENST00000589222_length(amino acids)=218AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSALSAPS

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

>10508_10508_8_BTD-BCAS3_BTD_chr3_15686438_ENST00000383778_BCAS3_chr17_59445688_ENST00000390652_length(amino acids)=182AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSSRCSFH

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

>10508_10508_9_BTD-BCAS3_BTD_chr3_15686438_ENST00000383778_BCAS3_chr17_59445688_ENST00000407086_length(amino acids)=182AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSSRCSFH

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

>10508_10508_10_BTD-BCAS3_BTD_chr3_15686438_ENST00000383778_BCAS3_chr17_59445688_ENST00000408905_length(amino acids)=182AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSSRCSFH

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

>10508_10508_11_BTD-BCAS3_BTD_chr3_15686438_ENST00000383778_BCAS3_chr17_59445688_ENST00000585744_length(amino acids)=182AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSSRCSFH

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

>10508_10508_12_BTD-BCAS3_BTD_chr3_15686438_ENST00000383778_BCAS3_chr17_59445688_ENST00000588462_length(amino acids)=182AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSSRCSFH

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

>10508_10508_13_BTD-BCAS3_BTD_chr3_15686438_ENST00000383778_BCAS3_chr17_59445688_ENST00000588874_length(amino acids)=182AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSSRCSFH

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

>10508_10508_14_BTD-BCAS3_BTD_chr3_15686438_ENST00000383778_BCAS3_chr17_59445688_ENST00000589222_length(amino acids)=182AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSSRCSFH

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

>10508_10508_15_BTD-BCAS3_BTD_chr3_15686438_ENST00000449107_BCAS3_chr17_59445688_ENST00000390652_length(amino acids)=219AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSALHRQQ

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

>10508_10508_16_BTD-BCAS3_BTD_chr3_15686438_ENST00000449107_BCAS3_chr17_59445688_ENST00000407086_length(amino acids)=219AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSALHRQQ

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

>10508_10508_17_BTD-BCAS3_BTD_chr3_15686438_ENST00000449107_BCAS3_chr17_59445688_ENST00000408905_length(amino acids)=219AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSALHRQQ

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

>10508_10508_18_BTD-BCAS3_BTD_chr3_15686438_ENST00000449107_BCAS3_chr17_59445688_ENST00000585744_length(amino acids)=179AA_BP=
MSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYY

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

>10508_10508_19_BTD-BCAS3_BTD_chr3_15686438_ENST00000449107_BCAS3_chr17_59445688_ENST00000588462_length(amino acids)=219AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSALHRQQ

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

>10508_10508_20_BTD-BCAS3_BTD_chr3_15686438_ENST00000449107_BCAS3_chr17_59445688_ENST00000588874_length(amino acids)=179AA_BP=
MSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVHGTYY

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

>10508_10508_21_BTD-BCAS3_BTD_chr3_15686438_ENST00000449107_BCAS3_chr17_59445688_ENST00000589222_length(amino acids)=219AA_BP=
MWEEHSRSTWWPHHSGLPEHPSHSTDRLTKFLKTYLCVIEAVRLQAWVPPDHLGRRHEVQKWINGCSCKVESMNAIFWKHYNLYILLGCS
HHLLFIDVKVLVHELQGLLAADESQRVQTQDGWMLIHGSHIIFSLVMVSHALLPGVGSQGNHVTAAEEKSKLTSGSRHNADHKSALHRQQ

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

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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/chr3:15686438/chr17:59445688)
- 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
BTD P43251	BCAS3 Q9H6U6
FUNCTION: Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.	FUNCTION: Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin. {ECO:0000250\|UniProtKB:Q8CCN5, ECO:0000269\|PubMed:17505058}.

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

- 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

BTD

chr3:15686438

chr17:59445688

ENST00000303498

72_351

544.0

Domain

CN hydrolase

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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)

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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.

BTD_pLDDT.png

BCAS3_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
BTD
BCAS3

- 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 BTD-BCAS3

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 BTD-BCAS3

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