	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
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	RelatedDiseases

Fusion gene ID: 4533

FusionGeneSummary for BTBD3_MACF1

Fusion gene summary

Fusion gene information	Fusion gene name: BTBD3_MACF1
	Fusion gene ID: 4533
		Hgene	Tgene
	Gene symbol	BTBD3	MACF1
	Gene ID	22903	23499
	Gene name	BTB domain containing 3	microtubule-actin crosslinking factor 1
	Synonyms	dJ742J24.1	ABP620\|ACF7\|MACF\|OFC4
	Cytomap	20p12.2	1p34.3
	Type of gene	protein-coding	protein-coding
	Description	BTB/POZ domain-containing protein 3BTB (POZ) domain containing 3	microtubule-actin cross-linking factor 1620 kDa actin binding proteinactin cross-linking family protein 7macrophin 1 isoformtrabeculin-alpha
	Modification date	20180523	20180523
	UniProtAcc	Q9Y2F9	Q9UPN3
	Ensembl transtripts involved in fusion gene	ENST00000254977, ENST00000399006, ENST00000405977, ENST00000378226, ENST00000488503,	ENST00000545844, ENST00000567887, ENST00000372915, ENST00000361689, ENST00000539005, ENST00000317713, ENST00000564288, ENST00000289893, ENST00000536367, ENST00000484793, ENST00000602421, ENST00000476350,
Fusion gene scores	* DoF score	5 X 2 X 4=40	11 X 11 X 6=726
	# samples	4	11
	** MAII score	log2(4/40*10)=0	log2(11/726*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: BTBD3 [Title/Abstract] AND MACF1 [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation

* 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	MACF1	GO:0030334	regulation of cell migration	27693509
Tgene	MACF1	GO:0043001	Golgi to plasma membrane protein transport	15265687
Tgene	MACF1	GO:0045773	positive regulation of axon extension	22705394
Tgene	MACF1	GO:0051893	regulation of focal adhesion assembly	27693509

Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.

Data type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	RV	LUSC	TCGA-98-8021-01A	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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
5UTR-3CDS	ENST00000254977	ENST00000545844	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000254977	ENST00000567887	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000254977	ENST00000372915	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000254977	ENST00000361689	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000254977	ENST00000539005	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000254977	ENST00000317713	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000254977	ENST00000564288	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000254977	ENST00000289893	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000254977	ENST00000536367	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000254977	ENST00000484793	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000254977	ENST00000602421	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000254977	ENST00000476350	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000399006	ENST00000545844	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000399006	ENST00000567887	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000399006	ENST00000372915	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000399006	ENST00000361689	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000399006	ENST00000539005	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000399006	ENST00000317713	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000399006	ENST00000564288	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000399006	ENST00000289893	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000399006	ENST00000536367	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000399006	ENST00000484793	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000399006	ENST00000602421	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000399006	ENST00000476350	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000405977	ENST00000545844	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000405977	ENST00000567887	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000405977	ENST00000372915	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000405977	ENST00000361689	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000405977	ENST00000539005	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000405977	ENST00000317713	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-3CDS	ENST00000405977	ENST00000564288	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000405977	ENST00000289893	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000405977	ENST00000536367	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000405977	ENST00000484793	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000405977	ENST00000602421	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
5UTR-intron	ENST00000405977	ENST00000476350	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000378226	ENST00000545844	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000378226	ENST00000567887	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000378226	ENST00000372915	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000378226	ENST00000361689	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000378226	ENST00000539005	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000378226	ENST00000317713	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000378226	ENST00000564288	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-intron	ENST00000378226	ENST00000289893	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-intron	ENST00000378226	ENST00000536367	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-intron	ENST00000378226	ENST00000484793	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-intron	ENST00000378226	ENST00000602421	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-intron	ENST00000378226	ENST00000476350	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000488503	ENST00000545844	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000488503	ENST00000567887	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000488503	ENST00000372915	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000488503	ENST00000361689	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000488503	ENST00000539005	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000488503	ENST00000317713	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-3CDS	ENST00000488503	ENST00000564288	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-intron	ENST00000488503	ENST00000289893	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-intron	ENST00000488503	ENST00000536367	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-intron	ENST00000488503	ENST00000484793	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-intron	ENST00000488503	ENST00000602421	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+
intron-intron	ENST00000488503	ENST00000476350	BTBD3	chr20	11871602	+	MACF1	chr1	39715686	+

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FusionProtFeatures for BTBD3_MACF1

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
BTBD3 Q9Y2F9	MACF1 Q9UPN3
Acts as a key regulator of dendritic field orientationduring development of sensory cortex. Also directs dendritestoward active axon terminals when ectopically expressed (Bysimilarity). {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

- 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

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FusionGeneSequence for BTBD3_MACF1

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for BTBD3_MACF1

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
BTBD3	PLXNB3, ELAVL1, CLTC, SEC16A, GTSE1, TRIM25	MACF1	MAPK9, JUN, APC, TERF2, ESRRA, CDC5L, DISC1, DTNBP1, CEP63, TRAF3IP1, EXOC1, TNIK, NRCAM, NRXN1, PLXND1, CNTNAP2, NRXN2, TANGO6, CNTNAP4, CEBPA, SIRT7, CUL3, HUWE1, EIF5A, PSMD5, PDIA6, VCAM1, FN1, SKIL, SOX2, HECW2, YBX3, CSRP1, PRKCD, MAPRE1, CUL7, OBSL1, CCDC8, ABCE1, SNAP29, AMMECR1L, TTC29, CDKL5, USP7, YWHAE, SRPK2, CAPZA2, DAXX, MAD2L1, MYH9, SYNCRIP, KIAA1107, BAG6, MCM2, ATOH1, CDH1, ID2, ALX3, MTUS2, UBC, MTNR1B, G3BP1, TES

- 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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RelatedDrugs for BTBD3_MACF1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for BTBD3_MACF1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 4533

FusionGeneSummary for BTBD3_MACF1

FusionProtFeatures for BTBD3_MACF1

FusionGeneSequence for BTBD3_MACF1

FusionGenePPI for BTBD3_MACF1

RelatedDrugs for BTBD3_MACF1

RelatedDiseases for BTBD3_MACF1