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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:HAUS8-FAF1 (FusionGDB2 ID:35661)

Fusion Gene Summary for HAUS8-FAF1

Fusion gene summary

Fusion gene information	Fusion gene name: HAUS8-FAF1
	Fusion gene ID: 35661
		Hgene	Tgene
	Gene symbol	HAUS8	FAF1
	Gene ID	93323	11124
	Gene name	HAUS augmin like complex subunit 8	Fas associated factor 1
	Synonyms	DGT4\|HICE1\|NY-SAR-48	CGI-03\|HFAF1s\|UBXD12\|UBXN3A\|hFAF1
	Cytomap	19p13.11	1p32.3
	Type of gene	protein-coding	protein-coding
	Description	HAUS augmin-like complex subunit 8HEC1/NDC80 interacting, centrosome associated 1HEC1/NDC80-interacting centrosome-associated protein 1Hec1-interacting and centrosome-associated 1sarcoma antigen NY-SAR-48	FAS-associated factor 1Fas (TNFRSF6) associated factor 1TNFRSF6-associated factor 1UBX domain protein 3AUBX domain-containing protein 12UBX domain-containing protein 3A
	Modification date	20200313	20200313
	UniProtAcc	Q9BT25	Q9UNN5
	Ensembl transtripts involved in fusion gene	ENST00000253669, ENST00000448593, ENST00000593360,	ENST00000371778, ENST00000396153, ENST00000472808, ENST00000545823,
Fusion gene scores	* DoF score	8 X 6 X 7=336	28 X 23 X 14=9016
	# samples	8	31
	** MAII score	log2(8/336*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(31/9016*10)=-4.86214739489798 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: HAUS8 [Title/Abstract] AND FAF1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	HAUS8(17170420)-FAF1(51406327), # samples:1
Anticipated loss of major functional domain due to fusion event.

* 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	FAF1	GO:0010942	positive regulation of cell death	15596450

Fusion gene breakpoints across HAUS8 (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 FAF1 (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
ChiTaRS5.0	N/A	BQ318601	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+

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Fusion Gene ORF analysis for HAUS8-FAF1

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
intron-intron	ENST00000253669	ENST00000371778	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+
intron-intron	ENST00000253669	ENST00000396153	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+
intron-intron	ENST00000253669	ENST00000472808	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+
intron-intron	ENST00000253669	ENST00000545823	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+
intron-intron	ENST00000448593	ENST00000371778	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+
intron-intron	ENST00000448593	ENST00000396153	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+
intron-intron	ENST00000448593	ENST00000472808	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+
intron-intron	ENST00000448593	ENST00000545823	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+
intron-intron	ENST00000593360	ENST00000371778	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+
intron-intron	ENST00000593360	ENST00000396153	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+
intron-intron	ENST00000593360	ENST00000472808	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+
intron-intron	ENST00000593360	ENST00000545823	HAUS8	chr19	17170420	+	FAF1	chr1	51406327	+

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)

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

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Fusion Genomic Features for HAUS8-FAF1

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)

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 HAUS8-FAF1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:17170420/:51406327)
- 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
HAUS8 Q9BT25	FAF1 Q9UNN5
FUNCTION: Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. {ECO:0000269\|PubMed:18362163, ECO:0000269\|PubMed:19369198, ECO:0000269\|PubMed:19427217}.	FUNCTION: Ubiquitin-binding protein (PubMed:19722279). Required for the progression of DNA replication forks by targeting DNA replication licensing factor CDT1 for degradation (PubMed:26842564). Potentiates but cannot initiate FAS-induced apoptosis (By similarity). {ECO:0000250\|UniProtKB:P54731, ECO:0000269\|PubMed:19722279, ECO:0000269\|PubMed:26842564}.

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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Fusion Gene Sequence for HAUS8-FAF1

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.

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Fusion Gene PPI Analysis for HAUS8-FAF1

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 HAUS8-FAF1

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 HAUS8-FAF1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source