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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:MEAF6-PHF1 (FusionGDB2 ID:52483)

Fusion Gene Summary for MEAF6-PHF1

Fusion gene summary

Fusion gene information	Fusion gene name: MEAF6-PHF1
	Fusion gene ID: 52483
		Hgene	Tgene
	Gene symbol	MEAF6	PHF1
	Gene ID	64769	5252
	Gene name	MYST/Esa1 associated factor 6	PHD finger protein 1
	Synonyms	C1orf149\|CENP-28\|EAF6\|NY-SAR-91	MTF2L2\|PCL1\|PHF2\|TDRD19C\|hPHF1
	Cytomap	1p34.3	6p21.32
	Type of gene	protein-coding	protein-coding
	Description	chromatin modification-related protein MEAF6Esa1p-associated factor 6 homologcentromere protein 28protein EAF6 homologsarcoma antigen NY-SAR-91	PHD finger protein 1hPCl1polycomb-like 1polycomb-like protein 1testicular tissue protein Li 140tudor domain containing 19C
	Modification date	20200313	20200313
	UniProtAcc	Q9HAF1	.
	Ensembl transtripts involved in fusion gene	ENST00000296214, ENST00000373073, ENST00000373074, ENST00000373075, ENST00000448519, ENST00000475828,	ENST00000459809, ENST00000374512, ENST00000374516, ENST00000427869, ENST00000442136, ENST00000454914, ENST00000475137, ENST00000487460,
Fusion gene scores	* DoF score	2 X 3 X 2=12	6 X 6 X 3=108
	# samples	2	3
	** MAII score	log2(2/12*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(3/108*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: MEAF6 [Title/Abstract] AND PHF1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint
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
Hgene	MEAF6	GO:0043968	histone H2A acetylation	14966270
Hgene	MEAF6	GO:0043981	histone H4-K5 acetylation	16387653
Hgene	MEAF6	GO:0043982	histone H4-K8 acetylation	16387653
Hgene	MEAF6	GO:0043983	histone H4-K12 acetylation	16387653
Hgene	MEAF6	GO:0043984	histone H4-K16 acetylation	16387653
Hgene	MEAF6	GO:0044154	histone H3-K14 acetylation	16387653
Tgene	PHF1	GO:0006974	cellular response to DNA damage stimulus	23142980

Fusion gene breakpoints across MEAF6 (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 PHF1 (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
ChimerKB3	.	.	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
ChimerKB4	.	.	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+

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Fusion Gene ORF analysis for MEAF6-PHF1

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
5CDS-3UTR	ENST00000296214	ENST00000459809	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-3UTR	ENST00000373073	ENST00000459809	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-3UTR	ENST00000373074	ENST00000459809	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-3UTR	ENST00000373075	ENST00000459809	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-3UTR	ENST00000448519	ENST00000459809	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-5UTR	ENST00000296214	ENST00000374512	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-5UTR	ENST00000296214	ENST00000374516	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-5UTR	ENST00000373073	ENST00000374512	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-5UTR	ENST00000373073	ENST00000374516	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-5UTR	ENST00000373074	ENST00000374512	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-5UTR	ENST00000373074	ENST00000374516	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-5UTR	ENST00000373075	ENST00000374512	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-5UTR	ENST00000373075	ENST00000374516	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-5UTR	ENST00000448519	ENST00000374512	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-5UTR	ENST00000448519	ENST00000374516	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000296214	ENST00000427869	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000296214	ENST00000442136	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000296214	ENST00000454914	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000296214	ENST00000475137	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000296214	ENST00000487460	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373073	ENST00000427869	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373073	ENST00000442136	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373073	ENST00000454914	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373073	ENST00000475137	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373073	ENST00000487460	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373074	ENST00000427869	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373074	ENST00000442136	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373074	ENST00000454914	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373074	ENST00000475137	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373074	ENST00000487460	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373075	ENST00000427869	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373075	ENST00000442136	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373075	ENST00000454914	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373075	ENST00000475137	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000373075	ENST00000487460	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000448519	ENST00000427869	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000448519	ENST00000442136	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000448519	ENST00000454914	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000448519	ENST00000475137	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5CDS-intron	ENST00000448519	ENST00000487460	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5UTR-3UTR	ENST00000475828	ENST00000459809	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5UTR-5UTR	ENST00000475828	ENST00000374512	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5UTR-5UTR	ENST00000475828	ENST00000374516	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5UTR-intron	ENST00000475828	ENST00000427869	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5UTR-intron	ENST00000475828	ENST00000442136	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5UTR-intron	ENST00000475828	ENST00000454914	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5UTR-intron	ENST00000475828	ENST00000475137	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
5UTR-intron	ENST00000475828	ENST00000487460	MEAF6	chr1	37967404	-	PHF1	chr6	33380024	+
intron-intron	ENST00000296214	ENST00000374512	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000296214	ENST00000374516	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000296214	ENST00000427869	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000296214	ENST00000442136	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000296214	ENST00000454914	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000296214	ENST00000459809	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000296214	ENST00000475137	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000296214	ENST00000487460	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373073	ENST00000374512	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373073	ENST00000374516	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373073	ENST00000427869	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373073	ENST00000442136	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373073	ENST00000454914	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373073	ENST00000459809	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373073	ENST00000475137	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373073	ENST00000487460	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373074	ENST00000374512	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373074	ENST00000374516	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373074	ENST00000427869	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373074	ENST00000442136	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373074	ENST00000454914	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373074	ENST00000459809	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373074	ENST00000475137	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373074	ENST00000487460	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373075	ENST00000374512	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373075	ENST00000374516	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373075	ENST00000427869	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373075	ENST00000442136	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373075	ENST00000454914	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373075	ENST00000459809	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373075	ENST00000475137	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000373075	ENST00000487460	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000448519	ENST00000374512	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000448519	ENST00000374516	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000448519	ENST00000427869	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000448519	ENST00000442136	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000448519	ENST00000454914	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000448519	ENST00000459809	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000448519	ENST00000475137	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000448519	ENST00000487460	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000475828	ENST00000374512	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000475828	ENST00000374516	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000475828	ENST00000427869	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000475828	ENST00000442136	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000475828	ENST00000454914	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000475828	ENST00000459809	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000475828	ENST00000475137	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+
intron-intron	ENST00000475828	ENST00000487460	MEAF6	chr1	37967597	-	PHF1	chr6	37967597	+

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 MEAF6-PHF1

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 MEAF6-PHF1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:)
- 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
MEAF6 Q9HAF1	.
FUNCTION: Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A (PubMed:14966270). This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription (PubMed:14966270). Component of HBO1 complexes, which specifically mediate acetylation of histone H3 at 'Lys-14' (H3K14ac), and have reduced activity toward histone H4 (PubMed:16387653, PubMed:24065767). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:18794358). {ECO:0000269\|PubMed:14966270, ECO:0000269\|PubMed:16387653, ECO:0000269\|PubMed:18794358, ECO:0000269\|PubMed:24065767}.	FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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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Fusion Gene Sequence for MEAF6-PHF1

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 MEAF6-PHF1

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 MEAF6-PHF1

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 MEAF6-PHF1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source