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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:OTUD7B-HIST2H2BF (FusionGDB2 ID:61584)

Fusion Gene Summary for OTUD7B-HIST2H2BF

Fusion gene summary

Fusion gene information	Fusion gene name: OTUD7B-HIST2H2BF
	Fusion gene ID: 61584
		Hgene	Tgene
	Gene symbol	OTUD7B	HIST2H2BF
	Gene ID	56957	440689
	Gene name	OTU deubiquitinase 7B	H2B clustered histone 18
	Synonyms	CEZANNE\|ZA20D1	HIST2H2BF
	Cytomap	1q21.2	1q21.2
	Type of gene	protein-coding	protein-coding
	Description	OTU domain-containing protein 7BOTU domain containing 7Bcellular zinc finger anti-NF-kappa-B proteincellular zinc finger anti-NF-kappaB Cezannezinc finger A20 domain-containing protein 1zinc finger protein Cezannezinc finger, A20 domain containing 1	histone H2B type 2-Fhistone cluster 2 H2B family member fhistone cluster 2, H2bf
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000369135, ENST00000479905,	ENST00000545683, ENST00000427880, ENST00000469483, ENST00000369167,
Fusion gene scores	* DoF score	5 X 3 X 4=60	1 X 1 X 1=1
	# samples	5	1
	** MAII score	log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(1/1*10)=3.32192809488736
Context	PubMed: OTUD7B [Title/Abstract] AND HIST2H2BF [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	OTUD7B(149949361)-HIST2H2BF(149754816), # samples:2
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	OTUD7B	GO:0000122	negative regulation of transcription by RNA polymerase II	21097510
Hgene	OTUD7B	GO:0032717	negative regulation of interleukin-8 production	21097510
Hgene	OTUD7B	GO:0035871	protein K11-linked deubiquitination	20622874\|23827681
Hgene	OTUD7B	GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	11463333
Hgene	OTUD7B	GO:0070536	protein K63-linked deubiquitination	20622874
Hgene	OTUD7B	GO:0071108	protein K48-linked deubiquitination	21097510
Hgene	OTUD7B	GO:1900181	negative regulation of protein localization to nucleus	21097510

Fusion gene breakpoints across OTUD7B (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 HIST2H2BF (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
ChimerDB4	SKCM	TCGA-YD-A89C-06A	OTUD7B	chr1	149949361	-	HIST2H2BF	chr1	149754816	-
ChimerDB4	SKCM	TCGA-YD-A89C-06A	OTUD7B	chr1	149949361	-	HIST2H2BF	chr1	149754816	-

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Fusion Gene ORF analysis for OTUD7B-HIST2H2BF

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
In-frame	ENST00000369135	ENST00000545683	OTUD7B	chr1	149949361	-	HIST2H2BF	chr1	149754816	-
5CDS-intron	ENST00000369135	ENST00000427880	OTUD7B	chr1	149949361	-	HIST2H2BF	chr1	149754816	-
5CDS-intron	ENST00000369135	ENST00000469483	OTUD7B	chr1	149949361	-	HIST2H2BF	chr1	149754816	-
5CDS-intron	ENST00000369135	ENST00000369167	OTUD7B	chr1	149949361	-	HIST2H2BF	chr1	149754816	-
intron-3CDS	ENST00000479905	ENST00000545683	OTUD7B	chr1	149949361	-	HIST2H2BF	chr1	149754816	-
intron-intron	ENST00000479905	ENST00000427880	OTUD7B	chr1	149949361	-	HIST2H2BF	chr1	149754816	-
intron-intron	ENST00000479905	ENST00000469483	OTUD7B	chr1	149949361	-	HIST2H2BF	chr1	149754816	-
intron-intron	ENST00000479905	ENST00000369167	OTUD7B	chr1	149949361	-	HIST2H2BF	chr1	149754816	-

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)

ENST00000369135

OTUD7B

chr1

149949361

ENST00000545683

HIST2H2BF

chr1

149754816

952

380

581

841

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
ENST00000369135	ENST00000545683	OTUD7B	chr1	149949361	-	HIST2H2BF	chr1	149754816	-	0.6078299	0.39217007

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Fusion Genomic Features for OTUD7B-HIST2H2BF

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 OTUD7B-HIST2H2BF

Go to
FGviewer for the breakpoints of chr1:149949361-chr1:149754816
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

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

Hgene	Tgene
.	.
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

Hgene

OTUD7B

chr1:149949361

chr1:149754816

ENST00000369135

183_365

28.333333333333332

844.0

Domain

OTU

Hgene

OTUD7B

chr1:149949361

chr1:149754816

ENST00000369135

483_498

28.333333333333332

844.0

Motif

Nuclear localization signal

Hgene

OTUD7B

chr1:149949361

chr1:149754816

ENST00000369135

152_401

28.333333333333332

844.0

Region

Note=TRAF-binding

Hgene

OTUD7B

chr1:149949361

chr1:149754816

ENST00000369135

167_440

28.333333333333332

844.0

Region

Note=Catalytic

Hgene

OTUD7B

chr1:149949361

chr1:149754816

ENST00000369135

187_193

28.333333333333332

844.0

Region

Regulatory loop

Hgene

OTUD7B

chr1:149949361

chr1:149754816

ENST00000369135

796_831

28.333333333333332

844.0

Zinc finger

A20-type

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Fusion Gene Sequence for OTUD7B-HIST2H2BF

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.

>In-frame_ENST00000369135_ENST00000545683_TCGA-YD-A89C-06A_OTUD7B_chr1_149949361_-_HIST2H2BF_chr1_149754816_length(transcript)=952nt_BP=380nt
GGGCAAAAAGCCACTGGGGGAGGCCAGTCCCGATCAGTCCTTTCTGGCTCCAGCTCCAGATCCCGTGCGGAGCAACAGCTGCGGTCGCAG
TCTCCACCACCGCCTCCACCTCCATCGCCGTCGGGGGAGGGGCCGGCCGGACCCCGGGGTCACTGCCGAGGAATGAAGAGAGGCGGCCGG
GCCCCGCGCTCCGCCCCGGCCTAGGGCCTTGCCCCGGGAGCCCGCGAGGGTGGAGGCCTGAATTTTGATCTATGTTCTACCTACATCCAG
CTGGCTGAAAGTACTTGAGGATCACATGACCCTGGACATGGATGCTGTTCTGTCAGATTTTGTCCGTTCCACAGGAGCAGAGCCAGGGCT
AGCGCGAGATCTCCTAGAAGGTTAATAGGACCCATCCTTTGGAAGTAGGAAAGTGGCATAGAAGGAGAAGCTGAGTTAGAGATCACTCAC
CCACTTGCCCATCAACTGGAACTGCAAGAGATCAGAGAATAAAGATATCAGTTGGTCCAAGGAAAATAATGAGGAAGAGAGAATTGGGGA
GACAGAATTAATGTAGACTCTGAGGGATCAACTCAGATCTCTTGAGTTTCTATTTCTCTTTCTCAAAATCCAGTACTAACAGAACTGAAC
AAGCTACAGGTGGTTATCAAGGAAACTTCACTGCGGTGCGTCCAGGCTTAATGCTACCTCAGGGTTGCCCTTCCCATCCTTTTCATAAAA
TAAGCTCTAATAAACCATGGAAGCACAGATACAAGTTGCTTCATACTCATGAGTTCTACCCAGAGTTACCACAGGAAGACAAAACTCTTG
ACTCACAACAGCCACAGCCTGTACCCTTCTAACTGTCCCCTCTGAGTCCAACTTACCCCAAAGGAGCAGAGTTGTCAAGAACCACATGTT

>In-frame_ENST00000369135_ENST00000545683_TCGA-YD-A89C-06A_OTUD7B_chr1_149949361_-_HIST2H2BF_chr1_149754816_length(amino acids)=86AA_start in transcript=581_stop in transcript=841

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

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Fusion Gene PPI Analysis for OTUD7B-HIST2H2BF

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 OTUD7B-HIST2H2BF

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 OTUD7B-HIST2H2BF

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source