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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:PLEKHH1-RAD51B

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: PLEKHH1-RAD51B
	FusionPDB ID: 66291
	FusionGDB2.0 ID: 66291
		Hgene	Tgene
	Gene symbol	PLEKHH1	RAD51B
	Gene ID	57475	5890
	Gene name	pleckstrin homology, MyTH4 and FERM domain containing H1	RAD51 paralog B
	Synonyms	-	R51H2\|RAD51L1\|REC2
	Cytomap	14q24.1	14q24.1
	Type of gene	protein-coding	protein-coding
	Description	pleckstrin homology domain-containing family H member 1PH domain-containing family H member 1pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	DNA repair protein RAD51 homolog 2RAD51 homolog BRecA-like proteinrecombination repair protein
	Modification date	20200313	20200313
	UniProtAcc	.	O15315
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000329153, ENST00000417684, ENST00000559832,	ENST00000469165, ENST00000390683, ENST00000471583, ENST00000487270, ENST00000487861, ENST00000488612,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	9 X 8 X 4=288	41 X 23 X 12=11316
	# samples	11	56
	** MAII score	log2(11/288*10)=-1.38856528791765 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(56/11316*10)=-4.33679344445129 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: PLEKHH1 [Title/Abstract] AND RAD51B [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	PLEKHH1(68026408)-RAD51B(68758601), # samples:1
Anticipated loss of major functional domain due to fusion event.	PLEKHH1-RAD51B 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. PLEKHH1-RAD51B 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.

* 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

Fusion gene breakpoints across PLEKHH1 (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 RAD51B (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	STAD	TCGA-BR-8060-01A	PLEKHH1	chr14	68026408	+	RAD51B	chr14	68758601	+

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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)

ENST00000329153

PLEKHH1

chr14

68026408

ENST00000487861

RAD51B

chr14

68758601

1395

555

1076

348

ENST00000329153

PLEKHH1

chr14

68026408

ENST00000471583

RAD51B

chr14

68758601

1287

555

851

273

ENST00000329153

PLEKHH1

chr14

68026408

ENST00000487270

RAD51B

chr14

68758601

2347

555

953

307

ENST00000329153

PLEKHH1

chr14

68026408

ENST00000488612

RAD51B

chr14

68758601

1322

555

899

289

ENST00000329153

PLEKHH1

chr14

68026408

ENST00000390683

RAD51B

chr14

68758601

900

555

899

289

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
ENST00000329153	ENST00000487861	PLEKHH1	chr14	68026408	+	RAD51B	chr14	68758601	+	0.009214828	0.9907851
ENST00000329153	ENST00000471583	PLEKHH1	chr14	68026408	+	RAD51B	chr14	68758601	+	0.004482255	0.9955178
ENST00000329153	ENST00000487270	PLEKHH1	chr14	68026408	+	RAD51B	chr14	68758601	+	0.004897644	0.9951023
ENST00000329153	ENST00000488612	PLEKHH1	chr14	68026408	+	RAD51B	chr14	68758601	+	0.008281449	0.99171853
ENST00000329153	ENST00000390683	PLEKHH1	chr14	68026408	+	RAD51B	chr14	68758601	+	0.008120483	0.9918795

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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

>66291_66291_1_PLEKHH1-RAD51B_PLEKHH1_chr14_68026408_ENST00000329153_RAD51B_chr14_68758601_ENST00000390683_length(amino acids)=289AA_BP=1
MRRRPEGARVPSARRGRPRARWRAPQNNPEVDSIMAELKVEAPASVDWQKRCLTLETQLFRFRLQASKIRELLADKMQELEQRLLEAEQR
AENAETQVGVMEEKVKLSNLKNVDSEGSLHRKYQELLKAIKGKDELISQLEAQLEKQKQMRAEEAKTVQEKAAKIKEWVTLKLAKVILTN
QITTHLSGALASQADLVSPADDLSLSEGTSGSSCVIAALGNTWSHSVNTRLILQYLDSERRQILIAKSPLAPFTSFVYTIKEEGLVLQEF

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

>66291_66291_2_PLEKHH1-RAD51B_PLEKHH1_chr14_68026408_ENST00000329153_RAD51B_chr14_68758601_ENST00000471583_length(amino acids)=273AA_BP=1
MRRRPEGARVPSARRGRPRARWRAPQNNPEVDSIMAELKVEAPASVDWQKRCLTLETQLFRFRLQASKIRELLADKMQELEQRLLEAEQR
AENAETQVGVMEEKVKLSNLKNVDSEGSLHRKYQELLKAIKGKDELISQLEAQLEKQKQMRAEEAKTVQEKAAKIKEWVTLKLAKVILTN
QITTHLSGALASQADLVSPADDLSLSEGTSGSSCVIAALGNTWSHSVNTRLILQYLDSERRQILIAKSPLAPFTSFVYTIKEEGLVLQGQ

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

>66291_66291_3_PLEKHH1-RAD51B_PLEKHH1_chr14_68026408_ENST00000329153_RAD51B_chr14_68758601_ENST00000487270_length(amino acids)=307AA_BP=1
MRRRPEGARVPSARRGRPRARWRAPQNNPEVDSIMAELKVEAPASVDWQKRCLTLETQLFRFRLQASKIRELLADKMQELEQRLLEAEQR
AENAETQVGVMEEKVKLSNLKNVDSEGSLHRKYQELLKAIKGKDELISQLEAQLEKQKQMRAEEAKTVQEKAAKIKEWVTLKLAKVILTN
QITTHLSGALASQADLVSPADDLSLSEGTSGSSCVIAALGNTWSHSVNTRLILQYLDSERRQILIAKSPLAPFTSFVYTIKEEGLVLQET

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

>66291_66291_4_PLEKHH1-RAD51B_PLEKHH1_chr14_68026408_ENST00000329153_RAD51B_chr14_68758601_ENST00000487861_length(amino acids)=348AA_BP=1
MRRRPEGARVPSARRGRPRARWRAPQNNPEVDSIMAELKVEAPASVDWQKRCLTLETQLFRFRLQASKIRELLADKMQELEQRLLEAEQR
AENAETQVGVMEEKVKLSNLKNVDSEGSLHRKYQELLKAIKGKDELISQLEAQLEKQKQMRAEEAKTVQEKAAKIKEWVTLKLAKVILTN
QITTHLSGALASQADLVSPADDLSLSEGTSGSSCVIAALGNTWSHSVNTRLILQYLDSERRQILIAKSPLAPFTSFVYTIKEEGLVLQVV

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

>66291_66291_5_PLEKHH1-RAD51B_PLEKHH1_chr14_68026408_ENST00000329153_RAD51B_chr14_68758601_ENST00000488612_length(amino acids)=289AA_BP=1
MRRRPEGARVPSARRGRPRARWRAPQNNPEVDSIMAELKVEAPASVDWQKRCLTLETQLFRFRLQASKIRELLADKMQELEQRLLEAEQR
AENAETQVGVMEEKVKLSNLKNVDSEGSLHRKYQELLKAIKGKDELISQLEAQLEKQKQMRAEEAKTVQEKAAKIKEWVTLKLAKVILTN
QITTHLSGALASQADLVSPADDLSLSEGTSGSSCVIAALGNTWSHSVNTRLILQYLDSERRQILIAKSPLAPFTSFVYTIKEEGLVLQEF

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

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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/chr14:68026408/chr14:68758601)
- 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
.	RAD51B O15315
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: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. {ECO:0000269\|PubMed:11751635, ECO:0000269\|PubMed:11751636, ECO:0000269\|PubMed:11842113, ECO:0000269\|PubMed:12441335, ECO:0000269\|PubMed:23108668, ECO:0000269\|PubMed:23149936}.

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

PLEKHH1

chr14:68026408

chr14:68758601

ENST00000329153

28_169

141.0

1365.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

PLEKHH1

chr14:68026408

chr14:68758601

ENST00000329153

239_242

141.0

1365.0

Compositional bias

Note=Poly-Ser

Hgene

PLEKHH1

chr14:68026408

chr14:68758601

ENST00000329153

578_672

141.0

1365.0

Domain

PH 1

Hgene

PLEKHH1

chr14:68026408

chr14:68758601

ENST00000329153

687_796

141.0

1365.0

Domain

PH 2

Hgene

PLEKHH1

chr14:68026408

chr14:68758601

ENST00000329153

832_986

141.0

1365.0

Domain

MyTH4

Hgene

PLEKHH1

chr14:68026408

chr14:68758601

ENST00000329153

997_1333

141.0

1365.0

Domain

FERM

Tgene

RAD51B

chr14:68026408

chr14:68758601

ENST00000390683

108_115

252.0

367.0

Nucleotide binding

ATP

Tgene

RAD51B

chr14:68026408

chr14:68758601

ENST00000471583

108_115

252.0

351.0

Nucleotide binding

ATP

Tgene

RAD51B

chr14:68026408

chr14:68758601

ENST00000487270

108_115

252.0

385.0

Nucleotide binding

ATP

Tgene

RAD51B

chr14:68026408

chr14:68758601

ENST00000488612

108_115

252.0

495.6666666666667

Nucleotide binding

ATP

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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
RAD51B	RAD51, RAD51C, RAD51D, XRCC2, SWSAP1, FAM9B, DKKL1, ARL4C, MUC20, ADAMTS4, HELQ, HNRNPL, SPDL1, BRCA1, TPT1, ABL1, MEOX2, RPAIN, ANAPC5, BAGE2, C15orf39, PRPF6, C5orf34, N4BP2L2, BANP, ANKHD1-EIF4EBP3, KLRC2, DSCC1, SATB2, ZNHIT6, PMS1, NUF2, APAF1, PRKACB, MAPRE2, CD300LB, PRKACG, TBC1D2B, MTR,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
PLEKHH1
RAD51B

- 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
Tgene	RAD51B	chr14:68026408	chr14:68758601	ENST00000390683		5	10	1_75	252.0	367.0	RAD51C
Tgene	RAD51B	chr14:68026408	chr14:68758601	ENST00000471583		6	11	1_75	252.0	351.0	RAD51C
Tgene	RAD51B	chr14:68026408	chr14:68758601	ENST00000487270		6	11	1_75	252.0	385.0	RAD51C
Tgene	RAD51B	chr14:68026408	chr14:68758601	ENST00000488612		6	12	1_75	252.0	495.6666666666667	RAD51C

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Related Drugs to PLEKHH1-RAD51B

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 PLEKHH1-RAD51B

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
Tgene	RAD51B	C0006142	Malignant neoplasm of breast	1	CTD_human
Tgene	RAD51B	C0013146	Drug abuse	1	CTD_human
Tgene	RAD51B	C0013170	Drug habituation	1	CTD_human
Tgene	RAD51B	C0013222	Drug Use Disorders	1	CTD_human
Tgene	RAD51B	C0029231	Organic Mental Disorders, Substance-Induced	1	CTD_human
Tgene	RAD51B	C0038580	Substance Dependence	1	CTD_human
Tgene	RAD51B	C0038586	Substance Use Disorders	1	CTD_human
Tgene	RAD51B	C0236969	Substance-Related Disorders	1	CTD_human
Tgene	RAD51B	C0238033	Carcinoma of Male Breast	1	CTD_human
Tgene	RAD51B	C0242788	Breast Neoplasms, Male	1	CTD_human
Tgene	RAD51B	C0678222	Breast Carcinoma	1	CTD_human
Tgene	RAD51B	C0740858	Substance abuse problem	1	CTD_human
Tgene	RAD51B	C1257931	Mammary Neoplasms, Human	1	CTD_human
Tgene	RAD51B	C1458155	Mammary Neoplasms	1	CTD_human
Tgene	RAD51B	C1510472	Drug Dependence	1	CTD_human
Tgene	RAD51B	C4316881	Prescription Drug Abuse	1	CTD_human
Tgene	RAD51B	C4704874	Mammary Carcinoma, Human	1	CTD_human