Home

Download

Statistics

Examples

Help

Contact

	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:PIGU-XRCC4 (FusionGDB2 ID:64908)

Fusion Gene Summary for PIGU-XRCC4

Fusion gene summary

Fusion gene information	Fusion gene name: PIGU-XRCC4
	Fusion gene ID: 64908
		Hgene	Tgene
	Gene symbol	PIGU	XRCC4
	Gene ID	128869	7518
	Gene name	phosphatidylinositol glycan anchor biosynthesis class U	X-ray repair cross complementing 4
	Synonyms	CDC91L1\|GAB1\|GPIBD21	SSMED
	Cytomap	20q11.22	5q14.2
	Type of gene	protein-coding	protein-coding
	Description	phosphatidylinositol glycan anchor biosynthesis class U proteinCDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1GPI transamidase component PIG-UGPI transamidase subunitcell division cycle 91-like 1 proteincell division cycle protein 91-li	DNA repair protein XRCC4X-ray repair complementing defective repair in Chinese hamster cells 4
	Modification date	20200322	20200320
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000374820, ENST00000452740, ENST00000480175,	ENST00000282268, ENST00000338635, ENST00000396027, ENST00000511817, ENST00000509268,
Fusion gene scores	* DoF score	18 X 13 X 10=2340	9 X 8 X 4=288
	# samples	20	9
	** MAII score	log2(20/2340*10)=-3.54843662469604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(9/288*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: PIGU [Title/Abstract] AND XRCC4 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	PIGU(33203846)-XRCC4(82554349), # samples:2
Anticipated loss of major functional domain due to fusion event.	PIGU-XRCC4 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. PIGU-XRCC4 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted 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
Hgene	PIGU	GO:0006506	GPI anchor biosynthetic process	15034568
Hgene	PIGU	GO:0046425	regulation of JAK-STAT cascade	15034568
Tgene	XRCC4	GO:0006302	double-strand break repair	9242410
Tgene	XRCC4	GO:0006303	double-strand break repair via nonhomologous end joining	12517771
Tgene	XRCC4	GO:0010165	response to X-ray	9242410
Tgene	XRCC4	GO:0051103	DNA ligation involved in DNA repair	12517771
Tgene	XRCC4	GO:0051351	positive regulation of ligase activity	9242410

Fusion gene breakpoints across PIGU (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 XRCC4 (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	BRCA	TCGA-A8-A07C-01A	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
ChimerDB4	BRCA	TCGA-A8-A07C-01A	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+

Top

Fusion Gene ORF analysis for PIGU-XRCC4

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
Frame-shift	ENST00000374820	ENST00000282268	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
Frame-shift	ENST00000374820	ENST00000338635	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
Frame-shift	ENST00000374820	ENST00000396027	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
Frame-shift	ENST00000374820	ENST00000511817	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
5CDS-3UTR	ENST00000374820	ENST00000509268	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
In-frame	ENST00000452740	ENST00000282268	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
In-frame	ENST00000452740	ENST00000338635	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
In-frame	ENST00000452740	ENST00000396027	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
In-frame	ENST00000452740	ENST00000511817	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
5CDS-3UTR	ENST00000452740	ENST00000509268	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
intron-3CDS	ENST00000480175	ENST00000282268	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
intron-3CDS	ENST00000480175	ENST00000338635	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
intron-3CDS	ENST00000480175	ENST00000396027	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
intron-3CDS	ENST00000480175	ENST00000511817	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+
intron-3UTR	ENST00000480175	ENST00000509268	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+

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)
ENST00000452740	PIGU	chr20	33203846	-	ENST00000282268	XRCC4	chr5	82554349	+	1403	627	0	635	211
ENST00000452740	PIGU	chr20	33203846	-	ENST00000338635	XRCC4	chr5	82554349	+	1362	627	0	635	211
ENST00000452740	PIGU	chr20	33203846	-	ENST00000396027	XRCC4	chr5	82554349	+	1356	627	0	635	211
ENST00000452740	PIGU	chr20	33203846	-	ENST00000511817	XRCC4	chr5	82554349	+	1438	627	0	635	211

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
ENST00000452740	ENST00000282268	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+	0.001043935	0.9989561
ENST00000452740	ENST00000338635	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+	0.000901827	0.9990982
ENST00000452740	ENST00000396027	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+	0.0010273	0.9989728
ENST00000452740	ENST00000511817	PIGU	chr20	33203846	-	XRCC4	chr5	82554349	+	0.000944073	0.9990559

Top

Fusion Genomic Features for PIGU-XRCC4

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)
PIGU	chr20	33203845	-	XRCC4	chr5	82554348	+	5.11E-08	1
PIGU	chr20	33203845	-	XRCC4	chr5	82554348	+	5.11E-08	1

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.

Top

Fusion Protein Features for PIGU-XRCC4

Go to
FGviewer for the breakpoints of chr20:33203846-chr5:82554349
.
- 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

Hgene

PIGU

chr20:33203846

chr5:82554349

ENST00000374820

166_186

189.0

416.0

Transmembrane

Helical

Hgene

PIGU

chr20:33203846

chr5:82554349

ENST00000374820

66_86

189.0

416.0

Transmembrane

Helical

- 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

PIGU

chr20:33203846

chr5:82554349

ENST00000374820

269_289

189.0

416.0

Region

Note=May be involved in recognition of long-chain fatty acids in GPI

Hgene

PIGU

chr20:33203846

chr5:82554349

ENST00000374820

188_208

189.0

416.0

Transmembrane

Helical

Hgene

PIGU

chr20:33203846

chr5:82554349

ENST00000374820

237_257

189.0

416.0

Transmembrane

Helical

Hgene

PIGU

chr20:33203846

chr5:82554349

ENST00000374820

259_279

189.0

416.0

Transmembrane

Helical

Hgene

PIGU

chr20:33203846

chr5:82554349

ENST00000374820

286_306

189.0

416.0

Transmembrane

Helical

Hgene

PIGU

chr20:33203846

chr5:82554349

ENST00000374820

313_333

189.0

416.0

Transmembrane

Helical

Hgene

PIGU

chr20:33203846

chr5:82554349

ENST00000374820

355_375

189.0

416.0

Transmembrane

Helical

Hgene

PIGU

chr20:33203846

chr5:82554349

ENST00000374820

386_406

189.0

416.0

Transmembrane

Helical

Tgene

XRCC4

chr20:33203846

chr5:82554349

ENST00000282268

131_165

248.33333333333334

335.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

XRCC4

chr20:33203846

chr5:82554349

ENST00000282268

184_212

248.33333333333334

335.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

XRCC4

chr20:33203846

chr5:82554349

ENST00000338635

131_165

248.33333333333334

337.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

XRCC4

chr20:33203846

chr5:82554349

ENST00000338635

184_212

248.33333333333334

337.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

XRCC4

chr20:33203846

chr5:82554349

ENST00000396027

131_165

248.33333333333334

335.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

XRCC4

chr20:33203846

chr5:82554349

ENST00000396027

184_212

248.33333333333334

335.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

XRCC4

chr20:33203846

chr5:82554349

ENST00000511817

131_165

248.33333333333334

337.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

XRCC4

chr20:33203846

chr5:82554349

ENST00000511817

184_212

248.33333333333334

337.0

Coiled coil

Ontology_term=ECO:0000255

Top

Fusion Gene Sequence for PIGU-XRCC4

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_ENST00000452740_ENST00000282268_TCGA-A8-A07C-01A_PIGU_chr20_33203846_-_XRCC4_chr5_82554349_length(transcript)=1403nt_BP=627nt
ATGGCGGCTCCCTTGGTCCTGGTGCTGGTGGTGGCTGTGACAGTGCGGGCGGCCTTGTTCCGCTCCAGTCTGGCCGAGTTCATTTCCGAG
CGGGTGGAGGTGGTGTCCCCACTGAGCTCTTGGAAGAGAGTGGTTGAAGGCCTTTCACTGTTGGACTTGGGAGTATCTCCGTATTCTGGA
GCAGTATTTCATGAAACTCCATTAATAATATACCTCTTTCATTTCCTAATTGACTATGCTGAATTGGTGTTTATGATAACTGATGCACTC
ACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGTTTAAAAAGCAGAAACTCCTCCTAGAACTGGACCAGTATGCC
CCAGATGTGGCCGAACTCATCCGGACCCCTATGGAAATGCGTTACATCCCTTTGAAAGTGGCCCTGTTCTATCTCTTAAATCCTTACACG
ATTTTGTCTTGTGTTGCCAAGTCTACCTGTGCCATCAACAACACCCTCATTGCTTTCTTCATTTTGACTACGATAAAAGGCAGTGCTTTC
CTCAGTGCTATTTTTCTTGCCTTAGCGACATACCAGTCTCTGTACCCACTCACCTTGTTTGTCCCAGGACTCCTCTATCTCCTCCAGCTG
CTGTAAGTAAAGATGATTCCATTATTTCAAGTCTTGATGTCACTGATATTGCACCAAGTAGAAAAAGGAGACAGCGAATGCAAAGAAATC
TTGGGACAGAACCTAAAATGGCTCCTCAGGAGAATCAGCTTCAAGAAAAGGAAAAGCCTGATTCTTCACTACCTGAGACGTCTAAAAAGG
AGCACATCTCAGCTGAAAACATGTCTTTAGAAACTCTGAGAAACAGCAGCCCAGAAGACCTCTTTGATGAGATTTAACAGTCTCAAAAAA
TACTTTGATGTTCACTAGACTATGTTTTCTATTCATTTCTTTAAAATGAAAAAGGAGAATTTCAAGTCAGCAGCCGCTATTACCGTATCT
TACAATTTAATTACATACACAGTGAATTGAAACCATTGTGCAAAATGGATTACACATGTATACAAAGATACGATTTGATGATGACACTGG
CACATTATTCTAAACTATTCATTCAGCATGCCTATAATTACATAAATTGTATGAGACTTTTTGTTGCAAAGGACACATTTATCATATTCA
TTCACACATATTATATGTGATAGCTGTCCAACATCCTGTCTGGGAAGATTTTGAAAACAGGACAAAGAAAACATCATTTTAAAATGTCTT
CAGCTTTTTTTGAATAGACGTATTCAAACATATTCTGAACATTGATGTTTGAACATTTTAATTTGTGTGATGATGTAGAAAATATAATTT

>In-frame_ENST00000452740_ENST00000282268_TCGA-A8-A07C-01A_PIGU_chr20_33203846_-_XRCC4_chr5_82554349_length(amino acids)=211AA_start in transcript=0_stop in transcript=635
MAAPLVLVLVVAVTVRAALFRSSLAEFISERVEVVSPLSSWKRVVEGLSLLDLGVSPYSGAVFHETPLIIYLFHFLIDYAELVFMITDAL
TAIALYFAIQDFNKVVFKKQKLLLELDQYAPDVAELIRTPMEMRYIPLKVALFYLLNPYTILSCVAKSTCAINNTLIAFFILTTIKGSAF

--------------------------------------------------------------
>In-frame_ENST00000452740_ENST00000338635_TCGA-A8-A07C-01A_PIGU_chr20_33203846_-_XRCC4_chr5_82554349_length(transcript)=1362nt_BP=627nt
ATGGCGGCTCCCTTGGTCCTGGTGCTGGTGGTGGCTGTGACAGTGCGGGCGGCCTTGTTCCGCTCCAGTCTGGCCGAGTTCATTTCCGAG
CGGGTGGAGGTGGTGTCCCCACTGAGCTCTTGGAAGAGAGTGGTTGAAGGCCTTTCACTGTTGGACTTGGGAGTATCTCCGTATTCTGGA
GCAGTATTTCATGAAACTCCATTAATAATATACCTCTTTCATTTCCTAATTGACTATGCTGAATTGGTGTTTATGATAACTGATGCACTC
ACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGTTTAAAAAGCAGAAACTCCTCCTAGAACTGGACCAGTATGCC
CCAGATGTGGCCGAACTCATCCGGACCCCTATGGAAATGCGTTACATCCCTTTGAAAGTGGCCCTGTTCTATCTCTTAAATCCTTACACG
ATTTTGTCTTGTGTTGCCAAGTCTACCTGTGCCATCAACAACACCCTCATTGCTTTCTTCATTTTGACTACGATAAAAGGCAGTGCTTTC
CTCAGTGCTATTTTTCTTGCCTTAGCGACATACCAGTCTCTGTACCCACTCACCTTGTTTGTCCCAGGACTCCTCTATCTCCTCCAGCTG
CTGTAAGTAAAGATGATTCCATTATTTCAAGTCTTGATGTCACTGATATTGCACCAAGTAGAAAAAGGAGACAGCGAATGCAAAGAAATC
TTGGGACAGAACCTAAAATGGCTCCTCAGGAGAATCAGCTTCAAGAAAAGGAAAATTCTAGGCCTGATTCTTCACTACCTGAGACGTCTA
AAAAGGAGCACATCTCAGCTGAAAACATGTCTTTAGAAACTCTGAGAAACAGCAGCCCAGAAGACCTCTTTGATGAGATTTAACAGTCTC
AAAAAATACTTTGATGTTCACTAGACTATGTTTTCTATTCATTTCTTTAAAATGAAAAAGGAGAATTTCAAGTCAGCAGCCGCTATTACC
GTATCTTACAATTTAATTACATACACAGTGAATTGAAACCATTGTGCAAAATGGATTACACATGTATACAAAGATACGATTTGATGATGA
CACTGGCACATTATTCTAAACTATTCATTCAGCATGCCTATAATTACATAAATTGTATGAGACTTTTTGTTGCAAAGGACACATTTATCA
TATTCATTCACACATATTATATGTGATAGCTGTCCAACATCCTGTCTGGGAAGATTTTGAAAACAGGACAAAGAAAACATCATTTTAAAA
TGTCTTCAGCTTTTTTTGAATAGACGTATTCAAACATATTCTGAACATTGATGTTTGAACATTTTAATTTGTGTGATGATGTAGAAAATA

>In-frame_ENST00000452740_ENST00000338635_TCGA-A8-A07C-01A_PIGU_chr20_33203846_-_XRCC4_chr5_82554349_length(amino acids)=211AA_start in transcript=0_stop in transcript=635
MAAPLVLVLVVAVTVRAALFRSSLAEFISERVEVVSPLSSWKRVVEGLSLLDLGVSPYSGAVFHETPLIIYLFHFLIDYAELVFMITDAL
TAIALYFAIQDFNKVVFKKQKLLLELDQYAPDVAELIRTPMEMRYIPLKVALFYLLNPYTILSCVAKSTCAINNTLIAFFILTTIKGSAF

--------------------------------------------------------------
>In-frame_ENST00000452740_ENST00000396027_TCGA-A8-A07C-01A_PIGU_chr20_33203846_-_XRCC4_chr5_82554349_length(transcript)=1356nt_BP=627nt
ATGGCGGCTCCCTTGGTCCTGGTGCTGGTGGTGGCTGTGACAGTGCGGGCGGCCTTGTTCCGCTCCAGTCTGGCCGAGTTCATTTCCGAG
CGGGTGGAGGTGGTGTCCCCACTGAGCTCTTGGAAGAGAGTGGTTGAAGGCCTTTCACTGTTGGACTTGGGAGTATCTCCGTATTCTGGA
GCAGTATTTCATGAAACTCCATTAATAATATACCTCTTTCATTTCCTAATTGACTATGCTGAATTGGTGTTTATGATAACTGATGCACTC
ACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGTTTAAAAAGCAGAAACTCCTCCTAGAACTGGACCAGTATGCC
CCAGATGTGGCCGAACTCATCCGGACCCCTATGGAAATGCGTTACATCCCTTTGAAAGTGGCCCTGTTCTATCTCTTAAATCCTTACACG
ATTTTGTCTTGTGTTGCCAAGTCTACCTGTGCCATCAACAACACCCTCATTGCTTTCTTCATTTTGACTACGATAAAAGGCAGTGCTTTC
CTCAGTGCTATTTTTCTTGCCTTAGCGACATACCAGTCTCTGTACCCACTCACCTTGTTTGTCCCAGGACTCCTCTATCTCCTCCAGCTG
CTGTAAGTAAAGATGATTCCATTATTTCAAGTCTTGATGTCACTGATATTGCACCAAGTAGAAAAAGGAGACAGCGAATGCAAAGAAATC
TTGGGACAGAACCTAAAATGGCTCCTCAGGAGAATCAGCTTCAAGAAAAGGAAAAGCCTGATTCTTCACTACCTGAGACGTCTAAAAAGG
AGCACATCTCAGCTGAAAACATGTCTTTAGAAACTCTGAGAAACAGCAGCCCAGAAGACCTCTTTGATGAGATTTAACAGTCTCAAAAAA
TACTTTGATGTTCACTAGACTATGTTTTCTATTCATTTCTTTAAAATGAAAAAGGAGAATTTCAAGTCAGCAGCCGCTATTACCGTATCT
TACAATTTAATTACATACACAGTGAATTGAAACCATTGTGCAAAATGGATTACACATGTATACAAAGATACGATTTGATGATGACACTGG
CACATTATTCTAAACTATTCATTCAGCATGCCTATAATTACATAAATTGTATGAGACTTTTTGTTGCAAAGGACACATTTATCATATTCA
TTCACACATATTATATGTGATAGCTGTCCAACATCCTGTCTGGGAAGATTTTGAAAACAGGACAAAGAAAACATCATTTTAAAATGTCTT
CAGCTTTTTTTGAATAGACGTATTCAAACATATTCTGAACATTGATGTTTGAACATTTTAATTTGTGTGATGATGTAGAAAATATAATTT

>In-frame_ENST00000452740_ENST00000396027_TCGA-A8-A07C-01A_PIGU_chr20_33203846_-_XRCC4_chr5_82554349_length(amino acids)=211AA_start in transcript=0_stop in transcript=635
MAAPLVLVLVVAVTVRAALFRSSLAEFISERVEVVSPLSSWKRVVEGLSLLDLGVSPYSGAVFHETPLIIYLFHFLIDYAELVFMITDAL
TAIALYFAIQDFNKVVFKKQKLLLELDQYAPDVAELIRTPMEMRYIPLKVALFYLLNPYTILSCVAKSTCAINNTLIAFFILTTIKGSAF

--------------------------------------------------------------
>In-frame_ENST00000452740_ENST00000511817_TCGA-A8-A07C-01A_PIGU_chr20_33203846_-_XRCC4_chr5_82554349_length(transcript)=1438nt_BP=627nt
ATGGCGGCTCCCTTGGTCCTGGTGCTGGTGGTGGCTGTGACAGTGCGGGCGGCCTTGTTCCGCTCCAGTCTGGCCGAGTTCATTTCCGAG
CGGGTGGAGGTGGTGTCCCCACTGAGCTCTTGGAAGAGAGTGGTTGAAGGCCTTTCACTGTTGGACTTGGGAGTATCTCCGTATTCTGGA
GCAGTATTTCATGAAACTCCATTAATAATATACCTCTTTCATTTCCTAATTGACTATGCTGAATTGGTGTTTATGATAACTGATGCACTC
ACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGTTTAAAAAGCAGAAACTCCTCCTAGAACTGGACCAGTATGCC
CCAGATGTGGCCGAACTCATCCGGACCCCTATGGAAATGCGTTACATCCCTTTGAAAGTGGCCCTGTTCTATCTCTTAAATCCTTACACG
ATTTTGTCTTGTGTTGCCAAGTCTACCTGTGCCATCAACAACACCCTCATTGCTTTCTTCATTTTGACTACGATAAAAGGCAGTGCTTTC
CTCAGTGCTATTTTTCTTGCCTTAGCGACATACCAGTCTCTGTACCCACTCACCTTGTTTGTCCCAGGACTCCTCTATCTCCTCCAGCTG
CTGTAAGTAAAGATGATTCCATTATTTCAAGTCTTGATGTCACTGATATTGCACCAAGTAGAAAAAGGAGACAGCGAATGCAAAGAAATC
TTGGGACAGAACCTAAAATGGCTCCTCAGGAGAATCAGCTTCAAGAAAAGGAAAATTCTAGGCCTGATTCTTCACTACCTGAGACGTCTA
AAAAGGAGCACATCTCAGCTGAAAACATGTCTTTAGAAACTCTGAGAAACAGCAGCCCAGAAGACCTCTTTGATGAGATTTAACAGTCTC
AAAAAATACTTTGATGTTCACTAGACTATGTTTTCTATTCATTTCTTTAAAATGAAAAAGGAGAATTTCAAGTCAGCAGCCGCTATTACC
GTATCTTACAATTTAATTACATACACAGTGAATTGAAACCATTGTGCAAAATGGATTACACATGTATACAAAGATACGATTTGATGATGA
CACTGGCACATTATTCTAAACTATTCATTCAGCATGCCTATAATTACATAAATTGTATGAGACTTTTTGTTGCAAAGGACACATTTATCA
TATTCATTCACACATATTATATGTGATAGCTGTCCAACATCCTGTCTGGGAAGATTTTGAAAACAGGACAAAGAAAACATCATTTTAAAA
TGTCTTCAGCTTTTTTTGAATAGACGTATTCAAACATATTCTGAACATTGATGTTTGAACATTTTAATTTGTGTGATGATGTAGAAAATA

>In-frame_ENST00000452740_ENST00000511817_TCGA-A8-A07C-01A_PIGU_chr20_33203846_-_XRCC4_chr5_82554349_length(amino acids)=211AA_start in transcript=0_stop in transcript=635
MAAPLVLVLVVAVTVRAALFRSSLAEFISERVEVVSPLSSWKRVVEGLSLLDLGVSPYSGAVFHETPLIIYLFHFLIDYAELVFMITDAL
TAIALYFAIQDFNKVVFKKQKLLLELDQYAPDVAELIRTPMEMRYIPLKVALFYLLNPYTILSCVAKSTCAINNTLIAFFILTTIKGSAF

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

Top

Fusion Gene PPI Analysis for PIGU-XRCC4

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
Tgene	XRCC4	chr20:33203846	chr5:82554349	ENST00000282268		5	8	1_213	248.33333333333334	335.0	IFFO1
Tgene	XRCC4	chr20:33203846	chr5:82554349	ENST00000338635		5	8	1_213	248.33333333333334	337.0	IFFO1
Tgene	XRCC4	chr20:33203846	chr5:82554349	ENST00000396027		5	8	1_213	248.33333333333334	335.0	IFFO1
Tgene	XRCC4	chr20:33203846	chr5:82554349	ENST00000511817		5	8	1_213	248.33333333333334	337.0	IFFO1
Tgene	XRCC4	chr20:33203846	chr5:82554349	ENST00000282268		5	8	180_213	248.33333333333334	335.0	LIG4
Tgene	XRCC4	chr20:33203846	chr5:82554349	ENST00000338635		5	8	180_213	248.33333333333334	337.0	LIG4
Tgene	XRCC4	chr20:33203846	chr5:82554349	ENST00000396027		5	8	180_213	248.33333333333334	335.0	LIG4
Tgene	XRCC4	chr20:33203846	chr5:82554349	ENST00000511817		5	8	180_213	248.33333333333334	337.0	LIG4

- 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

Top

Related Drugs for PIGU-XRCC4

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

Top

Related Diseases for PIGU-XRCC4

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	PIGU	C0036439	Scoliosis, unspecified	1	GENOMICS_ENGLAND
Hgene	PIGU	C0036572	Seizures	1	GENOMICS_ENGLAND
Hgene	PIGU	C0235946	Cerebral atrophy	1	GENOMICS_ENGLAND
Hgene	PIGU	C0266470	Cerebellar Hypoplasia	1	GENOMICS_ENGLAND
Hgene	PIGU	C0557874	Global developmental delay	1	GENOMICS_ENGLAND
Hgene	PIGU	C3714756	Intellectual Disability	1	GENOMICS_ENGLAND
Hgene	PIGU	C4023501	Focal myoclonic seizures	1	GENOMICS_ENGLAND
Hgene	PIGU	C4317123	Myoclonic Seizures	1	GENOMICS_ENGLAND
Tgene	XRCC4	C4225288	SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION	5	GENOMICS_ENGLAND;UNIPROT
Tgene	XRCC4	C0004403	Autosome Abnormalities	1	CTD_human
Tgene	XRCC4	C0008625	Chromosome Aberrations	1	CTD_human
Tgene	XRCC4	C0009405	Hereditary Nonpolyposis Colorectal Neoplasms	1	CLINGEN
Tgene	XRCC4	C0013336	Dwarfism	1	GENOMICS_ENGLAND
Tgene	XRCC4	C0036341	Schizophrenia	1	PSYGENET
Tgene	XRCC4	C0265202	Seckel syndrome	1	GENOMICS_ENGLAND
Tgene	XRCC4	C0342573	PITUITARY DWARFISM I	1	GENOMICS_ENGLAND
Tgene	XRCC4	C1112155	Hereditary non-polyposis colorectal cancer syndrome	1	CLINGEN
Tgene	XRCC4	C1292778	Chronic myeloproliferative disorder	1	GENOMICS_ENGLAND
Tgene	XRCC4	C1333990	Hereditary Nonpolyposis Colorectal Cancer	1	CLINGEN
Tgene	XRCC4	C1333991	Hereditary Non-Polyposis Colon Cancer Type 2	1	CLINGEN
Tgene	XRCC4	C1847827	LIG4 Syndrome	1	ORPHANET
Tgene	XRCC4	C2936783	Colorectal cancer, hereditary nonpolyposis, type 1	1	CLINGEN
Tgene	XRCC4	C3808988	FANCONI ANEMIA, COMPLEMENTATION GROUP Q	1	GENOMICS_ENGLAND