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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:COL4A5-PAFAH1B1 (FusionGDB2 ID:18374)

Fusion Gene Summary for COL4A5-PAFAH1B1

Fusion gene summary

Fusion gene information	Fusion gene name: COL4A5-PAFAH1B1
	Fusion gene ID: 18374
		Hgene	Tgene
	Gene symbol	COL4A5	PAFAH1B1
	Gene ID	1287	5048
	Gene name	collagen type IV alpha 5 chain	platelet activating factor acetylhydrolase 1b regulatory subunit 1
	Synonyms	ASLN\|ATS\|ATS1\|CA54	LIS1\|LIS2\|MDCR\|MDS\|NudF\|PAFAH
	Cytomap	Xq22.3	17p13.3
	Type of gene	protein-coding	protein-coding
	Description	collagen alpha-5(IV) chaincollagen IV, alpha-5 polypeptidecollagen of basement membrane, alpha-5 chaincollagen, type IV, alpha 5dA149D17.3dA24A23.1	platelet-activating factor acetylhydrolase IB subunit alphalissencephaly 1 proteinplatelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)platelet-activatin
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000328300, ENST00000361603, ENST00000477429,	ENST00000451360, ENST00000572915, ENST00000397195,
Fusion gene scores	* DoF score	12 X 9 X 6=648	18 X 14 X 8=2016
	# samples	12	18
	** MAII score	log2(12/648*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(18/2016*10)=-3.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: COL4A5 [Title/Abstract] AND PAFAH1B1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	COL4A5(107840798)-PAFAH1B1(2585023), # 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	PAFAH1B1	GO:0007017	microtubule-based process	11940666

Fusion gene breakpoints across COL4A5 (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 PAFAH1B1 (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	GBM	TCGA-06-0190-01A	COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585023	+

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Fusion Gene ORF analysis for COL4A5-PAFAH1B1

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-intron	ENST00000328300	ENST00000451360	COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585023	+
5CDS-intron	ENST00000328300	ENST00000572915	COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585023	+
5CDS-intron	ENST00000361603	ENST00000451360	COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585023	+
5CDS-intron	ENST00000361603	ENST00000572915	COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585023	+
In-frame	ENST00000328300	ENST00000397195	COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585023	+
In-frame	ENST00000361603	ENST00000397195	COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585023	+
intron-3CDS	ENST00000477429	ENST00000397195	COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585023	+
intron-intron	ENST00000477429	ENST00000451360	COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585023	+
intron-intron	ENST00000477429	ENST00000572915	COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585023	+

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)

ENST00000328300

COL4A5

chrX

107840798

ENST00000397195

PAFAH1B1

chr17

2585023

5910

2023

244

2064

606

ENST00000361603

COL4A5

chrX

107840798

ENST00000397195

PAFAH1B1

chr17

2585023

5910

2023

244

2064

606

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
ENST00000328300	ENST00000397195	COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585023	+	0.000732145	0.9992679
ENST00000361603	ENST00000397195	COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585023	+	0.000732145	0.9992679

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Fusion Genomic Features for COL4A5-PAFAH1B1

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)
COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585022	+	4.81E-07	0.9999995
COL4A5	chrX	107840798	+	PAFAH1B1	chr17	2585022	+	4.81E-07	0.9999995

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 COL4A5-PAFAH1B1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chrX:107840798/chr17:2585023)
- 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
.	.
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}.	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

Hgene

COL4A5

chrX:107840798

chr17:2585023

ENST00000328300

27_41

593

1692.0

Region

Note=Nonhelical region (NC2)

Hgene

COL4A5

chrX:107840798

chr17:2585023

ENST00000361603

27_41

593

1686.0

Region

Note=Nonhelical region (NC2)

- 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

COL4A5

chrX:107840798

chr17:2585023

ENST00000328300

1461_1685

593

1692.0

Domain

Collagen IV NC1

Hgene

COL4A5

chrX:107840798

chr17:2585023

ENST00000361603

1461_1685

593

1686.0

Domain

Collagen IV NC1

Hgene

COL4A5

chrX:107840798

chr17:2585023

ENST00000328300

42_1456

593

1692.0

Region

Note=Triple-helical region

Hgene

COL4A5

chrX:107840798

chr17:2585023

ENST00000361603

42_1456

593

1686.0

Region

Note=Triple-helical region

Tgene

PAFAH1B1

chrX:107840798

chr17:2585023

ENST00000397195

56_82

386

411.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

PAFAH1B1

chrX:107840798

chr17:2585023

ENST00000397195

7_39

386

411.0

Domain

LisH

Tgene

PAFAH1B1

chrX:107840798

chr17:2585023

ENST00000397195

106_147

386

411.0

Repeat

Note=WD 1

Tgene

PAFAH1B1

chrX:107840798

chr17:2585023

ENST00000397195

148_187

386

411.0

Repeat

Note=WD 2

Tgene

PAFAH1B1

chrX:107840798

chr17:2585023

ENST00000397195

190_229

386

411.0

Repeat

Note=WD 3

Tgene

PAFAH1B1

chrX:107840798

chr17:2585023

ENST00000397195

232_271

386

411.0

Repeat

Note=WD 4

Tgene

PAFAH1B1

chrX:107840798

chr17:2585023

ENST00000397195

274_333

386

411.0

Repeat

Note=WD 5

Tgene

PAFAH1B1

chrX:107840798

chr17:2585023

ENST00000397195

336_377

386

411.0

Repeat

Note=WD 6

Tgene

PAFAH1B1

chrX:107840798

chr17:2585023

ENST00000397195

378_410

386

411.0

Repeat

Note=WD 7

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Fusion Gene Sequence for COL4A5-PAFAH1B1

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.

>18374_18374_1_COL4A5-PAFAH1B1_COL4A5_chrX_107840798_ENST00000328300_PAFAH1B1_chr17_2585023_ENST00000397195_length(transcript)=5910nt_BP=2023nt
AGAAGGGAAAAGTTCTCCTGAGAGACCGGCTTTGGGGAGGGGAGGGGGGAAGGAAGAGTAGCTCCTTCTTCTTCTTCTTTTTTTTTTCTT
CCACTCTTAAAAAGCTTCTTTCTCTTCACCCAAGCCTCACTGTCCCTCTCCGGCTCTAGCTCTCTCCATATAAACCCTCAAGATTATGTC
AATTGGTTAGAGCCAGCCGGGAATTTCGTGCGGGTGCTGAAGGAGCTGCGGGAGCCGGAGAAGAATGAAACTGCGTGGAGTCAGCCTGGC
TGCCGGCTTGTTCTTACTGGCCCTGAGTCTTTGGGGGCAGCCTGCAGAGGCTGCGGCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGA
CTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGG
GCCTCCGGGGCCTCGGGGACAAAAGGGTGATGATGGAATTCCAGGGCCACCAGGACCAAAAGGAATCAGAGGTCCTCCTGGACTTCCTGG
ATTTCCAGGGACACCAGGTCTTCCTGGAATGCCAGGCCACGATGGGGCCCCAGGACCTCAAGGTATTCCCGGATGCAATGGAACCAAGGG
AGAACGTGGATTTCCAGGCAGTCCCGGTTTTCCTGGTTTACAGGGTCCTCCAGGACCCCCTGGGATCCCAGGTATGAAGGGTGAACCAGG
TAGTATAATTATGTCATCACTGCCAGGACCAAAGGGTAATCCAGGATATCCAGGTCCTCCTGGAATACAAGGCCTACCTGGTCCCACTGG
TATACCAGGGCCAATTGGTCCCCCAGGACCACCAGGTTTGATGGGCCCTCCTGGTCCACCAGGACTTCCAGGACCTAAGGGGAATATGGG
CTTAAATTTCCAGGGACCCAAAGGTGAAAAAGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAG
ACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGGACTTCCTGGTGACCGAGGGCCTCCTGGACCTCCAGGGATACGTGGTCCTCCAGG
TCCCCCAGGTGGTGAGAAAGGTGAGAAGGGTGAGCAAGGAGAGCCAGGCAAAAGAGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACC
AGGAATTCCTGGTTTGCCTGGTGATCCTGGTTACCCTGGTGAACCCGGAAGGGATGGTGAAAAGGGCCAAAAAGGTGACACTGGCCCACC
TGGACCTCCTGGACTTGTAATTCCTAGACCTGGGACTGGTATAACTATAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCTGGAGA
AAAAGGAGAGCGAGGATTTCCTGGAATACAGGGTCCACCTGGCCTTCCTGGACCTCCAGGGGCTGCAGTTATGGGTCCTCCTGGCCCTCC
TGGATTTCCTGGAGAAAGGGGTCAGAAAGGTGATGAAGGACCACCTGGAATTTCCATTCCTGGACCTCCTGGACTTGACGGACAGCCTGG
GGCTCCTGGGCTTCCAGGGCCTCCTGGCCCTGCTGGCCCTCACATTCCTCCTAGTGATGAGATATGTGAACCAGGCCCTCCAGGCCCCCC
AGGATCTCCAGGTGATAAAGGACTCCAAGGAGAACAAGGAGTGAAAGGTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTAT
TTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACA
AGCTGGTGCAACTGGTCCCAAAGGATTACCAGGCATTCCAGGAGCTCCAGGTGCTCCAGGCTTTCCTGGATCTAAAGGTGAACCTGGTGA
TATCCTCACTTTTCCAGGAATGAAGGGTGACAAAGGAGAGTTGGGTTCCCCTGGAGCTCCAGGGCTTCCTGGTTTACCTGGCACTCCTGG
ACAGGATGGATTGCCAGGGCTTCCTGGCCCGAAAGGAGAGCCTATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAA
ACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTT
ACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGT
ATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTG
GTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTAT
TAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAA
ATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAA
CCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTA
TCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCA
TTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATT
CTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTT
TTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGG
AATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGG
AGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTA
TGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTG
GAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAA
ATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTA
GGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGG
TTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCG
TTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAG
TTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTT
GTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGC
TAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTC
TTCTGACTGGATTTTTCTACAAAAACTATGGAAAATATCTTTGTTCTTGTTTGCTGCTATTTTCTGTCCTATTTTGAGAAATATAAATAC
ATAGAAATGGTGCATCTTAACATTTGTTTGTACATGTATAAATGTCTTGTATTTTAATTCATTTTTAGCATGAATTGTTTAAGGGTAAGC
CACAACATCTAGAAATCACTCATAGATATTGAACAATAAAGGAGAATGGTACCGATGCAGGAGGAAGCAAGCGTGTCTTCCCCTGCAGCA
CACAGCGACTTGCGTTGACAAAGGAGGAGGAAACGATTACTCTGTAAACAAAGTTATCCTTACTTGGGAGATTGCCACAGCCTGCTGCTG
AGTTGAGTTACCAGACATCCTCCATGTGAGAAGCAGCGAACATTGAATCTCAGGGATGGCCCACAACTGGGTCCACATGTAATGAGCCCT
GTTTAATAACGAAGGGGTGGGGGAGAGCAGTCCGTCTACAACCTGGAATCAGATTTGCAAAATTTCCTGCACTGCTGTCTGACACTGTCC
TGTTGATGCCCTTTCTGACTGTGTTCTCTGTTTTCTCTGTCTGCTGTCTAACCCTGTGCCTTGCCTGGGATAAGGACAATGATGAGGTTA
CTGGTTTGGATTGTAAGTAGAGGACTTTTATTAATTGGTTTAGAGGTTCACTGCTGCTTTGTCACTTTCTCAATCAAATTGGCCACTTAA
GAAATAAAGAGCTGGTAGAATTGCATCCTCAGATGATTATTGACTGTGTGTGTGTGTGAAAACAGACATTCCAGTGCCACCCAAATATAT
ATCTGTAACGTGCCCAAGAAATCCTAGCTGCGCTCTTGAGAGTGCATGCCATGGAGACTGGTTTAGACACCGCGTGGAGCCTAGTTGCCT
GTTGTCACGGCATCTTGCACTTTAGGAGACTAAGACCGTCCTGGTTCGTCTGTGTGTGGTGTGACCAATGGTGTGCCCAGAGCACTACTC
TCAAAATCACTAGTGTTAGCAAGTCGTCCCGGGCTGGGGAGCGTTCGCCGTAGTCTTTGGAAGCTTTGGCTTTAGATTTACCAAGCCCCG
CCTCCCCGCTGCCAGTGCCCTGCTCTCCCGTTCGCCTCTTTCTGTTTCTGTGTGAACTTTCCCGGTAATATCACTCGTTAAATAGGTTTT
CTTTAAACTTAATTAAAGAAAAACTATTTAAAGGTAAAGGATATTTTGTTGACATCGGTGGCTCGATCATCCTTAAGCAACTGAAGTTAA
AATTGTTGAAGGAAAAGGCACTTAAATTGGTTACTTTCATGTCCAGCTGTATATAAGTCCAGTGTGTTCATCTAGATGACGCAAAGAATC
TCCTGGTAGAGAAGCGACATGTAAAAAACTGGTGGAAAAAGGTTTTGGATTTTTTTTCCAGTGGGGTGGGGGGAGGGCAAGCTGGATTTA
CAGGTCACGGCTGGACTGAATGGGCCTTTTTATCTTCCCACTGTATCATGGAAGTAGCTGCTTGCTTGTACTGTCCATCCTTCAGGCATC
CCTAAAGCTCACTCTGAAGATGTTAGAGACAAACACAAACTCTTCGAGTTAAAGTTGATCCTGACACTGACATGAAGGCAAGCCTTGATT
TCGTATGAACGTTGCTGAAGTGGTAATTGAGGAAAACAGTTCCCCAGATTGTTAAGAGTTCACTGAAGATATTGACACAATTTTAAAAAA
TCAGTAAAGGAATGTATATAATATTGCTCTCGTGTTTTACAGTAAGATTTGTTGCTCTCAGACTGTGTAAAACAAAATTTATTCATGTTT

>18374_18374_1_COL4A5-PAFAH1B1_COL4A5_chrX_107840798_ENST00000328300_PAFAH1B1_chr17_2585023_ENST00000397195_length(amino acids)=606AA_BP=
MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPGLPGFPGPEGPPGPRGQKGDDGIPGPPGPKG
IRGPPGLPGFPGTPGLPGMPGHDGAPGPQGIPGCNGTKGERGFPGSPGFPGLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPG
IQGLPGPTGIPGPIGPPGPPGLMGPPGPPGLPGPKGNMGLNFQGPKGEKGEQGLQGPPGPPGQISEQKRPIDVEFQKGDQGLPGDRGPPG
PPGIRGPPGPPGGEKGEKGEQGEPGKRGKPGKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPGTGITIGEKGN
IGLPGLPGEKGERGFPGIQGPPGLPGPPGAAVMGPPGPPGFPGERGQKGDEGPPGISIPGPPGLDGQPGAPGLPGPPGPAGPHIPPSDEI
CEPGPPGPPGSPGDKGLQGEQGVKGDKGDTCFNCIGTGISGPPGQPGLPGLPGPPGSLGFPGQKGEKGQAGATGPKGLPGIPGAPGAPGF

--------------------------------------------------------------
>18374_18374_2_COL4A5-PAFAH1B1_COL4A5_chrX_107840798_ENST00000361603_PAFAH1B1_chr17_2585023_ENST00000397195_length(transcript)=5910nt_BP=2023nt
AGAAGGGAAAAGTTCTCCTGAGAGACCGGCTTTGGGGAGGGGAGGGGGGAAGGAAGAGTAGCTCCTTCTTCTTCTTCTTTTTTTTTTCTT
CCACTCTTAAAAAGCTTCTTTCTCTTCACCCAAGCCTCACTGTCCCTCTCCGGCTCTAGCTCTCTCCATATAAACCCTCAAGATTATGTC
AATTGGTTAGAGCCAGCCGGGAATTTCGTGCGGGTGCTGAAGGAGCTGCGGGAGCCGGAGAAGAATGAAACTGCGTGGAGTCAGCCTGGC
TGCCGGCTTGTTCTTACTGGCCCTGAGTCTTTGGGGGCAGCCTGCAGAGGCTGCGGCTTGCTATGGGTGTTCTCCAGGATCAAAGTGTGA
CTGCAGTGGCATAAAAGGGGAAAAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGG
GCCTCCGGGGCCTCGGGGACAAAAGGGTGATGATGGAATTCCAGGGCCACCAGGACCAAAAGGAATCAGAGGTCCTCCTGGACTTCCTGG
ATTTCCAGGGACACCAGGTCTTCCTGGAATGCCAGGCCACGATGGGGCCCCAGGACCTCAAGGTATTCCCGGATGCAATGGAACCAAGGG
AGAACGTGGATTTCCAGGCAGTCCCGGTTTTCCTGGTTTACAGGGTCCTCCAGGACCCCCTGGGATCCCAGGTATGAAGGGTGAACCAGG
TAGTATAATTATGTCATCACTGCCAGGACCAAAGGGTAATCCAGGATATCCAGGTCCTCCTGGAATACAAGGCCTACCTGGTCCCACTGG
TATACCAGGGCCAATTGGTCCCCCAGGACCACCAGGTTTGATGGGCCCTCCTGGTCCACCAGGACTTCCAGGACCTAAGGGGAATATGGG
CTTAAATTTCCAGGGACCCAAAGGTGAAAAAGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAG
ACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGGACTTCCTGGTGACCGAGGGCCTCCTGGACCTCCAGGGATACGTGGTCCTCCAGG
TCCCCCAGGTGGTGAGAAAGGTGAGAAGGGTGAGCAAGGAGAGCCAGGCAAAAGAGGTAAACCAGGCAAAGATGGAGAAAATGGCCAACC
AGGAATTCCTGGTTTGCCTGGTGATCCTGGTTACCCTGGTGAACCCGGAAGGGATGGTGAAAAGGGCCAAAAAGGTGACACTGGCCCACC
TGGACCTCCTGGACTTGTAATTCCTAGACCTGGGACTGGTATAACTATAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCTGGAGA
AAAAGGAGAGCGAGGATTTCCTGGAATACAGGGTCCACCTGGCCTTCCTGGACCTCCAGGGGCTGCAGTTATGGGTCCTCCTGGCCCTCC
TGGATTTCCTGGAGAAAGGGGTCAGAAAGGTGATGAAGGACCACCTGGAATTTCCATTCCTGGACCTCCTGGACTTGACGGACAGCCTGG
GGCTCCTGGGCTTCCAGGGCCTCCTGGCCCTGCTGGCCCTCACATTCCTCCTAGTGATGAGATATGTGAACCAGGCCCTCCAGGCCCCCC
AGGATCTCCAGGTGATAAAGGACTCCAAGGAGAACAAGGAGTGAAAGGTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTAT
TTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAGGATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACA
AGCTGGTGCAACTGGTCCCAAAGGATTACCAGGCATTCCAGGAGCTCCAGGTGCTCCAGGCTTTCCTGGATCTAAAGGTGAACCTGGTGA
TATCCTCACTTTTCCAGGAATGAAGGGTGACAAAGGAGAGTTGGGTTCCCCTGGAGCTCCAGGGCTTCCTGGTTTACCTGGCACTCCTGG
ACAGGATGGATTGCCAGGGCTTCCTGGCCCGAAAGGAGAGCCTATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAA
ACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTT
ACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGT
ATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTG
GTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTAT
TAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAA
ATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAA
CCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTA
TCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCA
TTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATT
CTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTT
TTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGG
AATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGG
AGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTA
TGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTG
GAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAA
ATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTA
GGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGG
TTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCG
TTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAG
TTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTT
GTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGC
TAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTC
TTCTGACTGGATTTTTCTACAAAAACTATGGAAAATATCTTTGTTCTTGTTTGCTGCTATTTTCTGTCCTATTTTGAGAAATATAAATAC
ATAGAAATGGTGCATCTTAACATTTGTTTGTACATGTATAAATGTCTTGTATTTTAATTCATTTTTAGCATGAATTGTTTAAGGGTAAGC
CACAACATCTAGAAATCACTCATAGATATTGAACAATAAAGGAGAATGGTACCGATGCAGGAGGAAGCAAGCGTGTCTTCCCCTGCAGCA
CACAGCGACTTGCGTTGACAAAGGAGGAGGAAACGATTACTCTGTAAACAAAGTTATCCTTACTTGGGAGATTGCCACAGCCTGCTGCTG
AGTTGAGTTACCAGACATCCTCCATGTGAGAAGCAGCGAACATTGAATCTCAGGGATGGCCCACAACTGGGTCCACATGTAATGAGCCCT
GTTTAATAACGAAGGGGTGGGGGAGAGCAGTCCGTCTACAACCTGGAATCAGATTTGCAAAATTTCCTGCACTGCTGTCTGACACTGTCC
TGTTGATGCCCTTTCTGACTGTGTTCTCTGTTTTCTCTGTCTGCTGTCTAACCCTGTGCCTTGCCTGGGATAAGGACAATGATGAGGTTA
CTGGTTTGGATTGTAAGTAGAGGACTTTTATTAATTGGTTTAGAGGTTCACTGCTGCTTTGTCACTTTCTCAATCAAATTGGCCACTTAA
GAAATAAAGAGCTGGTAGAATTGCATCCTCAGATGATTATTGACTGTGTGTGTGTGTGAAAACAGACATTCCAGTGCCACCCAAATATAT
ATCTGTAACGTGCCCAAGAAATCCTAGCTGCGCTCTTGAGAGTGCATGCCATGGAGACTGGTTTAGACACCGCGTGGAGCCTAGTTGCCT
GTTGTCACGGCATCTTGCACTTTAGGAGACTAAGACCGTCCTGGTTCGTCTGTGTGTGGTGTGACCAATGGTGTGCCCAGAGCACTACTC
TCAAAATCACTAGTGTTAGCAAGTCGTCCCGGGCTGGGGAGCGTTCGCCGTAGTCTTTGGAAGCTTTGGCTTTAGATTTACCAAGCCCCG
CCTCCCCGCTGCCAGTGCCCTGCTCTCCCGTTCGCCTCTTTCTGTTTCTGTGTGAACTTTCCCGGTAATATCACTCGTTAAATAGGTTTT
CTTTAAACTTAATTAAAGAAAAACTATTTAAAGGTAAAGGATATTTTGTTGACATCGGTGGCTCGATCATCCTTAAGCAACTGAAGTTAA
AATTGTTGAAGGAAAAGGCACTTAAATTGGTTACTTTCATGTCCAGCTGTATATAAGTCCAGTGTGTTCATCTAGATGACGCAAAGAATC
TCCTGGTAGAGAAGCGACATGTAAAAAACTGGTGGAAAAAGGTTTTGGATTTTTTTTCCAGTGGGGTGGGGGGAGGGCAAGCTGGATTTA
CAGGTCACGGCTGGACTGAATGGGCCTTTTTATCTTCCCACTGTATCATGGAAGTAGCTGCTTGCTTGTACTGTCCATCCTTCAGGCATC
CCTAAAGCTCACTCTGAAGATGTTAGAGACAAACACAAACTCTTCGAGTTAAAGTTGATCCTGACACTGACATGAAGGCAAGCCTTGATT
TCGTATGAACGTTGCTGAAGTGGTAATTGAGGAAAACAGTTCCCCAGATTGTTAAGAGTTCACTGAAGATATTGACACAATTTTAAAAAA
TCAGTAAAGGAATGTATATAATATTGCTCTCGTGTTTTACAGTAAGATTTGTTGCTCTCAGACTGTGTAAAACAAAATTTATTCATGTTT

>18374_18374_2_COL4A5-PAFAH1B1_COL4A5_chrX_107840798_ENST00000361603_PAFAH1B1_chr17_2585023_ENST00000397195_length(amino acids)=606AA_BP=
MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPGLPGFPGPEGPPGPRGQKGDDGIPGPPGPKG
IRGPPGLPGFPGTPGLPGMPGHDGAPGPQGIPGCNGTKGERGFPGSPGFPGLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPG
IQGLPGPTGIPGPIGPPGPPGLMGPPGPPGLPGPKGNMGLNFQGPKGEKGEQGLQGPPGPPGQISEQKRPIDVEFQKGDQGLPGDRGPPG
PPGIRGPPGPPGGEKGEKGEQGEPGKRGKPGKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPGTGITIGEKGN
IGLPGLPGEKGERGFPGIQGPPGLPGPPGAAVMGPPGPPGFPGERGQKGDEGPPGISIPGPPGLDGQPGAPGLPGPPGPAGPHIPPSDEI
CEPGPPGPPGSPGDKGLQGEQGVKGDKGDTCFNCIGTGISGPPGQPGLPGLPGPPGSLGFPGQKGEKGQAGATGPKGLPGIPGAPGAPGF

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Fusion Gene PPI Analysis for COL4A5-PAFAH1B1

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
Tgene	PAFAH1B1	chrX:107840798	chr17:2585023	ENST00000397195		9	11	388_410	386.3333333333333	411.0	NDEL1

- Lost PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Tgene	PAFAH1B1	chrX:107840798	chr17:2585023	ENST00000397195		9	11	367_409	386.3333333333333	411.0	DCX
Tgene	PAFAH1B1	chrX:107840798	chr17:2585023	ENST00000397195		9	11	83_410	386.3333333333333	411.0	dynein and dynactin
Tgene	PAFAH1B1	chrX:107840798	chr17:2585023	ENST00000397195		9	11	1_66	386.3333333333333	411.0	NDE1
Tgene	PAFAH1B1	chrX:107840798	chr17:2585023	ENST00000397195		9	11	1_102	386.3333333333333	411.0	NDEL1

- 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 COL4A5-PAFAH1B1

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 COL4A5-PAFAH1B1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source