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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:ESRP1-NDUFAF6 (FusionGDB2 ID:27565)

Fusion Gene Summary for ESRP1-NDUFAF6

Fusion gene summary

Fusion gene information	Fusion gene name: ESRP1-NDUFAF6
	Fusion gene ID: 27565
		Hgene	Tgene
	Gene symbol	ESRP1	NDUFAF6
	Gene ID	54845	137682
	Gene name	epithelial splicing regulatory protein 1	NADH:ubiquinone oxidoreductase complex assembly factor 6
	Synonyms	DFNB109\|RBM35A\|RMB35A	C8orf38\|MC1DN17
	Cytomap	8q22.1	8q22.1
	Type of gene	protein-coding	protein-coding
	Description	epithelial splicing regulatory protein 1RNA-binding motif protein 35ARNA-binding protein 35A	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6UPF0551 protein C8orf38, mitochondrialputative phytoene synthase
	Modification date	20200313	20200313
	UniProtAcc	Q6NXG1	Q330K2
	Ensembl transtripts involved in fusion gene	ENST00000358397, ENST00000423620, ENST00000433389, ENST00000454170, ENST00000523347,	ENST00000286687, ENST00000396111, ENST00000396124, ENST00000521840, ENST00000542894, ENST00000396113,
Fusion gene scores	* DoF score	9 X 7 X 6=378	7 X 10 X 6=420
	# samples	9	11
	** MAII score	log2(9/378*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/420*10)=-1.93288580414146 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ESRP1 [Title/Abstract] AND NDUFAF6 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ESRP1(95680478)-NDUFAF6(96047682), # 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
Hgene	ESRP1	GO:0043484	regulation of RNA splicing	19285943

Fusion gene breakpoints across ESRP1 (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 NDUFAF6 (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	UCEC	TCGA-EY-A212-01A	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+

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Fusion Gene ORF analysis for ESRP1-NDUFAF6

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-5UTR	ENST00000358397	ENST00000286687	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-5UTR	ENST00000358397	ENST00000396111	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-5UTR	ENST00000423620	ENST00000286687	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-5UTR	ENST00000423620	ENST00000396111	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-5UTR	ENST00000433389	ENST00000286687	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-5UTR	ENST00000433389	ENST00000396111	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-5UTR	ENST00000454170	ENST00000286687	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-5UTR	ENST00000454170	ENST00000396111	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-intron	ENST00000358397	ENST00000396124	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-intron	ENST00000358397	ENST00000521840	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-intron	ENST00000358397	ENST00000542894	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-intron	ENST00000423620	ENST00000396124	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-intron	ENST00000423620	ENST00000521840	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-intron	ENST00000423620	ENST00000542894	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-intron	ENST00000433389	ENST00000396124	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-intron	ENST00000433389	ENST00000521840	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-intron	ENST00000433389	ENST00000542894	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-intron	ENST00000454170	ENST00000396124	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-intron	ENST00000454170	ENST00000521840	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
5CDS-intron	ENST00000454170	ENST00000542894	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
In-frame	ENST00000358397	ENST00000396113	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
In-frame	ENST00000423620	ENST00000396113	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
In-frame	ENST00000433389	ENST00000396113	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
In-frame	ENST00000454170	ENST00000396113	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
intron-3CDS	ENST00000523347	ENST00000396113	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
intron-5UTR	ENST00000523347	ENST00000286687	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
intron-5UTR	ENST00000523347	ENST00000396111	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
intron-intron	ENST00000523347	ENST00000396124	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
intron-intron	ENST00000523347	ENST00000521840	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+
intron-intron	ENST00000523347	ENST00000542894	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+

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)

ENST00000423620

ESRP1

chr8

95680478

ENST00000396113

NDUFAF6

chr8

96047682

2956

1478

2182

720

ENST00000433389

ESRP1

chr8

95680478

ENST00000396113

NDUFAF6

chr8

96047682

2901

1423

2127

697

ENST00000358397

ESRP1

chr8

95680478

ENST00000396113

NDUFAF6

chr8

96047682

2856

1378

145

2082

645

ENST00000454170

ESRP1

chr8

95680478

ENST00000396113

NDUFAF6

chr8

96047682

2831

1353

120

2057

645

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
ENST00000423620	ENST00000396113	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+	0.002690304	0.9973097
ENST00000433389	ENST00000396113	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+	0.002793678	0.9972063
ENST00000358397	ENST00000396113	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+	0.003052832	0.9969472
ENST00000454170	ENST00000396113	ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047682	+	0.0025172	0.99748284

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Fusion Genomic Features for ESRP1-NDUFAF6

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)
ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047681	+	0.001381867	0.9986181
ESRP1	chr8	95680478	+	NDUFAF6	chr8	96047681	+	0.001381867	0.9986181

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 ESRP1-NDUFAF6

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:95680478/chr8:96047682)
- 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
ESRP1 Q6NXG1	NDUFAF6 Q330K2
FUNCTION: mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2 (PubMed:19285943). Regulates splicing and expression of genes involved in inner ear development, auditory hair cell differentiation, and cell fate specification in the cochlear epithelium (By similarity). {ECO:0000250\|UniProtKB:Q3US41, ECO:0000269\|PubMed:19285943}.	FUNCTION: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1. {ECO:0000269\|PubMed:18614015, ECO:0000269\|PubMed:22019594}.

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

ESRP1

chr8:95680478

chr8:96047682

ENST00000358397

225_302

411

1099.6666666666667

Domain

RRM 1

Hgene

ESRP1

chr8:95680478

chr8:96047682

ENST00000358397

326_406

411

1099.6666666666667

Domain

RRM 2

Hgene

ESRP1

chr8:95680478

chr8:96047682

ENST00000423620

225_302

411

660.0

Domain

RRM 1

Hgene

ESRP1

chr8:95680478

chr8:96047682

ENST00000423620

326_406

411

660.0

Domain

RRM 2

Hgene

ESRP1

chr8:95680478

chr8:96047682

ENST00000433389

225_302

411

1074.3333333333333

Domain

RRM 1

Hgene

ESRP1

chr8:95680478

chr8:96047682

ENST00000433389

326_406

411

1074.3333333333333

Domain

RRM 2

Hgene

ESRP1

chr8:95680478

chr8:96047682

ENST00000454170

225_302

411

609.0

Domain

RRM 1

Hgene

ESRP1

chr8:95680478

chr8:96047682

ENST00000454170

326_406

411

609.0

Domain

RRM 2

- 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

ESRP1

chr8:95680478

chr8:96047682

ENST00000358397

445_525

411

1099.6666666666667

Domain

RRM 3

Hgene

ESRP1

chr8:95680478

chr8:96047682

ENST00000423620

445_525

411

660.0

Domain

RRM 3

Hgene

ESRP1

chr8:95680478

chr8:96047682

ENST00000433389

445_525

411

1074.3333333333333

Domain

RRM 3

Hgene

ESRP1

chr8:95680478

chr8:96047682

ENST00000454170

445_525

411

609.0

Domain

RRM 3

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Fusion Gene Sequence for ESRP1-NDUFAF6

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.

>27565_27565_1_ESRP1-NDUFAF6_ESRP1_chr8_95680478_ENST00000358397_NDUFAF6_chr8_96047682_ENST00000396113_length(transcript)=2856nt_BP=1378nt
CTTTTGCACTAGCAGTAGCAAGGAAGGGGGGTGGGCGCTCTTTCTTTTTCTCTTAGAAGAGGGTTTAGCACAGGTTTTTTCGTTCTCACT
TCCACACCACCTTACCGCCTCCCGACCCCCCCTCTCCCCCTCCCCACCTATCGTCATGACGGCCTCTCCGGATTACTTGGTGGTGCTTTT
TGGGATCACTGCTGGGGCCACCGGGGCCAAGCTAGGCTCGGATGAGAAGGAGTTGATCCTGCTGTTCTGGAAAGTCGTGGATCTGGCCAA
CAAGAAGGTGGGACAGTTGCACGAAGTGCTAGTTAGACCGGATCAGTTGGAACTGACGGAGGACTGCAAAGAAGAAACTAAAATAGACGT
CGAAAGCCTGTCCTCGGCGTCGCAGCTGGACCAAGCCCTCCGACAGTTTAACCAGTCAGTGAGCAATGAACTGAATATTGGAGTAGGGAC
TTCCTTCTGTCTCTGTACTGATGGGCAGCTTCATGTCAGGCAAATCCTGCATCCTGAGGCTTCCAAGAAGAATGTACTATTACCTGAATG
CTTCTATTCCTTTTTTGATCTTCGAAAAGAATTCAAGAAATGTTGCCCTGGTTCACCTGATATTGACAAACTGGACGTTGCCACAATGAC
AGAGTATTTAAATTTTGAGAAGAGTAGTTCAGTCTCTCGATATGGAGCCTCTCAAGTTGAAGATATGGGGAATATAATTTTAGCAATGAT
TTCAGAGCCTTATAATCACAGGTTTTCAGATCCAGAGAGAGTGAATTACAAGTTTGAAAGTGGAACTTGCAGCAAGATGGAACTTATTGA
TGATAACACCGTAGTCAGGGCACGAGGTTTACCATGGCAGTCTTCAGATCAAGATATTGCAAGATTCTTCAAAGGACTCAATATTGCCAA
GGGAGGTGCAGCACTTTGTCTGAATGCTCAGGGTCGAAGGAACGGAGAAGCTCTGGTTAGGTTTGTAAGTGAGGAGCACCGAGACCTAGC
ACTACAGAGGCACAAACATCACATGGGGACCCGGTATATTGAGGTTTACAAAGCAACAGGTGAAGATTTCCTTAAAATTGCTGGTGGTAC
TTCCAATGAGGTAGCCCAGTTTCTCTCCAAGGAAAATCAAGTCATTGTCCGCATGCGGGGGCTCCCTTTCACGGCCACAGCTGAAGAAGT
GGTGGCCTTCTTTGGACAGCATTGCCCTATTACTGGGGGAAAGGAAGGCATCCTCTTTGTCACCTACCCAGATGGTAGGCCAACAGGGGA
CGCTTTTGTCCTCTTTGCCTGTGAGGAATATGCACAGAATGCGTTGAGGAAGCATAAAGACTTGTTGGGTAAAAGATACATTGAACTCTT
CAGGAGCACAGCAGCTGAAGTTCAGCAGGTTAAAGACTCAGTCTCTGAGAAAACAATTGGACTGATGCGAATGCAGTTTTGGAAAAAAAC
TGTGGAAGATATATACTGTGACAATCCACCACATCAGCCTGTGGCCATTGAACTATGGAAGGCTGTTAAAAGACATAATCTGACTAAAAG
ATGGCTTATGAAAATCGTCGATGAAAGAGAAAAAAATCTGGATGACAAAGCATATCGTAATATCAAGGAACTGGAAAATTATGCTGAAAA
CACACAGAGCTCTCTTCTTTACTTAACACTAGAAATATTGGGTATAAAGGATCTTCATGCAGATCATGCTGCAAGTCATATTGGAAAAGC
ACAAGGCATTGTCACTTGCTTGAGAGCAACACCATATCATGGGAGCAGAAGAAAGGTGTTCCTTCCCATGGATATTTGTATGCTGCATGG
TGTTTCACAAGAGGACTTTCTACGGAGGAACCAAGATAAAAATGTGAGAGATGTAATATATGACATTGCCAGTCAAGCACACTTGCACCT
AAAGCATGCTAGGTCCTTTCACAAAACTGTTCCTGTGAAAGCATTTCCTGCTTTTCTTCAGACGGTTTCTCTAGAGGACTTTCTAAAGAA
AATTCAGCGAGTGGATTTTGATATATTCCACCCATCTTTACAGCAGAAGAATACATTACTTCCATTATATTTGTATATTCAGTCATGGAG
AAAAACATATTAAAATAATTTCATGGCATTGATGTTAATTCTAGTCTATTAGTTTTATAAAAGTTAGGATTCTTATTTAGGAACAACAGG
AAATGACTGTTAAGGAGAAAATGAATTTATTGAATGGGATGTCAAGTAGCTCACAAAATTGAGAAGTTGCCGTGGGACTAGGGTGCCAAG
ACTGCTGAGATTCTGGCAGAGGCACTGCCATTGGCACCCCTGGCCCAGACAGTGTCTGCTGTGCTGTCCCTGGAAGCTGGAGCTCCAACA
GGGAATATTGGTGTAGCTGTGCATAGGCCATAAGCCACACTTGAGCCAGTGGGCAGGGAGAAGGAATGTCATTCTCCCTTCACCACTGGG
GAAGGAAAGGGGAAAGGGCTCAAGTTATCATAGGGGCTTACATGCTGAGCAGCTATAACCTAGGTGTTCAGAACACCTGGAAGATGCATT
TATTTAGGGGTCACAAATAGTGAAATTAATATTTGAGGAATATCAGTCACGTGTTGTGGGCTTTTATCCTTAACGTTTAATTTTTACAAT
CTTGTGTAAAAATTTATCCATGATAATAACATAACTTCTTTAAGGTTGGAGTGGCTGGCAAGAGCAGAGCCTTAATTTGACTTTAGCTCT
GGCTGGTCTGGAAGCTTTTACTTTTTTGTTAATCCCACTTCCTCACTCTGTCATTCAGCATTATCATGATCGTGAACAAAATTGTACTGA

>27565_27565_1_ESRP1-NDUFAF6_ESRP1_chr8_95680478_ENST00000358397_NDUFAF6_chr8_96047682_ENST00000396113_length(amino acids)=645AA_BP=0
MTASPDYLVVLFGITAGATGAKLGSDEKELILLFWKVVDLANKKVGQLHEVLVRPDQLELTEDCKEETKIDVESLSSASQLDQALRQFNQ
SVSNELNIGVGTSFCLCTDGQLHVRQILHPEASKKNVLLPECFYSFFDLRKEFKKCCPGSPDIDKLDVATMTEYLNFEKSSSVSRYGASQ
VEDMGNIILAMISEPYNHRFSDPERVNYKFESGTCSKMELIDDNTVVRARGLPWQSSDQDIARFFKGLNIAKGGAALCLNAQGRRNGEAL
VRFVSEEHRDLALQRHKHHMGTRYIEVYKATGEDFLKIAGGTSNEVAQFLSKENQVIVRMRGLPFTATAEEVVAFFGQHCPITGGKEGIL
FVTYPDGRPTGDAFVLFACEEYAQNALRKHKDLLGKRYIELFRSTAAEVQQVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIEL
WKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRK
VFLPMDICMLHGVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNT

--------------------------------------------------------------
>27565_27565_2_ESRP1-NDUFAF6_ESRP1_chr8_95680478_ENST00000423620_NDUFAF6_chr8_96047682_ENST00000396113_length(transcript)=2956nt_BP=1478nt
ATACAAAAAGGGCAGGCCTCCTGCGCCCTCCTTCCCACCCCCCTTCCTGCCCTGGGCGTGGAGCACCGACCAGGTGTGGGCTTGGGTGGT
TGGTTACCGCCTTTTGCACTAGCAGTAGCAAGGAAGGGGGGTGGGCGCTCTTTCTTTTTCTCTTAGAAGAGGGTTTAGCACAGGTTTTTT
CGTTCTCACTTCCACACCACCTTACCGCCTCCCGACCCCCCCTCTCCCCCTCCCCACCTATCGTCATGACGGCCTCTCCGGATTACTTGG
TGGTGCTTTTTGGGATCACTGCTGGGGCCACCGGGGCCAAGCTAGGCTCGGATGAGAAGGAGTTGATCCTGCTGTTCTGGAAAGTCGTGG
ATCTGGCCAACAAGAAGGTGGGACAGTTGCACGAAGTGCTAGTTAGACCGGATCAGTTGGAACTGACGGAGGACTGCAAAGAAGAAACTA
AAATAGACGTCGAAAGCCTGTCCTCGGCGTCGCAGCTGGACCAAGCCCTCCGACAGTTTAACCAGTCAGTGAGCAATGAACTGAATATTG
GAGTAGGGACTTCCTTCTGTCTCTGTACTGATGGGCAGCTTCATGTCAGGCAAATCCTGCATCCTGAGGCTTCCAAGAAGAATGTACTAT
TACCTGAATGCTTCTATTCCTTTTTTGATCTTCGAAAAGAATTCAAGAAATGTTGCCCTGGTTCACCTGATATTGACAAACTGGACGTTG
CCACAATGACAGAGTATTTAAATTTTGAGAAGAGTAGTTCAGTCTCTCGATATGGAGCCTCTCAAGTTGAAGATATGGGGAATATAATTT
TAGCAATGATTTCAGAGCCTTATAATCACAGGTTTTCAGATCCAGAGAGAGTGAATTACAAGTTTGAAAGTGGAACTTGCAGCAAGATGG
AACTTATTGATGATAACACCGTAGTCAGGGCACGAGGTTTACCATGGCAGTCTTCAGATCAAGATATTGCAAGATTCTTCAAAGGACTCA
ATATTGCCAAGGGAGGTGCAGCACTTTGTCTGAATGCTCAGGGTCGAAGGAACGGAGAAGCTCTGGTTAGGTTTGTAAGTGAGGAGCACC
GAGACCTAGCACTACAGAGGCACAAACATCACATGGGGACCCGGTATATTGAGGTTTACAAAGCAACAGGTGAAGATTTCCTTAAAATTG
CTGGTGGTACTTCCAATGAGGTAGCCCAGTTTCTCTCCAAGGAAAATCAAGTCATTGTCCGCATGCGGGGGCTCCCTTTCACGGCCACAG
CTGAAGAAGTGGTGGCCTTCTTTGGACAGCATTGCCCTATTACTGGGGGAAAGGAAGGCATCCTCTTTGTCACCTACCCAGATGGTAGGC
CAACAGGGGACGCTTTTGTCCTCTTTGCCTGTGAGGAATATGCACAGAATGCGTTGAGGAAGCATAAAGACTTGTTGGGTAAAAGATACA
TTGAACTCTTCAGGAGCACAGCAGCTGAAGTTCAGCAGGTTAAAGACTCAGTCTCTGAGAAAACAATTGGACTGATGCGAATGCAGTTTT
GGAAAAAAACTGTGGAAGATATATACTGTGACAATCCACCACATCAGCCTGTGGCCATTGAACTATGGAAGGCTGTTAAAAGACATAATC
TGACTAAAAGATGGCTTATGAAAATCGTCGATGAAAGAGAAAAAAATCTGGATGACAAAGCATATCGTAATATCAAGGAACTGGAAAATT
ATGCTGAAAACACACAGAGCTCTCTTCTTTACTTAACACTAGAAATATTGGGTATAAAGGATCTTCATGCAGATCATGCTGCAAGTCATA
TTGGAAAAGCACAAGGCATTGTCACTTGCTTGAGAGCAACACCATATCATGGGAGCAGAAGAAAGGTGTTCCTTCCCATGGATATTTGTA
TGCTGCATGGTGTTTCACAAGAGGACTTTCTACGGAGGAACCAAGATAAAAATGTGAGAGATGTAATATATGACATTGCCAGTCAAGCAC
ACTTGCACCTAAAGCATGCTAGGTCCTTTCACAAAACTGTTCCTGTGAAAGCATTTCCTGCTTTTCTTCAGACGGTTTCTCTAGAGGACT
TTCTAAAGAAAATTCAGCGAGTGGATTTTGATATATTCCACCCATCTTTACAGCAGAAGAATACATTACTTCCATTATATTTGTATATTC
AGTCATGGAGAAAAACATATTAAAATAATTTCATGGCATTGATGTTAATTCTAGTCTATTAGTTTTATAAAAGTTAGGATTCTTATTTAG
GAACAACAGGAAATGACTGTTAAGGAGAAAATGAATTTATTGAATGGGATGTCAAGTAGCTCACAAAATTGAGAAGTTGCCGTGGGACTA
GGGTGCCAAGACTGCTGAGATTCTGGCAGAGGCACTGCCATTGGCACCCCTGGCCCAGACAGTGTCTGCTGTGCTGTCCCTGGAAGCTGG
AGCTCCAACAGGGAATATTGGTGTAGCTGTGCATAGGCCATAAGCCACACTTGAGCCAGTGGGCAGGGAGAAGGAATGTCATTCTCCCTT
CACCACTGGGGAAGGAAAGGGGAAAGGGCTCAAGTTATCATAGGGGCTTACATGCTGAGCAGCTATAACCTAGGTGTTCAGAACACCTGG
AAGATGCATTTATTTAGGGGTCACAAATAGTGAAATTAATATTTGAGGAATATCAGTCACGTGTTGTGGGCTTTTATCCTTAACGTTTAA
TTTTTACAATCTTGTGTAAAAATTTATCCATGATAATAACATAACTTCTTTAAGGTTGGAGTGGCTGGCAAGAGCAGAGCCTTAATTTGA
CTTTAGCTCTGGCTGGTCTGGAAGCTTTTACTTTTTTGTTAATCCCACTTCCTCACTCTGTCATTCAGCATTATCATGATCGTGAACAAA

>27565_27565_2_ESRP1-NDUFAF6_ESRP1_chr8_95680478_ENST00000423620_NDUFAF6_chr8_96047682_ENST00000396113_length(amino acids)=720AA_BP=1
MRPPSHPPSCPGRGAPTRCGLGWLVTAFCTSSSKEGGWALFLFLLEEGLAQVFSFSLPHHLTASRPPLSPSPPIVMTASPDYLVVLFGIT
AGATGAKLGSDEKELILLFWKVVDLANKKVGQLHEVLVRPDQLELTEDCKEETKIDVESLSSASQLDQALRQFNQSVSNELNIGVGTSFC
LCTDGQLHVRQILHPEASKKNVLLPECFYSFFDLRKEFKKCCPGSPDIDKLDVATMTEYLNFEKSSSVSRYGASQVEDMGNIILAMISEP
YNHRFSDPERVNYKFESGTCSKMELIDDNTVVRARGLPWQSSDQDIARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHRDLALQR
HKHHMGTRYIEVYKATGEDFLKIAGGTSNEVAQFLSKENQVIVRMRGLPFTATAEEVVAFFGQHCPITGGKEGILFVTYPDGRPTGDAFV
LFACEEYAQNALRKHKDLLGKRYIELFRSTAAEVQQVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLM
KIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHGVSQ
EDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY

--------------------------------------------------------------
>27565_27565_3_ESRP1-NDUFAF6_ESRP1_chr8_95680478_ENST00000433389_NDUFAF6_chr8_96047682_ENST00000396113_length(transcript)=2901nt_BP=1423nt
GCGTGGAGCACCGACCAGGTGTGGGCTTGGGTGGTTGGTTACCGCCTTTTGCACTAGCAGTAGCAAGGAAGGGGGGTGGGCGCTCTTTCT
TTTTCTCTTAGAAGAGGGTTTAGCACAGGTTTTTTCGTTCTCACTTCCACACCACCTTACCGCCTCCCGACCCCCCCTCTCCCCCTCCCC
ACCTATCGTCATGACGGCCTCTCCGGATTACTTGGTGGTGCTTTTTGGGATCACTGCTGGGGCCACCGGGGCCAAGCTAGGCTCGGATGA
GAAGGAGTTGATCCTGCTGTTCTGGAAAGTCGTGGATCTGGCCAACAAGAAGGTGGGACAGTTGCACGAAGTGCTAGTTAGACCGGATCA
GTTGGAACTGACGGAGGACTGCAAAGAAGAAACTAAAATAGACGTCGAAAGCCTGTCCTCGGCGTCGCAGCTGGACCAAGCCCTCCGACA
GTTTAACCAGTCAGTGAGCAATGAACTGAATATTGGAGTAGGGACTTCCTTCTGTCTCTGTACTGATGGGCAGCTTCATGTCAGGCAAAT
CCTGCATCCTGAGGCTTCCAAGAAGAATGTACTATTACCTGAATGCTTCTATTCCTTTTTTGATCTTCGAAAAGAATTCAAGAAATGTTG
CCCTGGTTCACCTGATATTGACAAACTGGACGTTGCCACAATGACAGAGTATTTAAATTTTGAGAAGAGTAGTTCAGTCTCTCGATATGG
AGCCTCTCAAGTTGAAGATATGGGGAATATAATTTTAGCAATGATTTCAGAGCCTTATAATCACAGGTTTTCAGATCCAGAGAGAGTGAA
TTACAAGTTTGAAAGTGGAACTTGCAGCAAGATGGAACTTATTGATGATAACACCGTAGTCAGGGCACGAGGTTTACCATGGCAGTCTTC
AGATCAAGATATTGCAAGATTCTTCAAAGGACTCAATATTGCCAAGGGAGGTGCAGCACTTTGTCTGAATGCTCAGGGTCGAAGGAACGG
AGAAGCTCTGGTTAGGTTTGTAAGTGAGGAGCACCGAGACCTAGCACTACAGAGGCACAAACATCACATGGGGACCCGGTATATTGAGGT
TTACAAAGCAACAGGTGAAGATTTCCTTAAAATTGCTGGTGGTACTTCCAATGAGGTAGCCCAGTTTCTCTCCAAGGAAAATCAAGTCAT
TGTCCGCATGCGGGGGCTCCCTTTCACGGCCACAGCTGAAGAAGTGGTGGCCTTCTTTGGACAGCATTGCCCTATTACTGGGGGAAAGGA
AGGCATCCTCTTTGTCACCTACCCAGATGGTAGGCCAACAGGGGACGCTTTTGTCCTCTTTGCCTGTGAGGAATATGCACAGAATGCGTT
GAGGAAGCATAAAGACTTGTTGGGTAAAAGATACATTGAACTCTTCAGGAGCACAGCAGCTGAAGTTCAGCAGGTTAAAGACTCAGTCTC
TGAGAAAACAATTGGACTGATGCGAATGCAGTTTTGGAAAAAAACTGTGGAAGATATATACTGTGACAATCCACCACATCAGCCTGTGGC
CATTGAACTATGGAAGGCTGTTAAAAGACATAATCTGACTAAAAGATGGCTTATGAAAATCGTCGATGAAAGAGAAAAAAATCTGGATGA
CAAAGCATATCGTAATATCAAGGAACTGGAAAATTATGCTGAAAACACACAGAGCTCTCTTCTTTACTTAACACTAGAAATATTGGGTAT
AAAGGATCTTCATGCAGATCATGCTGCAAGTCATATTGGAAAAGCACAAGGCATTGTCACTTGCTTGAGAGCAACACCATATCATGGGAG
CAGAAGAAAGGTGTTCCTTCCCATGGATATTTGTATGCTGCATGGTGTTTCACAAGAGGACTTTCTACGGAGGAACCAAGATAAAAATGT
GAGAGATGTAATATATGACATTGCCAGTCAAGCACACTTGCACCTAAAGCATGCTAGGTCCTTTCACAAAACTGTTCCTGTGAAAGCATT
TCCTGCTTTTCTTCAGACGGTTTCTCTAGAGGACTTTCTAAAGAAAATTCAGCGAGTGGATTTTGATATATTCCACCCATCTTTACAGCA
GAAGAATACATTACTTCCATTATATTTGTATATTCAGTCATGGAGAAAAACATATTAAAATAATTTCATGGCATTGATGTTAATTCTAGT
CTATTAGTTTTATAAAAGTTAGGATTCTTATTTAGGAACAACAGGAAATGACTGTTAAGGAGAAAATGAATTTATTGAATGGGATGTCAA
GTAGCTCACAAAATTGAGAAGTTGCCGTGGGACTAGGGTGCCAAGACTGCTGAGATTCTGGCAGAGGCACTGCCATTGGCACCCCTGGCC
CAGACAGTGTCTGCTGTGCTGTCCCTGGAAGCTGGAGCTCCAACAGGGAATATTGGTGTAGCTGTGCATAGGCCATAAGCCACACTTGAG
CCAGTGGGCAGGGAGAAGGAATGTCATTCTCCCTTCACCACTGGGGAAGGAAAGGGGAAAGGGCTCAAGTTATCATAGGGGCTTACATGC
TGAGCAGCTATAACCTAGGTGTTCAGAACACCTGGAAGATGCATTTATTTAGGGGTCACAAATAGTGAAATTAATATTTGAGGAATATCA
GTCACGTGTTGTGGGCTTTTATCCTTAACGTTTAATTTTTACAATCTTGTGTAAAAATTTATCCATGATAATAACATAACTTCTTTAAGG
TTGGAGTGGCTGGCAAGAGCAGAGCCTTAATTTGACTTTAGCTCTGGCTGGTCTGGAAGCTTTTACTTTTTTGTTAATCCCACTTCCTCA
CTCTGTCATTCAGCATTATCATGATCGTGAACAAAATTGTACTGAGAAAGTTTGTATAAGTGATATGAACGGTATTGTATTGAACATCCA

>27565_27565_3_ESRP1-NDUFAF6_ESRP1_chr8_95680478_ENST00000433389_NDUFAF6_chr8_96047682_ENST00000396113_length(amino acids)=697AA_BP=1
MVTAFCTSSSKEGGWALFLFLLEEGLAQVFSFSLPHHLTASRPPLSPSPPIVMTASPDYLVVLFGITAGATGAKLGSDEKELILLFWKVV
DLANKKVGQLHEVLVRPDQLELTEDCKEETKIDVESLSSASQLDQALRQFNQSVSNELNIGVGTSFCLCTDGQLHVRQILHPEASKKNVL
LPECFYSFFDLRKEFKKCCPGSPDIDKLDVATMTEYLNFEKSSSVSRYGASQVEDMGNIILAMISEPYNHRFSDPERVNYKFESGTCSKM
ELIDDNTVVRARGLPWQSSDQDIARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHRDLALQRHKHHMGTRYIEVYKATGEDFLKI
AGGTSNEVAQFLSKENQVIVRMRGLPFTATAEEVVAFFGQHCPITGGKEGILFVTYPDGRPTGDAFVLFACEEYAQNALRKHKDLLGKRY
IELFRSTAAEVQQVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELEN
YAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHGVSQEDFLRRNQDKNVRDVIYDIASQA

--------------------------------------------------------------
>27565_27565_4_ESRP1-NDUFAF6_ESRP1_chr8_95680478_ENST00000454170_NDUFAF6_chr8_96047682_ENST00000396113_length(transcript)=2831nt_BP=1353nt
GGGGGGTGGGCGCTCTTTCTTTTTCTCTTAGAAGAGGGTTTAGCACAGGTTTTTTCGTTCTCACTTCCACACCACCTTACCGCCTCCCGA
CCCCCCCTCTCCCCCTCCCCACCTATCGTCATGACGGCCTCTCCGGATTACTTGGTGGTGCTTTTTGGGATCACTGCTGGGGCCACCGGG
GCCAAGCTAGGCTCGGATGAGAAGGAGTTGATCCTGCTGTTCTGGAAAGTCGTGGATCTGGCCAACAAGAAGGTGGGACAGTTGCACGAA
GTGCTAGTTAGACCGGATCAGTTGGAACTGACGGAGGACTGCAAAGAAGAAACTAAAATAGACGTCGAAAGCCTGTCCTCGGCGTCGCAG
CTGGACCAAGCCCTCCGACAGTTTAACCAGTCAGTGAGCAATGAACTGAATATTGGAGTAGGGACTTCCTTCTGTCTCTGTACTGATGGG
CAGCTTCATGTCAGGCAAATCCTGCATCCTGAGGCTTCCAAGAAGAATGTACTATTACCTGAATGCTTCTATTCCTTTTTTGATCTTCGA
AAAGAATTCAAGAAATGTTGCCCTGGTTCACCTGATATTGACAAACTGGACGTTGCCACAATGACAGAGTATTTAAATTTTGAGAAGAGT
AGTTCAGTCTCTCGATATGGAGCCTCTCAAGTTGAAGATATGGGGAATATAATTTTAGCAATGATTTCAGAGCCTTATAATCACAGGTTT
TCAGATCCAGAGAGAGTGAATTACAAGTTTGAAAGTGGAACTTGCAGCAAGATGGAACTTATTGATGATAACACCGTAGTCAGGGCACGA
GGTTTACCATGGCAGTCTTCAGATCAAGATATTGCAAGATTCTTCAAAGGACTCAATATTGCCAAGGGAGGTGCAGCACTTTGTCTGAAT
GCTCAGGGTCGAAGGAACGGAGAAGCTCTGGTTAGGTTTGTAAGTGAGGAGCACCGAGACCTAGCACTACAGAGGCACAAACATCACATG
GGGACCCGGTATATTGAGGTTTACAAAGCAACAGGTGAAGATTTCCTTAAAATTGCTGGTGGTACTTCCAATGAGGTAGCCCAGTTTCTC
TCCAAGGAAAATCAAGTCATTGTCCGCATGCGGGGGCTCCCTTTCACGGCCACAGCTGAAGAAGTGGTGGCCTTCTTTGGACAGCATTGC
CCTATTACTGGGGGAAAGGAAGGCATCCTCTTTGTCACCTACCCAGATGGTAGGCCAACAGGGGACGCTTTTGTCCTCTTTGCCTGTGAG
GAATATGCACAGAATGCGTTGAGGAAGCATAAAGACTTGTTGGGTAAAAGATACATTGAACTCTTCAGGAGCACAGCAGCTGAAGTTCAG
CAGGTTAAAGACTCAGTCTCTGAGAAAACAATTGGACTGATGCGAATGCAGTTTTGGAAAAAAACTGTGGAAGATATATACTGTGACAAT
CCACCACATCAGCCTGTGGCCATTGAACTATGGAAGGCTGTTAAAAGACATAATCTGACTAAAAGATGGCTTATGAAAATCGTCGATGAA
AGAGAAAAAAATCTGGATGACAAAGCATATCGTAATATCAAGGAACTGGAAAATTATGCTGAAAACACACAGAGCTCTCTTCTTTACTTA
ACACTAGAAATATTGGGTATAAAGGATCTTCATGCAGATCATGCTGCAAGTCATATTGGAAAAGCACAAGGCATTGTCACTTGCTTGAGA
GCAACACCATATCATGGGAGCAGAAGAAAGGTGTTCCTTCCCATGGATATTTGTATGCTGCATGGTGTTTCACAAGAGGACTTTCTACGG
AGGAACCAAGATAAAAATGTGAGAGATGTAATATATGACATTGCCAGTCAAGCACACTTGCACCTAAAGCATGCTAGGTCCTTTCACAAA
ACTGTTCCTGTGAAAGCATTTCCTGCTTTTCTTCAGACGGTTTCTCTAGAGGACTTTCTAAAGAAAATTCAGCGAGTGGATTTTGATATA
TTCCACCCATCTTTACAGCAGAAGAATACATTACTTCCATTATATTTGTATATTCAGTCATGGAGAAAAACATATTAAAATAATTTCATG
GCATTGATGTTAATTCTAGTCTATTAGTTTTATAAAAGTTAGGATTCTTATTTAGGAACAACAGGAAATGACTGTTAAGGAGAAAATGAA
TTTATTGAATGGGATGTCAAGTAGCTCACAAAATTGAGAAGTTGCCGTGGGACTAGGGTGCCAAGACTGCTGAGATTCTGGCAGAGGCAC
TGCCATTGGCACCCCTGGCCCAGACAGTGTCTGCTGTGCTGTCCCTGGAAGCTGGAGCTCCAACAGGGAATATTGGTGTAGCTGTGCATA
GGCCATAAGCCACACTTGAGCCAGTGGGCAGGGAGAAGGAATGTCATTCTCCCTTCACCACTGGGGAAGGAAAGGGGAAAGGGCTCAAGT
TATCATAGGGGCTTACATGCTGAGCAGCTATAACCTAGGTGTTCAGAACACCTGGAAGATGCATTTATTTAGGGGTCACAAATAGTGAAA
TTAATATTTGAGGAATATCAGTCACGTGTTGTGGGCTTTTATCCTTAACGTTTAATTTTTACAATCTTGTGTAAAAATTTATCCATGATA
ATAACATAACTTCTTTAAGGTTGGAGTGGCTGGCAAGAGCAGAGCCTTAATTTGACTTTAGCTCTGGCTGGTCTGGAAGCTTTTACTTTT
TTGTTAATCCCACTTCCTCACTCTGTCATTCAGCATTATCATGATCGTGAACAAAATTGTACTGAGAAAGTTTGTATAAGTGATATGAAC

>27565_27565_4_ESRP1-NDUFAF6_ESRP1_chr8_95680478_ENST00000454170_NDUFAF6_chr8_96047682_ENST00000396113_length(amino acids)=645AA_BP=0
MTASPDYLVVLFGITAGATGAKLGSDEKELILLFWKVVDLANKKVGQLHEVLVRPDQLELTEDCKEETKIDVESLSSASQLDQALRQFNQ
SVSNELNIGVGTSFCLCTDGQLHVRQILHPEASKKNVLLPECFYSFFDLRKEFKKCCPGSPDIDKLDVATMTEYLNFEKSSSVSRYGASQ
VEDMGNIILAMISEPYNHRFSDPERVNYKFESGTCSKMELIDDNTVVRARGLPWQSSDQDIARFFKGLNIAKGGAALCLNAQGRRNGEAL
VRFVSEEHRDLALQRHKHHMGTRYIEVYKATGEDFLKIAGGTSNEVAQFLSKENQVIVRMRGLPFTATAEEVVAFFGQHCPITGGKEGIL
FVTYPDGRPTGDAFVLFACEEYAQNALRKHKDLLGKRYIELFRSTAAEVQQVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIEL
WKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRK
VFLPMDICMLHGVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNT

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

Top

Fusion Gene PPI Analysis for ESRP1-NDUFAF6

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

Top

Related Drugs for ESRP1-NDUFAF6

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 ESRP1-NDUFAF6

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source