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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:CTCFL-ABCB5 (FusionGDB2 ID:20100)

Fusion Gene Summary for CTCFL-ABCB5

Fusion gene summary

Fusion gene information	Fusion gene name: CTCFL-ABCB5
	Fusion gene ID: 20100
		Hgene	Tgene
	Gene symbol	CTCFL	ABCB5
	Gene ID	140690	340273
	Gene name	CCCTC-binding factor like	ATP binding cassette subfamily B member 5
	Synonyms	BORIS\|CT27\|CTCF-T\|HMGB1L1\|dJ579F20.2	ABCB5alpha\|ABCB5beta\|EST422562
	Cytomap	20q13.31	7p21.1
	Type of gene	protein-coding	protein-coding
	Description	transcriptional repressor CTCFLBORIS-like proteinbrother of the regulator of imprinted sitescancer/testis antigen 27	ATP-binding cassette sub-family B member 5ABCB5 P-gpATP-binding cassette proteinATP-binding cassette, sub-family B (MDR/TAP), member 5P-glycoprotein ABCB5
	Modification date	20200313	20200313
	UniProtAcc	Q8NI51	Q2M3G0
	Ensembl transtripts involved in fusion gene	ENST00000433949, ENST00000502686, ENST00000608440, ENST00000243914, ENST00000371196, ENST00000422869, ENST00000423479, ENST00000429804, ENST00000432255, ENST00000481655, ENST00000539382, ENST00000608158, ENST00000608263, ENST00000608425, ENST00000608858, ENST00000608903, ENST00000609232,	ENST00000258738, ENST00000404938, ENST00000406935, ENST00000443026, ENST00000477094,
Fusion gene scores	* DoF score	3 X 3 X 2=18	8 X 7 X 5=280
	# samples	3	8
	** MAII score	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CTCFL [Title/Abstract] AND ABCB5 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CTCFL(56074610)-ABCB5(20800007), # samples:10
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	CTCFL	GO:0010628	positive regulation of gene expression	18413740
Hgene	CTCFL	GO:0045893	positive regulation of transcription, DNA-templated	18413740
Hgene	CTCFL	GO:0045944	positive regulation of transcription by RNA polymerase II	16140944
Tgene	ABCB5	GO:0042391	regulation of membrane potential	12960149
Tgene	ABCB5	GO:0055085	transmembrane transport	12960149

Fusion gene breakpoints across CTCFL (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 ABCB5 (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
ChiTaRS5.0	N/A	DQ778115	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
ChiTaRS5.0	N/A	DQ778116	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
ChiTaRS5.0	N/A	DQ778117	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
ChiTaRS5.0	N/A	DQ778118	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
ChiTaRS5.0	N/A	DQ778124	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
ChiTaRS5.0	N/A	DQ778125	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
ChiTaRS5.0	N/A	NM_001269044	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
ChiTaRS5.0	N/A	NM_001269049	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
ChiTaRS5.0	N/A	NM_001269054	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
ChiTaRS5.0	N/A	NR_072975	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+

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Fusion Gene ORF analysis for CTCFL-ABCB5

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	ENST00000433949	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000433949	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000433949	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000433949	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000433949	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000502686	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000502686	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000502686	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000502686	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000502686	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000608440	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000608440	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000608440	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000608440	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
5CDS-intron	ENST00000608440	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000243914	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000243914	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000243914	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000243914	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000243914	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000371196	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000371196	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000371196	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000371196	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000371196	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000422869	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000422869	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000422869	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000422869	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000422869	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000423479	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000423479	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000423479	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000423479	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000423479	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000429804	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000429804	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000429804	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000429804	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000429804	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000432255	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000432255	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000432255	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000432255	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000432255	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000481655	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000481655	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000481655	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000481655	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000481655	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000539382	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000539382	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000539382	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000539382	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000539382	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608158	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608158	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608158	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608158	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608158	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608263	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608263	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608263	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608263	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608263	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608425	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608425	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608425	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608425	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608425	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608858	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608858	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608858	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608858	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608858	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608903	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608903	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608903	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608903	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000608903	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000609232	ENST00000258738	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000609232	ENST00000404938	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000609232	ENST00000406935	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000609232	ENST00000443026	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+
intron-intron	ENST00000609232	ENST00000477094	CTCFL	chr20	56074610	-	ABCB5	chr7	20800007	+

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)

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

Top

Fusion Genomic Features for CTCFL-ABCB5

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CTCFL-ABCB5

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:56074610/:20800007)
- 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
CTCFL Q8NI51	ABCB5 Q2M3G0
FUNCTION: Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 'Arg-3' to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3 lysine 4 (H3K4me2) of MYC and BRCA1 promoters. {ECO:0000250, ECO:0000269\|PubMed:12011441, ECO:0000269\|PubMed:18413740, ECO:0000269\|PubMed:18765639}.	FUNCTION: Energy-dependent efflux transporter responsible for decreased drug accumulation in multidrug-resistant cells (PubMed:12960149, PubMed:22306008, PubMed:15899824, PubMed:15205344). Specifically present in limbal stem cells, where it plays a key role in corneal development and repair (By similarity). {ECO:0000250\|UniProtKB:B5X0E4, ECO:0000269\|PubMed:12960149, ECO:0000269\|PubMed:15205344, ECO:0000269\|PubMed:15899824, ECO:0000269\|PubMed:22306008}.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page

* Minus value of BPloci means that the break pointn is located before the CDS.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for CTCFL-ABCB5

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.

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Fusion Gene PPI Analysis for CTCFL-ABCB5

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for CTCFL-ABCB5

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 CTCFL-ABCB5

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source