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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:EPB41L1-PHF20 (FusionGDB2 ID:26820)

Fusion Gene Summary for EPB41L1-PHF20

check button Fusion gene summary
Fusion gene informationFusion gene name: EPB41L1-PHF20
Fusion gene ID: 26820
HgeneTgene
Gene symbol

EPB41L1

PHF20

Gene ID

2036

51230

Gene nameerythrocyte membrane protein band 4.1 like 1PHD finger protein 20
Synonyms4.1N|MRD11C20orf104|GLEA2|HCA58|NZF|TDRD20A|TZP
Cytomap

20q11.23

20q11.22-q11.23

Type of geneprotein-codingprotein-coding
Descriptionband 4.1-like protein 1neuron-type nonerythroid protein 4.1neuronal protein 4.1PHD finger protein 20glioma-expressed antigen 2hepatocellular carcinoma-associated antigen 58novel zinc finger proteintranscription factor TZPtudor domain containing 20A
Modification date2020031320200313
UniProtAcc

Q9H4G0

.
Ensembl transtripts involved in fusion geneENST00000373946, ENST00000338074, 
ENST00000441639, ENST00000202028, 
ENST00000373950, ENST00000373941, 
ENST00000479336, 		ENST00000439301, 
ENST00000481202, ENST00000374012, 
Fusion gene scores* DoF score24 X 23 X 12=662426 X 25 X 15=9750
# samples 3432
** MAII scorelog2(34/6624*10)=-4.28409602136162
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(32/9750*10)=-4.92925840863697
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPB41L1 [Title/Abstract] AND PHF20 [Title/Abstract] AND fusion [Title/Abstract]

The landscape and therapeutic relevance of cancer-associated transcript fusions (pmid: 25500544)
Most frequent breakpointEPB41L1(34700402)-PHF20(34430495), # samples:3
PHF20(34430666)-EPB41L1(34800194), # samples:2
PHF20(34389527)-EPB41L1(34785781), # samples:2
PHF20(34389527)-EPB41L1(34763473), # samples:2
Anticipated loss of major functional domain due to fusion event.EPB41L1-PHF20 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
EPB41L1-PHF20 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
EPB41L1-PHF20 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
EPB41L1-PHF20 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
PHF20-EPB41L1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
PHF20-EPB41L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PHF20-EPB41L1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
PHF20-EPB41L1 seems lost the major protein functional domain in Tgene 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePHF20

GO:0043981

histone H4-K5 acetylation

20018852

TgenePHF20

GO:0043982

histone H4-K8 acetylation

20018852

TgenePHF20

GO:0043984

histone H4-K16 acetylation

20018852


check buttonFusion gene breakpoints across EPB41L1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PHF20 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4KIRCTCGA-B0-4811-01AEPB41L1chr20

34713449

-PHF20chr20

34430495

+
ChimerDB4KIRCTCGA-B0-4811-01AEPB41L1chr20

34713449

+PHF20chr20

34430495

+
ChimerDB4STADTCGA-CD-A4MH-01AEPB41L1chr20

34680735

+PHF20chr20

34487292

+
ChimerDB4STADTCGA-CD-A4MH-01AEPB41L1chr20

34680735

+PHF20chr20

34501171

+
ChimerDB4STADTCGA-CD-A4MH-01AEPB41L1chr20

34700402

+PHF20chr20

34487292

+
ChimerDB4STADTCGA-CD-A4MH-01AEPB41L1chr20

34700402

+PHF20chr20

34501171

+
ChimerDB4STADTCGA-CD-A4MH-01AEPB41L1chr20

34709738

+PHF20chr20

34501171

+
ChimerDB4STADTCGA-CD-A4MH-01AEPB41L1chr20

34710669

+PHF20chr20

34487292

+
ChimerDB4STADTCGA-CD-A4MH-01AEPB41L1chr20

34713449

+PHF20chr20

34487292

+
ChimerDB4STADTCGA-FP-8631-01AEPB41L1chr20

34680735

-PHF20chr20

34501171

+
ChimerDB4STADTCGA-VQ-A925-01AEPB41L1chr20

34700402

+PHF20chr20

34430495

+
ChimerDB4STADTCGA-VQ-A925EPB41L1chr20

34700402

+PHF20chr20

34430494

+
ChimerDB4UCSTCGA-N8-A4PO-01AEPB41L1chr20

34700402

+PHF20chr20

34430495

+
ChimerDB4UCSTCGA-N8-A4PO-01AEPB41L1chr20

34820721

-PHF20chr20

34437311

+
ChiTaRS5.0N/AEI707036EPB41L1chr20

34691803

-PHF20chr20

34485124

-


Top

Fusion Gene ORF analysis for EPB41L1-PHF20

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000373946ENST00000439301EPB41L1chr20

34713449

+PHF20chr20

34487292

+
5CDS-3UTRENST00000373946ENST00000481202EPB41L1chr20

34713449

+PHF20chr20

34430495

+
5CDS-3UTRENST00000373946ENST00000481202EPB41L1chr20

34713449

+PHF20chr20

34487292

+
5CDS-intronENST00000338074ENST00000374012EPB41L1chr20

34820721

-PHF20chr20

34437311

+
5CDS-intronENST00000338074ENST00000439301EPB41L1chr20

34820721

-PHF20chr20

34437311

+
5CDS-intronENST00000338074ENST00000481202EPB41L1chr20

34820721

-PHF20chr20

34437311

+
5CDS-intronENST00000373946ENST00000374012EPB41L1chr20

34820721

-PHF20chr20

34437311

+
5CDS-intronENST00000373946ENST00000439301EPB41L1chr20

34820721

-PHF20chr20

34437311

+
5CDS-intronENST00000373946ENST00000481202EPB41L1chr20

34820721

-PHF20chr20

34437311

+
5CDS-intronENST00000441639ENST00000374012EPB41L1chr20

34820721

-PHF20chr20

34437311

+
5CDS-intronENST00000441639ENST00000439301EPB41L1chr20

34820721

-PHF20chr20

34437311

+
5CDS-intronENST00000441639ENST00000481202EPB41L1chr20

34820721

-PHF20chr20

34437311

+
5UTR-3CDSENST00000202028ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34487292

+
5UTR-3CDSENST00000202028ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34501171

+
5UTR-3CDSENST00000202028ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430495

+
5UTR-3CDSENST00000202028ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430494

+
5UTR-3CDSENST00000202028ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430495

+
5UTR-3CDSENST00000202028ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430494

+
5UTR-3CDSENST00000373950ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34487292

+
5UTR-3CDSENST00000373950ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34501171

+
5UTR-3CDSENST00000373950ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34487292

+
5UTR-3CDSENST00000373950ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34501171

+
5UTR-3CDSENST00000373950ENST00000374012EPB41L1chr20

34709738

+PHF20chr20

34501171

+
5UTR-3CDSENST00000373950ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430495

+
5UTR-3CDSENST00000373950ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430494

+
5UTR-3CDSENST00000373950ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430495

+
5UTR-3CDSENST00000373950ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430494

+
5UTR-3CDSENST00000441639ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34487292

+
5UTR-3CDSENST00000441639ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34501171

+
5UTR-3CDSENST00000441639ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430495

+
5UTR-3CDSENST00000441639ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430494

+
5UTR-3CDSENST00000441639ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430495

+
5UTR-3CDSENST00000441639ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430494

+
5UTR-3UTRENST00000202028ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34487292

+
5UTR-3UTRENST00000202028ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34501171

+
5UTR-3UTRENST00000202028ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34487292

+
5UTR-3UTRENST00000202028ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34501171

+
5UTR-3UTRENST00000202028ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34430495

+
5UTR-3UTRENST00000202028ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34430494

+
5UTR-3UTRENST00000373950ENST00000439301EPB41L1chr20

34680735

+PHF20chr20

34487292

+
5UTR-3UTRENST00000373950ENST00000439301EPB41L1chr20

34680735

+PHF20chr20

34501171

+
5UTR-3UTRENST00000373950ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34487292

+
5UTR-3UTRENST00000373950ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34501171

+
5UTR-3UTRENST00000373950ENST00000439301EPB41L1chr20

34709738

+PHF20chr20

34501171

+
5UTR-3UTRENST00000373950ENST00000481202EPB41L1chr20

34680735

+PHF20chr20

34487292

+
5UTR-3UTRENST00000373950ENST00000481202EPB41L1chr20

34680735

+PHF20chr20

34501171

+
5UTR-3UTRENST00000373950ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34487292

+
5UTR-3UTRENST00000373950ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34501171

+
5UTR-3UTRENST00000373950ENST00000481202EPB41L1chr20

34709738

+PHF20chr20

34501171

+
5UTR-3UTRENST00000373950ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34430495

+
5UTR-3UTRENST00000373950ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34430494

+
5UTR-3UTRENST00000441639ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34487292

+
5UTR-3UTRENST00000441639ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34501171

+
5UTR-3UTRENST00000441639ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34487292

+
5UTR-3UTRENST00000441639ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34501171

+
5UTR-3UTRENST00000441639ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34430495

+
5UTR-3UTRENST00000441639ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34430494

+
Frame-shiftENST00000373946ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34430495

+
Frame-shiftENST00000373946ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34487292

+
Frame-shiftENST00000373946ENST00000439301EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000202028ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000202028ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3CDSENST00000202028ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3CDSENST00000202028ENST00000374012EPB41L1chr20

34709738

+PHF20chr20

34501171

+
intron-3CDSENST00000202028ENST00000374012EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3CDSENST00000202028ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3CDSENST00000202028ENST00000439301EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000338074ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000338074ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3CDSENST00000338074ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3CDSENST00000338074ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34487292

+
intron-3CDSENST00000338074ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34501171

+
intron-3CDSENST00000338074ENST00000374012EPB41L1chr20

34709738

+PHF20chr20

34501171

+
intron-3CDSENST00000338074ENST00000374012EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3CDSENST00000338074ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3CDSENST00000338074ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430495

+
intron-3CDSENST00000338074ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430494

+
intron-3CDSENST00000338074ENST00000439301EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000338074ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430495

+
intron-3CDSENST00000338074ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430494

+
intron-3CDSENST00000373941ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000373941ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3CDSENST00000373941ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3CDSENST00000373941ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34487292

+
intron-3CDSENST00000373941ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34501171

+
intron-3CDSENST00000373941ENST00000374012EPB41L1chr20

34709738

+PHF20chr20

34501171

+
intron-3CDSENST00000373941ENST00000374012EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3CDSENST00000373941ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3CDSENST00000373941ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430495

+
intron-3CDSENST00000373941ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430494

+
intron-3CDSENST00000373941ENST00000439301EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000373941ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430495

+
intron-3CDSENST00000373941ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430494

+
intron-3CDSENST00000373946ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3CDSENST00000373946ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3CDSENST00000373946ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34487292

+
intron-3CDSENST00000373946ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34501171

+
intron-3CDSENST00000373946ENST00000374012EPB41L1chr20

34709738

+PHF20chr20

34501171

+
intron-3CDSENST00000373946ENST00000374012EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3CDSENST00000373946ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430495

+
intron-3CDSENST00000373946ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430494

+
intron-3CDSENST00000373946ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430495

+
intron-3CDSENST00000373946ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430494

+
intron-3CDSENST00000373950ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000373950ENST00000374012EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3CDSENST00000373950ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3CDSENST00000373950ENST00000439301EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000441639ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000441639ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3CDSENST00000441639ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3CDSENST00000441639ENST00000374012EPB41L1chr20

34709738

+PHF20chr20

34501171

+
intron-3CDSENST00000441639ENST00000374012EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3CDSENST00000441639ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3CDSENST00000441639ENST00000439301EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000479336ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000479336ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3CDSENST00000479336ENST00000374012EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3CDSENST00000479336ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34487292

+
intron-3CDSENST00000479336ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34501171

+
intron-3CDSENST00000479336ENST00000374012EPB41L1chr20

34709738

+PHF20chr20

34501171

+
intron-3CDSENST00000479336ENST00000374012EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3CDSENST00000479336ENST00000374012EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3CDSENST00000479336ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430495

+
intron-3CDSENST00000479336ENST00000374012EPB41L1chr20

34700402

+PHF20chr20

34430494

+
intron-3CDSENST00000479336ENST00000439301EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3CDSENST00000479336ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430495

+
intron-3CDSENST00000479336ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34430494

+
intron-3UTRENST00000202028ENST00000439301EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3UTRENST00000202028ENST00000439301EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3UTRENST00000202028ENST00000439301EPB41L1chr20

34709738

+PHF20chr20

34501171

+
intron-3UTRENST00000202028ENST00000439301EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3UTRENST00000202028ENST00000439301EPB41L1chr20

34713449

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34487292

+
intron-3UTRENST00000202028ENST00000481202EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3UTRENST00000202028ENST00000481202EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3UTRENST00000202028ENST00000481202EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3UTRENST00000202028ENST00000481202EPB41L1chr20

34709738

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34501171

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intron-3UTRENST00000202028ENST00000481202EPB41L1chr20

34710669

+PHF20chr20

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+
intron-3UTRENST00000202028ENST00000481202EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3UTRENST00000338074ENST00000439301EPB41L1chr20

34680735

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+
intron-3UTRENST00000338074ENST00000439301EPB41L1chr20

34680735

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34501171

+
intron-3UTRENST00000338074ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

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+
intron-3UTRENST00000338074ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

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+
intron-3UTRENST00000338074ENST00000439301EPB41L1chr20

34709738

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intron-3UTRENST00000338074ENST00000439301EPB41L1chr20

34710669

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+
intron-3UTRENST00000338074ENST00000439301EPB41L1chr20

34713449

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intron-3UTRENST00000338074ENST00000481202EPB41L1chr20

34713449

+PHF20chr20

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+
intron-3UTRENST00000338074ENST00000481202EPB41L1chr20

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intron-3UTRENST00000338074ENST00000481202EPB41L1chr20

34680735

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+
intron-3UTRENST00000338074ENST00000481202EPB41L1chr20

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intron-3UTRENST00000338074ENST00000481202EPB41L1chr20

34700402

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intron-3UTRENST00000338074ENST00000481202EPB41L1chr20

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intron-3UTRENST00000338074ENST00000481202EPB41L1chr20

34710669

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34487292

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intron-3UTRENST00000338074ENST00000481202EPB41L1chr20

34713449

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34487292

+
intron-3UTRENST00000338074ENST00000481202EPB41L1chr20

34700402

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34430495

+
intron-3UTRENST00000338074ENST00000481202EPB41L1chr20

34700402

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intron-3UTRENST00000373941ENST00000439301EPB41L1chr20

34680735

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34487292

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intron-3UTRENST00000373941ENST00000439301EPB41L1chr20

34680735

+PHF20chr20

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+
intron-3UTRENST00000373941ENST00000439301EPB41L1chr20

34700402

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34487292

+
intron-3UTRENST00000373941ENST00000439301EPB41L1chr20

34700402

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34501171

+
intron-3UTRENST00000373941ENST00000439301EPB41L1chr20

34709738

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34501171

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intron-3UTRENST00000373941ENST00000439301EPB41L1chr20

34710669

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34487292

+
intron-3UTRENST00000373941ENST00000439301EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3UTRENST00000373941ENST00000481202EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3UTRENST00000373941ENST00000481202EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3UTRENST00000373941ENST00000481202EPB41L1chr20

34680735

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intron-3UTRENST00000373941ENST00000481202EPB41L1chr20

34700402

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intron-3UTRENST00000373941ENST00000481202EPB41L1chr20

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intron-3UTRENST00000373941ENST00000481202EPB41L1chr20

34709738

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intron-3UTRENST00000373941ENST00000481202EPB41L1chr20

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intron-3UTRENST00000373941ENST00000481202EPB41L1chr20

34713449

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intron-3UTRENST00000373941ENST00000481202EPB41L1chr20

34700402

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intron-3UTRENST00000373941ENST00000481202EPB41L1chr20

34700402

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intron-3UTRENST00000373946ENST00000439301EPB41L1chr20

34680735

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intron-3UTRENST00000373946ENST00000439301EPB41L1chr20

34680735

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intron-3UTRENST00000373946ENST00000439301EPB41L1chr20

34700402

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intron-3UTRENST00000373946ENST00000439301EPB41L1chr20

34700402

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34501171

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intron-3UTRENST00000373946ENST00000439301EPB41L1chr20

34709738

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34501171

+
intron-3UTRENST00000373946ENST00000439301EPB41L1chr20

34710669

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34487292

+
intron-3UTRENST00000373946ENST00000481202EPB41L1chr20

34680735

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34487292

+
intron-3UTRENST00000373946ENST00000481202EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3UTRENST00000373946ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34487292

+
intron-3UTRENST00000373946ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34501171

+
intron-3UTRENST00000373946ENST00000481202EPB41L1chr20

34709738

+PHF20chr20

34501171

+
intron-3UTRENST00000373946ENST00000481202EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3UTRENST00000373946ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34430495

+
intron-3UTRENST00000373946ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34430494

+
intron-3UTRENST00000373950ENST00000439301EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3UTRENST00000373950ENST00000439301EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3UTRENST00000373950ENST00000481202EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3UTRENST00000373950ENST00000481202EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3UTRENST00000373950ENST00000481202EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3UTRENST00000441639ENST00000439301EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3UTRENST00000441639ENST00000439301EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3UTRENST00000441639ENST00000439301EPB41L1chr20

34709738

+PHF20chr20

34501171

+
intron-3UTRENST00000441639ENST00000439301EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3UTRENST00000441639ENST00000439301EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3UTRENST00000441639ENST00000481202EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3UTRENST00000441639ENST00000481202EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3UTRENST00000441639ENST00000481202EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3UTRENST00000441639ENST00000481202EPB41L1chr20

34709738

+PHF20chr20

34501171

+
intron-3UTRENST00000441639ENST00000481202EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3UTRENST00000441639ENST00000481202EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3UTRENST00000479336ENST00000439301EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3UTRENST00000479336ENST00000439301EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3UTRENST00000479336ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34487292

+
intron-3UTRENST00000479336ENST00000439301EPB41L1chr20

34700402

+PHF20chr20

34501171

+
intron-3UTRENST00000479336ENST00000439301EPB41L1chr20

34709738

+PHF20chr20

34501171

+
intron-3UTRENST00000479336ENST00000439301EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3UTRENST00000479336ENST00000439301EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3UTRENST00000479336ENST00000481202EPB41L1chr20

34713449

+PHF20chr20

34430495

+
intron-3UTRENST00000479336ENST00000481202EPB41L1chr20

34680735

+PHF20chr20

34487292

+
intron-3UTRENST00000479336ENST00000481202EPB41L1chr20

34680735

+PHF20chr20

34501171

+
intron-3UTRENST00000479336ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34487292

+
intron-3UTRENST00000479336ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34501171

+
intron-3UTRENST00000479336ENST00000481202EPB41L1chr20

34709738

+PHF20chr20

34501171

+
intron-3UTRENST00000479336ENST00000481202EPB41L1chr20

34710669

+PHF20chr20

34487292

+
intron-3UTRENST00000479336ENST00000481202EPB41L1chr20

34713449

+PHF20chr20

34487292

+
intron-3UTRENST00000479336ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34430495

+
intron-3UTRENST00000479336ENST00000481202EPB41L1chr20

34700402

+PHF20chr20

34430494

+
intron-intronENST00000202028ENST00000374012EPB41L1chr20

34820721

-PHF20chr20

34437311

+
intron-intronENST00000202028ENST00000374012EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000202028ENST00000439301EPB41L1chr20

34820721

-PHF20chr20

34437311

+
intron-intronENST00000202028ENST00000439301EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000202028ENST00000481202EPB41L1chr20

34820721

-PHF20chr20

34437311

+
intron-intronENST00000202028ENST00000481202EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000338074ENST00000374012EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000338074ENST00000439301EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000338074ENST00000481202EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000373941ENST00000374012EPB41L1chr20

34820721

-PHF20chr20

34437311

+
intron-intronENST00000373941ENST00000374012EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000373941ENST00000439301EPB41L1chr20

34820721

-PHF20chr20

34437311

+
intron-intronENST00000373941ENST00000439301EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000373941ENST00000481202EPB41L1chr20

34820721

-PHF20chr20

34437311

+
intron-intronENST00000373941ENST00000481202EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000373946ENST00000374012EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000373946ENST00000439301EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000373946ENST00000481202EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000373950ENST00000374012EPB41L1chr20

34820721

-PHF20chr20

34437311

+
intron-intronENST00000373950ENST00000374012EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000373950ENST00000439301EPB41L1chr20

34820721

-PHF20chr20

34437311

+
intron-intronENST00000373950ENST00000439301EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000373950ENST00000481202EPB41L1chr20

34820721

-PHF20chr20

34437311

+
intron-intronENST00000373950ENST00000481202EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000441639ENST00000374012EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000441639ENST00000439301EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000441639ENST00000481202EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000479336ENST00000374012EPB41L1chr20

34820721

-PHF20chr20

34437311

+
intron-intronENST00000479336ENST00000374012EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000479336ENST00000439301EPB41L1chr20

34820721

-PHF20chr20

34437311

+
intron-intronENST00000479336ENST00000439301EPB41L1chr20

34691803

-PHF20chr20

34485124

-
intron-intronENST00000479336ENST00000481202EPB41L1chr20

34820721

-PHF20chr20

34437311

+
intron-intronENST00000479336ENST00000481202EPB41L1chr20

34691803

-PHF20chr20

34485124

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for EPB41L1-PHF20


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
EPB41L1chr2034709738+PHF20chr2034501170+0.0080577220.9919423
EPB41L1chr2034713449+PHF20chr2034487291+0.0003848480.9996151
EPB41L1chr2034713449+PHF20chr2034430494+7.40E-050.999926
EPB41L1chr2034700402+PHF20chr2034501170+3.55E-050.9999645
EPB41L1chr2034680735+PHF20chr2034501170+9.41E-070.99999905
EPB41L1chr2034700402+PHF20chr2034487291+1.56E-070.9999999
EPB41L1chr2034700402+PHF20chr2034430494+3.11E-081
EPB41L1chr2034700402+PHF20chr2034430494+3.11E-081
EPB41L1chr2034680735+PHF20chr2034487291+5.54E-091
EPB41L1chr2034709738+PHF20chr2034501170+0.0080577220.9919423
EPB41L1chr2034713449+PHF20chr2034487291+0.0003848480.9996151
EPB41L1chr2034713449+PHF20chr2034430494+7.40E-050.999926
EPB41L1chr2034700402+PHF20chr2034501170+3.55E-050.9999645
EPB41L1chr2034680735+PHF20chr2034501170+9.41E-070.99999905
EPB41L1chr2034700402+PHF20chr2034487291+1.56E-070.9999999
EPB41L1chr2034700402+PHF20chr2034430494+3.11E-081
EPB41L1chr2034700402+PHF20chr2034430494+3.11E-081
EPB41L1chr2034680735+PHF20chr2034487291+5.54E-091

check buttonDistribution 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.

check buttonDistribution 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.
genomic feature of top 1%

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Fusion Protein Features for EPB41L1-PHF20


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:34700402/:34430495)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPB41L1

Q9H4G0

.
FUNCTION: May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases.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}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for EPB41L1-PHF20


check button 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 EPB41L1-PHF20


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for EPB41L1-PHF20


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for EPB41L1-PHF20


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource