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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:EGFR-KLK2 (FusionGDB2 ID:25461)

Fusion Gene Summary for EGFR-KLK2

Fusion gene summary

Fusion gene information	Fusion gene name: EGFR-KLK2
	Fusion gene ID: 25461
		Hgene	Tgene
	Gene symbol	EGFR	KLK2
	Gene ID	1956	3817
	Gene name	epidermal growth factor receptor	kallikrein related peptidase 2
	Synonyms	ERBB\|ERBB1\|HER1\|NISBD2\|PIG61\|mENA	KLK2A2\|hGK-1\|hK2
	Cytomap	7p11.2	19q13.33
	Type of gene	protein-coding	protein-coding
	Description	epidermal growth factor receptoravian erythroblastic leukemia viral (v-erb-b) oncogene homologcell growth inhibiting protein 40cell proliferation-inducing protein 61epidermal growth factor receptor tyrosine kinase domainerb-b2 receptor tyrosine kinas	kallikrein-2glandular kallikrein 2glandular kallikrein-1kallikrein 2, prostatictissue kallikrein-2
	Modification date	20200329	20200313
	UniProtAcc	P00533	P20151
	Ensembl transtripts involved in fusion gene	ENST00000275493, ENST00000342916, ENST00000344576, ENST00000420316, ENST00000442591, ENST00000454757, ENST00000455089, ENST00000463948,	ENST00000325321, ENST00000358049, ENST00000391810, ENST00000597509,
Fusion gene scores	* DoF score	41 X 25 X 14=14350	15 X 20 X 2=600
	# samples	53	21
	** MAII score	log2(53/14350*10)=-4.75891456699985 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(21/600*10)=-1.51457317282976 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: EGFR [Title/Abstract] AND KLK2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	EGFR(55242541)-KLK2(51381663), # samples:1 EGFR(55242537)-KLK2(51381659), # 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	EGFR	GO:0001934	positive regulation of protein phosphorylation	20551055
Hgene	EGFR	GO:0007165	signal transduction	10572067
Hgene	EGFR	GO:0007166	cell surface receptor signaling pathway	7736574
Hgene	EGFR	GO:0007173	epidermal growth factor receptor signaling pathway	7736574\|12435727
Hgene	EGFR	GO:0008283	cell proliferation	17115032
Hgene	EGFR	GO:0008284	positive regulation of cell proliferation	7736574
Hgene	EGFR	GO:0010750	positive regulation of nitric oxide mediated signal transduction	12828935
Hgene	EGFR	GO:0018108	peptidyl-tyrosine phosphorylation	22732145
Hgene	EGFR	GO:0030307	positive regulation of cell growth	15467833
Hgene	EGFR	GO:0042177	negative regulation of protein catabolic process	17115032
Hgene	EGFR	GO:0042327	positive regulation of phosphorylation	15082764
Hgene	EGFR	GO:0043406	positive regulation of MAP kinase activity	10572067
Hgene	EGFR	GO:0045739	positive regulation of DNA repair	17115032
Hgene	EGFR	GO:0045740	positive regulation of DNA replication	17115032
Hgene	EGFR	GO:0045944	positive regulation of transcription by RNA polymerase II	20551055
Hgene	EGFR	GO:0050679	positive regulation of epithelial cell proliferation	10572067
Hgene	EGFR	GO:0050999	regulation of nitric-oxide synthase activity	12828935
Hgene	EGFR	GO:0070141	response to UV-A	18483258
Hgene	EGFR	GO:0070374	positive regulation of ERK1 and ERK2 cascade	20551055
Hgene	EGFR	GO:0071392	cellular response to estradiol stimulus	20551055
Hgene	EGFR	GO:1900020	positive regulation of protein kinase C activity	22732145
Hgene	EGFR	GO:1903078	positive regulation of protein localization to plasma membrane	22732145

Fusion gene breakpoints across EGFR (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 KLK2 (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	PRAD	TCGA-G9-6371	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
ChimerDB4	PRAD	TCGA-G9-6384	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+

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Fusion Gene ORF analysis for EGFR-KLK2

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
intron-3CDS	ENST00000275493	ENST00000325321	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000275493	ENST00000325321	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000275493	ENST00000358049	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000275493	ENST00000358049	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000275493	ENST00000391810	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000275493	ENST00000391810	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000342916	ENST00000325321	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000342916	ENST00000325321	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000342916	ENST00000358049	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000342916	ENST00000358049	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000342916	ENST00000391810	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000342916	ENST00000391810	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000344576	ENST00000325321	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000344576	ENST00000325321	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000344576	ENST00000358049	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000344576	ENST00000358049	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000344576	ENST00000391810	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000344576	ENST00000391810	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000420316	ENST00000325321	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000420316	ENST00000325321	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000420316	ENST00000358049	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000420316	ENST00000358049	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000420316	ENST00000391810	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000420316	ENST00000391810	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000442591	ENST00000325321	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000442591	ENST00000325321	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000442591	ENST00000358049	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000442591	ENST00000358049	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000442591	ENST00000391810	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000442591	ENST00000391810	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000454757	ENST00000325321	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000454757	ENST00000325321	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000454757	ENST00000358049	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000454757	ENST00000358049	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000454757	ENST00000391810	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000454757	ENST00000391810	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000455089	ENST00000325321	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000455089	ENST00000325321	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000455089	ENST00000358049	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000455089	ENST00000358049	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000455089	ENST00000391810	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000455089	ENST00000391810	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000463948	ENST00000325321	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000463948	ENST00000325321	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000463948	ENST00000358049	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000463948	ENST00000358049	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-3CDS	ENST00000463948	ENST00000391810	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-3CDS	ENST00000463948	ENST00000391810	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-intron	ENST00000275493	ENST00000597509	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-intron	ENST00000275493	ENST00000597509	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-intron	ENST00000342916	ENST00000597509	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-intron	ENST00000342916	ENST00000597509	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-intron	ENST00000344576	ENST00000597509	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-intron	ENST00000344576	ENST00000597509	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-intron	ENST00000420316	ENST00000597509	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-intron	ENST00000420316	ENST00000597509	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-intron	ENST00000442591	ENST00000597509	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-intron	ENST00000442591	ENST00000597509	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-intron	ENST00000454757	ENST00000597509	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-intron	ENST00000454757	ENST00000597509	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-intron	ENST00000455089	ENST00000597509	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-intron	ENST00000455089	ENST00000597509	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+
intron-intron	ENST00000463948	ENST00000597509	EGFR	chr7	55242537	+	KLK2	chr19	51381659	+
intron-intron	ENST00000463948	ENST00000597509	EGFR	chr7	55242541	+	KLK2	chr19	51381663	+

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

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Fusion Genomic Features for EGFR-KLK2

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 EGFR-KLK2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:55242541/:51381663)
- 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
EGFR P00533	KLK2 P20151
FUNCTION: Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:2790960, PubMed:10805725, PubMed:27153536). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:2790960, PubMed:7679104, PubMed:8144591, PubMed:9419975, PubMed:15611079, PubMed:12297049, PubMed:27153536, PubMed:20837704, PubMed:17909029). Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules (PubMed:27153536). May also activate the NF-kappa-B signaling cascade (PubMed:11116146). Also directly phosphorylates other proteins like RGS16, activating its GTPase activity and probably coupling the EGF receptor signaling to the G protein-coupled receptor signaling (PubMed:11602604). Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (PubMed:11483589). Positively regulates cell migration via interaction with CCDC88A/GIV which retains EGFR at the cell membrane following ligand stimulation, promoting EGFR signaling which triggers cell migration (PubMed:20462955). Plays a role in enhancing learning and memory performance (By similarity). {ECO:0000250\|UniProtKB:Q01279, ECO:0000269\|PubMed:10805725, ECO:0000269\|PubMed:11116146, ECO:0000269\|PubMed:11483589, ECO:0000269\|PubMed:11602604, ECO:0000269\|PubMed:12297049, ECO:0000269\|PubMed:12297050, ECO:0000269\|PubMed:12620237, ECO:0000269\|PubMed:12873986, ECO:0000269\|PubMed:15374980, ECO:0000269\|PubMed:15590694, ECO:0000269\|PubMed:15611079, ECO:0000269\|PubMed:17115032, ECO:0000269\|PubMed:17909029, ECO:0000269\|PubMed:19560417, ECO:0000269\|PubMed:20462955, ECO:0000269\|PubMed:20837704, ECO:0000269\|PubMed:21258366, ECO:0000269\|PubMed:27153536, ECO:0000269\|PubMed:2790960, ECO:0000269\|PubMed:7679104, ECO:0000269\|PubMed:8144591, ECO:0000269\|PubMed:9419975}.; FUNCTION: Isoform 2 may act as an antagonist of EGF action.; FUNCTION: (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins. {ECO:0000269\|PubMed:21516087}.	FUNCTION: Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin.

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 EGFR-KLK2

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 EGFR-KLK2

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 EGFR-KLK2

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 EGFR-KLK2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source