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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:EHD1-ADRBK2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: EHD1-ADRBK2
	FusionPDB ID: 25546
	FusionGDB2.0 ID: 25551
		Hgene	Tgene
	Gene symbol	EHD1	ADRBK2
	Gene ID	10938	157
	Gene name	EH domain containing 1	G protein-coupled receptor kinase 3
	Synonyms	H-PAST\|HPAST1\|PAST\|PAST1	ADRBK2\|BARK2
	Cytomap	11q13.1	22q12.1
	Type of gene	protein-coding	protein-coding
	Description	EH domain-containing protein 1PAST homolog 1testilin	beta-adrenergic receptor kinase 2adrenergic, beta, receptor kinase 2beta-ARK-2
	Modification date	20200329	20200313
	UniProtAcc	Q9H4M9	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000359393, ENST00000320631, ENST00000488711,	ENST00000324198,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	6 X 7 X 6=252	3 X 2 X 3=18
	# samples	8	3
	** MAII score	log2(8/252*10)=-1.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: EHD1 [Title/Abstract] AND ADRBK2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	EHD1(64627396)-ADRBK2(26057543), # samples:2
Anticipated loss of major functional domain due to fusion event.	EHD1-ADRBK2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. EHD1-ADRBK2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. EHD1-ADRBK2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. EHD1-ADRBK2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. EHD1-ADRBK2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. EHD1-ADRBK2 seems lost the major protein functional domain in Tgene partner, which is a kinase 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	ADRBK2	GO:0031623	receptor internalization	20074556

Fusion gene breakpoints across EHD1 (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 ADRBK2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	LGG	TCGA-HT-7686-01A	EHD1	chr11	64627396	-	ADRBK2	chr22	26057543	+
ChimerDB4	LGG	TCGA-HT-7686	EHD1	chr11	64627396	-	ADRBK2	chr22	26057543	+

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)

ENST00000320631

EHD1

chr11

64627396

ENST00000324198

ADRBK2

chr22

26057543

9817

1170

123

2972

949

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
ENST00000320631	ENST00000324198	EHD1	chr11	64627396	-	ADRBK2	chr22	26057543	+	0.000148637	0.99985135

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>25546_25546_1_EHD1-ADRBK2_EHD1_chr11_64627396_ENST00000320631_ADRBK2_chr22_26057543_ENST00000324198_length(amino acids)=949AA_BP=349
MGCAPAQCGSLPIPCPGRPRLGSAPSPRSQPPLCPAAASPVSGSMFSWVSKDARRKKEPELFQTVAEGLRQLYAQKLLPLEEHYRFHEFH
SPALEDADFDNKPMVLLVGQYSTGKTTFIRHLIEQDFPGMRIGPEPTTDSFIAVMHGPTEGVVPGNALVVDPRRPFRKLNAFGNAFLNRF
MCAQLPNPVLDSISIIDTPGILSGEKQRISRGYDFAAVLEWFAERVDRIILLFDAHKLDISDEFSEVIKALKNHEDKIRVVLNKADQIET
QQLMRVYGALMWSLGKIINTPEVVRVYIGSFWSHPLLIPDNRKLFEAEEQDLFKDIQSLPRNAALRKLNDLIKRARLAKIKEYEKLDNEE
DRLCRSRQIYDAYIMKELLSCSHPFSKQAVEHVQSHLSKKQVTSTLFQPYIEEICESLRGDIFQKFMESDKFTRFCQWKNVELNIHLTMN
EFSVHRIIGRGGFGEVYGCRKADTGKMYAMKCLDKKRIKMKQGETLALNERIMLSLVSTGDCPFIVCMTYAFHTPDKLCFILDLMNGGDL
HYHLSQHGVFSEKEMRFYATEIILGLEHMHNRFVVYRDLKPANILLDEHGHARISDLGLACDFSKKKPHASVGTHGYMAPEVLQKGTAYD
SSADWFSLGCMLFKLLRGHSPFRQHKTKDKHEIDRMTLTVNVELPDTFSPELKSLLEGLLQRDVSKRLGCHGGGSQEVKEHSFFKGVDWQ
HVYLQKYPPPLIPPRGEVNAADAFDIGSFDEEDTKGIKLLDCDQELYKNFPLVISERWQQEVTETVYEAVNADTDKIEARKRAKNKQLGH
EEDYALGKDCIMHGYMLKLGNPFLTQWQRRYFYLFPNRLEWRGEGESRQNLLTMEQILSVEETQIKDKKCILFRIKGGKQFVLQCESDPE

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

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:64627396/chr22:26057543)
- 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
EHD1 Q9H4M9	.
FUNCTION: ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes vesiculation of endocytic membranes (PubMed:24019528). Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle (CV), an early step in cilium biogenesis. Proposed to be required for the fusion of distal appendage vesicles (DAVs) to form the CV by recruiting SNARE complex component SNAP29. Is required for recruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67 and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss of CCP110 form the mother centriole essential for the maturation of the basal body during ciliogenesis (PubMed:25686250). {ECO:0000250\|UniProtKB:Q641Z6, ECO:0000250\|UniProtKB:Q9WVK4, ECO:0000269\|PubMed:15020713, ECO:0000269\|PubMed:17233914, ECO:0000269\|PubMed:20801876, ECO:0000269\|PubMed:24019528, ECO:0000269\|PubMed:25686250}.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.

- 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

EHD1

chr11:64627396

chr22:26057543

ENST00000320631

198_227

305.0

535.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000359393

198_227

305.0

535.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000320631

55_286

305.0

535.0

Domain

Dynamin-type G

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000359393

55_286

305.0

535.0

Domain

Dynamin-type G

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000320631

153_156

305.0

535.0

Region

G3 motif

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000320631

219_222

305.0

535.0

Region

G4 motif

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000320631

243_243

305.0

535.0

Region

G5 motif

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000320631

65_72

305.0

535.0

Region

G1 motif

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000320631

91_92

305.0

535.0

Region

G2 motif

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000359393

153_156

305.0

535.0

Region

G3 motif

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000359393

219_222

305.0

535.0

Region

G4 motif

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000359393

243_243

305.0

535.0

Region

G5 motif

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000359393

65_72

305.0

535.0

Region

G1 motif

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000359393

91_92

305.0

535.0

Region

G2 motif

Tgene

ADRBK2

chr11:64627396

chr22:26057543

ENST00000324198

191_453

88.0

689.0

Domain

Protein kinase

Tgene

ADRBK2

chr11:64627396

chr22:26057543

ENST00000324198

454_521

88.0

689.0

Domain

AGC-kinase C-terminal

Tgene

ADRBK2

chr11:64627396

chr22:26057543

ENST00000324198

558_652

88.0

689.0

Domain

Tgene

ADRBK2

chr11:64627396

chr22:26057543

ENST00000324198

197_205

88.0

689.0

Nucleotide binding

ATP

- 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

EHD1

chr11:64627396

chr22:26057543

ENST00000320631

489_500

305.0

535.0

Calcium binding

Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000359393

489_500

305.0

535.0

Calcium binding

Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000320631

444_532

305.0

535.0

Domain

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000320631

476_511

305.0

535.0

Domain

EF-hand

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000359393

444_532

305.0

535.0

Domain

Hgene

EHD1

chr11:64627396

chr22:26057543

ENST00000359393

476_511

305.0

535.0

Domain

EF-hand

Tgene

ADRBK2

chr11:64627396

chr22:26057543

ENST00000324198

54_175

88.0

689.0

Domain

RGS

Tgene

ADRBK2

chr11:64627396

chr22:26057543

ENST00000324198

1_190

88.0

689.0

Region

Note=N-terminal

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1746_EHD1_64627396_ADRBK2_26057543_ranked_0.pdb	EHD1	64627396	64627396	ENST00000324198	ADRBK2	chr22	26057543	+	MGCAPAQCGSLPIPCPGRPRLGSAPSPRSQPPLCPAAASPVSGSMFSWVSKDARRKKEPELFQTVAEGLRQLYAQKLLPLEEHYRFHEFH SPALEDADFDNKPMVLLVGQYSTGKTTFIRHLIEQDFPGMRIGPEPTTDSFIAVMHGPTEGVVPGNALVVDPRRPFRKLNAFGNAFLNRF MCAQLPNPVLDSISIIDTPGILSGEKQRISRGYDFAAVLEWFAERVDRIILLFDAHKLDISDEFSEVIKALKNHEDKIRVVLNKADQIET QQLMRVYGALMWSLGKIINTPEVVRVYIGSFWSHPLLIPDNRKLFEAEEQDLFKDIQSLPRNAALRKLNDLIKRARLAKIKEYEKLDNEE DRLCRSRQIYDAYIMKELLSCSHPFSKQAVEHVQSHLSKKQVTSTLFQPYIEEICESLRGDIFQKFMESDKFTRFCQWKNVELNIHLTMN EFSVHRIIGRGGFGEVYGCRKADTGKMYAMKCLDKKRIKMKQGETLALNERIMLSLVSTGDCPFIVCMTYAFHTPDKLCFILDLMNGGDL HYHLSQHGVFSEKEMRFYATEIILGLEHMHNRFVVYRDLKPANILLDEHGHARISDLGLACDFSKKKPHASVGTHGYMAPEVLQKGTAYD SSADWFSLGCMLFKLLRGHSPFRQHKTKDKHEIDRMTLTVNVELPDTFSPELKSLLEGLLQRDVSKRLGCHGGGSQEVKEHSFFKGVDWQ HVYLQKYPPPLIPPRGEVNAADAFDIGSFDEEDTKGIKLLDCDQELYKNFPLVISERWQQEVTETVYEAVNADTDKIEARKRAKNKQLGH EEDYALGKDCIMHGYMLKLGNPFLTQWQRRYFYLFPNRLEWRGEGESRQNLLTMEQILSVEETQIKDKKCILFRIKGGKQFVLQCESDPE	949

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

EHD1_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
EHD1
ADRBK2

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to EHD1-ADRBK2

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to EHD1-ADRBK2

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source