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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:RHBDD2-EGFR (FusionGDB2 ID:HG57414TG1956)

Fusion Gene Summary for RHBDD2-EGFR

check button Fusion gene summary
Fusion gene informationFusion gene name: RHBDD2-EGFR
Fusion gene ID: hg57414tg1956
HgeneTgene
Gene symbol

RHBDD2

EGFR

Gene ID

57414

1956

Gene namerhomboid domain containing 2epidermal growth factor receptor
SynonymsNPD007|RHBDL7ERBB|ERBB1|HER1|NISBD2|PIG61|mENA
Cytomap('RHBDD2')('EGFR')

7q11.23

7p11.2

Type of geneprotein-codingprotein-coding
Descriptionrhomboid domain-containing protein 2rhomboid, veinlet-like 7epidermal 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
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000006777, ENST00000318622, 
ENST00000428119, ENST00000468304, 
Fusion gene scores* DoF score9 X 6 X 4=21617 X 20 X 8=2720
# samples 922
** MAII scorelog2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(22/2720*10)=-3.62803122261304
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RHBDD2 [Title/Abstract] AND EGFR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRHBDD2(75513166)-EGFR(55111526), # 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)

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

GO:0001934

positive regulation of protein phosphorylation

20551055

TgeneEGFR

GO:0007165

signal transduction

10572067

TgeneEGFR

GO:0007166

cell surface receptor signaling pathway

7736574

TgeneEGFR

GO:0007173

epidermal growth factor receptor signaling pathway

7736574|12435727

TgeneEGFR

GO:0008283

cell proliferation

17115032

TgeneEGFR

GO:0008284

positive regulation of cell proliferation

7736574

TgeneEGFR

GO:0010750

positive regulation of nitric oxide mediated signal transduction

12828935

TgeneEGFR

GO:0018108

peptidyl-tyrosine phosphorylation

22732145

TgeneEGFR

GO:0030307

positive regulation of cell growth

15467833

TgeneEGFR

GO:0042177

negative regulation of protein catabolic process

17115032

TgeneEGFR

GO:0042327

positive regulation of phosphorylation

15082764

TgeneEGFR

GO:0043406

positive regulation of MAP kinase activity

10572067

TgeneEGFR

GO:0045739

positive regulation of DNA repair

17115032

TgeneEGFR

GO:0045740

positive regulation of DNA replication

17115032

TgeneEGFR

GO:0045944

positive regulation of transcription by RNA polymerase II

20551055

TgeneEGFR

GO:0050679

positive regulation of epithelial cell proliferation

10572067

TgeneEGFR

GO:0050999

regulation of nitric-oxide synthase activity

12828935

TgeneEGFR

GO:0070141

response to UV-A

18483258

TgeneEGFR

GO:0070374

positive regulation of ERK1 and ERK2 cascade

20551055

TgeneEGFR

GO:0071392

cellular response to estradiol stimulus

20551055

TgeneEGFR

GO:1900020

positive regulation of protein kinase C activity

22732145

TgeneEGFR

GO:1903078

positive regulation of protein localization to plasma membrane

22732145



check button Fusion gene information
* 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
ChimerDB4BLCATCGA-GU-A766-01ARHBDD2chr7

75513166

+EGFRchr7

55111526

+


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Fusion Gene ORF analysis for RHBDD2-EGFR

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-intronENST00000006777ENST00000275493RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000006777ENST00000342916RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000006777ENST00000344576RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000006777ENST00000420316RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000006777ENST00000442591RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000006777ENST00000454757RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000006777ENST00000455089RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000006777ENST00000463948RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000318622ENST00000275493RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000318622ENST00000342916RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000318622ENST00000344576RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000318622ENST00000420316RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000318622ENST00000442591RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000318622ENST00000454757RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000318622ENST00000455089RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000318622ENST00000463948RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000428119ENST00000275493RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000428119ENST00000342916RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000428119ENST00000344576RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000428119ENST00000420316RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000428119ENST00000442591RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000428119ENST00000454757RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000428119ENST00000455089RHBDD2chr7

75513166

+EGFRchr7

55111526

+
5CDS-intronENST00000428119ENST00000463948RHBDD2chr7

75513166

+EGFRchr7

55111526

+
intron-intronENST00000468304ENST00000275493RHBDD2chr7

75513166

+EGFRchr7

55111526

+
intron-intronENST00000468304ENST00000342916RHBDD2chr7

75513166

+EGFRchr7

55111526

+
intron-intronENST00000468304ENST00000344576RHBDD2chr7

75513166

+EGFRchr7

55111526

+
intron-intronENST00000468304ENST00000420316RHBDD2chr7

75513166

+EGFRchr7

55111526

+
intron-intronENST00000468304ENST00000442591RHBDD2chr7

75513166

+EGFRchr7

55111526

+
intron-intronENST00000468304ENST00000454757RHBDD2chr7

75513166

+EGFRchr7

55111526

+
intron-intronENST00000468304ENST00000455089RHBDD2chr7

75513166

+EGFRchr7

55111526

+
intron-intronENST00000468304ENST00000463948RHBDD2chr7

75513166

+EGFRchr7

55111526

+

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 RHBDD2-EGFR


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)


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Fusion Protein Features for RHBDD2-EGFR


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/:75513166/:55111526)
- 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
..
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}.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 RHBDD2-EGFR


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 RHBDD2-EGFR


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 RHBDD2-EGFR


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 RHBDD2-EGFR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0007131Non-Small Cell Lung Carcinoma16CGI;CTD_human
TgeneC0024121Lung Neoplasms7CGI;CTD_human
TgeneC0242379Malignant neoplasm of lung7CGI;CTD_human
TgeneC0006142Malignant neoplasm of breast6CTD_human
TgeneC0678222Breast Carcinoma6CTD_human
TgeneC1257931Mammary Neoplasms, Human6CTD_human
TgeneC1458155Mammary Neoplasms6CTD_human
TgeneC4704874Mammary Carcinoma, Human6CTD_human
TgeneC0001418Adenocarcinoma5CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell5CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic5CTD_human
TgeneC0205643Carcinoma, Cribriform5CTD_human
TgeneC0205644Carcinoma, Granular Cell5CTD_human
TgeneC0205645Adenocarcinoma, Tubular5CTD_human
TgeneC0334588Giant Cell Glioblastoma5CTD_human;ORPHANET
TgeneC0007137Squamous cell carcinoma3CTD_human
TgeneC0007873Uterine Cervical Neoplasm3CTD_human
TgeneC0014859Esophageal Neoplasms3CGI;CTD_human
TgeneC0017636Glioblastoma3CGI;CTD_human
TgeneC0018671Head and Neck Neoplasms3CGI;CTD_human
TgeneC0018675Head Neoplasms3CTD_human
TgeneC0024623Malignant neoplasm of stomach3CTD_human
TgeneC0027533Neck Neoplasms3CTD_human
TgeneC0027627Neoplasm Metastasis3CTD_human
TgeneC0033578Prostatic Neoplasms3CTD_human
TgeneC0038356Stomach Neoplasms3CTD_human
TgeneC0278996Malignant Head and Neck Neoplasm3CGI;CTD_human
TgeneC0376358Malignant neoplasm of prostate3CTD_human
TgeneC0546837Malignant neoplasm of esophagus3CGI;CTD_human
TgeneC0746787Cancer of Neck3CTD_human
TgeneC0751177Cancer of Head3CTD_human
TgeneC0887900Upper Aerodigestive Tract Neoplasms3CTD_human
TgeneC1621958Glioblastoma Multiforme3CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer3CTD_human
TgeneC4048328cervical cancer3CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder2CTD_human
TgeneC0005695Bladder Neoplasm2CTD_human
TgeneC0007102Malignant tumor of colon2CTD_human
TgeneC0009375Colonic Neoplasms2CTD_human
TgeneC0009402Colorectal Carcinoma2CTD_human
TgeneC0009404Colorectal Neoplasms2CTD_human
TgeneC0024668Mammary Neoplasms, Experimental2CTD_human
TgeneC0027626Neoplasm Invasiveness2CTD_human
TgeneC0027643Neoplasm Recurrence, Local2CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)2CGI;CTD_human
TgeneC0206726gliosarcoma2ORPHANET
TgeneC0919267ovarian neoplasm2CTD_human
TgeneC1140680Malignant neoplasm of ovary2CTD_human
TgeneC4015130INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 22CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0003865Arthritis, Adjuvant-Induced1CTD_human
TgeneC0005396Bile Duct Neoplasms1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0007113Rectal Carcinoma1CTD_human
TgeneC0007193Cardiomyopathy, Dilated1CTD_human
TgeneC0011603Dermatitis1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0014175Endometriosis1CTD_human
TgeneC0016978gallbladder neoplasm1CTD_human
TgeneC0021655Insulin Resistance1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024809Marijuana Abuse1PSYGENET
TgeneC0025500Mesothelioma1CTD_human
TgeneC0027439Nasopharyngeal Neoplasms1CTD_human
TgeneC0029463Osteosarcoma1CTD_human
TgeneC0030297Pancreatic Neoplasm1CTD_human
TgeneC0030354Papilloma1CTD_human
TgeneC0032580Adenomatous Polyposis Coli1CTD_human
TgeneC0034885Rectal Neoplasms1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0085548Autosomal Recessive Polycystic Kidney Disease1CTD_human
TgeneC0085762Alcohol abuse1PSYGENET
TgeneC0149925Small cell carcinoma of lung1CTD_human
TgeneC0153452Malignant neoplasm of gallbladder1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0205874Papilloma, Squamous Cell1CTD_human
TgeneC0205875Papillomatosis1CTD_human
TgeneC0206686Adrenocortical carcinoma1CTD_human
TgeneC0206698Cholangiocarcinoma1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0238301Cancer of Nasopharynx1CTD_human
TgeneC0263454Chloracne1CTD_human
TgeneC0269102Endometrioma1CTD_human
TgeneC0279626Squamous cell carcinoma of esophagus1CGI;CTD_human
TgeneC0345905Intrahepatic Cholangiocarcinoma1CTD_human
TgeneC0345967Malignant mesothelioma1CTD_human
TgeneC0346647Malignant neoplasm of pancreas1CTD_human
TgeneC0376634Craniofacial Abnormalities1CTD_human
TgeneC0740277Bile duct carcinoma1CTD_human
TgeneC0920563Insulin Sensitivity1CTD_human
TgeneC0971858Arthritis, Collagen-Induced1CTD_human
TgeneC0993582Arthritis, Experimental1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC1449563Cardiomyopathy, Familial Idiopathic1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC2713442Polyposis, Adenomatous Intestinal1CTD_human
TgeneC2713443Familial Intestinal Polyposis1CTD_human
TgeneC3805278Extrahepatic Cholangiocarcinoma1CTD_human
TgeneC4751120Neonatal inflammatory skin and bowel disease1ORPHANET