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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:ERBB4-SDCCAG8 (FusionGDB2 ID:HG2066TG10806)

Fusion Gene Summary for ERBB4-SDCCAG8

check button Fusion gene summary
Fusion gene informationFusion gene name: ERBB4-SDCCAG8
Fusion gene ID: hg2066tg10806
HgeneTgene
Gene symbol

ERBB4

SDCCAG8

Gene ID

2066

10806

Gene nameerb-b2 receptor tyrosine kinase 4SHH signaling and ciliogenesis regulator SDCCAG8
SynonymsALS19|HER4|p180erbB4BBS16|CCCAP|CCCAP SLSN7|HSPC085|NPHP10|NY-CO-8|SLSN7|hCCCAP
Cytomap('ERBB4')('SDCCAG8')

2q34

1q43-q44

Type of geneprotein-codingprotein-coding
Descriptionreceptor tyrosine-protein kinase erbB-4avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4human epidermal growth factor receptor 4proto-oncogene-like protein c-ErbB-4tyrosine kinase-type cell surface receptor HER4v-erb-a erythroblastic serologically defined colon cancer antigen 8Bardet-Biedl syndrome 16antigen NY-CO-8centrosomal colon cancer autoantigen proteinnephrocystin 10
Modification date2020032720200313
UniProtAcc

Q15303

.
Ensembl transtripts involved in fusion geneENST00000342788, ENST00000402597, 
ENST00000436443, ENST00000484474, 
Fusion gene scores* DoF score19 X 15 X 4=114022 X 19 X 10=4180
# samples 2126
** MAII scorelog2(21/1140*10)=-2.44057259138598
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(26/4180*10)=-4.00691941393979
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ERBB4 [Title/Abstract] AND SDCCAG8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointERBB4(212426628)-SDCCAG8(243433394), # 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
HgeneERBB4

GO:0007165

signal transduction

10572067

HgeneERBB4

GO:0007169

transmembrane receptor protein tyrosine kinase signaling pathway

10353604|18334220

HgeneERBB4

GO:0016477

cell migration

9135143

HgeneERBB4

GO:0018108

peptidyl-tyrosine phosphorylation

18334220

HgeneERBB4

GO:0046777

protein autophosphorylation

18334220



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
ChimerDB4UCECTCGA-DI-A2QT-01AERBB4chr2

212426628

-SDCCAG8chr1

243433394

+


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Fusion Gene ORF analysis for ERBB4-SDCCAG8

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-intronENST00000342788ENST00000343783ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000342788ENST00000355875ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000342788ENST00000366541ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000342788ENST00000391846ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000342788ENST00000496361ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000402597ENST00000343783ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000402597ENST00000355875ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000402597ENST00000366541ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000402597ENST00000391846ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000402597ENST00000496361ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000436443ENST00000343783ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000436443ENST00000355875ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000436443ENST00000366541ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000436443ENST00000391846ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
5CDS-intronENST00000436443ENST00000496361ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
intron-intronENST00000484474ENST00000343783ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
intron-intronENST00000484474ENST00000355875ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
intron-intronENST00000484474ENST00000366541ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
intron-intronENST00000484474ENST00000391846ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+
intron-intronENST00000484474ENST00000496361ERBB4chr2

212426628

-SDCCAG8chr1

243433394

+

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 ERBB4-SDCCAG8


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 ERBB4-SDCCAG8


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/:212426628/:243433394)
- 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
ERBB4

Q15303

.
FUNCTION: Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation, differentiation, migration and apoptosis. Required for normal cardiac muscle differentiation during embryonic development, and for postnatal cardiomyocyte proliferation. Required for normal development of the embryonic central nervous system, especially for normal neural crest cell migration and normal axon guidance. Required for mammary gland differentiation, induction of milk proteins and lactation. Acts as cell-surface receptor for the neuregulins NRG1, NRG2, NRG3 and NRG4 and the EGF family members BTC, EREG and HBEGF. Ligand binding triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Ligand specificity and signaling is modulated by alternative splicing, proteolytic processing, and by the formation of heterodimers with other ERBB family members, thereby creating multiple combinations of intracellular phosphotyrosines that trigger ligand- and context-specific cellular responses. Mediates phosphorylation of SHC1 and activation of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Isoform JM-A CYT-1 and isoform JM-B CYT-1 phosphorylate PIK3R1, leading to the activation of phosphatidylinositol 3-kinase and AKT1 and protect cells against apoptosis. Isoform JM-A CYT-1 and isoform JM-B CYT-1 mediate reorganization of the actin cytoskeleton and promote cell migration in response to NRG1. Isoform JM-A CYT-2 and isoform JM-B CYT-2 lack the phosphotyrosine that mediates interaction with PIK3R1, and hence do not phosphorylate PIK3R1, do not protect cells against apoptosis, and do not promote reorganization of the actin cytoskeleton and cell migration. Proteolytic processing of isoform JM-A CYT-1 and isoform JM-A CYT-2 gives rise to the corresponding soluble intracellular domains (4ICD) that translocate to the nucleus, promote nuclear import of STAT5A, activation of STAT5A, mammary epithelium differentiation, cell proliferation and activation of gene expression. The ERBB4 soluble intracellular domains (4ICD) colocalize with STAT5A at the CSN2 promoter to regulate transcription of milk proteins during lactation. The ERBB4 soluble intracellular domains can also translocate to mitochondria and promote apoptosis. {ECO:0000269|PubMed:10348342, ECO:0000269|PubMed:10353604, ECO:0000269|PubMed:10358079, ECO:0000269|PubMed:10722704, ECO:0000269|PubMed:10867024, ECO:0000269|PubMed:11178955, ECO:0000269|PubMed:11390655, ECO:0000269|PubMed:12807903, ECO:0000269|PubMed:15534001, ECO:0000269|PubMed:15746097, ECO:0000269|PubMed:16251361, ECO:0000269|PubMed:16778220, ECO:0000269|PubMed:16837552, ECO:0000269|PubMed:17486069, ECO:0000269|PubMed:17638867, ECO:0000269|PubMed:19098003, ECO:0000269|PubMed:20858735, ECO:0000269|PubMed:8383326, ECO:0000269|PubMed:8617750, ECO:0000269|PubMed:9135143, ECO:0000269|PubMed:9168115, ECO:0000269|PubMed:9334263}.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 ERBB4-SDCCAG8


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 ERBB4-SDCCAG8


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 ERBB4-SDCCAG8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneERBB4Q15303DB08916AfatinibInhibitorSmall moleculeApproved
HgeneERBB4Q15303DB08916AfatinibInhibitorSmall moleculeApproved
HgeneERBB4Q15303DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneERBB4Q15303DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneERBB4Q15303DB12267BrigatinibInhibitorSmall moleculeApproved|Investigational
HgeneERBB4Q15303DB12267BrigatinibInhibitorSmall moleculeApproved|Investigational
HgeneERBB4Q15303DB15035ZanubrutinibInhibitorSmall moleculeApproved|Investigational
HgeneERBB4Q15303DB15035ZanubrutinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for ERBB4-SDCCAG8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneERBB4C0005586Bipolar Disorder5PSYGENET
HgeneERBB4C0036341Schizophrenia4PSYGENET
HgeneERBB4C0004238Atrial Fibrillation2CTD_human
HgeneERBB4C0235480Paroxysmal atrial fibrillation2CTD_human
HgeneERBB4C2585653Persistent atrial fibrillation2CTD_human
HgeneERBB4C3468561familial atrial fibrillation2CTD_human
HgeneERBB4C0002736Amyotrophic Lateral Sclerosis1ORPHANET
HgeneERBB4C0007114Malignant neoplasm of skin1CTD_human
HgeneERBB4C0016978gallbladder neoplasm1CTD_human
HgeneERBB4C0025202melanoma1CGI;CTD_human
HgeneERBB4C0037286Skin Neoplasms1CTD_human
HgeneERBB4C0153452Malignant neoplasm of gallbladder1CTD_human
HgeneERBB4C3715155AMYOTROPHIC LATERAL SCLEROSIS 191CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC3150877SENIOR-LOKEN SYNDROME 73GENOMICS_ENGLAND
TgeneC3889474BARDET-BIEDL SYNDROME 163CTD_human;GENOMICS_ENGLAND
TgeneC0403553Renal dysplasia and retinal aplasia (disorder)2GENOMICS_ENGLAND;ORPHANET
TgeneC0752166Bardet-Biedl Syndrome2GENOMICS_ENGLAND;ORPHANET
TgeneC0022679Cystic kidney1CTD_human
TgeneC0035309Retinal Diseases1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC1691228Cystic Kidney Diseases1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND