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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3357

FusionGeneSummary for ATP2B4_ERBB4

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP2B4_ERBB4
Fusion gene ID: 3357
HgeneTgene
Gene symbol

ATP2B4

ERBB4

Gene ID

493

2066

Gene nameATPase plasma membrane Ca2+ transporting 4erb-b2 receptor tyrosine kinase 4
SynonymsATP2B2|MXRA1|PMCA4|PMCA4b|PMCA4xALS19|HER4|p180erbB4
Cytomap

1q32.1

2q34

Type of geneprotein-codingprotein-coding
Descriptionplasma membrane calcium-transporting ATPase 4ATPase, Ca++ transporting, plasma membrane 4matrix-remodeling-associated protein 1sarcolemmal calcium pumpreceptor tyrosine-protein kinase erbB-4ERBB4 transcript variant I12DELERBB4 transcript variant I20DELavian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4human epidermal growth factor receptor 4proto-oncogene-like protein c-ErbB-4tyrosin
Modification date2018052320180523
UniProtAcc

P23634

Q15303

Ensembl transtripts involved in fusion geneENST00000357681, ENST00000391954, 
ENST00000367218, ENST00000367219, 
ENST00000341360, ENST00000466407, 
ENST00000436443, ENST00000342788, 
ENST00000402597, ENST00000484474, 
Fusion gene scores* DoF score8 X 4 X 6=1927 X 6 X 6=252
# samples 87
** MAII scorelog2(8/192*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/252*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP2B4 [Title/Abstract] AND ERBB4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneATP2B4

GO:0006874

cellular calcium ion homeostasis

19278978

HgeneATP2B4

GO:0010751

negative regulation of nitric oxide mediated signal transduction

19278978

HgeneATP2B4

GO:0033138

positive regulation of peptidyl-serine phosphorylation

19278978

HgeneATP2B4

GO:0045019

negative regulation of nitric oxide biosynthetic process

11591728|19278978

HgeneATP2B4

GO:0051001

negative regulation of nitric-oxide synthase activity

11591728|17242280|19278978|19287093

HgeneATP2B4

GO:0070885

negative regulation of calcineurin-NFAT signaling cascade

19287093

HgeneATP2B4

GO:0071872

cellular response to epinephrine stimulus

19278978

HgeneATP2B4

GO:0098736

negative regulation of the force of heart contraction

17242280

HgeneATP2B4

GO:0140199

negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process

17242280

HgeneATP2B4

GO:1900082

negative regulation of arginine catabolic process

19278978

HgeneATP2B4

GO:1903249

negative regulation of citrulline biosynthetic process

19278978

HgeneATP2B4

GO:2000481

positive regulation of cAMP-dependent protein kinase activity

19278978

TgeneERBB4

GO:0007165

signal transduction

10572067

TgeneERBB4

GO:0007169

transmembrane receptor protein tyrosine kinase signaling pathway

10353604|18334220

TgeneERBB4

GO:0016477

cell migration

9135143

TgeneERBB4

GO:0018108

peptidyl-tyrosine phosphorylation

18334220

TgeneERBB4

GO:0046777

protein autophosphorylation

18334220


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-05-4398-01AATP2B4chr1

203596347

+ERBB4chr2

212989628

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5UTR-3CDSENST00000357681ENST00000436443ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-3CDSENST00000357681ENST00000342788ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-3CDSENST00000357681ENST00000402597ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-intronENST00000357681ENST00000484474ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-3CDSENST00000391954ENST00000436443ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-3CDSENST00000391954ENST00000342788ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-3CDSENST00000391954ENST00000402597ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-intronENST00000391954ENST00000484474ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-3CDSENST00000367218ENST00000436443ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-3CDSENST00000367218ENST00000342788ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-3CDSENST00000367218ENST00000402597ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-intronENST00000367218ENST00000484474ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-3CDSENST00000367219ENST00000436443ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-3CDSENST00000367219ENST00000342788ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-3CDSENST00000367219ENST00000402597ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
5UTR-intronENST00000367219ENST00000484474ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
intron-3CDSENST00000341360ENST00000436443ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
intron-3CDSENST00000341360ENST00000342788ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
intron-3CDSENST00000341360ENST00000402597ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
intron-intronENST00000341360ENST00000484474ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
intron-3CDSENST00000466407ENST00000436443ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
intron-3CDSENST00000466407ENST00000342788ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
intron-3CDSENST00000466407ENST00000402597ATP2B4chr1

203596347

+ERBB4chr2

212989628

-
intron-intronENST00000466407ENST00000484474ATP2B4chr1

203596347

+ERBB4chr2

212989628

-

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FusionProtFeatures for ATP2B4_ERBB4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP2B4

P23634

ERBB4

Q15303

Calcium/calmodulin-regulated and magnesium-dependentenzyme that catalyzes the hydrolysis of ATP coupled with thetransport of calcium out of the cell (PubMed:8530416). Byregulating sperm cell calcium homeostasis, may play a role insperm motility (By similarity). {ECO:0000250|UniProtKB:Q6Q477,ECO:0000269|PubMed:8530416}. Tyrosine-protein kinase that plays an essential role ascell surface receptor for neuregulins and EGF family members andregulates development of the heart, the central nervous system andthe mammary gland, gene transcription, cell proliferation,differentiation, migration and apoptosis. Required for normalcardiac muscle differentiation during embryonic development, andfor postnatal cardiomyocyte proliferation. Required for normaldevelopment of the embryonic central nervous system, especiallyfor normal neural crest cell migration and normal axon guidance.Required for mammary gland differentiation, induction of milkproteins and lactation. Acts as cell-surface receptor for theneuregulins NRG1, NRG2, NRG3 and NRG4 and the EGF family membersBTC, EREG and HBEGF. Ligand binding triggers receptor dimerizationand autophosphorylation at specific tyrosine residues that thenserve as binding sites for scaffold proteins and effectors. Ligandspecificity and signaling is modulated by alternative splicing,proteolytic processing, and by the formation of heterodimers withother ERBB family members, thereby creating multiple combinationsof intracellular phosphotyrosines that trigger ligand- andcontext-specific cellular responses. Mediates phosphorylation ofSHC1 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 andAKT1 and protect cells against apoptosis. Isoform JM-A CYT-1 andisoform JM-B CYT-1 mediate reorganization of the actincytoskeleton and promote cell migration in response to NRG1.Isoform JM-A CYT-2 and isoform JM-B CYT-2 lack the phosphotyrosinethat mediates interaction with PIK3R1, and hence do notphosphorylate PIK3R1, do not protect cells against apoptosis, anddo not promote reorganization of the actin cytoskeleton and cellmigration. Proteolytic processing of isoform JM-A CYT-1 andisoform JM-A CYT-2 gives rise to the corresponding solubleintracellular domains (4ICD) that translocate to the nucleus,promote nuclear import of STAT5A, activation of STAT5A, mammaryepithelium differentiation, cell proliferation and activation ofgene expression. The ERBB4 soluble intracellular domains (4ICD)colocalize with STAT5A at the CSN2 promoter to regulatetranscription of milk proteins during lactation. The ERBB4 solubleintracellular domains can also translocate to mitochondria andpromote 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}.

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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FusionGeneSequence for ATP2B4_ERBB4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ATP2B4_ERBB4


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
ATP2B4DLG1, CASK, DLG2, DLG3, ERBB2IP, ADRB2, CDK7, LGALS3, BSG, LGALS8, TAS2R7, EDA2R, HSD17B6, LGALS9, AGTR1, LGALS9C, SLC39A4, LYPD3, DLK1, WBP1, PTGER3, TMEM52B, ATP1A1, ATP9A, HM13, ATP5J, CANX, CLGN, TMEM17, EGFR, CDH1, CTDSPL, ATP2B2, TMEM5, LPAR1, LILRB4, FPR2, IPPK, FAM174A, C3AR1, GPC1, CYP2B6, PCDHGB1, APLNR, KCNA5, NMUR2, HTR3A, VAC14, TRIM25ERBB4DLG3, SNTB2, DLG4, YAP1, DLG2, STAT5A, SHC1, CRK, GRB2, PTPN11, PIK3R2, NCK1, RNF41, ERBB2, CD44, DLG1, MUC1, EREG, NRG1, NRG2, ITCH, HDAC6, LRIG1, WWP1, NEDD4, TAB2, NCOR1, PIAS3, PIAS4, WWOX, TRIM28, MDM2, TP53, BYSL, TRO, EGFR, USP8, HSP90AA1, ABL1, RASA1, ABL2, SYK, ANKS1B, ANKS1A, NUDCD1, CBL, ERBB4, TFAP2A, TFAP2C, PTPN6, PTPN7, PTPN12, PTPRR, PTPRH, PTPRT, PPM1A, PPM1B, PPM1F, ILKAP, TAB1, PTPN20B, DUSP6, DUSP10, DUSP16, DUSP14, DUSP18, DUSP19, DUSP21, STYX, PTPDC1, MTMR2, MTMR6, MTMR9, CDC25C, ESR1, VANGL1


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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RelatedDrugs for ATP2B4_ERBB4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneERBB4Q15303DB08916AfatinibReceptor tyrosine-protein kinase erbB-4small moleculeapproved

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RelatedDiseases for ATP2B4_ERBB4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneERBB4C0005586Bipolar Disorder5PSYGENET
TgeneERBB4C0036341Schizophrenia4PSYGENET
TgeneERBB4C0016978gallbladder neoplasm1CTD_human
TgeneERBB4C0025202melanoma1CTD_human
TgeneERBB4C0037286Skin Neoplasms1CTD_human
TgeneERBB4C3715155AMYOTROPHIC LATERAL SCLEROSIS 191UNIPROT