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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: 11706

FusionGeneSummary for EP400_WHAMM

check button Fusion gene summary
Fusion gene informationFusion gene name: EP400_WHAMM
Fusion gene ID: 11706
HgeneTgene
Gene symbol

EP400

WHAMM

Gene ID

57634

123720

Gene nameE1A binding protein p400WAS protein homolog associated with actin, golgi membranes and microtubules
SynonymsCAGH32|P400|TNRC12WHAMM1|WHDC1
Cytomap

12q24.33

15q25.2

Type of geneprotein-codingprotein-coding
DescriptionE1A-binding protein p400CAG repeat protein 32domino homologhDominop400 SWI2/SNF2-related proteinp400 kDa SWI2/SNF2-related proteintrinucleotide repeat containing 12trinucleotide repeat-containing gene 12 proteinWASP homolog-associated protein with actin, membranes and microtubulesWAS protein homology region 2 domain-containing protein 1WH2 domain-containing protein 1
Modification date2018051920180523
UniProtAcc

Q96L91

Q8TF30

Ensembl transtripts involved in fusion geneENST00000330386, ENST00000389561, 
ENST00000333577, ENST00000332482, 
ENST00000389562, 
ENST00000286760, 
Fusion gene scores* DoF score9 X 7 X 8=5042 X 2 X 2=8
# samples 92
** MAII scorelog2(9/504*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: EP400 [Title/Abstract] AND WHAMM [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
HgeneEP400

GO:0043967

histone H4 acetylation

14966270

HgeneEP400

GO:0043968

histone H2A acetylation

14966270

TgeneWHAMM

GO:0006888

ER to Golgi vesicle-mediated transport

18614018

TgeneWHAMM

GO:0007015

actin filament organization

18614018

TgeneWHAMM

GO:0051127

positive regulation of actin nucleation

18614018

TgeneWHAMM

GO:0097320

plasma membrane tubulation

18614018


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
TCGALDPRADTCGA-V1-A9ZR-01AEP400chr12

132479501

+WHAMMchr15

83488075

+
* 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
Frame-shiftENST00000330386ENST00000286760EP400chr12

132479501

+WHAMMchr15

83488075

+
Frame-shiftENST00000389561ENST00000286760EP400chr12

132479501

+WHAMMchr15

83488075

+
Frame-shiftENST00000333577ENST00000286760EP400chr12

132479501

+WHAMMchr15

83488075

+
Frame-shiftENST00000332482ENST00000286760EP400chr12

132479501

+WHAMMchr15

83488075

+
Frame-shiftENST00000389562ENST00000286760EP400chr12

132479501

+WHAMMchr15

83488075

+

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FusionProtFeatures for EP400_WHAMM


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EP400

Q96L91

WHAMM

Q8TF30

Component of the NuA4 histone acetyltransferase complexwhich is involved in transcriptional activation of select genesprincipally by acetylation of nucleosomal histones H4 and H2A.This modification may both alter nucleosome - DNA interactions andpromote interaction of the modified histones with other proteinswhich positively regulate transcription. May be required fortranscriptional activation of E2F1 and MYC target genes duringcellular proliferation. The NuA4 complex ATPase and helicaseactivities seem to be, at least in part, contributed by theassociation of RUVBL1 and RUVBL2 with EP400. May regulate ZNF42transcription activity. Component of a SWR1-like complex thatspecifically mediates the removal of histone H2A.Z/H2AFZ from thenucleosome. {ECO:0000269|PubMed:14966270,ECO:0000269|PubMed:24463511}. Acts as a nucleation-promoting factor (NPF) thatstimulates Arp2/3-mediated actin polymerization both at the Golgiapparatus and along tubular membranes. Its activity in membranetubulation requires F-actin and interaction with microtubules.Proposed to use coordinated actin-nucleating and microtubule-binding activities of distinct WHAMM molecules to drive membranetubule elongation; when MT-bound can recruit and remodel membranevesicles but is prevented to activate the Arp2/3 complex. Involvedas a regulator of Golgi positioning and morphology. Participatesin vesicle transport between the reticulum endoplasmic and theGolgi complex. Required for RhoD-dependent actin reorganizationsuch as in cell adhesion and cell migration.{ECO:0000269|PubMed:18614018, ECO:0000269|PubMed:23027905,ECO:0000269|PubMed:23087206}.

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 EP400_WHAMM


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 EP400_WHAMM


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
EP400TRRAP, MYC, MAX, RUVBL2, RUVBL1, ACTL6A, KAT5, ZMYND11, CTNNB1, MORF4L1, MORF4L2, DMAP1, TBC1D4, H2AFZ, CD2BP2, ESR1, TP53, SOX2, DYRK1B, HECW2, ALAS1, OBSL1, CCDC8, EED, PLAC1, FOXR1, FOXR2, HIST1H2BA, YEATS4, HDAC1, SMARCA4, HDAC2, MED23, ING3, FBXW7, CIITA, NANOG, POU5F1, EPC1, MBTD1, MYCL, MEAF6, MRGBP, STAT2, SSX3WHAMMRAB39B


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 EP400_WHAMM


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EP400_WHAMM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource