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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:EHD1-BATF2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EHD1-BATF2
FusionPDB ID: 25548
FusionGDB2.0 ID: 25548
HgeneTgene
Gene symbol

EHD1

BATF2

Gene ID

10938

116071

Gene nameEH domain containing 1basic leucine zipper ATF-like transcription factor 2
SynonymsH-PAST|HPAST1|PAST|PAST1SARI
Cytomap

11q13.1

11q13.1

Type of geneprotein-codingprotein-coding
DescriptionEH domain-containing protein 1PAST homolog 1testilinbasic leucine zipper transcriptional factor ATF-like 2B-ATF-2basic leucine zipper transcription factor, ATF-like 2suppressor of AP-1 regulated by IFN
Modification date2020032920200313
UniProtAcc

Q9H4M9

Q8N1L9

Ensembl transtripts involved in fusion geneENST idsENST00000320631, ENST00000359393, 
ENST00000488711, 
ENST00000435842, 
ENST00000527716, ENST00000301887, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 7 X 6=2523 X 2 X 4=24
# samples 84
** MAII scorelog2(8/252*10)=-1.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/24*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 BATF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EHD1(64641893)-BATF2(64757284), # samples:3
EHD1(64641893)-BATF2(64762021), # samples:3
Anticipated loss of major functional domain due to fusion event.EHD1-BATF2 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-BATF2 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-BATF2 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-BATF2 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-BATF2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
EHD1-BATF2 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
EHD1-BATF2 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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)

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

check buttonFusion 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.
all structure

check buttonFusion gene breakpoints across BATF2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4LUADTCGA-44-6778-01AEHD1chr11

64641893

-BATF2chr11

64757284

-
ChimerDB4PRADTCGA-YL-A9WK-01AEHD1chr11

64641893

-BATF2chr11

64762021

-
ChimerDB4PRADTCGA-YL-A9WKEHD1chr11

64641893

-BATF2chr11

64762021

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000359393EHD1chr1164641893-ENST00000301887BATF2chr1164757284-27839137241596290
ENST00000359393EHD1chr1164641893-ENST00000301887BATF2chr1164762021-28859137241698324

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
ENST00000359393ENST00000301887EHD1chr1164641893-BATF2chr1164757284-0.327840360.6721596
ENST00000359393ENST00000301887EHD1chr1164641893-BATF2chr1164762021-0.0215525810.9784474

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Fusion Amino Acid Sequences


check button 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

>25548_25548_1_EHD1-BATF2_EHD1_chr11_64641893_ENST00000359393_BATF2_chr11_64757284_ENST00000301887_length(amino acids)=290AA_BP=56
MRAWCRATRSWWTRGAPSASSTRLATLSSTGSCVPSCPTPSWTASASSTPPGSCLERSSGSAEQHESLEKDNLALRKEIQSLQAELAWWS
RTLHVHERLCPMDCASCSAPGLLGCWDQAEGLLGPGPQGQHGCREQLELFQTPGSCYPAQPLSPGPQPHDSPSLLQCPLPSLSLGPAVVA
EPPVQLSPSPLLFASHTGSSLQGSSSKLSALQPSLTAQTAPPQPLELEHPTRGKLGSSPDNPSSALGLARLQSREHKPALSAATWQGLVV

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

>25548_25548_2_EHD1-BATF2_EHD1_chr11_64641893_ENST00000359393_BATF2_chr11_64762021_ENST00000301887_length(amino acids)=324AA_BP=63
MRAWCRATRSWWTRGAPSASSTRLATLSSTGSCVPSCPTPSWTASASSTPPGSCLERSSGSAEDPKEQQRQLKKQKNRAAAQRSRQKHTD
KADALHQQHESLEKDNLALRKEIQSLQAELAWWSRTLHVHERLCPMDCASCSAPGLLGCWDQAEGLLGPGPQGQHGCREQLELFQTPGSC
YPAQPLSPGPQPHDSPSLLQCPLPSLSLGPAVVAEPPVQLSPSPLLFASHTGSSLQGSSSKLSALQPSLTAQTAPPQPLELEHPTRGKLG

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Fusion Protein Functional Features


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/chr11:64641893/chr11:64757284)
- 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
EHD1

Q9H4M9

BATF2

Q8N1L9

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: AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system. Following infection, participates in the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3' and regulates expression of target genes (By similarity). Selectively suppresses CCN1 transcription and hence blocks the downstream cell proliferation signals produced by CCN1 and inhibits CCN1-induced anchorage-independent growth and invasion in several cancer types, such as breast cancer, malignant glioma and metastatic melanoma. Possibly acts by interfering with AP-1 binding to CCN1 promoter. {ECO:0000250, ECO:0000269|PubMed:20531301}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEHD1chr11:64641893chr11:64757284ENST00000320631-25153_156167.33333333333334535.0RegionG3 motif
HgeneEHD1chr11:64641893chr11:64757284ENST00000320631-2565_72167.33333333333334535.0RegionG1 motif
HgeneEHD1chr11:64641893chr11:64757284ENST00000320631-2591_92167.33333333333334535.0RegionG2 motif
HgeneEHD1chr11:64641893chr11:64757284ENST00000359393-47153_156167.33333333333334535.0RegionG3 motif
HgeneEHD1chr11:64641893chr11:64757284ENST00000359393-4765_72167.33333333333334535.0RegionG1 motif
HgeneEHD1chr11:64641893chr11:64757284ENST00000359393-4791_92167.33333333333334535.0RegionG2 motif
HgeneEHD1chr11:64641893chr11:64762021ENST00000320631-25153_156167.33333333333334535.0RegionG3 motif
HgeneEHD1chr11:64641893chr11:64762021ENST00000320631-2565_72167.33333333333334535.0RegionG1 motif
HgeneEHD1chr11:64641893chr11:64762021ENST00000320631-2591_92167.33333333333334535.0RegionG2 motif
HgeneEHD1chr11:64641893chr11:64762021ENST00000359393-47153_156167.33333333333334535.0RegionG3 motif
HgeneEHD1chr11:64641893chr11:64762021ENST00000359393-4765_72167.33333333333334535.0RegionG1 motif
HgeneEHD1chr11:64641893chr11:64762021ENST00000359393-4791_92167.33333333333334535.0RegionG2 motif
TgeneBATF2chr11:64641893chr11:64757284ENST000004358420217_800190.0DomainbZIP
TgeneBATF2chr11:64641893chr11:64762021ENST000003018870317_8013.0275.0DomainbZIP
TgeneBATF2chr11:64641893chr11:64762021ENST000004358420217_800190.0DomainbZIP
TgeneBATF2chr11:64641893chr11:64757284ENST000003018871345_6647.0275.0RegionLeucine-zipper
TgeneBATF2chr11:64641893chr11:64757284ENST000004358420220_410190.0RegionBasic motif
TgeneBATF2chr11:64641893chr11:64757284ENST000004358420245_660190.0RegionLeucine-zipper
TgeneBATF2chr11:64641893chr11:64762021ENST000003018870320_4113.0275.0RegionBasic motif
TgeneBATF2chr11:64641893chr11:64762021ENST000003018870345_6613.0275.0RegionLeucine-zipper
TgeneBATF2chr11:64641893chr11:64762021ENST000004358420220_410190.0RegionBasic motif
TgeneBATF2chr11:64641893chr11:64762021ENST000004358420245_660190.0RegionLeucine-zipper

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEHD1chr11:64641893chr11:64757284ENST00000320631-25489_500167.33333333333334535.0Calcium bindingOntology_term=ECO:0000269,ECO:0007744,ECO:0007744
HgeneEHD1chr11:64641893chr11:64757284ENST00000359393-47489_500167.33333333333334535.0Calcium bindingOntology_term=ECO:0000269,ECO:0007744,ECO:0007744
HgeneEHD1chr11:64641893chr11:64762021ENST00000320631-25489_500167.33333333333334535.0Calcium bindingOntology_term=ECO:0000269,ECO:0007744,ECO:0007744
HgeneEHD1chr11:64641893chr11:64762021ENST00000359393-47489_500167.33333333333334535.0Calcium bindingOntology_term=ECO:0000269,ECO:0007744,ECO:0007744
HgeneEHD1chr11:64641893chr11:64757284ENST00000320631-25198_227167.33333333333334535.0Coiled coilOntology_term=ECO:0000255
HgeneEHD1chr11:64641893chr11:64757284ENST00000359393-47198_227167.33333333333334535.0Coiled coilOntology_term=ECO:0000255
HgeneEHD1chr11:64641893chr11:64762021ENST00000320631-25198_227167.33333333333334535.0Coiled coilOntology_term=ECO:0000255
HgeneEHD1chr11:64641893chr11:64762021ENST00000359393-47198_227167.33333333333334535.0Coiled coilOntology_term=ECO:0000255
HgeneEHD1chr11:64641893chr11:64757284ENST00000320631-25444_532167.33333333333334535.0DomainEH
HgeneEHD1chr11:64641893chr11:64757284ENST00000320631-25476_511167.33333333333334535.0DomainEF-hand
HgeneEHD1chr11:64641893chr11:64757284ENST00000320631-2555_286167.33333333333334535.0DomainDynamin-type G
HgeneEHD1chr11:64641893chr11:64757284ENST00000359393-47444_532167.33333333333334535.0DomainEH
HgeneEHD1chr11:64641893chr11:64757284ENST00000359393-47476_511167.33333333333334535.0DomainEF-hand
HgeneEHD1chr11:64641893chr11:64757284ENST00000359393-4755_286167.33333333333334535.0DomainDynamin-type G
HgeneEHD1chr11:64641893chr11:64762021ENST00000320631-25444_532167.33333333333334535.0DomainEH
HgeneEHD1chr11:64641893chr11:64762021ENST00000320631-25476_511167.33333333333334535.0DomainEF-hand
HgeneEHD1chr11:64641893chr11:64762021ENST00000320631-2555_286167.33333333333334535.0DomainDynamin-type G
HgeneEHD1chr11:64641893chr11:64762021ENST00000359393-47444_532167.33333333333334535.0DomainEH
HgeneEHD1chr11:64641893chr11:64762021ENST00000359393-47476_511167.33333333333334535.0DomainEF-hand
HgeneEHD1chr11:64641893chr11:64762021ENST00000359393-4755_286167.33333333333334535.0DomainDynamin-type G
HgeneEHD1chr11:64641893chr11:64757284ENST00000320631-25219_222167.33333333333334535.0RegionG4 motif
HgeneEHD1chr11:64641893chr11:64757284ENST00000320631-25243_243167.33333333333334535.0RegionG5 motif
HgeneEHD1chr11:64641893chr11:64757284ENST00000359393-47219_222167.33333333333334535.0RegionG4 motif
HgeneEHD1chr11:64641893chr11:64757284ENST00000359393-47243_243167.33333333333334535.0RegionG5 motif
HgeneEHD1chr11:64641893chr11:64762021ENST00000320631-25219_222167.33333333333334535.0RegionG4 motif
HgeneEHD1chr11:64641893chr11:64762021ENST00000320631-25243_243167.33333333333334535.0RegionG5 motif
HgeneEHD1chr11:64641893chr11:64762021ENST00000359393-47219_222167.33333333333334535.0RegionG4 motif
HgeneEHD1chr11:64641893chr11:64762021ENST00000359393-47243_243167.33333333333334535.0RegionG5 motif
TgeneBATF2chr11:64641893chr11:64757284ENST000003018871317_8047.0275.0DomainbZIP
TgeneBATF2chr11:64641893chr11:64757284ENST000003018871320_4147.0275.0RegionBasic motif


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Fusion Protein Structures

check button 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)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>599_EHD1_64641893_BATF2_64762021_ranked_0.pdbEHD16464189364641893ENST00000301887BATF2chr1164762021-
MRAWCRATRSWWTRGAPSASSTRLATLSSTGSCVPSCPTPSWTASASSTPPGSCLERSSGSAEDPKEQQRQLKKQKNRAAAQRSRQKHTD
KADALHQQHESLEKDNLALRKEIQSLQAELAWWSRTLHVHERLCPMDCASCSAPGLLGCWDQAEGLLGPGPQGQHGCREQLELFQTPGSC
YPAQPLSPGPQPHDSPSLLQCPLPSLSLGPAVVAEPPVQLSPSPLLFASHTGSSLQGSSSKLSALQPSLTAQTAPPQPLELEHPTRGKLG
324


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pLDDT score distribution

check button 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
all structure
all structure
BATF2_pLDDT.png
all structure
all structure

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


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Ramachandran Plot of Fusion Protein Structure


check button 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


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
EHD1
BATF2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to EHD1-BATF2


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

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Related Diseases to EHD1-BATF2


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

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