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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:ARID4B-TOMM20

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ARID4B-TOMM20
FusionPDB ID: 6490
FusionGDB2.0 ID: 6490
HgeneTgene
Gene symbol

ARID4B

TOMM20

Gene ID

51742

9804

Gene nameAT-rich interaction domain 4Btranslocase of outer mitochondrial membrane 20
SynonymsBCAA|BRCAA1|RBBP1L1|RBP1L1|SAP180MAS20|MOM19|TOM20
Cytomap

1q42.3

1q42.3

Type of geneprotein-codingprotein-coding
DescriptionAT-rich interactive domain-containing protein 4B180 kDa Sin3-associated polypeptideARID domain-containing protein 4BAT rich interactive domain 4B (RBP1-like)Rb-binding protein homologSIN3A-associated protein 180breast cancer-associated antigen 1bremitochondrial import receptor subunit TOM20 homologmitochondrial 20 kDa outer membrane proteinouter mitochondrial membrane receptor Tom20translocase of outer mitochondrial membrane 20 homolog type II
Modification date2020032020200313
UniProtAcc

Q4LE39

.
Ensembl transtripts involved in fusion geneENST idsENST00000264183, ENST00000349213, 
ENST00000366603, ENST00000494543, 
ENST00000467767, ENST00000366607, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score23 X 20 X 9=41407 X 6 X 4=168
# samples 299
** MAII scorelog2(29/4140*10)=-3.83550596237175
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/168*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ARID4B [Title/Abstract] AND TOMM20 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ARID4B(235490229)-TOMM20(235285687), # samples:2
TOMM20(235291910)-ARID4B(235295312), # samples:1
Anticipated loss of major functional domain due to fusion event.ARID4B-TOMM20 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.
ARID4B-TOMM20 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.
ARID4B-TOMM20 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ARID4B-TOMM20 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ARID4B-TOMM20 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ARID4B-TOMM20 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
TgeneTOMM20

GO:0006626

protein targeting to mitochondrion

14557246


check buttonFusion gene breakpoints across ARID4B (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 TOMM20 (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
ChimerDB4BRCATCGA-AC-A6IW-01AARID4Bchr1

235490229

-TOMM20chr1

235285687

-
ChimerDB4STADTCGA-CG-4441-01AARID4Bchr1

235416045

-TOMM20chr1

235275423

-
ChimerDB4STADTCGA-D7-6822-01AARID4Bchr1

235490229

-TOMM20chr1

235285687

-
ChimerDB4STADTCGA-D7-6822ARID4Bchr1

235490228

-TOMM20chr1

235285687

-


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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)
ENST00000366603ARID4Bchr1235490228-ENST00000366607TOMM20chr1235285687-34283833023969
ENST00000264183ARID4Bchr1235490228-ENST00000366607TOMM20chr1235285687-354950440501153
ENST00000349213ARID4Bchr1235490228-ENST00000366607TOMM20chr1235285687-355150642503153
ENST00000366603ARID4Bchr1235490229-ENST00000366607TOMM20chr1235285687-34283833023969
ENST00000264183ARID4Bchr1235490229-ENST00000366607TOMM20chr1235285687-354950440501153
ENST00000349213ARID4Bchr1235490229-ENST00000366607TOMM20chr1235285687-355150642503153

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
ENST00000366603ENST00000366607ARID4Bchr1235490228-TOMM20chr1235285687-0.8776380.12236198
ENST00000264183ENST00000366607ARID4Bchr1235490228-TOMM20chr1235285687-0.88973710.11026291
ENST00000349213ENST00000366607ARID4Bchr1235490228-TOMM20chr1235285687-0.8903220.10967798
ENST00000366603ENST00000366607ARID4Bchr1235490229-TOMM20chr1235285687-0.8776380.12236198
ENST00000264183ENST00000366607ARID4Bchr1235490229-TOMM20chr1235285687-0.88973710.11026291
ENST00000349213ENST00000366607ARID4Bchr1235490229-TOMM20chr1235285687-0.8903220.10967798

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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

>6490_6490_1_ARID4B-TOMM20_ARID4B_chr1_235490228_ENST00000264183_TOMM20_chr1_235285687_ENST00000366607_length(amino acids)=153AA_BP=
MPVSRVRSEELGRRSGGRLLSFILPPPRPPPGPLPGGSCRGSIAAVLWRAARLGARTSSPGGIFRRPPPPNQGARAAAKQRYQSPPREEE

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

>6490_6490_2_ARID4B-TOMM20_ARID4B_chr1_235490228_ENST00000349213_TOMM20_chr1_235285687_ENST00000366607_length(amino acids)=153AA_BP=
MPVSRVRSEELGRRSGGRLLSFILPPPRPPPGPLPGGSCRGSIAAVLWRAARLGARTSSPGGIFRRPPPPNQGARAAAKQRYQSPPREEE

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

>6490_6490_3_ARID4B-TOMM20_ARID4B_chr1_235490228_ENST00000366603_TOMM20_chr1_235285687_ENST00000366607_length(amino acids)=69AA_BP=

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

>6490_6490_4_ARID4B-TOMM20_ARID4B_chr1_235490229_ENST00000264183_TOMM20_chr1_235285687_ENST00000366607_length(amino acids)=153AA_BP=
MPVSRVRSEELGRRSGGRLLSFILPPPRPPPGPLPGGSCRGSIAAVLWRAARLGARTSSPGGIFRRPPPPNQGARAAAKQRYQSPPREEE

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

>6490_6490_5_ARID4B-TOMM20_ARID4B_chr1_235490229_ENST00000349213_TOMM20_chr1_235285687_ENST00000366607_length(amino acids)=153AA_BP=
MPVSRVRSEELGRRSGGRLLSFILPPPRPPPGPLPGGSCRGSIAAVLWRAARLGARTSSPGGIFRRPPPPNQGARAAAKQRYQSPPREEE

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

>6490_6490_6_ARID4B-TOMM20_ARID4B_chr1_235490229_ENST00000366603_TOMM20_chr1_235285687_ENST00000366607_length(amino acids)=69AA_BP=

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

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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/chr1:235490229/chr1:235285687)
- 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
ARID4B

Q4LE39

.
FUNCTION: Acts as a transcriptional repressor (PubMed:12724404). May function in the assembly and/or enzymatic activity of the Sin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes (PubMed:12724404). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4A. Involved in spermatogenesis, together with ARID4A, where it functions as a transcriptional coactivator for AR (androgen receptor) and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier. Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity). {ECO:0000250|UniProtKB:A2CG63, ECO:0000269|PubMed:12724404}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneARID4Bchr1:235490228chr1:235285687ENST00000264183-2241231_12702.01313.0Coiled coilOntology_term=ECO:0000255
HgeneARID4Bchr1:235490228chr1:235285687ENST00000264183-224728_7542.01313.0Coiled coilOntology_term=ECO:0000255
HgeneARID4Bchr1:235490228chr1:235285687ENST00000349213-2231231_12702.01227.0Coiled coilOntology_term=ECO:0000255
HgeneARID4Bchr1:235490228chr1:235285687ENST00000349213-223728_7542.01227.0Coiled coilOntology_term=ECO:0000255
HgeneARID4Bchr1:235490228chr1:235285687ENST00000366603-2241231_12702.01313.0Coiled coilOntology_term=ECO:0000255
HgeneARID4Bchr1:235490228chr1:235285687ENST00000366603-224728_7542.01313.0Coiled coilOntology_term=ECO:0000255
HgeneARID4Bchr1:235490229chr1:235285687ENST00000264183-2241231_12702.01313.0Coiled coilOntology_term=ECO:0000255
HgeneARID4Bchr1:235490229chr1:235285687ENST00000264183-224728_7542.01313.0Coiled coilOntology_term=ECO:0000255
HgeneARID4Bchr1:235490229chr1:235285687ENST00000349213-2231231_12702.01227.0Coiled coilOntology_term=ECO:0000255
HgeneARID4Bchr1:235490229chr1:235285687ENST00000349213-223728_7542.01227.0Coiled coilOntology_term=ECO:0000255
HgeneARID4Bchr1:235490229chr1:235285687ENST00000366603-2241231_12702.01313.0Coiled coilOntology_term=ECO:0000255
HgeneARID4Bchr1:235490229chr1:235285687ENST00000366603-224728_7542.01313.0Coiled coilOntology_term=ECO:0000255
HgeneARID4Bchr1:235490228chr1:235285687ENST00000264183-2241095_11012.01313.0Compositional biasNote=Poly-Ser
HgeneARID4Bchr1:235490228chr1:235285687ENST00000264183-2241271_13032.01313.0Compositional biasNote=Ser-rich
HgeneARID4Bchr1:235490228chr1:235285687ENST00000264183-224154_1592.01313.0Compositional biasNote=Poly-Ser
HgeneARID4Bchr1:235490228chr1:235285687ENST00000264183-224268_5672.01313.0Compositional biasNote=Glu-rich
HgeneARID4Bchr1:235490228chr1:235285687ENST00000349213-2231095_11012.01227.0Compositional biasNote=Poly-Ser
HgeneARID4Bchr1:235490228chr1:235285687ENST00000349213-2231271_13032.01227.0Compositional biasNote=Ser-rich
HgeneARID4Bchr1:235490228chr1:235285687ENST00000349213-223154_1592.01227.0Compositional biasNote=Poly-Ser
HgeneARID4Bchr1:235490228chr1:235285687ENST00000349213-223268_5672.01227.0Compositional biasNote=Glu-rich
HgeneARID4Bchr1:235490228chr1:235285687ENST00000366603-2241095_11012.01313.0Compositional biasNote=Poly-Ser
HgeneARID4Bchr1:235490228chr1:235285687ENST00000366603-2241271_13032.01313.0Compositional biasNote=Ser-rich
HgeneARID4Bchr1:235490228chr1:235285687ENST00000366603-224154_1592.01313.0Compositional biasNote=Poly-Ser
HgeneARID4Bchr1:235490228chr1:235285687ENST00000366603-224268_5672.01313.0Compositional biasNote=Glu-rich
HgeneARID4Bchr1:235490229chr1:235285687ENST00000264183-2241095_11012.01313.0Compositional biasNote=Poly-Ser
HgeneARID4Bchr1:235490229chr1:235285687ENST00000264183-2241271_13032.01313.0Compositional biasNote=Ser-rich
HgeneARID4Bchr1:235490229chr1:235285687ENST00000264183-224154_1592.01313.0Compositional biasNote=Poly-Ser
HgeneARID4Bchr1:235490229chr1:235285687ENST00000264183-224268_5672.01313.0Compositional biasNote=Glu-rich
HgeneARID4Bchr1:235490229chr1:235285687ENST00000349213-2231095_11012.01227.0Compositional biasNote=Poly-Ser
HgeneARID4Bchr1:235490229chr1:235285687ENST00000349213-2231271_13032.01227.0Compositional biasNote=Ser-rich
HgeneARID4Bchr1:235490229chr1:235285687ENST00000349213-223154_1592.01227.0Compositional biasNote=Poly-Ser
HgeneARID4Bchr1:235490229chr1:235285687ENST00000349213-223268_5672.01227.0Compositional biasNote=Glu-rich
HgeneARID4Bchr1:235490229chr1:235285687ENST00000366603-2241095_11012.01313.0Compositional biasNote=Poly-Ser
HgeneARID4Bchr1:235490229chr1:235285687ENST00000366603-2241271_13032.01313.0Compositional biasNote=Ser-rich
HgeneARID4Bchr1:235490229chr1:235285687ENST00000366603-224154_1592.01313.0Compositional biasNote=Poly-Ser
HgeneARID4Bchr1:235490229chr1:235285687ENST00000366603-224268_5672.01313.0Compositional biasNote=Glu-rich
HgeneARID4Bchr1:235490228chr1:235285687ENST00000264183-224306_3982.01313.0DomainARID
HgeneARID4Bchr1:235490228chr1:235285687ENST00000349213-223306_3982.01227.0DomainARID
HgeneARID4Bchr1:235490228chr1:235285687ENST00000366603-224306_3982.01313.0DomainARID
HgeneARID4Bchr1:235490229chr1:235285687ENST00000264183-224306_3982.01313.0DomainARID
HgeneARID4Bchr1:235490229chr1:235285687ENST00000349213-223306_3982.01227.0DomainARID
HgeneARID4Bchr1:235490229chr1:235285687ENST00000366603-224306_3982.01313.0DomainARID
HgeneARID4Bchr1:235490228chr1:235285687ENST00000264183-2241130_11372.01313.0RegionNote=Antigenic epitope
HgeneARID4Bchr1:235490228chr1:235285687ENST00000264183-224465_4732.01313.0RegionNote=Antigenic epitope
HgeneARID4Bchr1:235490228chr1:235285687ENST00000349213-2231130_11372.01227.0RegionNote=Antigenic epitope
HgeneARID4Bchr1:235490228chr1:235285687ENST00000349213-223465_4732.01227.0RegionNote=Antigenic epitope
HgeneARID4Bchr1:235490228chr1:235285687ENST00000366603-2241130_11372.01313.0RegionNote=Antigenic epitope
HgeneARID4Bchr1:235490228chr1:235285687ENST00000366603-224465_4732.01313.0RegionNote=Antigenic epitope
HgeneARID4Bchr1:235490229chr1:235285687ENST00000264183-2241130_11372.01313.0RegionNote=Antigenic epitope
HgeneARID4Bchr1:235490229chr1:235285687ENST00000264183-224465_4732.01313.0RegionNote=Antigenic epitope
HgeneARID4Bchr1:235490229chr1:235285687ENST00000349213-2231130_11372.01227.0RegionNote=Antigenic epitope
HgeneARID4Bchr1:235490229chr1:235285687ENST00000349213-223465_4732.01227.0RegionNote=Antigenic epitope
HgeneARID4Bchr1:235490229chr1:235285687ENST00000366603-2241130_11372.01313.0RegionNote=Antigenic epitope
HgeneARID4Bchr1:235490229chr1:235285687ENST00000366603-224465_4732.01313.0RegionNote=Antigenic epitope
TgeneTOMM20chr1:235490228chr1:235285687ENST00000366607051_640.333333333333336146.0Topological domainMitochondrial intermembrane
TgeneTOMM20chr1:235490228chr1:235285687ENST000003666070525_14540.333333333333336146.0Topological domainCytoplasmic
TgeneTOMM20chr1:235490229chr1:235285687ENST00000366607051_640.333333333333336146.0Topological domainMitochondrial intermembrane
TgeneTOMM20chr1:235490229chr1:235285687ENST000003666070525_14540.333333333333336146.0Topological domainCytoplasmic
TgeneTOMM20chr1:235490228chr1:235285687ENST00000366607057_2440.333333333333336146.0TransmembraneHelical
TgeneTOMM20chr1:235490229chr1:235285687ENST00000366607057_2440.333333333333336146.0TransmembraneHelical


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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 >>>126_ARID4B_235490229_TOMM20_235285687_ranked_0.pdbARID4B235490229235490229ENST00000366607TOMM20chr1235285687-
MPVSRVRSEELGRRSGGRLLSFILPPPRPPPGPLPGGSCRGSIAAVLWRAARLGARTSSPGGIFRRPPPPNQGARAAAKQRYQSPPREEE
153


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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.
ARID4B_pLDDT.png
all structure
all structure
TOMM20_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
ARID4B
TOMM20


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 ARID4B-TOMM20


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 ARID4B-TOMM20


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