FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:BAX-HMGA1 (FusionGDB2 ID:9001)

Fusion Gene Summary for BAX-HMGA1

check button Fusion gene summary
Fusion gene informationFusion gene name: BAX-HMGA1
Fusion gene ID: 9001
HgeneTgene
Gene symbol

BAX

HMGA1

Gene ID

581

3159

Gene nameBCL2 associated X, apoptosis regulatorhigh mobility group AT-hook 1
SynonymsBCL2L4HMG-R|HMGA1A|HMGIY
Cytomap

19q13.33

6p21.31

Type of geneprotein-codingprotein-coding
Descriptionapoptosis regulator BAXBCL2 associated X proteinBCL2-associated X protein omegaBaxdelta2G9Baxdelta2G9omegaBaxdelta2omegabcl-2-like protein 4bcl2-L-4high mobility group protein HMG-I/HMG-Yhigh mobility group protein A1high mobility group protein Rhigh-mobility group (nonhistone chromosomal) protein isoforms I and Ynonhistone chromosomal high-mobility group protein HMG-I/HMG-Y
Modification date2020032220200315
UniProtAcc

TMBIM6

P17096

Ensembl transtripts involved in fusion geneENST00000391871, ENST00000293288, 
ENST00000345358, ENST00000354470, 
ENST00000415969, ENST00000539787, 
ENST00000311487, ENST00000347617, 
ENST00000374116, ENST00000395004, 
ENST00000401473, ENST00000447654, 
ENST00000478214, 
Fusion gene scores* DoF score6 X 5 X 5=1506 X 5 X 3=90
# samples 76
** MAII scorelog2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BAX [Title/Abstract] AND HMGA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBAX(49459467)-HMGA1(34212770), # 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
HgeneBAX

GO:0001783

B cell apoptotic process

15214043|16424160

HgeneBAX

GO:0001836

release of cytochrome c from mitochondria

9843949|16199525|17052454

HgeneBAX

GO:0006915

apoptotic process

9660918

HgeneBAX

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

11912183

HgeneBAX

GO:0008053

mitochondrial fusion

14769861

HgeneBAX

GO:0008635

activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c

15214043

HgeneBAX

GO:0008637

apoptotic mitochondrial changes

9843949

HgeneBAX

GO:0009636

response to toxic substance

16307838

HgeneBAX

GO:0010248

establishment or maintenance of transmembrane electrochemical gradient

9843949

HgeneBAX

GO:0010917

negative regulation of mitochondrial membrane potential

16751333

HgeneBAX

GO:0031334

positive regulation of protein complex assembly

9111042|19805544

HgeneBAX

GO:0032091

negative regulation of protein binding

9388232

HgeneBAX

GO:0032976

release of matrix enzymes from mitochondria

9843949

HgeneBAX

GO:0043065

positive regulation of apoptotic process

16751333|17464193

HgeneBAX

GO:0043525

positive regulation of neuron apoptotic process

15637643

HgeneBAX

GO:0043653

mitochondrial fragmentation involved in apoptotic process

12499352

HgeneBAX

GO:0051881

regulation of mitochondrial membrane potential

9843949

HgeneBAX

GO:0090200

positive regulation of release of cytochrome c from mitochondria

14963330

HgeneBAX

GO:0097190

apoptotic signaling pathway

16424160

HgeneBAX

GO:0097191

extrinsic apoptotic signaling pathway

15214043

HgeneBAX

GO:0097193

intrinsic apoptotic signaling pathway

9219694|16462759

HgeneBAX

GO:1990117

B cell receptor apoptotic signaling pathway

15214043

TgeneHMGA1

GO:0035986

senescence-associated heterochromatin focus assembly

16901784

TgeneHMGA1

GO:0090402

oncogene-induced cell senescence

16901784


check buttonFusion gene breakpoints across BAX (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across HMGA1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChiTaRS5.0N/ABG748407BAXchr19

49459467

+HMGA1chr6

34212770

+


Top

Fusion Gene ORF analysis for BAX-HMGA1

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
3UTR-3UTRENST00000391871ENST00000311487BAXchr19

49459467

+HMGA1chr6

34212770

+
3UTR-3UTRENST00000391871ENST00000347617BAXchr19

49459467

+HMGA1chr6

34212770

+
3UTR-3UTRENST00000391871ENST00000374116BAXchr19

49459467

+HMGA1chr6

34212770

+
3UTR-3UTRENST00000391871ENST00000395004BAXchr19

49459467

+HMGA1chr6

34212770

+
3UTR-3UTRENST00000391871ENST00000401473BAXchr19

49459467

+HMGA1chr6

34212770

+
3UTR-3UTRENST00000391871ENST00000447654BAXchr19

49459467

+HMGA1chr6

34212770

+
3UTR-3UTRENST00000391871ENST00000478214BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000293288ENST00000311487BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000293288ENST00000347617BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000293288ENST00000374116BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000293288ENST00000395004BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000293288ENST00000401473BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000293288ENST00000447654BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000293288ENST00000478214BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000345358ENST00000311487BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000345358ENST00000347617BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000345358ENST00000374116BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000345358ENST00000395004BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000345358ENST00000401473BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000345358ENST00000447654BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000345358ENST00000478214BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000354470ENST00000311487BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000354470ENST00000347617BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000354470ENST00000374116BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000354470ENST00000395004BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000354470ENST00000401473BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000354470ENST00000447654BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000354470ENST00000478214BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000415969ENST00000311487BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000415969ENST00000347617BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000415969ENST00000374116BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000415969ENST00000395004BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000415969ENST00000401473BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000415969ENST00000447654BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000415969ENST00000478214BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000539787ENST00000311487BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000539787ENST00000347617BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000539787ENST00000374116BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000539787ENST00000395004BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000539787ENST00000401473BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000539787ENST00000447654BAXchr19

49459467

+HMGA1chr6

34212770

+
5CDS-3UTRENST00000539787ENST00000478214BAXchr19

49459467

+HMGA1chr6

34212770

+

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

Top

Fusion Genomic Features for BAX-HMGA1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

Fusion Protein Features for BAX-HMGA1


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/:49459467/:34212770)
- 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
BAX

TMBIM6

HMGA1

P17096

237FUNCTION: HMG-I/Y bind preferentially to the minor groove of A+T rich regions in double-stranded DNA. It is suggested that these proteins could function in nucleosome phasing and in the 3'-end processing of mRNA transcripts. They are also involved in the transcription regulation of genes containing, or in close proximity to A+T-rich regions.

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


Top

Fusion Gene Sequence for BAX-HMGA1


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.

Top

Fusion Gene PPI Analysis for BAX-HMGA1


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


Top

Related Drugs for BAX-HMGA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for BAX-HMGA1


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