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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:BAX-HMGA1 (FusionGDB2 ID:HG581TG3159) |
Fusion Gene Summary for BAX-HMGA1 |
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Fusion gene information | Fusion gene name: BAX-HMGA1 | Fusion gene ID: hg581tg3159 | Hgene | Tgene | Gene symbol | BAX | HMGA1 | Gene ID | 581 | 3159 |
Gene name | BCL2 associated X, apoptosis regulator | high mobility group AT-hook 1 | |
Synonyms | BCL2L4 | HMG-R|HMGA1A|HMGIY | |
Cytomap | ('BAX')('HMGA1') 19q13.33 | 6p21.31 | |
Type of gene | protein-coding | protein-coding | |
Description | apoptosis regulator BAXBCL2 associated X proteinBCL2-associated X protein omegaBaxdelta2G9Baxdelta2G9omegaBaxdelta2omegabcl-2-like protein 4bcl2-L-4 | high 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 date | 20200322 | 20200315 | |
UniProtAcc | . | P17096 | |
Ensembl transtripts involved in fusion gene | ENST00000391871, ENST00000293288, ENST00000345358, ENST00000354470, ENST00000415969, ENST00000539787, | ||
Fusion gene scores | * DoF score | 6 X 5 X 5=150 | 6 X 5 X 3=90 |
# samples | 7 | 6 | |
** MAII score | log2(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 breakpoint | BAX(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | BAX | GO:0001783 | B cell apoptotic process | 15214043|16424160 |
Hgene | BAX | GO:0001836 | release of cytochrome c from mitochondria | 9843949|16199525|17052454 |
Hgene | BAX | GO:0006915 | apoptotic process | 9660918 |
Hgene | BAX | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 11912183 |
Hgene | BAX | GO:0008053 | mitochondrial fusion | 14769861 |
Hgene | BAX | GO:0008635 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c | 15214043 |
Hgene | BAX | GO:0008637 | apoptotic mitochondrial changes | 9843949 |
Hgene | BAX | GO:0009636 | response to toxic substance | 16307838 |
Hgene | BAX | GO:0010248 | establishment or maintenance of transmembrane electrochemical gradient | 9843949 |
Hgene | BAX | GO:0010917 | negative regulation of mitochondrial membrane potential | 16751333 |
Hgene | BAX | GO:0031334 | positive regulation of protein complex assembly | 9111042|19805544 |
Hgene | BAX | GO:0032091 | negative regulation of protein binding | 9388232 |
Hgene | BAX | GO:0032976 | release of matrix enzymes from mitochondria | 9843949 |
Hgene | BAX | GO:0043065 | positive regulation of apoptotic process | 16751333|17464193 |
Hgene | BAX | GO:0043525 | positive regulation of neuron apoptotic process | 15637643 |
Hgene | BAX | GO:0043653 | mitochondrial fragmentation involved in apoptotic process | 12499352 |
Hgene | BAX | GO:0051881 | regulation of mitochondrial membrane potential | 9843949 |
Hgene | BAX | GO:0090200 | positive regulation of release of cytochrome c from mitochondria | 14963330 |
Hgene | BAX | GO:0097190 | apoptotic signaling pathway | 16424160 |
Hgene | BAX | GO:0097191 | extrinsic apoptotic signaling pathway | 15214043 |
Hgene | BAX | GO:0097193 | intrinsic apoptotic signaling pathway | 9219694|16462759 |
Hgene | BAX | GO:1990117 | B cell receptor apoptotic signaling pathway | 15214043 |
Tgene | HMGA1 | GO:0035986 | senescence-associated heterochromatin focus assembly | 16901784 |
Tgene | HMGA1 | GO:0090402 | oncogene-induced cell senescence | 16901784 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for BAX-HMGA1 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for BAX-HMGA1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for BAX-HMGA1 |
![]() 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. |
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Hgene | Tgene |
. | HMGA1 |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: 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. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for BAX-HMGA1 |
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Fusion Gene PPI Analysis for BAX-HMGA1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for BAX-HMGA1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for BAX-HMGA1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BAX | C0027051 | Myocardial Infarction | 2 | CTD_human |
Hgene | BAX | C0002152 | Alloxan Diabetes | 1 | CTD_human |
Hgene | BAX | C0002395 | Alzheimer's Disease | 1 | CTD_human |
Hgene | BAX | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
Hgene | BAX | C0007102 | Malignant tumor of colon | 1 | CTD_human |
Hgene | BAX | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Hgene | BAX | C0011265 | Presenile dementia | 1 | CTD_human |
Hgene | BAX | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Hgene | BAX | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
Hgene | BAX | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | BAX | C0019693 | HIV Infections | 1 | CTD_human |
Hgene | BAX | C0021364 | Male infertility | 1 | CTD_human |
Hgene | BAX | C0021841 | Intestinal Neoplasms | 1 | CTD_human |
Hgene | BAX | C0022116 | Ischemia | 1 | CTD_human |
Hgene | BAX | C0022660 | Kidney Failure, Acute | 1 | CTD_human |
Hgene | BAX | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
Hgene | BAX | C0027746 | Nerve Degeneration | 1 | CTD_human |
Hgene | BAX | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Hgene | BAX | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | BAX | C0038433 | Streptozotocin Diabetes | 1 | CTD_human |
Hgene | BAX | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
Hgene | BAX | C0276496 | Familial Alzheimer Disease (FAD) | 1 | CTD_human |
Hgene | BAX | C0346627 | Intestinal Cancer | 1 | CTD_human |
Hgene | BAX | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | BAX | C0376407 | Granulomatous Slack Skin | 1 | CTD_human |
Hgene | BAX | C0494463 | Alzheimer Disease, Late Onset | 1 | CTD_human |
Hgene | BAX | C0546126 | Acute Confusional Senile Dementia | 1 | CTD_human |
Hgene | BAX | C0546837 | Malignant neoplasm of esophagus | 1 | CTD_human |
Hgene | BAX | C0678222 | Breast Carcinoma | 1 | CTD_human |
Hgene | BAX | C0750900 | Alzheimer's Disease, Focal Onset | 1 | CTD_human |
Hgene | BAX | C0750901 | Alzheimer Disease, Early Onset | 1 | CTD_human |
Hgene | BAX | C0848676 | Subfertility, Male | 1 | CTD_human |
Hgene | BAX | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | BAX | C0917731 | Male sterility | 1 | CTD_human |
Hgene | BAX | C0920269 | Microsatellite Instability | 1 | CTD_human |
Hgene | BAX | C1136382 | Sclerocystic Ovaries | 1 | CTD_human |
Hgene | BAX | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | BAX | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | BAX | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | BAX | C1565662 | Acute Kidney Insufficiency | 1 | CTD_human |
Hgene | BAX | C1721098 | Replication Error Phenotype | 1 | CTD_human |
Hgene | BAX | C2609414 | Acute kidney injury | 1 | CTD_human |
Hgene | BAX | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
Hgene | BAX | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | BAX | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | BAX | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Hgene | BAX | C4505456 | HIV Coinfection | 1 | CTD_human |
Hgene | BAX | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
Tgene | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human | |
Tgene | C0020456 | Hyperglycemia | 1 | CTD_human | |
Tgene | C0021655 | Insulin Resistance | 1 | CTD_human | |
Tgene | C0023269 | leiomyosarcoma | 1 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 1 | PSYGENET | |
Tgene | C0042138 | Uterine Neoplasms | 1 | CTD_human | |
Tgene | C0153567 | Uterine Cancer | 1 | CTD_human | |
Tgene | C0205815 | Leiomyosarcoma, Epithelioid | 1 | CTD_human | |
Tgene | C0205816 | Leiomyosarcoma, Myxoid | 1 | CTD_human | |
Tgene | C0524620 | Metabolic Syndrome X | 1 | CTD_human | |
Tgene | C0920563 | Insulin Sensitivity | 1 | CTD_human | |
Tgene | C1855520 | Hyperglycemia, Postprandial | 1 | CTD_human |