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Fusion gene ID: 16436 |
FusionGeneSummary for HMGA2_CACNB4 |
Fusion gene summary |
Fusion gene information | Fusion gene name: HMGA2_CACNB4 | Fusion gene ID: 16436 | Hgene | Tgene | Gene symbol | HMGA2 | CACNB4 | Gene ID | 8091 | 785 |
Gene name | high mobility group AT-hook 2 | calcium voltage-gated channel auxiliary subunit beta 4 | |
Synonyms | BABL|HMGI-C|HMGIC|LIPO|STQTL9 | CAB4|CACNLB4|EA5|EIG9|EJM|EJM4|EJM6 | |
Cytomap | 12q14.3 | 2q23.3 | |
Type of gene | protein-coding | protein-coding | |
Description | high mobility group protein HMGI-CHMGA2/KRT121P fusionhigh-mobility group (nonhistone chromosomal) protein isoform I-C | voltage-dependent L-type calcium channel subunit beta-4calcium channel voltage-dependent subunit beta 4dihydropyridine-sensitive L-type, calcium channel beta-4 subunit | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P52926 | O00305 | |
Ensembl transtripts involved in fusion gene | ENST00000403681, ENST00000541363, ENST00000393577, ENST00000393578, ENST00000425208, ENST00000536545, ENST00000354636, | ENST00000539935, ENST00000360283, ENST00000534999, ENST00000397327, ENST00000427385, ENST00000201943, ENST00000475848, | |
Fusion gene scores | * DoF score | 23 X 14 X 7=2254 | 2 X 2 X 2=8 |
# samples | 30 | 2 | |
** MAII score | log2(30/2254*10)=-2.90945310967634 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: HMGA2 [Title/Abstract] AND CACNB4 [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | HMGA2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 14627817 |
Hgene | HMGA2 | GO:0002062 | chondrocyte differentiation | 21484705 |
Hgene | HMGA2 | GO:0006284 | base-excision repair | 19465398 |
Hgene | HMGA2 | GO:0007095 | mitotic G2 DNA damage checkpoint | 16061642 |
Hgene | HMGA2 | GO:0010564 | regulation of cell cycle process | 14645522 |
Hgene | HMGA2 | GO:0010628 | positive regulation of gene expression | 18832382 |
Hgene | HMGA2 | GO:0031052 | chromosome breakage | 19549901 |
Hgene | HMGA2 | GO:0031507 | heterochromatin assembly | 16901784 |
Hgene | HMGA2 | GO:0035978 | histone H2A-S139 phosphorylation | 16061642 |
Hgene | HMGA2 | GO:0035986 | senescence-associated heterochromatin focus assembly | 16901784 |
Hgene | HMGA2 | GO:0035988 | chondrocyte proliferation | 21484705 |
Hgene | HMGA2 | GO:0042769 | DNA damage response, detection of DNA damage | 19465398 |
Hgene | HMGA2 | GO:0043065 | positive regulation of apoptotic process | 16061642 |
Hgene | HMGA2 | GO:0043066 | negative regulation of apoptotic process | 19465398 |
Hgene | HMGA2 | GO:0043392 | negative regulation of DNA binding | 14645522 |
Hgene | HMGA2 | GO:0043922 | negative regulation by host of viral transcription | 17005673 |
Hgene | HMGA2 | GO:0045869 | negative regulation of single stranded viral RNA replication via double stranded DNA intermediate | 17005673 |
Hgene | HMGA2 | GO:0045892 | negative regulation of transcription, DNA-templated | 18832382 |
Hgene | HMGA2 | GO:0045893 | positive regulation of transcription, DNA-templated | 15225648|15755872|17005673|17324944|17426251 |
Hgene | HMGA2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14645522|18832382 |
Hgene | HMGA2 | GO:0071158 | positive regulation of cell cycle arrest | 16061642 |
Hgene | HMGA2 | GO:0090402 | oncogene-induced cell senescence | 16901784 |
Hgene | HMGA2 | GO:2000648 | positive regulation of stem cell proliferation | 21484705 |
Hgene | HMGA2 | GO:2000679 | positive regulation of transcription regulatory region DNA binding | 18832382 |
Hgene | HMGA2 | GO:2000685 | positive regulation of cellular response to X-ray | 16061642 |
Hgene | HMGA2 | GO:2001022 | positive regulation of response to DNA damage stimulus | 16061642|19465398 |
Hgene | HMGA2 | GO:2001033 | negative regulation of double-strand break repair via nonhomologous end joining | 19549901 |
Hgene | HMGA2 | GO:2001038 | regulation of cellular response to drug | 16061642 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | FJ469146 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
3UTR-intron | ENST00000403681 | ENST00000539935 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
3UTR-intron | ENST00000403681 | ENST00000360283 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
3UTR-intron | ENST00000403681 | ENST00000534999 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
3UTR-intron | ENST00000403681 | ENST00000397327 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
3UTR-intron | ENST00000403681 | ENST00000427385 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
3UTR-intron | ENST00000403681 | ENST00000201943 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
3UTR-intron | ENST00000403681 | ENST00000475848 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000541363 | ENST00000539935 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000541363 | ENST00000360283 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000541363 | ENST00000534999 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000541363 | ENST00000397327 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000541363 | ENST00000427385 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000541363 | ENST00000201943 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000541363 | ENST00000475848 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393577 | ENST00000539935 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393577 | ENST00000360283 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393577 | ENST00000534999 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393577 | ENST00000397327 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393577 | ENST00000427385 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393577 | ENST00000201943 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393577 | ENST00000475848 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393578 | ENST00000539935 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393578 | ENST00000360283 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393578 | ENST00000534999 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393578 | ENST00000397327 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393578 | ENST00000427385 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393578 | ENST00000201943 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000393578 | ENST00000475848 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000425208 | ENST00000539935 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000425208 | ENST00000360283 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000425208 | ENST00000534999 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000425208 | ENST00000397327 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000425208 | ENST00000427385 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000425208 | ENST00000201943 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000425208 | ENST00000475848 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000536545 | ENST00000539935 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000536545 | ENST00000360283 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000536545 | ENST00000534999 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000536545 | ENST00000397327 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000536545 | ENST00000427385 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000536545 | ENST00000201943 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000536545 | ENST00000475848 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000354636 | ENST00000539935 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000354636 | ENST00000360283 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000354636 | ENST00000534999 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000354636 | ENST00000397327 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000354636 | ENST00000427385 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000354636 | ENST00000201943 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
intron-intron | ENST00000354636 | ENST00000475848 | HMGA2 | chr12 | 66357169 | + | CACNB4 | chr2 | 152897521 | - |
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FusionProtFeatures for HMGA2_CACNB4 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
HMGA2 | CACNB4 |
Functions as a transcriptional regulator. Functions incell cycle regulation through CCNA2. Plays an important role inchromosome condensation during the meiotic G2/M transition ofspermatocytes. Plays a role in postnatal myogenesis, is involvedin satellite cell activation (By similarity).{ECO:0000250|UniProtKB:P52927, ECO:0000269|PubMed:14645522}. | The beta subunit of voltage-dependent calcium channelscontributes to the function of the calcium channel by increasingpeak calcium current, shifting the voltage dependencies ofactivation and inactivation, modulating G protein inhibition andcontrolling the alpha-1 subunit membrane targeting.{ECO:0000269|PubMed:11880487}. |
Retention 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 . * 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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FusionGeneSequence for HMGA2_CACNB4 |
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 HMGA2_CACNB4 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for HMGA2_CACNB4 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | CACNB4 | O00305 | DB00661 | Verapamil | Voltage-dependent L-type calcium channel subunit beta-4 {ECO:0000305} | small molecule | approved |
Tgene | CACNB4 | O00305 | DB04855 | Dronedarone | Voltage-dependent L-type calcium channel subunit beta-4 {ECO:0000305} | small molecule | approved |
Tgene | CACNB4 | O00305 | DB00393 | Nimodipine | Voltage-dependent L-type calcium channel subunit beta-4 {ECO:0000305} | small molecule | approved|investigational |
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RelatedDiseases for HMGA2_CACNB4 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HMGA2 | C0005612 | Birth Weight | 1 | CTD_human |
Tgene | CACNB4 | C0004134 | Ataxia | 1 | CTD_human |
Tgene | CACNB4 | C0014548 | Epilepsy, Generalized | 1 | CTD_human |
Tgene | CACNB4 | C0270853 | Myoclonic Epilepsy, Juvenile | 1 | CTD_human;ORPHANET |
Tgene | CACNB4 | C1866039 | EPISODIC ATAXIA, TYPE 5 | 1 | CTD_human;ORPHANET;UNIPROT |