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Fusion gene ID: 7226 |
FusionGeneSummary for CIB2_ACSBG1 |
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Fusion gene information | Fusion gene name: CIB2_ACSBG1 | Fusion gene ID: 7226 | Hgene | Tgene | Gene symbol | CIB2 | ACSBG1 | Gene ID | 10518 | 23205 |
Gene name | calcium and integrin binding family member 2 | acyl-CoA synthetase bubblegum family member 1 | |
Synonyms | DFNB48|KIP2|USH1J | BG|BG1|BGM|GR-LACS|LPD | |
Cytomap | 15q25.1 | 15q25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | calcium and integrin-binding family member 2DNA-dependent protein kinase catalytic subunit-interacting protein 2 | long-chain-fatty-acid--CoA ligase ACSBG1bubblegumlipidosinvery long-chain acyl-CoA synthetase | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | O75838 | Q96GR2 | |
Ensembl transtripts involved in fusion gene | ENST00000258930, ENST00000539011, ENST00000557846, ENST00000560618, | ENST00000258873, ENST00000541759, ENST00000560817, ENST00000558828, | |
Fusion gene scores | * DoF score | 1 X 2 X 1=2 | 3 X 3 X 3=27 |
# samples | 1 | 3 | |
** MAII score | log2(1/2*10)=2.32192809488736 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CIB2 [Title/Abstract] AND ACSBG1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CIB2 | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 23023331|26173970 |
Hgene | CIB2 | GO:0071318 | cellular response to ATP | 23023331|26173970 |
Tgene | ACSBG1 | GO:0000038 | very long-chain fatty acid metabolic process | 10954726 |
Tgene | ACSBG1 | GO:0001676 | long-chain fatty acid metabolic process | 10954726 |
![]() (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 |
TCGA | RV | READ | TCGA-AF-5654-01A | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
TCGA | LD | READ | TCGA-AF-5654-01A | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
In-frame | ENST00000258930 | ENST00000258873 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
5CDS-intron | ENST00000258930 | ENST00000541759 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
5CDS-intron | ENST00000258930 | ENST00000560817 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
5CDS-5UTR | ENST00000258930 | ENST00000558828 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-3CDS | ENST00000539011 | ENST00000258873 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000539011 | ENST00000541759 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000539011 | ENST00000560817 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-5UTR | ENST00000539011 | ENST00000558828 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-3CDS | ENST00000557846 | ENST00000258873 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000557846 | ENST00000541759 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000557846 | ENST00000560817 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-5UTR | ENST00000557846 | ENST00000558828 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-3CDS | ENST00000560618 | ENST00000258873 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000560618 | ENST00000541759 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000560618 | ENST00000560817 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-5UTR | ENST00000560618 | ENST00000558828 | CIB2 | chr15 | 78416047 | - | ACSBG1 | chr15 | 78500444 | - |
intron-3CDS | ENST00000258930 | ENST00000258873 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000258930 | ENST00000541759 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000258930 | ENST00000560817 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-5UTR | ENST00000258930 | ENST00000558828 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-3CDS | ENST00000539011 | ENST00000258873 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000539011 | ENST00000541759 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000539011 | ENST00000560817 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-5UTR | ENST00000539011 | ENST00000558828 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-3CDS | ENST00000557846 | ENST00000258873 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000557846 | ENST00000541759 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000557846 | ENST00000560817 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-5UTR | ENST00000557846 | ENST00000558828 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-3CDS | ENST00000560618 | ENST00000258873 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000560618 | ENST00000541759 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-intron | ENST00000560618 | ENST00000560817 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
intron-5UTR | ENST00000560618 | ENST00000558828 | CIB2 | chr15 | 78412910 | - | ACSBG1 | chr15 | 78500444 | - |
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FusionProtFeatures for CIB2_ACSBG1 |
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Hgene | Tgene |
CIB2 | ACSBG1 |
Calcium-binding protein critical for properphotoreceptor cell maintenance and function. Plays a role inintracellular calcium homeostasis by decreasing ATP-inducedcalcium release (PubMed:23023331, PubMed:26173970,PubMed:26426422). May be involved in the mechanotransductionprocess (By similarity). {ECO:0000250,ECO:0000269|PubMed:23023331, ECO:0000269|PubMed:26173970,ECO:0000269|PubMed:26426422}. | Mediates activation of long-chain fatty acids for bothsynthesis of cellular lipids, and degradation via beta-oxidation.Able to activate long-chain fatty acids. Also able to activatevery long-chain fatty acids; however, the relevance of suchactivity is unclear in vivo. Can activate diverse saturated,monosaturated and polyunsaturated fatty acids.{ECO:0000269|PubMed:10954726, ECO:0000269|PubMed:12975357}. |
![]() * 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 |
Tgene | >ACSBG1 | chr15:78416047 | chr15:78500444 | ENST00000258873 | - | 0 | 14 | 282_290 | 43 | 725 | Nucleotide binding | ATP |
Tgene | >ACSBG1 | chr15:78416047 | chr15:78500444 | ENST00000258873 | - | 0 | 14 | 472_477 | 43 | 725 | Nucleotide binding | ATP |
- 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 |
Hgene | >CIB2 | chr15:78416047 | chr15:78500444 | ENST00000258930 | - | 2 | 6 | 116_127 | 28 | 188 | Calcium binding | 1 |
Hgene | >CIB2 | chr15:78416047 | chr15:78500444 | ENST00000258930 | - | 2 | 6 | 157_168 | 28 | 188 | Calcium binding | 2 |
Hgene | >CIB2 | chr15:78416047 | chr15:78500444 | ENST00000258930 | - | 2 | 6 | 103_138 | 28 | 188 | Domain | EF-hand 2 |
Hgene | >CIB2 | chr15:78416047 | chr15:78500444 | ENST00000258930 | - | 2 | 6 | 144_179 | 28 | 188 | Domain | EF-hand 3 |
Hgene | >CIB2 | chr15:78416047 | chr15:78500444 | ENST00000258930 | - | 2 | 6 | 66_101 | 28 | 188 | Domain | EF-hand 1 |
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FusionGeneSequence for CIB2_ACSBG1 |
![]() (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 CIB2_ACSBG1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CIB2 | EMC2 | ACSBG1 | GSK3B, APP |
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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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RelatedDrugs for CIB2_ACSBG1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | CIB2 | O75838 | DB11093 | Calcium Citrate | Calcium and integrin-binding family member 2 | small molecule | approved |
Hgene | CIB2 | O75838 | DB11348 | Calcium Phosphate | Calcium and integrin-binding family member 2 | small molecule | approved |
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RelatedDiseases for CIB2_ACSBG1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CIB2 | C1836199 | DEAFNESS, AUTOSOMAL RECESSIVE 48 | 3 | UNIPROT |
Hgene | CIB2 | C3553944 | USHER SYNDROME, TYPE IJ | 1 | CTD_human;UNIPROT |