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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 7226

FusionGeneSummary for CIB2_ACSBG1

check button Fusion gene summary
Fusion gene informationFusion gene name: CIB2_ACSBG1
Fusion gene ID: 7226
HgeneTgene
Gene symbol

CIB2

ACSBG1

Gene ID

10518

23205

Gene namecalcium and integrin binding family member 2acyl-CoA synthetase bubblegum family member 1
SynonymsDFNB48|KIP2|USH1JBG|BG1|BGM|GR-LACS|LPD
Cytomap

15q25.1

15q25.1

Type of geneprotein-codingprotein-coding
Descriptioncalcium and integrin-binding family member 2DNA-dependent protein kinase catalytic subunit-interacting protein 2long-chain-fatty-acid--CoA ligase ACSBG1bubblegumlipidosinvery long-chain acyl-CoA synthetase
Modification date2018051920180519
UniProtAcc

O75838

Q96GR2

Ensembl transtripts involved in fusion geneENST00000258930, ENST00000539011, 
ENST00000557846, ENST00000560618, 
ENST00000258873, ENST00000541759, 
ENST00000560817, ENST00000558828, 
Fusion gene scores* DoF score1 X 2 X 1=23 X 3 X 3=27
# samples 13
** MAII scorelog2(1/2*10)=2.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCIB2

GO:0007204

positive regulation of cytosolic calcium ion concentration

23023331|26173970

HgeneCIB2

GO:0071318

cellular response to ATP

23023331|26173970

TgeneACSBG1

GO:0000038

very long-chain fatty acid metabolic process

10954726

TgeneACSBG1

GO:0001676

long-chain fatty acid metabolic process

10954726


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVREADTCGA-AF-5654-01ACIB2chr15

78416047

-ACSBG1chr15

78500444

-
TCGALDREADTCGA-AF-5654-01ACIB2chr15

78412910

-ACSBG1chr15

78500444

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000258930ENST00000258873CIB2chr15

78416047

-ACSBG1chr15

78500444

-
5CDS-intronENST00000258930ENST00000541759CIB2chr15

78416047

-ACSBG1chr15

78500444

-
5CDS-intronENST00000258930ENST00000560817CIB2chr15

78416047

-ACSBG1chr15

78500444

-
5CDS-5UTRENST00000258930ENST00000558828CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-3CDSENST00000539011ENST00000258873CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-intronENST00000539011ENST00000541759CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-intronENST00000539011ENST00000560817CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-5UTRENST00000539011ENST00000558828CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-3CDSENST00000557846ENST00000258873CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-intronENST00000557846ENST00000541759CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-intronENST00000557846ENST00000560817CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-5UTRENST00000557846ENST00000558828CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-3CDSENST00000560618ENST00000258873CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-intronENST00000560618ENST00000541759CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-intronENST00000560618ENST00000560817CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-5UTRENST00000560618ENST00000558828CIB2chr15

78416047

-ACSBG1chr15

78500444

-
intron-3CDSENST00000258930ENST00000258873CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-intronENST00000258930ENST00000541759CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-intronENST00000258930ENST00000560817CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-5UTRENST00000258930ENST00000558828CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-3CDSENST00000539011ENST00000258873CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-intronENST00000539011ENST00000541759CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-intronENST00000539011ENST00000560817CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-5UTRENST00000539011ENST00000558828CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-3CDSENST00000557846ENST00000258873CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-intronENST00000557846ENST00000541759CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-intronENST00000557846ENST00000560817CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-5UTRENST00000557846ENST00000558828CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-3CDSENST00000560618ENST00000258873CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-intronENST00000560618ENST00000541759CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-intronENST00000560618ENST00000560817CIB2chr15

78412910

-ACSBG1chr15

78500444

-
intron-5UTRENST00000560618ENST00000558828CIB2chr15

78412910

-ACSBG1chr15

78500444

-

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FusionProtFeatures for CIB2_ACSBG1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CIB2

O75838

ACSBG1

Q96GR2

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}.

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
TgeneACSBG1chr15:78416047chr15:78500444ENST00000258873-014282_29043725Nucleotide bindingATP
TgeneACSBG1chr15:78416047chr15:78500444ENST00000258873-014472_47743725Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCIB2chr15:78416047chr15:78500444ENST00000258930-26116_12728188Calcium binding1
HgeneCIB2chr15:78416047chr15:78500444ENST00000258930-26157_16828188Calcium binding2
HgeneCIB2chr15:78416047chr15:78500444ENST00000258930-26103_13828188DomainEF-hand 2
HgeneCIB2chr15:78416047chr15:78500444ENST00000258930-26144_17928188DomainEF-hand 3
HgeneCIB2chr15:78416047chr15:78500444ENST00000258930-2666_10128188DomainEF-hand 1


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FusionGeneSequence for CIB2_ACSBG1


check button 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 CIB2_ACSBG1


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
CIB2EMC2ACSBG1GSK3B, APP


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


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RelatedDrugs for CIB2_ACSBG1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCIB2O75838DB11093Calcium CitrateCalcium and integrin-binding family member 2small moleculeapproved
HgeneCIB2O75838DB11348Calcium PhosphateCalcium and integrin-binding family member 2small moleculeapproved

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RelatedDiseases for CIB2_ACSBG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCIB2C1836199DEAFNESS, AUTOSOMAL RECESSIVE 483UNIPROT
HgeneCIB2C3553944USHER SYNDROME, TYPE IJ1CTD_human;UNIPROT