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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:GBAP1-CABIN1 (FusionGDB2 ID:HG2630TG23523)

Fusion Gene Summary for GBAP1-CABIN1

check button Fusion gene summary
Fusion gene informationFusion gene name: GBAP1-CABIN1
Fusion gene ID: hg2630tg23523
HgeneTgene
Gene symbol

GBAP1

CABIN1

Gene ID

2630

23523

Gene namecalcineurin binding protein 1
SynonymsCAIN|KB-318B8.7|PPP3IN
Cytomap('GBA','GBAP1')('CABIN1','CABIN1')

22q11.23

Type of geneprotein-coding
Descriptioncalcineurin-binding protein cabin-1calcineurin binding protein cabin 1calcineurin inhibitor
Modification date20200313
UniProtAcc.

Q9Y6J0

Ensembl transtripts involved in fusion geneENST00000327247, ENST00000368373, 
ENST00000427500, ENST00000428024, 
ENST00000536770, ENST00000493842, 
ENST00000486869, 
Fusion gene scores* DoF score5 X 10 X 5=25013 X 11 X 7=1001
# samples 615
** MAII scorelog2(6/250*10)=-2.05889368905357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/1001*10)=-2.73840756834011
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GBAP1 [Title/Abstract] AND CABIN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGBA(155207132)-CABIN1(24574329), # samples:1
GBAP1(155186175)-CABIN1(24574329), # samples:2
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
TgeneCABIN1

GO:0006336

DNA replication-independent nucleosome assembly

14718166



check button Fusion gene information
* 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
ChimerDB4GBMTCGA-06-0141-01AGBAchr1

155207132

-CABIN1chr22

24574329

+
ChimerDB4GBMTCGA-06-0141-01AGBAP1chr1

155186175

-CABIN1chr22

24574329

+


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Fusion Gene ORF analysis for GBAP1-CABIN1

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
5CDS-3UTRENST00000327247ENST00000263119GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000327247ENST00000337989GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000327247ENST00000398319GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000327247ENST00000405822GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000368373ENST00000263119GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000368373ENST00000337989GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000368373ENST00000398319GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000368373ENST00000405822GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000427500ENST00000263119GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000427500ENST00000337989GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000427500ENST00000398319GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000427500ENST00000405822GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000428024ENST00000263119GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000428024ENST00000337989GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000428024ENST00000398319GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000428024ENST00000405822GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000536770ENST00000263119GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000536770ENST00000337989GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000536770ENST00000398319GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-3UTRENST00000536770ENST00000405822GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-intronENST00000327247ENST00000485008GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-intronENST00000368373ENST00000485008GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-intronENST00000427500ENST00000485008GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-intronENST00000428024ENST00000485008GBAchr1

155207132

-CABIN1chr22

24574329

+
5CDS-intronENST00000536770ENST00000485008GBAchr1

155207132

-CABIN1chr22

24574329

+
intron-3UTRENST00000493842ENST00000263119GBAchr1

155207132

-CABIN1chr22

24574329

+
intron-3UTRENST00000493842ENST00000337989GBAchr1

155207132

-CABIN1chr22

24574329

+
intron-3UTRENST00000493842ENST00000398319GBAchr1

155207132

-CABIN1chr22

24574329

+
intron-3UTRENST00000493842ENST00000405822GBAchr1

155207132

-CABIN1chr22

24574329

+
intron-intronENST00000493842ENST00000485008GBAchr1

155207132

-CABIN1chr22

24574329

+
5UTR-3UTRENST00000486869ENST00000263119GBAP1chr1

155186175

-CABIN1chr22

24574329

+
5UTR-3UTRENST00000486869ENST00000337989GBAP1chr1

155186175

-CABIN1chr22

24574329

+
5UTR-3UTRENST00000486869ENST00000398319GBAP1chr1

155186175

-CABIN1chr22

24574329

+
5UTR-3UTRENST00000486869ENST00000405822GBAP1chr1

155186175

-CABIN1chr22

24574329

+
5UTR-intronENST00000486869ENST00000485008GBAP1chr1

155186175

-CABIN1chr22

24574329

+

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

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Fusion Genomic Features for GBAP1-CABIN1


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)


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Fusion Protein Features for GBAP1-CABIN1


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/:155207132/:24574329)
- 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
.CABIN1

Q9Y6J0

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: May be required for replication-independent chromatin assembly. May serve as a negative regulator of T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent on both PKC and calcium signals. Acts as a negative regulator of p53/TP53 by keeping p53 in an inactive state on chromatin at promoters of a subset of it's target genes. {ECO:0000269|PubMed:14718166, ECO:0000269|PubMed:9655484}.

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


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Fusion Gene Sequence for GBAP1-CABIN1


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.

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Fusion Gene PPI Analysis for GBAP1-CABIN1


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


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Related Drugs for GBAP1-CABIN1


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

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Related Diseases for GBAP1-CABIN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGBAC1961835Gaucher Disease, Type 162CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneGBAC0268250Gaucher Disease, Type 2 (disorder)21CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneGBAC0268251Gaucher Disease, Type 3 (disorder)15CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneGBAC0017205Gaucher Disease10CTD_human;GENOMICS_ENGLAND
HgeneGBAC1842704GAUCHER DISEASE, PERINATAL LETHAL8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneGBAC1856476Gaucher Disease, Type Iiic6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneGBAC3160718PARKINSON DISEASE, LATE-ONSET3CTD_human;GENOMICS_ENGLAND
HgeneGBAC0030567Parkinson Disease2CTD_human
HgeneGBAC0020542Pulmonary Hypertension1CTD_human
HgeneGBAC0036572Seizures1GENOMICS_ENGLAND
HgeneGBAC0242422Parkinsonian Disorders1CTD_human
HgeneGBAC0242423Ramsay Hunt Paralysis Syndrome1CTD_human
HgeneGBAC0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
HgeneGBAC0752098Autosomal Dominant Parkinsonism1CTD_human
HgeneGBAC0752100Autosomal Recessive Parkinsonism1CTD_human
HgeneGBAC0752101Parkinsonism, Experimental1CTD_human
HgeneGBAC0752104Familial Juvenile Parkinsonism1CTD_human
HgeneGBAC0752105Parkinsonism, Juvenile1CTD_human
HgeneGBAC0752347Lewy Body Disease1CTD_human
HgeneGBAC1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
HgeneGBAC2931585Gaucher-like disease1ORPHANET
TgeneC0018800Cardiomegaly1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human