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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:CALM1-GNB1 (FusionGDB2 ID:HG801TG2782)

Fusion Gene Summary for CALM1-GNB1

check button Fusion gene summary
Fusion gene informationFusion gene name: CALM1-GNB1
Fusion gene ID: hg801tg2782
HgeneTgene
Gene symbol

CALM1

GNB1

Gene ID

801

2782

Gene namecalmodulin 1G protein subunit beta 1
SynonymsCALML2|CAM2|CAM3|CAMB|CAMC|CAMI|CAMIII|CPVT4|DD132|LQT14|PHKD|caMMRD42
Cytomap('CALM1')('GNB1')

14q32.11

1p36.33

Type of geneprotein-codingprotein-coding
Descriptioncalmodulin-1Calmodulin-2Calmodulin-3calmodulin 1 (phosphorylase kinase, delta)phosphorylase kinase subunit deltaphosphorylase kinase, delta subunitprepro-calmodulin 1guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1beta subunit, signal-transducing proteins GS/GIguanine nucleotide binding protein (G protein), beta polypeptide 1testicular tissue protein Li 72transducin beta chain 1
Modification date2020032920200321
UniProtAcc.

P62873

Ensembl transtripts involved in fusion geneENST00000555132, ENST00000356978, 
ENST00000447653, ENST00000544280, 
ENST00000553542, 
Fusion gene scores* DoF score13 X 13 X 3=50739 X 29 X 13=14703
# samples 1548
** MAII scorelog2(15/507*10)=-1.75702324650746
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(48/14703*10)=-4.93693233652239
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CALM1 [Title/Abstract] AND GNB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCALM1(90863577)-GNB1(1749314), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCALM1

GO:0010880

regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum

20226167

HgeneCALM1

GO:0032516

positive regulation of phosphoprotein phosphatase activity

8631777

HgeneCALM1

GO:0035307

positive regulation of protein dephosphorylation

8631777

HgeneCALM1

GO:0051343

positive regulation of cyclic-nucleotide phosphodiesterase activity

8631777

HgeneCALM1

GO:0051592

response to calcium ion

7607248

HgeneCALM1

GO:0060314

regulation of ryanodine-sensitive calcium-release channel activity

22067155

HgeneCALM1

GO:0060315

negative regulation of ryanodine-sensitive calcium-release channel activity

26164367

HgeneCALM1

GO:0060316

positive regulation of ryanodine-sensitive calcium-release channel activity

20226167


check buttonFusion gene breakpoints across CALM1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across GNB1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4STADTCGA-EQ-8122-01ACALM1chr14

90863577

+GNB1chr1

1749314

-


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Fusion Gene ORF analysis for CALM1-GNB1

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
3UTR-3CDSENST00000555132ENST00000378609CALM1chr14

90863577

+GNB1chr1

1749314

-
3UTR-intronENST00000555132ENST00000472614CALM1chr14

90863577

+GNB1chr1

1749314

-
5CDS-intronENST00000356978ENST00000472614CALM1chr14

90863577

+GNB1chr1

1749314

-
5UTR-3CDSENST00000447653ENST00000378609CALM1chr14

90863577

+GNB1chr1

1749314

-
5UTR-intronENST00000447653ENST00000472614CALM1chr14

90863577

+GNB1chr1

1749314

-
In-frameENST00000356978ENST00000378609CALM1chr14

90863577

+GNB1chr1

1749314

-
intron-3CDSENST00000544280ENST00000378609CALM1chr14

90863577

+GNB1chr1

1749314

-
intron-3CDSENST00000553542ENST00000378609CALM1chr14

90863577

+GNB1chr1

1749314

-
intron-intronENST00000544280ENST00000472614CALM1chr14

90863577

+GNB1chr1

1749314

-
intron-intronENST00000553542ENST00000472614CALM1chr14

90863577

+GNB1chr1

1749314

-

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)
ENST00000356978CALM1chr1490863577+ENST00000378609GNB1chr11749314-29902512481216322

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
ENST00000356978ENST00000378609CALM1chr1490863577+GNB1chr11749314-0.0014889050.99851114

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Fusion Genomic Features for CALM1-GNB1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for CALM1-GNB1


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/chr14:90863577/chr1:1749314)
- 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
.GNB1

P62873

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: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

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
TgeneGNB1chr14:90863577chr1:1749314ENST00000378609212141_17019872.3333333333334RepeatNote=WD 3
TgeneGNB1chr14:90863577chr1:1749314ENST00000378609212182_21219872.3333333333334RepeatNote=WD 4
TgeneGNB1chr14:90863577chr1:1749314ENST00000378609212224_25419872.3333333333334RepeatNote=WD 5
TgeneGNB1chr14:90863577chr1:1749314ENST00000378609212268_29819872.3333333333334RepeatNote=WD 6
TgeneGNB1chr14:90863577chr1:1749314ENST00000378609212310_34019872.3333333333334RepeatNote=WD 7
TgeneGNB1chr14:90863577chr1:1749314ENST0000037860921253_8319872.3333333333334RepeatNote=WD 1
TgeneGNB1chr14:90863577chr1:1749314ENST0000037860921295_12519872.3333333333334RepeatNote=WD 2

- 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 CALM1-GNB1


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.
>12534_12534_1_CALM1-GNB1_CALM1_chr14_90863577_ENST00000356978_GNB1_chr1_1749314_ENST00000378609_length(transcript)=2990nt_BP=251nt
GATACGGCGCACCATATATATATCGCGGGGCGCAGACTCGCGCTCCGGCAGTGGTGCTGGGAGTGTCGTGGACGCCGTGCCGTTACTCGT
AGTCAGGCGGCGGCGCAGGCGGCGGCGGCGGCATAGCGCACAGCGCGCCTTAGCAGCAGCAGCAGCAGCAGCGGCATCGGAGGTACCCCC
GCCGTCGCAGCCCCCGCGCTGGTGCAGCCACCCTCGCTCCCTCTGCTCTTCCTCCCTTCGCTCGCACCATGGACGCCAGGAAAGCATGTG
CAGATGCAACTCTCTCTCAGATCACAAACAACATCGACCCAGTGGGAAGAATCCAAATGCGCACGAGGAGGACACTGCGGGGGCACCTGG
CCAAGATCTACGCCATGCACTGGGGCACAGACTCCAGGCTTCTCGTCAGTGCCTCGCAGGATGGTAAACTTATCATCTGGGACAGCTACA
CCACCAACAAGGTCCACGCCATCCCTCTGCGCTCCTCCTGGGTCATGACCTGTGCATATGCCCCTTCTGGGAACTATGTGGCCTGCGGTG
GCCTGGATAACATTTGCTCCATTTACAATCTGAAAACTCGTGAGGGGAACGTGCGCGTGAGTCGTGAGCTGGCAGGACACACAGGTTACC
TGTCCTGCTGCCGATTCCTGGATGACAATCAGATCGTCACCAGCTCTGGAGACACCACGTGTGCCCTGTGGGACATCGAGACCGGCCAGC
AGACGACCACGTTTACCGGACACACTGGAGATGTCATGAGCCTTTCTCTTGCTCCTGACACCAGACTGTTCGTCTCTGGTGCTTGTGATG
CTTCAGCCAAACTCTGGGATGTGCGAGAAGGCATGTGCCGGCAGACCTTCACTGGCCACGAGTCTGACATCAATGCCATTTGCTTCTTTC
CAAATGGCAATGCATTTGCCACTGGCTCAGACGACGCCACCTGCAGGCTGTTTGACCTTCGTGCTGACCAGGAGCTCATGACTTACTCCC
ATGACAACATCATCTGCGGGATCACCTCTGTCTCCTTCTCCAAGAGCGGGCGCCTCCTCCTTGCTGGGTACGACGACTTCAACTGCAACG
TCTGGGATGCACTCAAAGCCGACCGGGCAGGTGTCTTGGCTGGGCATGACAACCGCGTCAGCTGCCTGGGCGTGACTGACGATGGCATGG
CTGTGGCGACAGGGTCCTGGGATAGCTTCCTCAAGATCTGGAACTAACGCCAGTAGCATGTGGATGCCATGGAGACTGGAAGACCATTCC
AACTTGGACGCGTTACCATGAGAGCATATCCTATCCAACCGTACTAACGTGGACACCCTACACCTCCCCTCAGAACTTCAAAAGGGCAAG
ATCTTTTTTCCTTCACTTATTGCTGAAACCAAGAGCACAATTCCCATTGAGAGAAAGATCTCTGTGCTGTAAACTAAAACAAATTGTGCA
TTCCTTCCGGGGCCATCGTCTTTGTTTTCTTTTTTGTCTTGAATGAATTTTAAAAGGAAATATATAATAAAAATGTTAACCAGAAGGTAA
ACTTGAGTGTAATTGTCAGACAGACACACTTTTCCACCAGTGTATTTGAATTTTAGACCAGTGACCCTGTTTTGTGGCATTCATGCAAAA
CATGCTGAGGGCTTTGTTCATCTGGTCATCGTGTCCAAATTTCAGTCATGTTTGTAGCAAGATTTTGGAAGCATTCATATTTCCTTTTTA
AAATGTATTCCTTTGTGTTCAACAGTTAATCAAAACCAGAGAGTCTAGGGCAGCCTCTCTGATGTTGTCAATGATGTAAATTCAGTCCCT
GGTTTTTAATTTTCTGTCTGATGTCACAGATCATTGTTGCACACAAACGTGGCATAGAAAAGAACATGTTCAGAAGCCATGGGGCCAAGC
ACATGCGGGGACGGTCTCAAATGCGTGATCAGAGAATCCTTCACCTTTGCTGAAAAGTGAGCTCAGATCCAGCACCATGTTCCTCCTGAC
CCATCCTGTCTATCTTCTCAGTTGAGTTTTTAATCTCACTTTGGGTTTCCTTGTGAAGTTGGAGGGAAGTTTATAATAGCCTAACACTAC
CCCACCCCCAACTAGGAGGAACCTCTGTTTTCAAGAGAGATGCCTGTCCTGTGCTTGGATAGTCAGTCAATTATTTGTGTATGAAACAAT
GTACAAATCAATGTTTTGAAAATAATGATCTCAGACTTTCTAAGTTAAATTTTAAAAATTTTGATTGTTTGCCATATTGGGTGGGTTTAC
TCTTAGAATCGCATGCTGTAGAAATGCTCAAAAGTGCATATGGGACTCAGTCCTTAGGTGTTCTTTTTCTTTTAAGAAATAACCTCTTAC
AGTTGTAACCATTGCGGCTCTGTCCACTTCTCGTTGCTGCTCTGTGGCACATATCGGAAGCAGTACAGCGCGCGGCTCTACACGCTTGGG
TAGCGGGATAAGTCACTGTTTTCTTTATTTCTTTAAAAAAAAAAAAGTTCTGTTGCAAACGACTGCTGTTGGATTCTGAGGGTGGGGAGG
GAGAGAGAGGGAGGGAGAGGGAGTGAAGAGCCTGCCCTCCTATATGGATTCTTCAGGGCCCTCCACATCTGAGGTGGCTCATTCCCATCA
CACACAGATTGTCCTGGTGTTCATTTCAAGGCCAGTGTTCAGCAGCAGCGTTTGGAAAGCAGGTTCTGTGGGACCCCCCGCCCCGCCCCC
CGCACTCCTTCATAGCAGCAGTAGTGGCTTCTCCATCCTGTTTTCTGCAACATTCTATACAAAACTGTGCTGTGACCTTGCGGTAGGCCT
GGATCTGGCAAAGAGAATACAAATGAAACCCCTTCTTTCTCTTTCCGTCCAACAACTCTGTAGAGCTCTCTGCACCCTTACCCCTTTCCA
CCTTTTGTATTTAATTTTAAAGTCAGTGTACTGCAAGGAAGCTGGATGCAAGATAGATACTATATTAAACTGTACTGTTATTTAAGATGT

>12534_12534_1_CALM1-GNB1_CALM1_chr14_90863577_ENST00000356978_GNB1_chr1_1749314_ENST00000378609_length(amino acids)=322AA_BP=1
MDARKACADATLSQITNNIDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVSASQDGKLIIWDSYTTNKVHAIPLRSSWVMTCAYAPS
GNYVACGGLDNICSIYNLKTREGNVRVSRELAGHTGYLSCCRFLDDNQIVTSSGDTTCALWDIETGQQTTTFTGHTGDVMSLSLAPDTRL
FVSGACDASAKLWDVREGMCRQTFTGHESDINAICFFPNGNAFATGSDDATCRLFDLRADQELMTYSHDNIICGITSVSFSKSGRLLLAG

--------------------------------------------------------------

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Fusion Gene PPI Analysis for CALM1-GNB1


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 CALM1-GNB1


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 CALM1-GNB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCALM1C4015671LONG QT SYNDROME 147CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCALM1C3554047VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 46GENOMICS_ENGLAND;UNIPROT
HgeneCALM1C0035828Romano-Ward Syndrome2ORPHANET
HgeneCALM1C1631597VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCALM1C0002395Alzheimer's Disease1CTD_human
HgeneCALM1C0006868Cannabis Abuse1CTD_human
HgeneCALM1C0006870Cannabis Dependence1CTD_human
HgeneCALM1C0009171Cocaine Abuse1CTD_human
HgeneCALM1C0011265Presenile dementia1CTD_human
HgeneCALM1C0018614Hashish Abuse1CTD_human
HgeneCALM1C0024809Marijuana Abuse1CTD_human
HgeneCALM1C0031391Phencyclidine Abuse1CTD_human
HgeneCALM1C0043094Weight Gain1CTD_human
HgeneCALM1C0236735Cannabis-Related Disorder1CTD_human
HgeneCALM1C0236736Cocaine-Related Disorders1CTD_human
HgeneCALM1C0236742Phencyclidine-Related Disorders1CTD_human
HgeneCALM1C0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneCALM1C0494463Alzheimer Disease, Late Onset1CTD_human
HgeneCALM1C0546126Acute Confusional Senile Dementia1CTD_human
HgeneCALM1C0600427Cocaine Dependence1CTD_human
HgeneCALM1C0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneCALM1C0750901Alzheimer Disease, Early Onset1CTD_human
TgeneC4310774MENTAL RETARDATION, AUTOSOMAL DOMINANT 425CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0003469Anxiety Disorders1CTD_human
TgeneC0011573Endogenous depression1CTD_human
TgeneC0011581Depressive disorder1CTD_human
TgeneC0025193Melancholia1CTD_human
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0041696Unipolar Depression1CTD_human
TgeneC0086133Depressive Syndrome1CTD_human
TgeneC0282126Depression, Neurotic1CTD_human
TgeneC0376280Anxiety States, Neurotic1CTD_human
TgeneC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC1279420Anxiety neurosis (finding)1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND