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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:CCK-EXOC6B (FusionGDB2 ID:HG885TG23233)

Fusion Gene Summary for CCK-EXOC6B

check button Fusion gene summary
Fusion gene informationFusion gene name: CCK-EXOC6B
Fusion gene ID: hg885tg23233
HgeneTgene
Gene symbol

CCK

EXOC6B

Gene ID

885

23233

Gene namecholecystokininexocyst complex component 6B
Synonyms-SEC15B|SEC15L2|SEMDJL3
Cytomap('CCK')('EXOC6B')

3p22.1

2p13.2

Type of geneprotein-codingprotein-coding
Descriptioncholecystokinincholecystokinin triacontatriapeptideprepro-cholecystokininexocyst complex component 6BSEC15 homolog BSEC15-like protein 2exocyst complex component Sec15B
Modification date2020031320200313
UniProtAcc

P06307

.
Ensembl transtripts involved in fusion geneENST00000334681, ENST00000396169, 
ENST00000434608, 
Fusion gene scores* DoF score3 X 3 X 1=910 X 8 X 6=480
# samples 311
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(11/480*10)=-2.12553088208386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCK [Title/Abstract] AND EXOC6B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCK(42304909)-EXOC6B(72562151), # samples:1
Anticipated loss of major functional domain due to fusion event.CCK-EXOC6B seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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

check buttonFusion gene breakpoints across CCK (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 EXOC6B (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


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Fusion Gene ORF analysis for CCK-EXOC6B

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

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
ENST00000396169ENST00000272427CCKchr342304909-EXOC6Bchr272562151-0.0051372220.99486274

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Fusion Genomic Features for CCK-EXOC6B


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 CCK-EXOC6B


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/chr3:42304909/chr2:72562151)
- 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
CCK

P06307

.
FUNCTION: This peptide hormone induces gall bladder contraction and the release of pancreatic enzymes in the gut. Its function in the brain is not clear. Binding to CCK-A receptors stimulates amylase release from the pancreas, binding to CCK-B receptors stimulates gastric acid secretion.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}.

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
TgeneEXOC6Bchr3:42304909chr2:72562151ENST00000272427182250_119707812.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for CCK-EXOC6B


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.
>14035_14035_1_CCK-EXOC6B_CCK_chr3_42304909_ENST00000396169_EXOC6B_chr2_72562151_ENST00000272427_length(transcript)=4785nt_BP=1120nt
CTGGCGTTGCCACAGTCCCTCCATTCCAGAGGGAATTCCAGAGCGGAATACGGATTCCGATTTTAAAATAAGCGCTTCTAAATCTTTCTC
CTTGCATCTAAGACGGGTGGGGGAAAGAAAGGGAGAGGAGTTGAGGTCCCAAGGTTCAAGGCCTGGTGATCTCCAGGTCCCAGGCTGGGC
GGCCTCGGTGCACGGAGAGGGCGAGGGGCGTGTTGTGGAGCCTTGGCAAGGCGCTGCTCTTCCTCGCGCCTCGGTTTGCGGTCTGTGAAA
TGGGGTTGGCAGTGCCTTTGCAGGGACGCGGCGAACTCAAGCACCAGCAAGCGGACTCGAACTCAAAGGGTTTCAGGGTGTAGACGACCA
GAGCGCACTGAGGGGCTCCAGGTCGGCCCGCTCCGGAGCCGGGAGAGTAACCGCGTGCAGGGAAAGGCGCACGGCAGCCTCGGTGCCTCC
CTTCCCTCCACCGGACGGGTGACTGACTAGGGGTGAGGTCCTCACCTCCAGGCTGCGCAGCTGAGTTCTGGAAGCTGCGTCAAGAGAGGC
CCAGGACACCAAGAGCCAGCTGTGGCCAGAGCCCTTTCACTGACCCAGAACACTGGCCCTCGGAAACCTGGAGAACTGCGAGGGCTTTTA
ATGCGGCTGAGAAGAAAGTGAAGACCCCGACTCCTCCTCTCTCCTTCGAAAGAGCCGACACAGGAGCCACTTCAACCGGTTGTCGCCCCA
GTGGCCGCCCTCTGAGCACGTGTTACTGCCAGTCTGCGTCAGCGTTGGGTAAATACATGACTGGCCGACGCCGCCGGGTGGGGCTATTTA
AGAGACAGCCGCCCGCTGGTCCTCCCTGAACTTGGCTCAGCTGCCGGGCTGCTCCGGTTGGAAACGCCAAGCCAGCTGCGTCCTAATCCA
AAAGCCATGAACAGCGGCGTGTGCCTGTGCGTGCTGATGGCGGTACTGGCGGCTGGCGCCCTGACGCAGCCGGTGCCTCCCGCAGATCCC
GCGGGCTCCGGGCTGCAGCGGGCAGAGGAGGCGCCCCGTAGGCAGCTGAGGGTATCGCAGAGAACGGATGGCGAGTCCCGAGCGCACCTG
GGCGCCCTGCTGGCAAGATACATCCAGCAGGCCCGGAAAGAGTTTGCCAGATCCGGCCCGGTGCCTGGGTTCCAGGAGGACACGCTGCAG
TTGGCCTTCATCGACTTGAGACAACTTTTGGATCTTTTCATCCAGTGGGATTGGTCAACCTACCTTGCTGACTATGGTCAGCCCAACTGC
AAGTACCTCCGGGTAAACCCAGTGACTGCTCTGACCCTGCTTGAGAAGATGAAGGATACTAGCCGCAAGAACAACATGTTTGCACAGTTT
CGGAAAAATGAGCGAGACAAGCAGAAACTCATTGACACCGTGGCCAAGCAGCTCCGAGGACTCATCAGCAGCCACCACTCATGAAGGGTG
ACCCCGGACCCACAGAGGCGACCTGCTGCAGCCTCTGTGTCAGTCTGGGGTCCAGCCCCAGCTGACCCTGCATTTGTGCATTCTTCTTCA
AAGAGAGCATATGTATTTTTTTATTAACCCCTGTGCAGTATTCACATAACATTTCCCTATAGTAAAAGAGGCACAAGAATAAGCAAGTAC
ATGAGATGTTGCTAGGCTGGGACTCAGGGGAAGTTATTACTACACTATCTGTGTTATCTTAGAGATGGTGGTATCATCAATTCCACAGTG
ATGAACCACCTTTCATCCATGGCTCTAAAGCTTAGGTCTGGGGCTTAGGAACCATAAAAAGTGGGTATCTGGCGCTGGGAGGTAGAGTGA
GTAAGCAAAAGGATACTAAAATATGTCCTGTTCACTCTTGGATGCCCATTCACCACATAGATGAGGCTGATTCTTCTCAATACAAGGAAA
GGGCATGGCAAACATTACTATTTAGTACACTAAGGGCAGCTCTGGAGGGTCATCTCCTCAGTCTGCTGACTTTCACTGGCTTGTGAACAA
GCATGGCATATGGCAAGATGACAGCTTCATTCCAATCCCCCAAGAATGGCGGTTTCTTTAGCCTGATCTAACCCCAGGCTTTTATTGCAA
TTTTTTCTAGGGCAGGATACAGCTAAGTAGACAGCAGTAATAATTGGATCCCATGTTTAACTGCATATTGCCCCAGCTCTAGGAGTGTTG
AGTCTCAACTCGAAGAGTTTTTCTGGATCTTGAAAGCCAGTTTTCATGGAATCAGAGACCCAATCCCTTCCCTGTTCATCTCATTTCCTT
CACTTACAGTCAGAGCACTTGGTTCAGGACATAAATCAACAGTTACTTCCATAGGCCTTCACAGGGCGTTTCAGACTTAGCCTCCTCCAG
TAATGCCATTGAAATAGTTCAGATTTCGGAAGCCTAAAAATGGCCTTTACCTTACCCTTAGGTGTAACCTGAGGATTAGTTGGGATTGTT
CCTTTATGTTTTAAAACCAGCTTTTTGGTTATCATCTTTAAGGAAATGTCACCAGCTCTGCACTGTGGGGGCAGCCATGCCTGGACTGGA
TGCCTCTAGGGATGGAGACATTGTTACCATAAAGTCGACAGAGCCAACCATGGCTTGTGGCTTGTTGCCTCTGGCCCAACTGTCCTTCAC
TAAATAATATCCTAGATATTATTTTGTTGCTCAAGCCCAAGGTTCCCACCCTCTTTTGAGATCCCCAAAGCCATCTTTGGCCTTGTCTAA
GAAAGATTGCCTATAATCCTGTCCTCCAAACTCTAAAGCCTGGAGCAGCTTAGCGTGGAGGCTGCACTCATTGACCCAGATGGACTCCTG
AGACTTAACGCAAGGGCTTTGCTATGAGGTCAGTCGGGGGAAACTGTACTTTAAGACACTTCAGAAAGATGCTACTGGCTAGTAGCAGAA
AGATGGCTAGTGGCAAGAGTATAATTGTGCATCACCAAACAATGACAAATAAGCCACACAGGCATTTCCAGCTTGGATTGATGGGAGGAG
AGACTCATCAAACAGAATTCTTCACTACCTTTGTCAGCTACTGAGTTGCTTCTGGGGAGGGAAGTACTTCCTTGCCCCTCCCCAACCCCC
CTACCTCACCATATCCTATCATATCTTGATAGTCATGGGGAAGAGGATGTGCACACAGACATACAAATTTCCTCAAAGCTGGAGAGACCA
GGCTACATGTGAGCTCATAGATGCTGCTGAGGCTCATCCTGAGGGCTGGATGGTTGGCCAGGGTTTCAGAATGAGGGTAAGGGATGAGCA
CTGCCACCCAGAACTTGATAAGCCAAGAGAAGGCAGGAGCCAAAATGGCATCGCCAAGCTCTCATCTTTGTTGAAACAAGTGAGAAACGA
TTATATTAATCTGAAGTTCTATTGCTTGAGAAGAGTTCAAAACACTTCTCTTTGCTAGTACCCAGTTTGCAGCAAGATCTCTTCAGCTTT
AAGTGCTGAGAGACTTTGAAGTGGAAATGGAGAGATGTGTAAGCATGGCACAGTGTTTGTCTTTTTAGAGGATCATCATTGCTGGTCTGG
TCTCAAACCTCTGCCTTGGAAGAACTGTGCTATACAGGAAAAAGTGAACAAGGTGGAGGAATAGGGGTTATTCTGCACAGAAGTCCCATG
AAAGGAAAAGCTTATTCAAGCTCAAGACATAAAGATGGACCCTTTGATATATCTTCTCTCCATTCTTAGTCTGCCTTCACCTTATCTAAC
AAAAAACAACATGCAGCTACTGAGTTGTATGTAGAGACATACTCTTGGTGGGCCAGGGAAGGTAAAAACAGGGACCAGCAATGTCAAGTT
TTTGAACTAGAAAAGTGGGATGTTTTTAGTTTTGTCTATAACCTGTAGCTGGGCCAACCCTTGAGAGGACTTGTGCAAAGCATGTGTGCC
CAGACCCATCAGACTCCTCAGATATGGCCTCAAATACCTAGAGATGTAGAAGTACCGTGGAGGGCCTCAATAAGAGGGCAAGCACACAGA
TGGCTAGAAGCCTGTATGGCTTCTGGTCAGGATGAACCCTTGGCCAAGTTCTTGAGGAAACCAGGTCTATATTCCTGAAGGGACAGTTCA
GTTTGGGACTCTATTAGGTTTCAGTAGTAATATAGGCTGCTTGCATCATTTTAACATTCATAGGGAAAATCTCTTTGAGCAGGCTATAAA
TGAAGCTGTTGCAGGTAGGGAAGAACAGGACCTGAAAATGGGAACCAGGAAGTGAGATCCTGTTGGCAAAGGGAATGTAGAGCTTCCAGG
GTGCATTGCCCACTGTTCTCATTGCATACCAGTCCTCCAAGTCAGTCTAGCCTTACTGTACACTTGACAAGTGCTTACTCAGCAAGTCCC
AGACCCACGGCCTTTTATCTCCCAAGACTGGCTTTGGCCATGACCTTCCTCATCAGGCCTCTGAGCACACTCTCTAGGAACTGCTGCAGA
AATTCCCCTACCTTAGCCTCCCTTCTCCCAGGACTCCTCTCTTGACTGCAATTGCCTCTTCTTCTTCTTCTTCTTCTTCCTTTTTGTTTT
TTTTTTTTTTGCCTGCATTCACAATTACTTTTCACAAAGGTGTTGGAAATGGCATTTTTATTTTACACAGATAGTTGCACATATATAGAG
AAAATTAGGAAAGTCCATTTTTAACTCTAAAGGGAACTTTTTTCTCTAAAACTTACTTGTAAAGCTACTGATACAGATGGGCCGCATGGT
TAGGGGAAAGCTCCTCTGTGAAAAGAGCATGTTTATTCCTCTTGTACATTTTCCTCTTTTAACTGCTATTAAACAAGAAAGCCTACATAC

>14035_14035_1_CCK-EXOC6B_CCK_chr3_42304909_ENST00000396169_EXOC6B_chr2_72562151_ENST00000272427_length(amino acids)=217AA_BP=113
MADAAGWGYLRDSRPLVLPELGSAAGLLRLETPSQLRPNPKAMNSGVCLCVLMAVLAAGALTQPVPPADPAGSGLQRAEEAPRRQLRVSQ
RTDGESRAHLGALLARYIQQARKEFARSGPVPGFQEDTLQLAFIDLRQLLDLFIQWDWSTYLADYGQPNCKYLRVNPVTALTLLEKMKDT

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

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Fusion Gene PPI Analysis for CCK-EXOC6B


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 CCK-EXOC6B


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 CCK-EXOC6B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCCKC0038358Gastric ulcer6CTD_human
HgeneCCKC0001973Alcoholic Intoxication, Chronic2PSYGENET
HgeneCCKC0003123Anorexia2CTD_human
HgeneCCKC0007370Catalepsy2CTD_human
HgeneCCKC0030305Pancreatitis2CTD_human
HgeneCCKC0036341Schizophrenia2PSYGENET
HgeneCCKC0233612Waxy flexibility2CTD_human
HgeneCCKC0751217Hyperkinesia, Generalized2CTD_human
HgeneCCKC3887506Hyperkinesia2CTD_human
HgeneCCKC0009438Common Bile Duct Calculi1CTD_human
HgeneCCKC0013386Dyskinesia, Drug-Induced1CTD_human
HgeneCCKC0015967Fever1CTD_human
HgeneCCKC0017178Gastrointestinal Diseases1CTD_human
HgeneCCKC0021368Inflammation1CTD_human
HgeneCCKC0022333Jacksonian Seizure1CTD_human
HgeneCCKC0023895Liver diseases1CTD_human
HgeneCCKC0036572Seizures1CTD_human
HgeneCCKC0041657Unconscious State1CTD_human
HgeneCCKC0086565Liver Dysfunction1CTD_human
HgeneCCKC0149504Encephalopathy, Toxic1CTD_human
HgeneCCKC0149958Complex partial seizures1CTD_human
HgeneCCKC0154659Toxic Encephalitis1CTD_human
HgeneCCKC0234533Generalized seizures1CTD_human
HgeneCCKC0234535Clonic Seizures1CTD_human
HgeneCCKC0235032Neurotoxicity Syndromes1CTD_human
HgeneCCKC0242216Biliary calculi1CTD_human
HgeneCCKC0270824Visual seizure1CTD_human
HgeneCCKC0270844Tonic Seizures1CTD_human
HgeneCCKC0270846Epileptic drop attack1CTD_human
HgeneCCKC0338831Manic1PSYGENET
HgeneCCKC0422850Seizures, Somatosensory1CTD_human
HgeneCCKC0422852Seizures, Auditory1CTD_human
HgeneCCKC0422853Olfactory seizure1CTD_human
HgeneCCKC0422854Gustatory seizure1CTD_human
HgeneCCKC0422855Vertiginous seizure1CTD_human
HgeneCCKC0494475Tonic - clonic seizures1CTD_human
HgeneCCKC0525041Neurobehavioral Manifestations1CTD_human
HgeneCCKC0559031Functional Gastrointestinal Disorders1CTD_human
HgeneCCKC0564408Manic mood1PSYGENET
HgeneCCKC0751056Non-epileptic convulsion1CTD_human
HgeneCCKC0751088Dyskinesia, Medication-Induced1CTD_human
HgeneCCKC0751110Single Seizure1CTD_human
HgeneCCKC0751123Atonic Absence Seizures1CTD_human
HgeneCCKC0751494Convulsive Seizures1CTD_human
HgeneCCKC0751495Seizures, Focal1CTD_human
HgeneCCKC0751496Seizures, Sensory1CTD_human
HgeneCCKC1565321Cholera Infantum1CTD_human
HgeneCCKC3495874Nonepileptic Seizures1CTD_human
HgeneCCKC4048158Convulsions1CTD_human
HgeneCCKC4316903Absence Seizures1CTD_human
HgeneCCKC4317109Epileptic Seizures1CTD_human
HgeneCCKC4317123Myoclonic Seizures1CTD_human
HgeneCCKC4505436Generalized Absence Seizures1CTD_human
TgeneC0432243Spondyloepimetaphyseal Dysplasia With Joint Laxity2ORPHANET