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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:KIAA0317-CELA3B (FusionGDB2 ID:HG9870TG23436)

Fusion Gene Summary for KIAA0317-CELA3B

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA0317-CELA3B
Fusion gene ID: hg9870tg23436
HgeneTgene
Gene symbol

KIAA0317

CELA3B

Gene ID

9870

23436

Gene nameapoptosis resistant E3 ubiquitin protein ligase 1chymotrypsin like elastase 3B
SynonymsFIEL1|KIAA0317CBPP|ELA3B
Cytomap('AREL1','KIAA0317')('CELA3B','CELA3B')

14q24.3

1p36.12

Type of geneprotein-codingprotein-coding
Descriptionapoptosis-resistant E3 ubiquitin protein ligase 1apoptosis-resistant HECT-type E3 ubiquitin transferase 1fibrosis-inducing E3 ligase 1chymotrypsin-like elastase family member 3Bcholesterol-binding pancreatic proteasechymotrypsin like elastase family member 3Belastase 3B, pancreaticelastase IIIBelastase-3Bfecal elastase 1pancreatic elastase 1pancreatic endopeptidase Eprotease E
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000356357, ENST00000557401, 
Fusion gene scores* DoF score7 X 9 X 3=1895 X 3 X 5=75
# samples 85
** MAII scorelog2(8/189*10)=-1.24031432933371
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA0317 [Title/Abstract] AND CELA3B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAREL1(75139534)-CELA3B(22304862), # samples:1
KIAA0317(75139534)-CELA3B(22304862), # samples:1
Anticipated loss of major functional domain due to fusion event.AREL1-CELA3B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
AREL1-CELA3B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
AREL1-CELA3B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
AREL1-CELA3B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneKIAA0317

GO:0006511

ubiquitin-dependent protein catabolic process

23479728

HgeneKIAA0317

GO:0043066

negative regulation of apoptotic process

23479728


check buttonFusion gene breakpoints across AREL1 (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 CELA3B (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
ChimerDB4PRADTCGA-YL-A8SC-01AKIAA0317chr14

75139534

-CELA3Bchr1

22304862

+
ChimerDB4PRADTCGA-YL-A8SCAREL1chr14

75139534

-CELA3Bchr1

22304862

+


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Fusion Gene ORF analysis for KIAA0317-CELA3B

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-intronENST00000356357ENST00000473526AREL1chr14

75139534

-CELA3Bchr1

22304862

+
5UTR-3CDSENST00000557401ENST00000337107AREL1chr14

75139534

-CELA3Bchr1

22304862

+
5UTR-intronENST00000557401ENST00000473526AREL1chr14

75139534

-CELA3Bchr1

22304862

+
In-frameENST00000356357ENST00000337107AREL1chr14

75139534

-CELA3Bchr1

22304862

+

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)
ENST00000356357AREL1chr1475139534-ENST00000337107CELA3Bchr122304862+277319385132102529

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
ENST00000356357ENST00000337107AREL1chr1475139534-CELA3Bchr122304862+0.0017757790.9982242

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Fusion Genomic Features for KIAA0317-CELA3B


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)
AREL1chr1475139533-CELA3Bchr122304861+6.39E-091
AREL1chr1475139533-CELA3Bchr122304861+6.39E-091

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

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for KIAA0317-CELA3B


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/:75139534/:22304862)
- 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
..
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: 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
HgeneAREL1chr14:75139534chr1:22304862ENST00000356357-112052_158474824.0RepeatNote=Filamin
TgeneCELA3Bchr14:75139534chr1:22304862ENST000003371070829_26814271.0DomainPeptidase S1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAREL1chr14:75139534chr1:22304862ENST00000356357-1120483_823474824.0DomainHECT


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Fusion Gene Sequence for KIAA0317-CELA3B


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.
>5780_5780_1_AREL1-CELA3B_AREL1_chr14_75139534_ENST00000356357_CELA3B_chr1_22304862_ENST00000337107_length(transcript)=2773nt_BP=1938nt
ATAGCCCGGAAGCGGAAACTCCTTGGGGAAAGGGCAATCCCCCGAGCCGGTTCCCAGGCCGGGTGGAGACCAACTCTGGGGTCTGTTGGT
GGGAGAGTGGGGAGCCCGTCTTCTGCTGAGTGCTGCCGCCCCTTCCCAGGACAGCGGAGGTGGAACTTCGTCGCGCTGCAACCCCCGGCT
CGGGATCCTGGGGCGTCCTTTGGCAGTCGATTGCACCCTGCACTAGAGAGAAGTCCAGGAATGATATATTCTTGGGCTGTATTTCTCTAC
CCTGGAGTTCATCCAGTTCATCCCAGAAACACTGACCTGATTACTGTGACAAAGTCTGATGGATAGACCCTTTCTGTTGACCTTGTGGCG
TTTTTCTTTCATGTGGAAGTTGGAAGACAAGGTGAAAGGGGCCAAAAGTTACCTGCTTTGGTGAATAGGAGTGCTCTACTTGGTTCTCAG
AACATGGGCCCTCGTTTAAAGCTGCAGCTGTGATCCTCGGCTGTCTGTTGGCATTGACGGGACCTGATGTTTTACGTTATTGGTGGAATC
ACAGTGTCTGTGGTTGCATTCTTCTTCACAATTAAGTTCCTCTTTGAGCTTGCCGCACGTGTAGTCAGCTTCCTCCAGAATGAGGACCGC
GAGCGCCGAGGGGACCGGACTATTTATGACTACGTGCGGGGAAATTACCTGGATCCCCGGTCTTGCAAAGTCTCCTGGGATTGGAAGGAC
CCCTATGAGGTGGGCCACAGCATGGCCTTCCGAGTGCATTTATTCTATAAGAACGGGCAGCCTTTCCCTGCACATCGGCCTGTGGGACTA
AGAGTTCACATCTCTCATGTCGAGCTAGCAGTGGAAATTCCAGTGACCCAGGAAGTCCTTCAGGAGCCCAATTCCAACGTAGTAAAAGTG
GCCTTCACTGTGCGCAAGGCTGGGCGTTATGAAATCACAGTGAAGCTTGGTGGATTAAATGTGGCATATAGTCCCTACTACAAAATTTTT
CAACCTGGAATGGTGGTTCCTTCTAAGACCAAAATTGTGTGCCACTTTTCTACTCTTGTATTGACCTGTGGGCAGCCGCACACCCTTCAA
ATAGTACCCCGAGATGAGTATGATAATCCCACCAACAATTCCATGTCCTTGAGAGATGAGCACAATTACACCTTGTCCATTCATGAGCTC
GGCCCTCAAGAAGAAGAGAGTACTGGTGTCTCATTTGAGAAATCAGTAACATCCAACAGGCAGACTTTCCAGGTGTTCTTGCGACTCACC
CTGCATTCTCGAGGCTGCTTCCATGCTTGCATTTCATACCAAAATCAGCCAATCAATAATGGTGAATTTGACATTATTGTCCTAAGTGAG
GATGAGAAGAATATCGTCGAACGCAATGTGTCCACTTCAGGCGTGAGCATTTACTTTGAGGCTTATCTTTATAATGCTACCAACTGTAGC
AGCACTCCATGGCACCTGCCACCCATGCACATGACCTCTTCCCAGCGCCGGCCATCCACTGCTGTTGACGAGGAAGATGAAGACTCGCCC
TCTGAGTGCCACACCCCTGAGAAGGTGAAGAAACCGAAGAAGGTGTACTGCTATGTGTCACCAAAGCAATTCTCAGTGAAGGAGTTCTAC
CTGAAGATCATCCCCTGGCGCCTTTACACCTTCCGAGTGTGTCCAGGAACAAAATTTTCATACCTTGGTCCTGACCCTGTCCATAAGCTG
CTCACACTGGTGGTGGATGATGGCATTCAACCTCCTGTGGAGCTCAGCTGTAAGGAGAGGAACATTCTAGCAGCCACTTTTATCCGCTCC
CTGCATAAGAACATAGGAGGCTCTGAGACCTTTCAGGACAAGGTGAACTTTTTCCAGCGAGAGCTTCGGCAGGTACATATGAAAAGACCA
CATTCCAAAGTCACCCTGAAGGTCAGCAGACATGCCTTGTTGGAATCGCCTCAGGCTATGGCCCACCTTCCTCTCGCCCTTCCAGCCGCG
TTGTCAATGGTGAGGATGCGGTCCCCTACAGCTGGCCCTGGCAGGTTTCCCTGCAGTATGAGAAAAGCGGAAGCTTCTACCACACCTGTG
GCGGTAGCCTCATCGCCCCCGACTGGGTTGTGACTGCCGGCCACTGCATCTCGAGCTCCCGGACCTACCAGGTGGTGTTGGGCGAGTACG
ACCGTGCTGTGAAGGAGGGCCCCGAGCAGGTGATCCCCATCAACTCTGGGGACCTCTTTGTGCATCCACTCTGGAACCGCTCGTGTGTGG
CCTGTGGCAATGACATCGCCCTCATCAAGCTCTCACGCAGCGCCCAGCTGGGAGACGCCGTCCAGCTCGCCTCACTCCCTCCGGCTGGTG
ACATCCTTCCCAACGAGACACCCTGCTACATCACCGGCTGGGGCCGTCTCTATACCAACGGGCCACTCCCAGACAAGCTGCAGGAGGCCC
TGCTGCCGGTGGTGGACTATGAACACTGCTCCAGGTGGAACTGGTGGGGTTCCTCCGTGAAGAAGACCATGGTGTGTGCTGGAGGGGACA
TCCGCTCCGGCTGCAATGGTGACTCTGGAGGACCCCTCAACTGCCCCACAGAGGATGGTGGCTGGCAGGTCCATGGCGTGACCAGCTTTG
TTTCTGCCTTTGGCTGCAACACCCGCAGGAAGCCCACGGTGTTCACTCGAGTCTCCGCCTTCATTGACTGGATTGAGGAGACCATAGCAA

>5780_5780_1_AREL1-CELA3B_AREL1_chr14_75139534_ENST00000356357_CELA3B_chr1_22304862_ENST00000337107_length(amino acids)=529AA_BP=475
MMFYVIGGITVSVVAFFFTIKFLFELAARVVSFLQNEDRERRGDRTIYDYVRGNYLDPRSCKVSWDWKDPYEVGHSMAFRVHLFYKNGQP
FPAHRPVGLRVHISHVELAVEIPVTQEVLQEPNSNVVKVAFTVRKAGRYEITVKLGGLNVAYSPYYKIFQPGMVVPSKTKIVCHFSTLVL
TCGQPHTLQIVPRDEYDNPTNNSMSLRDEHNYTLSIHELGPQEEESTGVSFEKSVTSNRQTFQVFLRLTLHSRGCFHACISYQNQPINNG
EFDIIVLSEDEKNIVERNVSTSGVSIYFEAYLYNATNCSSTPWHLPPMHMTSSQRRPSTAVDEEDEDSPSECHTPEKVKKPKKVYCYVSP
KQFSVKEFYLKIIPWRLYTFRVCPGTKFSYLGPDPVHKLLTLVVDDGIQPPVELSCKERNILAATFIRSLHKNIGGSETFQDKVNFFQRE

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

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Fusion Gene PPI Analysis for KIAA0317-CELA3B


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
HgeneAREL1chr14:75139534chr1:22304862ENST00000356357-1120483_789474.0824.0SOCS2


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 KIAA0317-CELA3B


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 KIAA0317-CELA3B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0267963Exocrine pancreatic insufficiency1CTD_human