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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:HABP2-CELA3B (FusionGDB2 ID:35413)

Fusion Gene Summary for HABP2-CELA3B

check button Fusion gene summary
Fusion gene informationFusion gene name: HABP2-CELA3B
Fusion gene ID: 35413
HgeneTgene
Gene symbol

HABP2

CELA3B

Gene ID

3026

23436

Gene namehyaluronan binding protein 2chymotrypsin like elastase 3B
SynonymsFSAP|HABP|HGFAL|NMTC5|PHBPCBPP|ELA3B
Cytomap

10q25.3

1p36.12

Type of geneprotein-codingprotein-coding
Descriptionhyaluronan-binding protein 2factor VII activating proteinfactor VII-activating proteasefactor seven-activating proteasehepatocyte growth factor activator-like proteinhyaluronic acid binding protein 2plasma hyaluronan binding proteinchymotrypsin-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 date2020031320200313
UniProtAcc

Q14520

P08861

Ensembl transtripts involved in fusion geneENST00000542051, ENST00000351270, 
ENST00000537906, ENST00000541666, 
ENST00000460714, 		ENST00000337107, 
ENST00000473526, 
Fusion gene scores* DoF score3 X 2 X 3=185 X 3 X 5=75
# samples 35
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: HABP2 [Title/Abstract] AND CELA3B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHABP2(115345697)-CELA3B(22313023), # 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
HgeneHABP2

GO:0006508

proteolysis

11217080


check buttonFusion gene breakpoints across HABP2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4Non-Cancer43NHABP2chr10

115345697

+CELA3Bchr1

22313023

+


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Fusion Gene ORF analysis for HABP2-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
In-frameENST00000542051ENST00000337107HABP2chr10

115345697

+CELA3Bchr1

22313023

+
5CDS-3UTRENST00000542051ENST00000473526HABP2chr10

115345697

+CELA3Bchr1

22313023

+
In-frameENST00000351270ENST00000337107HABP2chr10

115345697

+CELA3Bchr1

22313023

+
5CDS-3UTRENST00000351270ENST00000473526HABP2chr10

115345697

+CELA3Bchr1

22313023

+
intron-3CDSENST00000537906ENST00000337107HABP2chr10

115345697

+CELA3Bchr1

22313023

+
intron-3UTRENST00000537906ENST00000473526HABP2chr10

115345697

+CELA3Bchr1

22313023

+
intron-3CDSENST00000541666ENST00000337107HABP2chr10

115345697

+CELA3Bchr1

22313023

+
intron-3UTRENST00000541666ENST00000473526HABP2chr10

115345697

+CELA3Bchr1

22313023

+
intron-3CDSENST00000460714ENST00000337107HABP2chr10

115345697

+CELA3Bchr1

22313023

+
intron-3UTRENST00000460714ENST00000473526HABP2chr10

115345697

+CELA3Bchr1

22313023

+

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)
ENST00000542051HABP2chr10115345697+ENST00000337107CELA3Bchr122313023+18101574441744566
ENST00000351270HABP2chr10115345697+ENST00000337107CELA3Bchr122313023+18501614961784562

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
ENST00000542051ENST00000337107HABP2chr10115345697+CELA3Bchr122313023+0.0014873910.99851257
ENST00000351270ENST00000337107HABP2chr10115345697+CELA3Bchr122313023+0.0009832340.99901676

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Fusion Genomic Features for HABP2-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)
HABP2chr10115345697+CELA3Bchr122313023+0.0018433850.9981566
HABP2chr10115345697+CELA3Bchr122313023+0.0018433850.9981566

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.

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.

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Fusion Protein Features for HABP2-CELA3B


check button Go to

FGviewer for the breakpoints of chr10:115345697-chr1:22313023

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HABP2

Q14520

CELA3B

P08861

FUNCTION: Cleaves the alpha-chain at multiple sites and the beta-chain between 'Lys-53' and 'Lys-54' but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and does not cause the fibrinolysis directly. It does not cleave (activate) prothrombin and plasminogen but converts the inactive single chain urinary plasminogen activator (pro-urokinase) to the active two chain form. Activates coagulation factor VII (PubMed:8827452, PubMed:10754382, PubMed:11217080). May function as a tumor suppressor negatively regulating cell proliferation and cell migration (PubMed:26222560). {ECO:0000269|PubMed:10754382, ECO:0000269|PubMed:11217080, ECO:0000269|PubMed:26222560, ECO:0000269|PubMed:8827452}.FUNCTION: Efficient protease with alanine specificity but only little elastolytic activity.

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
HgeneHABP2chr10:115345697chr1:22313023ENST00000351270+1213111_148506.0561.0DomainEGF-like 2
HgeneHABP2chr10:115345697chr1:22313023ENST00000351270+1213150_188506.0561.0DomainEGF-like 3
HgeneHABP2chr10:115345697chr1:22313023ENST00000351270+1213193_276506.0561.0DomainKringle
HgeneHABP2chr10:115345697chr1:22313023ENST00000351270+121373_109506.0561.0DomainEGF-like 1
HgeneHABP2chr10:115345697chr1:22313023ENST00000542051+1213111_148480.0535.0DomainEGF-like 2
HgeneHABP2chr10:115345697chr1:22313023ENST00000542051+1213150_188480.0535.0DomainEGF-like 3
HgeneHABP2chr10:115345697chr1:22313023ENST00000542051+1213193_276480.0535.0DomainKringle
HgeneHABP2chr10:115345697chr1:22313023ENST00000542051+121373_109480.0535.0DomainEGF-like 1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHABP2chr10:115345697chr1:22313023ENST00000351270+1213314_555506.0561.0DomainPeptidase S1
HgeneHABP2chr10:115345697chr1:22313023ENST00000542051+1213314_555480.0535.0DomainPeptidase S1
TgeneCELA3Bchr10:115345697chr1:22313023ENST000003371075829_268214.0271.0DomainPeptidase S1


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Fusion Gene Sequence for HABP2-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.
>In-frame_ENST00000542051_ENST00000337107_43N_HABP2_chr10_115345697_+_CELA3B_chr1_22313023_length(transcript)=1810nt_BP=1574nt
CATAGAAACCACTAACGAAAATTAACTGTTTACTTTTTCACTGTCTGCCCATCTCCTCCTCAACCAGTTCACATCTGCCTCCTTCATCCC
CACATCACCAATGCCTGGCTCACAGCAGAGCTTCTTTCTCCCTGATGTCTTTATTGGAAAGCCTGGACCCAGACTGGACCCCTGACCAGT
ATGATTACAGCTACGAGGATTATAATCAGGAAGAGAACACCAGTAGCACACTTACCCACGCTGAGAATCCTGACTGGTACTACACTGAGG
ACCAAGCTGATCCATGCCAGCCCAACCCCTGTGAACACGGTGGGGACTGCCTCGTCCATGGGAGCACCTTCACATGCAGCTGCCTGGCTC
CTTTCTCTGGGAATAAGTGTCAGAAAGTGCAAAATACGTGCAAGGACAACCCATGTGGCCGGGGCCAATGTCTCATTACCCAGAGTCCTC
CCTACTACCGCTGTGTCTGTAAACACCCTTACACAGGTCCCAGCTGCTCCCAAGTGGTTCCTGTATGCAGGCCAAACCCCTGCCAGAATG
GGGCTACCTGCTCCCGGCATAAGCGGAGATCCAAGTTCACCTGTGCCTGTCCCGACCAGTTCAAGGGGAAATTCTGTGAAATAGGTTCTG
ATGACTGCTATGTTGGCGATGGCTACTCTTACCGAGGGAAAATGAATAGGACAGTCAACCAGCATGCGTGCCTTTACTGGAACTCCCACC
TCCTCTTGCAGGAGAATTACAACATGTTTATGGAGGATGCTGAAACCCATGGGATTGGGGAACACAATTTCTGCAGAAACCCAGATGCGG
ACGAAAAGCCCTGGTGCTTTATTAAAGTTACCAATGACAAGGTGAAATGGGAATACTGTGATGTCTCAGCCTGCTCAGCCCAGGACGTTG
CCTACCCAGAGGAAAGCCCCACTGAGCCATCAACCAAGCTTCCGGGGTTTGACTCCTGTGGAAAGACTGAGATAGCAGAGAGGAAGATCA
AGAGAATCTATGGAGGCTTTAAGAGCACGGCGGGCAAGCACCCATGGCAGGCGTCCCTCCAGTCCTCGCTGCCTCTGACCATCTCCATGC
CCCAGGGCCACTTCTGTGGTGGGGCGCTGATCCACCCCTGCTGGGTGCTCACTGCTGCCCACTGCACCGACATAAAAACCAGACATCTAA
AGGTGGTGCTAGGGGACCAGGACCTGAAGAAAGAAGAATTTCATGAGCAGAGCTTTAGGGTGGAGAAGATATTCAAGTACAGCCACTACA
ATGAAAGAGATGAGATTCCCCACAATGATATTGCATTGCTCAAGTTAAAGCCAGTGGATGGTCACTGTGCTCTAGAATCCAAATACGTGA
AGACTGTGTGCTTGCCTGATGGGTCCTTTCCCTCTGGGAGTGAGTGCCACATCTCTGGCTGGGGTGTTACAGAAACAGGAAAAGGGTCCC
GCCAGCTCCTGGATGCCAAAGTCAAGCTGATTGCCAACACTTTGTGCAACTCCCGCCAACTCTATGACCACATGATTGATGACAGTATGA
TCTGTGCAGGAAATCTTCAGAAACCTGGGCAAGACACCTGCCAGGGTGACTCTGGAGGACCCCTCAACTGCCCCACAGAGGATGGTGGCT
GGCAGGTCCATGGCGTGACCAGCTTTGTTTCTGCCTTTGGCTGCAACACCCGCAGGAAGCCCACGGTGTTCACTCGAGTCTCCGCCTTCA
TTGACTGGATTGAGGAGACCATAGCAAGCCACTAGAACCAAGGCCCAGCTGGCAGTGCTGATCGATCCCACATCCTGAATAAAGAATAAA

>In-frame_ENST00000542051_ENST00000337107_43N_HABP2_chr10_115345697_+_CELA3B_chr1_22313023_length(amino acids)=566AA_start in transcript=44_stop in transcript=1744
MPISSSTSSHLPPSSPHHQCLAHSRASFSLMSLLESLDPDWTPDQYDYSYEDYNQEENTSSTLTHAENPDWYYTEDQADPCQPNPCEHGG
DCLVHGSTFTCSCLAPFSGNKCQKVQNTCKDNPCGRGQCLITQSPPYYRCVCKHPYTGPSCSQVVPVCRPNPCQNGATCSRHKRRSKFTC
ACPDQFKGKFCEIGSDDCYVGDGYSYRGKMNRTVNQHACLYWNSHLLLQENYNMFMEDAETHGIGEHNFCRNPDADEKPWCFIKVTNDKV
KWEYCDVSACSAQDVAYPEESPTEPSTKLPGFDSCGKTEIAERKIKRIYGGFKSTAGKHPWQASLQSSLPLTISMPQGHFCGGALIHPCW
VLTAAHCTDIKTRHLKVVLGDQDLKKEEFHEQSFRVEKIFKYSHYNERDEIPHNDIALLKLKPVDGHCALESKYVKTVCLPDGSFPSGSE
CHISGWGVTETGKGSRQLLDAKVKLIANTLCNSRQLYDHMIDDSMICAGNLQKPGQDTCQGDSGGPLNCPTEDGGWQVHGVTSFVSAFGC

--------------------------------------------------------------
>In-frame_ENST00000351270_ENST00000337107_43N_HABP2_chr10_115345697_+_CELA3B_chr1_22313023_length(transcript)=1850nt_BP=1614nt
CCTGAATCCTTGGAGACTGACATTTTTCCCCCCTAAAGGCATAGACAACAAAAGAAATTTTATTGAGAGGAAAACACAAGTCCTTAAACT
GCAAAGATGTTTGCCAGGATGTCTGATCTCCATGTTCTGCTGTTAATGGCTCTGGTGGGAAAGACAGCCTGTGGGTTCTCCCTGATGTCT
TTATTGGAAAGCCTGGACCCAGACTGGACCCCTGACCAGTATGATTACAGCTACGAGGATTATAATCAGGAAGAGAACACCAGTAGCACA
CTTACCCACGCTGAGAATCCTGACTGGTACTACACTGAGGACCAAGCTGATCCATGCCAGCCCAACCCCTGTGAACACGGTGGGGACTGC
CTCGTCCATGGGAGCACCTTCACATGCAGCTGCCTGGCTCCTTTCTCTGGGAATAAGTGTCAGAAAGTGCAAAATACGTGCAAGGACAAC
CCATGTGGCCGGGGCCAATGTCTCATTACCCAGAGTCCTCCCTACTACCGCTGTGTCTGTAAACACCCTTACACAGGTCCCAGCTGCTCC
CAAGTGGTTCCTGTATGCAGGCCAAACCCCTGCCAGAATGGGGCTACCTGCTCCCGGCATAAGCGGAGATCCAAGTTCACCTGTGCCTGT
CCCGACCAGTTCAAGGGGAAATTCTGTGAAATAGGTTCTGATGACTGCTATGTTGGCGATGGCTACTCTTACCGAGGGAAAATGAATAGG
ACAGTCAACCAGCATGCGTGCCTTTACTGGAACTCCCACCTCCTCTTGCAGGAGAATTACAACATGTTTATGGAGGATGCTGAAACCCAT
GGGATTGGGGAACACAATTTCTGCAGAAACCCAGATGCGGACGAAAAGCCCTGGTGCTTTATTAAAGTTACCAATGACAAGGTGAAATGG
GAATACTGTGATGTCTCAGCCTGCTCAGCCCAGGACGTTGCCTACCCAGAGGAAAGCCCCACTGAGCCATCAACCAAGCTTCCGGGGTTT
GACTCCTGTGGAAAGACTGAGATAGCAGAGAGGAAGATCAAGAGAATCTATGGAGGCTTTAAGAGCACGGCGGGCAAGCACCCATGGCAG
GCGTCCCTCCAGTCCTCGCTGCCTCTGACCATCTCCATGCCCCAGGGCCACTTCTGTGGTGGGGCGCTGATCCACCCCTGCTGGGTGCTC
ACTGCTGCCCACTGCACCGACATAAAAACCAGACATCTAAAGGTGGTGCTAGGGGACCAGGACCTGAAGAAAGAAGAATTTCATGAGCAG
AGCTTTAGGGTGGAGAAGATATTCAAGTACAGCCACTACAATGAAAGAGATGAGATTCCCCACAATGATATTGCATTGCTCAAGTTAAAG
CCAGTGGATGGTCACTGTGCTCTAGAATCCAAATACGTGAAGACTGTGTGCTTGCCTGATGGGTCCTTTCCCTCTGGGAGTGAGTGCCAC
ATCTCTGGCTGGGGTGTTACAGAAACAGGAAAAGGGTCCCGCCAGCTCCTGGATGCCAAAGTCAAGCTGATTGCCAACACTTTGTGCAAC
TCCCGCCAACTCTATGACCACATGATTGATGACAGTATGATCTGTGCAGGAAATCTTCAGAAACCTGGGCAAGACACCTGCCAGGGTGAC
TCTGGAGGACCCCTCAACTGCCCCACAGAGGATGGTGGCTGGCAGGTCCATGGCGTGACCAGCTTTGTTTCTGCCTTTGGCTGCAACACC
CGCAGGAAGCCCACGGTGTTCACTCGAGTCTCCGCCTTCATTGACTGGATTGAGGAGACCATAGCAAGCCACTAGAACCAAGGCCCAGCT

>In-frame_ENST00000351270_ENST00000337107_43N_HABP2_chr10_115345697_+_CELA3B_chr1_22313023_length(amino acids)=562AA_start in transcript=96_stop in transcript=1784
MFARMSDLHVLLLMALVGKTACGFSLMSLLESLDPDWTPDQYDYSYEDYNQEENTSSTLTHAENPDWYYTEDQADPCQPNPCEHGGDCLV
HGSTFTCSCLAPFSGNKCQKVQNTCKDNPCGRGQCLITQSPPYYRCVCKHPYTGPSCSQVVPVCRPNPCQNGATCSRHKRRSKFTCACPD
QFKGKFCEIGSDDCYVGDGYSYRGKMNRTVNQHACLYWNSHLLLQENYNMFMEDAETHGIGEHNFCRNPDADEKPWCFIKVTNDKVKWEY
CDVSACSAQDVAYPEESPTEPSTKLPGFDSCGKTEIAERKIKRIYGGFKSTAGKHPWQASLQSSLPLTISMPQGHFCGGALIHPCWVLTA
AHCTDIKTRHLKVVLGDQDLKKEEFHEQSFRVEKIFKYSHYNERDEIPHNDIALLKLKPVDGHCALESKYVKTVCLPDGSFPSGSECHIS
GWGVTETGKGSRQLLDAKVKLIANTLCNSRQLYDHMIDDSMICAGNLQKPGQDTCQGDSGGPLNCPTEDGGWQVHGVTSFVSAFGCNTRR

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

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Fusion Gene PPI Analysis for HABP2-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


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 HABP2-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
HgeneHABP2Q14520DB08818Hyaluronic acidBinderSmall moleculeApproved|Vet_approved
HgeneHABP2Q14520DB08818Hyaluronic acidBinderSmall moleculeApproved|Vet_approved
HgeneHABP2Q14520DB08818Hyaluronic acidBinderSmall moleculeApproved|Vet_approved

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Related Diseases for HABP2-CELA3B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHABP2C4225292THYROID CANCER, NONMEDULLARY, 53CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneHABP2C0000786Spontaneous abortion1CTD_human
HgeneHABP2C0000822Abortion, Tubal1CTD_human
HgeneHABP2C3830362Early Pregnancy Loss1CTD_human
HgeneHABP2C4552766Miscarriage1CTD_human
TgeneCELA3BC0267963Exocrine pancreatic insufficiency1CTD_human