FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:BTBD1-HDGFRP3 (FusionGDB2 ID:10444)

Fusion Gene Summary for BTBD1-HDGFRP3

check button Fusion gene summary
Fusion gene informationFusion gene name: BTBD1-HDGFRP3
Fusion gene ID: 10444
HgeneTgene
Gene symbol

BTBD1

HDGFRP3

Gene ID

53339

50810

Gene nameBTB domain containing 1HDGF like 3
SynonymsC15orf1|NS5ATP8CGI-142|HDGF-2|HDGF2|HDGFRP3|HRP-3
Cytomap

15q25.2

15q25.2

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein 1BTB (POZ) domain containing 1HCV NS5A-transactivated protein 8hepatitis C virus NS5A-transactivated protein 8hepatoma-derived growth factor-related protein 3hepatoma-derived growth factor 2hepatoma-derived growth factor, related protein 3
Modification date2020032720200313
UniProtAcc

Q9H0C5

.
Ensembl transtripts involved in fusion geneENST00000261721, ENST00000379403, 
ENST00000560015, 
ENST00000299633, 
Fusion gene scores* DoF score11 X 9 X 9=8913 X 1 X 3=9
# samples 133
** MAII scorelog2(13/891*10)=-2.77691380849347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BTBD1 [Title/Abstract] AND HDGFRP3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBTBD1(83725141)-HDGFRP3(83832827), # 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

check buttonFusion gene breakpoints across BTBD1 (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 HDGFRP3 (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 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
ChimerDB4GBMTCGA-14-1829-01ABTBD1chr15

83725141

-HDGFRP3chr15

83832827

-


Top

Fusion Gene ORF analysis for BTBD1-HDGFRP3

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-frameENST00000261721ENST00000299633BTBD1chr15

83725141

-HDGFRP3chr15

83832827

-
In-frameENST00000379403ENST00000299633BTBD1chr15

83725141

-HDGFRP3chr15

83832827

-
intron-3CDSENST00000560015ENST00000299633BTBD1chr15

83725141

-HDGFRP3chr15

83832827

-

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)
ENST00000261721BTBD1chr1583725141-ENST00000299633HDGFRP3chr1583832827-24957612031288361
ENST00000379403BTBD1chr1583725141-ENST00000299633HDGFRP3chr1583832827-229255801085361

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
ENST00000261721ENST00000299633BTBD1chr1583725141-HDGFRP3chr1583832827-0.0002208950.99977916
ENST00000379403ENST00000299633BTBD1chr1583725141-HDGFRP3chr1583832827-0.0001975070.99980253

Top

Fusion Genomic Features for BTBD1-HDGFRP3


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

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.

Top

Fusion Protein Features for BTBD1-HDGFRP3


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/chr15:83725141/chr15:83832827)
- 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
BTBD1

Q9H0C5

.
FUNCTION: Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312). Seems to regulate expression levels and/or subnuclear distribution of TOP1, via an unknown mechanism (By similarity). May play a role in mesenchymal differentiation where it promotes myogenic differentiation and suppresses adipogenesis (By similarity). {ECO:0000250|UniProtKB:P58544, ECO:0000269|PubMed:14528312}.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
HgeneBTBD1chr15:83725141chr15:83832827ENST00000261721-2825_31186483.0Compositional biasPoly-Pro
HgeneBTBD1chr15:83725141chr15:83832827ENST00000379403-2725_31186337.3333333333333Compositional biasPoly-Pro
HgeneBTBD1chr15:83725141chr15:83832827ENST00000261721-2869_145186483.0DomainBTB
HgeneBTBD1chr15:83725141chr15:83832827ENST00000379403-2769_145186337.3333333333333DomainBTB
TgeneHDGFRP3chr15:83725141chr15:83832827ENST0000029963306136_14828204.0MotifNuclear localization signal

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBTBD1chr15:83725141chr15:83832827ENST00000261721-28184_284186483.0DomainBACK
HgeneBTBD1chr15:83725141chr15:83832827ENST00000379403-27184_284186337.3333333333333DomainBACK
TgeneHDGFRP3chr15:83725141chr15:83832827ENST000002996330611_6828204.0DomainPWWP


Top

Fusion Gene Sequence for BTBD1-HDGFRP3


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.
>10444_10444_1_BTBD1-HDGFRP3_BTBD1_chr15_83725141_ENST00000261721_HDGFRP3_chr15_83832827_ENST00000299633_length(transcript)=2495nt_BP=761nt
AGTCCTGTTACACCTCCCGCGGCCGCGCACAGCGGCAACCCGGGCGTGCGGGGGCGCGCGCGGTCAGGGAGGGGCCTGCGGAGGCGCGAG
GCCCCCGGAAGCGCCTTTCCCGGAAGGCAGGGAGGCAGCGCCGGCCTCCGGAGGCGGCCTGGGCGATGGCGGCGGAGTTTTGTCCATAAC
GTGGGCAACCGCGCAGCTGGAGGATGGCCTCACTCGGGCCTGCCGCAGCTGGGGAGCAGGCGTCGGGGGCTGAGGCGGAGCCGGGCCCCG
CGGGGCCGCCGCCGCCGCCCTCACCGTCCTCTCTGGGGCCCCTGCTCCCCCTGCAGCGGGAACCTCTCTACAACTGGCAGGCGACCAAGG
CGTCGCTGAAGGAGCGCTTCGCCTTCCTCTTCAACTCGGAGCTGCTGAGCGATGTGCGCTTCGTACTGGGCAAGGGTCGCGGCGCCGCCG
CCGCTGGGGGCCCGCAGCGCATCCCCGCCCACCGCTTCGTGCTGGCGGCCGGCAGCGCCGTCTTTGACGCCATGTTCAACGGCGGCATGG
CCACCACGTCGGCCGAGATCGAGCTGCCGGACGTGGAGCCCGCAGCCTTCCTGGCGCTGCTGAGATTTCTATATTCAGATGAAGTTCAAA
TTGGTCCAGAAACAGTTATGACCACTCTTTATACTGCCAAGAAATACGCAGTCCCAGCCTTGGAAGCACACTGTGTAGAATTTCTCACCA
AACATCTTAGGGCAGATAATGCCTTTATGTTACTTACTCAGATTGATGAACTCCCAGAGGGCGCTGTGAAGCCTCCAGCAAACAAGTATC
CTATCTTCTTTTTTGGCACCCATGAAACTGCATTTCTAGGTCCCAAAGACCTTTTTCCATATAAGGAGTACAAAGACAAGTTTGGAAAGT
CAAACAAACGGAAAGGATTTAACGAAGGATTGTGGGAAATAGAAAATAACCCAGGAGTAAAGTTTACTGGCTACCAGGCAATTCAGCAAC
AGAGCTCTTCAGAAACTGAGGGAGAAGGTGGAAATACTGCAGATGCAAGCAGTGAGGAAGAAGGTGATAGAGTAGAAGAAGATGGAAAAG
GCAAAAGAAAGAATGAAAAAGCAGGCTCAAAACGGAAAAAGTCATATACTTCAAAGAAATCCTCTAAACAGTCCCGGAAATCTCCAGGAG
ATGAAGATGACAAAGACTGCAAAGAAGAGGAAAACAAAAGCAGCTCTGAGGGTGGAGATGCGGGCAACGACACAAGAAACACAACTTCAG
ACTTGCAGAAAACCAGTGAAGGGACCTAACTACCATAATGAATGCTGCATATTAAGAGAAACCACAAGAAGGTTATATGTTTGGTTGTCT
AATATTCTTGGATTTGATATGAACCAACACATAGTCCTTGTTGTCATTGACAGAACCCCAGTTTGTATGTACATTATTCATATTCCTCTC
TGTTGTGTTTCGGGGGGAAAAGACATTTTAGCCTTTTTTAAAAGTTACTGATTTAATTTCATGTTATTTGGTTGCATGAAGTTGCCCTTA
ACCACTAAGGATTATCAAGATTTTTGCGCAGACTTATACATGTCTAGGATCCTTTTATCAAGGCAGTTATGATCATCGTTTTCCTGCCTT
GACCCCACCATCATCAAACACTCAGTTAAATATAAATTAACATTTTTTAGATGACCACTCAACATAATGCTTAAGAATGGAATTTCCTCT
CTGTGACAGAACCCAGGAATTAATTCCTAAATACATAACGTTGGTATATTGAAGACGAAATTAAAATTGTCCTTCAGTTTTGAGGCCATG
TGTAAAGTTTAACCATATTGTAAAATATCTATTCCGTATTAGAAATAGCTAGTTGACAGCTTATACTTCTCAAAATTCATATTGTTATGT
ACACAAACTAAGTTTCTATATGTGAAGTTAGTGAGTCTTTTTGTGTTACTCCAAAATAAAGGCAATGATTTATTTTTTTCCCAGTGCCAA
TACAATTTTGAGCTAAGCACTCAAGGTGGATACTTTACATTTTAAAGCTGGAATCAGCAACAGCCCTATGGGAAACCAGACAAAGCATTG
ACTTTTAAATGTAGACTTTTAAAATAAACTGTTTTCTTTTGGAACTACAATTAGAATAGTTAATATTCATCCTTAAACCATTATTATGTG
TACATTATTGTTGCTATTGTGATAATAGAGAATTTTATTTATTTTTATGCCAGCTTATATTGTGAGAACACATTTAGTCAGTTTGGGTTT
TATCAATCCTGTTAATGCTTGTCCTTGGAACATCTTTCGCGTATTCACGGTTTGTAGTTGAAAAGTTTACTGTAAAAAAATCAAAAACAA
AAAAATGTATTGTTTTTACAGAATAAATTTATTGGAATGTGTACTGGGAGTAAGATTTGAGGTTGTAAGCAAACTAAGTTAGTGTAATTT

>10444_10444_1_BTBD1-HDGFRP3_BTBD1_chr15_83725141_ENST00000261721_HDGFRP3_chr15_83832827_ENST00000299633_length(amino acids)=361AA_BP=181
MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREPLYNWQATKASLKERFAFLFNSELLSDVRFVLGKGRGAAAAGGPQRI
PAHRFVLAAGSAVFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMTTLYTAKKYAVPALEAHCVEFLTKHLRADNA
FMLLTQIDELPEGAVKPPANKYPIFFFGTHETAFLGPKDLFPYKEYKDKFGKSNKRKGFNEGLWEIENNPGVKFTGYQAIQQQSSSETEG
EGGNTADASSEEEGDRVEEDGKGKRKNEKAGSKRKKSYTSKKSSKQSRKSPGDEDDKDCKEEENKSSSEGGDAGNDTRNTTSDLQKTSEG

--------------------------------------------------------------
>10444_10444_2_BTBD1-HDGFRP3_BTBD1_chr15_83725141_ENST00000379403_HDGFRP3_chr15_83832827_ENST00000299633_length(transcript)=2292nt_BP=558nt
ATGGCCTCACTCGGGCCTGCCGCAGCTGGGGAGCAGGCGTCGGGGGCTGAGGCGGAGCCGGGCCCCGCGGGGCCGCCGCCGCCGCCCTCA
CCGTCCTCTCTGGGGCCCCTGCTCCCCCTGCAGCGGGAACCTCTCTACAACTGGCAGGCGACCAAGGCGTCGCTGAAGGAGCGCTTCGCC
TTCCTCTTCAACTCGGAGCTGCTGAGCGATGTGCGCTTCGTACTGGGCAAGGGTCGCGGCGCCGCCGCCGCTGGGGGCCCGCAGCGCATC
CCCGCCCACCGCTTCGTGCTGGCGGCCGGCAGCGCCGTCTTTGACGCCATGTTCAACGGCGGCATGGCCACCACGTCGGCCGAGATCGAG
CTGCCGGACGTGGAGCCCGCAGCCTTCCTGGCGCTGCTGAGATTTCTATATTCAGATGAAGTTCAAATTGGTCCAGAAACAGTTATGACC
ACTCTTTATACTGCCAAGAAATACGCAGTCCCAGCCTTGGAAGCACACTGTGTAGAATTTCTCACCAAACATCTTAGGGCAGATAATGCC
TTTATGTTACTTACTCAGATTGATGAACTCCCAGAGGGCGCTGTGAAGCCTCCAGCAAACAAGTATCCTATCTTCTTTTTTGGCACCCAT
GAAACTGCATTTCTAGGTCCCAAAGACCTTTTTCCATATAAGGAGTACAAAGACAAGTTTGGAAAGTCAAACAAACGGAAAGGATTTAAC
GAAGGATTGTGGGAAATAGAAAATAACCCAGGAGTAAAGTTTACTGGCTACCAGGCAATTCAGCAACAGAGCTCTTCAGAAACTGAGGGA
GAAGGTGGAAATACTGCAGATGCAAGCAGTGAGGAAGAAGGTGATAGAGTAGAAGAAGATGGAAAAGGCAAAAGAAAGAATGAAAAAGCA
GGCTCAAAACGGAAAAAGTCATATACTTCAAAGAAATCCTCTAAACAGTCCCGGAAATCTCCAGGAGATGAAGATGACAAAGACTGCAAA
GAAGAGGAAAACAAAAGCAGCTCTGAGGGTGGAGATGCGGGCAACGACACAAGAAACACAACTTCAGACTTGCAGAAAACCAGTGAAGGG
ACCTAACTACCATAATGAATGCTGCATATTAAGAGAAACCACAAGAAGGTTATATGTTTGGTTGTCTAATATTCTTGGATTTGATATGAA
CCAACACATAGTCCTTGTTGTCATTGACAGAACCCCAGTTTGTATGTACATTATTCATATTCCTCTCTGTTGTGTTTCGGGGGGAAAAGA
CATTTTAGCCTTTTTTAAAAGTTACTGATTTAATTTCATGTTATTTGGTTGCATGAAGTTGCCCTTAACCACTAAGGATTATCAAGATTT
TTGCGCAGACTTATACATGTCTAGGATCCTTTTATCAAGGCAGTTATGATCATCGTTTTCCTGCCTTGACCCCACCATCATCAAACACTC
AGTTAAATATAAATTAACATTTTTTAGATGACCACTCAACATAATGCTTAAGAATGGAATTTCCTCTCTGTGACAGAACCCAGGAATTAA
TTCCTAAATACATAACGTTGGTATATTGAAGACGAAATTAAAATTGTCCTTCAGTTTTGAGGCCATGTGTAAAGTTTAACCATATTGTAA
AATATCTATTCCGTATTAGAAATAGCTAGTTGACAGCTTATACTTCTCAAAATTCATATTGTTATGTACACAAACTAAGTTTCTATATGT
GAAGTTAGTGAGTCTTTTTGTGTTACTCCAAAATAAAGGCAATGATTTATTTTTTTCCCAGTGCCAATACAATTTTGAGCTAAGCACTCA
AGGTGGATACTTTACATTTTAAAGCTGGAATCAGCAACAGCCCTATGGGAAACCAGACAAAGCATTGACTTTTAAATGTAGACTTTTAAA
ATAAACTGTTTTCTTTTGGAACTACAATTAGAATAGTTAATATTCATCCTTAAACCATTATTATGTGTACATTATTGTTGCTATTGTGAT
AATAGAGAATTTTATTTATTTTTATGCCAGCTTATATTGTGAGAACACATTTAGTCAGTTTGGGTTTTATCAATCCTGTTAATGCTTGTC
CTTGGAACATCTTTCGCGTATTCACGGTTTGTAGTTGAAAAGTTTACTGTAAAAAAATCAAAAACAAAAAAATGTATTGTTTTTACAGAA
TAAATTTATTGGAATGTGTACTGGGAGTAAGATTTGAGGTTGTAAGCAAACTAAGTTAGTGTAATTTGGCTTCATATATGTAACGTGAGG

>10444_10444_2_BTBD1-HDGFRP3_BTBD1_chr15_83725141_ENST00000379403_HDGFRP3_chr15_83832827_ENST00000299633_length(amino acids)=361AA_BP=181
MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREPLYNWQATKASLKERFAFLFNSELLSDVRFVLGKGRGAAAAGGPQRI
PAHRFVLAAGSAVFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMTTLYTAKKYAVPALEAHCVEFLTKHLRADNA
FMLLTQIDELPEGAVKPPANKYPIFFFGTHETAFLGPKDLFPYKEYKDKFGKSNKRKGFNEGLWEIENNPGVKFTGYQAIQQQSSSETEG
EGGNTADASSEEEGDRVEEDGKGKRKNEKAGSKRKKSYTSKKSSKQSRKSPGDEDDKDCKEEENKSSSEGGDAGNDTRNTTSDLQKTSEG

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

Top

Fusion Gene PPI Analysis for BTBD1-HDGFRP3


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


Top

Related Drugs for BTBD1-HDGFRP3


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

Top

Related Diseases for BTBD1-HDGFRP3


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