Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
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:BAIAP2L1-HSD17B14 (FusionGDB2 ID:HG55971TG51171)

Fusion Gene Summary for BAIAP2L1-HSD17B14

check button Fusion gene summary
Fusion gene informationFusion gene name: BAIAP2L1-HSD17B14
Fusion gene ID: hg55971tg51171
HgeneTgene
Gene symbol

BAIAP2L1

HSD17B14

Gene ID

55971

51171

Gene nameBAR/IMD domain containing adaptor protein 2 like 1hydroxysteroid 17-beta dehydrogenase 14
SynonymsIRTKSDHRS10|SDR47C1|retSDR3
Cytomap('BAIAP2L1')('HSD17B14')

7q21.3-q22.1

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionbrain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1BAI1 associated protein 2 like 1BAI1-associated protein 2-like protein 1insulin receptor tyrosine kinase substrate17-beta-hydroxysteroid dehydrogenase 1417-beta-HSD 1417-beta-hydroxysteroid dehydrogenase DHRS10dehydrogenase/reductase (SDR family) member 10retinal short-chain dehydrogenase/reductase 3retinal short-chain dehydrogenase/reductase retSDR3short chain
Modification date2020031320200327
UniProtAcc

Q9UHR4

.
Ensembl transtripts involved in fusion geneENST00000462558, ENST00000005260, 
Fusion gene scores* DoF score20 X 13 X 9=234010 X 3 X 7=210
# samples 239
** MAII scorelog2(23/2340*10)=-3.34680276352639
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/210*10)=-1.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BAIAP2L1 [Title/Abstract] AND HSD17B14 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBAIAP2L1(98030114)-HSD17B14(49318398), # samples:1
Anticipated loss of major functional domain due to fusion event.BAIAP2L1-HSD17B14 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.
BAIAP2L1-HSD17B14 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
HgeneBAIAP2L1

GO:0009617

response to bacterium

19366662

HgeneBAIAP2L1

GO:0030838

positive regulation of actin filament polymerization

21098279

TgeneHSD17B14

GO:0006706

steroid catabolic process

17067289


check buttonFusion gene breakpoints across BAIAP2L1 (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 HSD17B14 (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-CD-8527-01ABAIAP2L1chr7

98030114

-HSD17B14chr19

49318398

-


Top

Fusion Gene ORF analysis for BAIAP2L1-HSD17B14

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
5UTR-3CDSENST00000462558ENST00000263278BAIAP2L1chr7

98030114

-HSD17B14chr19

49318398

-
5UTR-3CDSENST00000462558ENST00000599157BAIAP2L1chr7

98030114

-HSD17B14chr19

49318398

-
In-frameENST00000005260ENST00000263278BAIAP2L1chr7

98030114

-HSD17B14chr19

49318398

-
In-frameENST00000005260ENST00000599157BAIAP2L1chr7

98030114

-HSD17B14chr19

49318398

-

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)
ENST00000005260BAIAP2L1chr798030114-ENST00000263278HSD17B14chr1949318398-86926733710225
ENST00000005260BAIAP2L1chr798030114-ENST00000599157HSD17B14chr1949318398-86226733710225

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
ENST00000005260ENST00000263278BAIAP2L1chr798030114-HSD17B14chr1949318398-0.0041858460.99581414
ENST00000005260ENST00000599157BAIAP2L1chr798030114-HSD17B14chr1949318398-0.0044137180.9955863

Top

Fusion Genomic Features for BAIAP2L1-HSD17B14


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

Top

Fusion Protein Features for BAIAP2L1-HSD17B14


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/chr7:98030114/chr19:49318398)
- 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
BAIAP2L1

Q9UHR4

.
FUNCTION: May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. {ECO:0000269|PubMed:17430976, ECO:0000269|PubMed:19366662, ECO:0000269|PubMed:22921828}.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
HgeneBAIAP2L1chr7:98030114chr19:49318398ENST00000005260-114115_15417512.0Coiled coilOntology_term=ECO:0000255
HgeneBAIAP2L1chr7:98030114chr19:49318398ENST00000005260-1141_24917512.0DomainIMD
HgeneBAIAP2L1chr7:98030114chr19:49318398ENST00000005260-114339_40217512.0DomainSH3
HgeneBAIAP2L1chr7:98030114chr19:49318398ENST00000005260-114483_51117512.0RegionNote=Binds F-actin
TgeneHSD17B14chr7:98030114chr19:49318398ENST000002632784913_40123271.0Nucleotide bindingNAD


Top

Fusion Gene Sequence for BAIAP2L1-HSD17B14


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.
>8919_8919_1_BAIAP2L1-HSD17B14_BAIAP2L1_chr7_98030114_ENST00000005260_HSD17B14_chr19_49318398_ENST00000263278_length(transcript)=869nt_BP=267nt
CTCCTCTGCTCCTCGAAGAAGGCCAGGGCGGCGCTGCCGCAAGTTTTGACATTTTCGCAGCGGAGACGCGCGCGGGCACTCTCGGGCCGA
CGGCTGCGGCGGCGGCCGACCCTCCAGAGCCCCTTAGTCGCGCCCCGGCCCTCCCGCTGCCCGGAGTCCGGCGGCCACGAGGCCCAGCCG
CGTCCTCCCGCGCTTGCTCGCCCGGCGGCCGCAGCCATGTCCCGGGGGCCCGAGGAGGTGAACCGGCTCACGGAGAGCACCTACCGGCTC
GCCCTCCCCTACCTGCGGAAGAGTCAAGGGAATGTCATCAACATCTCCAGCCTGGTGGGGGCAATCGGCCAGGCCCAGGCAGTTCCCTAT
GTGGCCACCAAGGGGGCAGTAACAGCCATGACCAAAGCTTTGGCCCTGGATGAAAGTCCATATGGTGTCCGAGTCAACTGTATCTCCCCA
GGAAACATCTGGACCCCGCTGTGGGAGGAGCTGGCAGCCTTAATGCCAGACCCTAGGGCCACAATCCGAGAGGGCATGCTGGCCCAGCCA
CTGGGCCGCATGGGCCAGCCCGCTGAGGTCGGGGCTGCGGCAGTGTTCCTGGCCTCCGAAGCCAACTTCTGCACGGGCATTGAACTGCTC
GTGACGGGGGGTGCAGAGCTGGGGTACGGGTGCAAGGCCAGTCGGAGCACCCCCGTGGACGCCCCCGATATCCCTTCCTGATTTCTCTCA
TTTCTACTTGGGGCCCCCTTCCTAGGACTCTCCCACCCCAAACTCCAACCTGTATCAGATGCAGCCCCCAAGCCCTTAGACTCTAAGCCC

>8919_8919_1_BAIAP2L1-HSD17B14_BAIAP2L1_chr7_98030114_ENST00000005260_HSD17B14_chr19_49318398_ENST00000263278_length(amino acids)=225AA_BP=78
MPQVLTFSQRRRARALSGRRLRRRPTLQSPLVAPRPSRCPESGGHEAQPRPPALARPAAAAMSRGPEEVNRLTESTYRLALPYLRKSQGN
VINISSLVGAIGQAQAVPYVATKGAVTAMTKALALDESPYGVRVNCISPGNIWTPLWEELAALMPDPRATIREGMLAQPLGRMGQPAEVG

--------------------------------------------------------------
>8919_8919_2_BAIAP2L1-HSD17B14_BAIAP2L1_chr7_98030114_ENST00000005260_HSD17B14_chr19_49318398_ENST00000599157_length(transcript)=862nt_BP=267nt
CTCCTCTGCTCCTCGAAGAAGGCCAGGGCGGCGCTGCCGCAAGTTTTGACATTTTCGCAGCGGAGACGCGCGCGGGCACTCTCGGGCCGA
CGGCTGCGGCGGCGGCCGACCCTCCAGAGCCCCTTAGTCGCGCCCCGGCCCTCCCGCTGCCCGGAGTCCGGCGGCCACGAGGCCCAGCCG
CGTCCTCCCGCGCTTGCTCGCCCGGCGGCCGCAGCCATGTCCCGGGGGCCCGAGGAGGTGAACCGGCTCACGGAGAGCACCTACCGGCTC
GCCCTCCCCTACCTGCGGAAGAGTCAAGGGAATGTCATCAACATCTCCAGCCTGGTGGGGGCAATCGGCCAGGCCCAGGCAGTTCCCTAT
GTGGCCACCAAGGGGGCAGTAACAGCCATGACCAAAGCTTTGGCCCTGGATGAAAGTCCATATGGTGTCCGAGTCAACTGTATCTCCCCA
GGAAACATCTGGACCCCGCTGTGGGAGGAGCTGGCAGCCTTAATGCCAGACCCTAGGGCCACAATCCGAGAGGGCATGCTGGCCCAGCCA
CTGGGCCGCATGGGCCAGCCCGCTGAGGTCGGGGCTGCGGCAGTGTTCCTGGCCTCCGAAGCCAACTTCTGCACGGGCATTGAACTGCTC
GTGACGGGGGGTGCAGAGCTGGGGTACGGGTGCAAGGCCAGTCGGAGCACCCCCGTGGACGCCCCCGATATCCCTTCCTGATTTCTCTCA
TTTCTACTTGGGGCCCCCTTCCTAGGACTCTCCCACCCCAAACTCCAACCTGTATCAGATGCAGCCCCCAAGCCCTTAGACTCTAAGCCC

>8919_8919_2_BAIAP2L1-HSD17B14_BAIAP2L1_chr7_98030114_ENST00000005260_HSD17B14_chr19_49318398_ENST00000599157_length(amino acids)=225AA_BP=78
MPQVLTFSQRRRARALSGRRLRRRPTLQSPLVAPRPSRCPESGGHEAQPRPPALARPAAAAMSRGPEEVNRLTESTYRLALPYLRKSQGN
VINISSLVGAIGQAQAVPYVATKGAVTAMTKALALDESPYGVRVNCISPGNIWTPLWEELAALMPDPRATIREGMLAQPLGRMGQPAEVG

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

Top

Fusion Gene PPI Analysis for BAIAP2L1-HSD17B14


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 BAIAP2L1-HSD17B14


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 BAIAP2L1-HSD17B14


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBAIAP2L1C0003873Rheumatoid Arthritis1CTD_human