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:BLM-ABHD2 (FusionGDB2 ID:HG641TG11057)

Fusion Gene Summary for BLM-ABHD2

check button Fusion gene summary
Fusion gene informationFusion gene name: BLM-ABHD2
Fusion gene ID: hg641tg11057
HgeneTgene
Gene symbol

BLM

ABHD2

Gene ID

641

11057

Gene nameBLM RecQ like helicaseabhydrolase domain containing 2, acylglycerol lipase
SynonymsBS|MGRISCE1|RECQ2|RECQL2|RECQL3HS1-2|LABH2|PHPS1-2
Cytomap('BLM')('ABHD2')

15q26.1

15q26.1

Type of geneprotein-codingprotein-coding
DescriptionBloom syndrome proteinBloom syndrome RecQ like helicaseBloom syndrome, RecQ helicase-likeDNA helicase, RecQ-like type 2recQ protein-like 3monoacylglycerol lipase ABHD22-arachidonoylglycerol hydrolaseabhydrolase domain containing 2abhydrolase domain-containing protein 2acetylesterasealpha/beta hydrolase domain containing protein 2lung alpha/beta hydrolase 2progesterone-sensitive lipas
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000355112, ENST00000560509, 
ENST00000560136, 
Fusion gene scores* DoF score7 X 7 X 2=9811 X 11 X 4=484
# samples 813
** MAII scorelog2(8/98*10)=-0.292781749227846
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/484*10)=-1.89649542424614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BLM [Title/Abstract] AND ABHD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBLM(91260671)-ABHD2(89694908), # samples:2
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
HgeneBLM

GO:0000729

DNA double-strand break processing

21325134

HgeneBLM

GO:0006974

cellular response to DNA damage stimulus

23509288

HgeneBLM

GO:0007095

mitotic G2 DNA damage checkpoint

11309417

HgeneBLM

GO:0010165

response to X-ray

11309417

HgeneBLM

GO:0031297

replication fork processing

17115688

HgeneBLM

GO:0032508

DNA duplex unwinding

11735402|24816114|25901030

HgeneBLM

GO:0044806

G-quadruplex DNA unwinding

11735402

HgeneBLM

GO:0045893

positive regulation of transcription, DNA-templated

11781842

HgeneBLM

GO:0051259

protein complex oligomerization

28228481

HgeneBLM

GO:0051260

protein homooligomerization

28228481

HgeneBLM

GO:0061820

telomeric D-loop disassembly

19734539

HgeneBLM

GO:0071479

cellular response to ionizing radiation

23509288

HgeneBLM

GO:0072711

cellular response to hydroxyurea

23509288

HgeneBLM

GO:0072757

cellular response to camptothecin

23509288

TgeneABHD2

GO:0032570

response to progesterone

26989199

TgeneABHD2

GO:0043401

steroid hormone mediated signaling pathway

26989199

TgeneABHD2

GO:0046464

acylglycerol catabolic process

26989199

TgeneABHD2

GO:0048240

sperm capacitation

26989199



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-CG-4449-01ABLMchr15

91260671

-ABHD2chr15

89694908

+
ChimerDB4STADTCGA-CG-4449-01ABLMchr15

91260671

+ABHD2chr15

89694908

+
ChimerDB4STADTCGA-CG-4449-01ABLMchr15

91267374

+ABHD2chr15

89694908

+
ChimerDB4STADTCGA-CG-4449BLMchr15

91260671

+ABHD2chr15

89694907

+


Top

Fusion Gene ORF analysis for BLM-ABHD2

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-3CDSENST00000355112ENST00000352732BLMchr15

91260671

+ABHD2chr15

89694908

+
5UTR-3CDSENST00000355112ENST00000352732BLMchr15

91260671

+ABHD2chr15

89694907

+
5UTR-3CDSENST00000355112ENST00000355100BLMchr15

91260671

+ABHD2chr15

89694908

+
5UTR-3CDSENST00000355112ENST00000355100BLMchr15

91260671

+ABHD2chr15

89694907

+
5UTR-3CDSENST00000355112ENST00000565973BLMchr15

91260671

+ABHD2chr15

89694908

+
5UTR-3CDSENST00000355112ENST00000565973BLMchr15

91260671

+ABHD2chr15

89694907

+
5UTR-3CDSENST00000560509ENST00000352732BLMchr15

91260671

+ABHD2chr15

89694908

+
5UTR-3CDSENST00000560509ENST00000352732BLMchr15

91260671

+ABHD2chr15

89694907

+
5UTR-3CDSENST00000560509ENST00000355100BLMchr15

91260671

+ABHD2chr15

89694908

+
5UTR-3CDSENST00000560509ENST00000355100BLMchr15

91260671

+ABHD2chr15

89694907

+
5UTR-3CDSENST00000560509ENST00000565973BLMchr15

91260671

+ABHD2chr15

89694908

+
5UTR-3CDSENST00000560509ENST00000565973BLMchr15

91260671

+ABHD2chr15

89694907

+
5UTR-intronENST00000355112ENST00000562254BLMchr15

91260671

+ABHD2chr15

89694908

+
5UTR-intronENST00000355112ENST00000562254BLMchr15

91260671

+ABHD2chr15

89694907

+
5UTR-intronENST00000560509ENST00000562254BLMchr15

91260671

+ABHD2chr15

89694908

+
5UTR-intronENST00000560509ENST00000562254BLMchr15

91260671

+ABHD2chr15

89694907

+
intron-3CDSENST00000355112ENST00000352732BLMchr15

91267374

+ABHD2chr15

89694908

+
intron-3CDSENST00000355112ENST00000355100BLMchr15

91267374

+ABHD2chr15

89694908

+
intron-3CDSENST00000355112ENST00000565973BLMchr15

91267374

+ABHD2chr15

89694908

+
intron-3CDSENST00000560136ENST00000352732BLMchr15

91260671

+ABHD2chr15

89694908

+
intron-3CDSENST00000560136ENST00000352732BLMchr15

91267374

+ABHD2chr15

89694908

+
intron-3CDSENST00000560136ENST00000352732BLMchr15

91260671

+ABHD2chr15

89694907

+
intron-3CDSENST00000560136ENST00000355100BLMchr15

91260671

+ABHD2chr15

89694908

+
intron-3CDSENST00000560136ENST00000355100BLMchr15

91267374

+ABHD2chr15

89694908

+
intron-3CDSENST00000560136ENST00000355100BLMchr15

91260671

+ABHD2chr15

89694907

+
intron-3CDSENST00000560136ENST00000565973BLMchr15

91260671

+ABHD2chr15

89694908

+
intron-3CDSENST00000560136ENST00000565973BLMchr15

91267374

+ABHD2chr15

89694908

+
intron-3CDSENST00000560136ENST00000565973BLMchr15

91260671

+ABHD2chr15

89694907

+
intron-3CDSENST00000560509ENST00000352732BLMchr15

91267374

+ABHD2chr15

89694908

+
intron-3CDSENST00000560509ENST00000355100BLMchr15

91267374

+ABHD2chr15

89694908

+
intron-3CDSENST00000560509ENST00000565973BLMchr15

91267374

+ABHD2chr15

89694908

+
intron-intronENST00000355112ENST00000562254BLMchr15

91267374

+ABHD2chr15

89694908

+
intron-intronENST00000560136ENST00000562254BLMchr15

91260671

+ABHD2chr15

89694908

+
intron-intronENST00000560136ENST00000562254BLMchr15

91267374

+ABHD2chr15

89694908

+
intron-intronENST00000560136ENST00000562254BLMchr15

91260671

+ABHD2chr15

89694907

+
intron-intronENST00000560509ENST00000562254BLMchr15

91267374

+ABHD2chr15

89694908

+

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

Top

Fusion Genomic Features for BLM-ABHD2


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)
BLMchr1591260671+ABHD2chr1589694907+0.0002991550.9997009
BLMchr1591260671+ABHD2chr1589694907+0.0002991550.9997009
BLMchr1591260671+ABHD2chr1589694907+0.0002991550.9997009
BLMchr1591260671+ABHD2chr1589694907+0.0002991550.9997009


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%

Top

Fusion Protein Features for BLM-ABHD2


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/:91260671/:89694908)
- 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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

Fusion Gene Sequence for BLM-ABHD2


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.

Top

Fusion Gene PPI Analysis for BLM-ABHD2


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 BLM-ABHD2


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 BLM-ABHD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBLMC0005859Bloom Syndrome10CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneBLMC0007097Carcinoma1GENOMICS_ENGLAND
HgeneBLMC0021051Immunologic Deficiency Syndromes1GENOMICS_ENGLAND
HgeneBLMC0023418leukemia1CGI;GENOMICS_ENGLAND
HgeneBLMC0023449Acute lymphocytic leukemia1GENOMICS_ENGLAND
HgeneBLMC0023465Acute monocytic leukemia1GENOMICS_ENGLAND
HgeneBLMC0023467Leukemia, Myelocytic, Acute1GENOMICS_ENGLAND
HgeneBLMC0024299Lymphoma1CGI;GENOMICS_ENGLAND
HgeneBLMC0265219Miller Dieker syndrome1GENOMICS_ENGLAND
HgeneBLMC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1GENOMICS_ENGLAND
HgeneBLMC3463824MYELODYSPLASTIC SYNDROME1GENOMICS_ENGLAND