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:9794)

Fusion Gene Summary for BLM-ABHD2

check button Fusion gene summary
Fusion gene informationFusion gene name: BLM-ABHD2
Fusion gene ID: 9794
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

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

P54132

P08910

Ensembl transtripts involved in fusion geneENST00000355112, ENST00000560509, 
ENST00000560136, 		ENST00000352732, 
ENST00000355100, ENST00000565973, 
ENST00000562254, 
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 buttonFusion gene breakpoints across BLM (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 ABHD2 (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
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. 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.
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
BLM

P54132

ABHD2

P08910

FUNCTION: ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:9388193, PubMed:24816114, PubMed:25901030). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:21325134). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution (PubMed:25901030). Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction (PubMed:20639533, PubMed:24257077, PubMed:25901030). Recruited by the KHDC3L-OOEP scaffold to DNA replication forks where it is retained by TRIM25 ubiquitination, it thereby promotes the restart of stalled replication forks (By similarity). {ECO:0000250|UniProtKB:O88700, ECO:0000269|PubMed:12019152, ECO:0000269|PubMed:20639533, ECO:0000269|PubMed:21325134, ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:24257077, ECO:0000269|PubMed:24816114, ECO:0000269|PubMed:25901030, ECO:0000269|PubMed:9388193}.FUNCTION: Progesterone-dependent acylglycerol lipase that catalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG) from cell membrane (PubMed:26989199). Acts as a progesterone receptor: progesterone-binding activates the acylglycerol lipase activity, mediating degradation of 1-arachidonoylglycerol (1AG) and 2-arachidonoylglycerol (2AG) to glycerol and arachidonic acid (AA) (PubMed:26989199). Also displays an ester hydrolase activity against acetyl ester, butanoate ester and hexadecanoate ester (PubMed:27247428). Plays a key role in sperm capacitation in response to progesterone by mediating degradation of 2AG, an inhibitor of the sperm calcium channel CatSper, leading to calcium influx via CatSper and sperm activation (PubMed:26989199). May also play a role in smooth muscle cells migration (By similarity). {ECO:0000250|UniProtKB:Q9QXM0, ECO:0000269|PubMed:26989199, ECO:0000269|PubMed:27247428}.

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