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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:BCLAF1-ANXA5 (FusionGDB2 ID:9536)

Fusion Gene Summary for BCLAF1-ANXA5

check button Fusion gene summary
Fusion gene informationFusion gene name: BCLAF1-ANXA5
Fusion gene ID: 9536
HgeneTgene
Gene symbol

BCLAF1

ANXA5

Gene ID

9774

308

Gene nameBCL2 associated transcription factor 1annexin A5
SynonymsBTF|bK211L9.1ANX5|ENX2|HEL-S-7|PP4|RPRGL3
Cytomap

6q23.3

4q27

Type of geneprotein-codingprotein-coding
Descriptionbcl-2-associated transcription factor 1BCLAF1 and THRAP3 family member 1annexin A5CBP-IPAP-IVAC-alphaanchorin CIIannexin Vannexin-5calphobindin Iendonexin IIepididymis secretory protein Li 7lipocortin Vplacental anticoagulant protein 4placental anticoagulant protein Ithromboplastin inhibitorvascular anticoagulan
Modification date2020031520200313
UniProtAcc

Q9NYF8

P08758

Ensembl transtripts involved in fusion geneENST00000353331, ENST00000531224, 
ENST00000527536, ENST00000530767, 
ENST00000527759, ENST00000031135, 
ENST00000529917, ENST00000392348, 
ENST00000296511, ENST00000501272, 
ENST00000515017, ENST00000509016, 
Fusion gene scores* DoF score10 X 7 X 4=2803 X 4 X 1=12
# samples 104
** MAII scorelog2(10/280*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BCLAF1 [Title/Abstract] AND ANXA5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCLAF1(136603592)-ANXA5(122602850), # 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
HgeneBCLAF1

GO:0043065

positive regulation of apoptotic process

10330179

HgeneBCLAF1

GO:0045892

negative regulation of transcription, DNA-templated

10330179


check buttonFusion gene breakpoints across BCLAF1 (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 ANXA5 (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
ChiTaRS5.0N/AEC574190BCLAF1chr6

136603592

-ANXA5chr4

122602850

+


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Fusion Gene ORF analysis for BCLAF1-ANXA5

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
intron-3CDSENST00000353331ENST00000296511BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000353331ENST00000501272BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-intronENST00000353331ENST00000515017BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-5UTRENST00000353331ENST00000509016BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000531224ENST00000296511BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000531224ENST00000501272BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-intronENST00000531224ENST00000515017BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-5UTRENST00000531224ENST00000509016BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000527536ENST00000296511BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000527536ENST00000501272BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-intronENST00000527536ENST00000515017BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-5UTRENST00000527536ENST00000509016BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000530767ENST00000296511BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000530767ENST00000501272BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-intronENST00000530767ENST00000515017BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-5UTRENST00000530767ENST00000509016BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000527759ENST00000296511BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000527759ENST00000501272BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-intronENST00000527759ENST00000515017BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-5UTRENST00000527759ENST00000509016BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000031135ENST00000296511BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000031135ENST00000501272BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-intronENST00000031135ENST00000515017BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-5UTRENST00000031135ENST00000509016BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000529917ENST00000296511BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000529917ENST00000501272BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-intronENST00000529917ENST00000515017BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-5UTRENST00000529917ENST00000509016BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000392348ENST00000296511BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-3CDSENST00000392348ENST00000501272BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-intronENST00000392348ENST00000515017BCLAF1chr6

136603592

-ANXA5chr4

122602850

+
intron-5UTRENST00000392348ENST00000509016BCLAF1chr6

136603592

-ANXA5chr4

122602850

+

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

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Fusion Genomic Features for BCLAF1-ANXA5


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.

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 BCLAF1-ANXA5


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
BCLAF1

Q9NYF8

ANXA5

P08758

FUNCTION: Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. {ECO:0000269|PubMed:18794151}.FUNCTION: This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade.

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


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Fusion Gene Sequence for BCLAF1-ANXA5


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.

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Fusion Gene PPI Analysis for BCLAF1-ANXA5


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 BCLAF1-ANXA5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneANXA5P08758DB09130CopperSmall moleculeApproved|Investigational
TgeneANXA5P08758DB09130CopperSmall moleculeApproved|Investigational
TgeneANXA5P08758DB09130CopperSmall moleculeApproved|Investigational
TgeneANXA5P08758DB09130CopperSmall moleculeApproved|Investigational
TgeneANXA5P08758DB00591Fluocinolone acetonideInducerSmall moleculeApproved|Investigational|Vet_approved
TgeneANXA5P08758DB00591Fluocinolone acetonideInducerSmall moleculeApproved|Investigational|Vet_approved
TgeneANXA5P08758DB00591Fluocinolone acetonideInducerSmall moleculeApproved|Investigational|Vet_approved
TgeneANXA5P08758DB00591Fluocinolone acetonideInducerSmall moleculeApproved|Investigational|Vet_approved

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Related Diseases for BCLAF1-ANXA5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCLAF1C0149925Small cell carcinoma of lung1CTD_human
TgeneANXA5C0007137Squamous cell carcinoma1CTD_human
TgeneANXA5C0019202Hepatolenticular Degeneration1CTD_human
TgeneANXA5C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneANXA5C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneANXA5C0024623Malignant neoplasm of stomach1CTD_human
TgeneANXA5C0026640Mouth Neoplasms1CTD_human
TgeneANXA5C0026998Acute Myeloid Leukemia, M11CTD_human
TgeneANXA5C0032914Pre-Eclampsia1CTD_human
TgeneANXA5C0038356Stomach Neoplasms1CTD_human
TgeneANXA5C0043094Weight Gain1CTD_human
TgeneANXA5C0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneANXA5C0153381Malignant neoplasm of mouth1CTD_human
TgeneANXA5C1527352Hepatic Form of Wilson Disease1CTD_human
TgeneANXA5C1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneANXA5C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human