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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:BCL2L11-AFMID (FusionGDB2 ID:HG10018TG125061)

Fusion Gene Summary for BCL2L11-AFMID

check button Fusion gene summary
Fusion gene informationFusion gene name: BCL2L11-AFMID
Fusion gene ID: hg10018tg125061
HgeneTgene
Gene symbol

BCL2L11

AFMID

Gene ID

10018

125061

Gene nameBCL2 like 11arylformamidase
SynonymsBAM|BIM|BODFKF|KF|KFA
Cytomap('BCL2L11')('AFMID')

2q13

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionbcl-2-like protein 11BCL2-like 11 (apoptosis facilitator)bcl-2 interacting mediator of cell deathbcl-2 interacting protein Bimbcl-2-related ovarian death agonistkynurenine formamidaseKFaseN-formylkynurenine formamidaseprobable arylformamidase
Modification date2020031320200313
UniProtAcc.

Q63HM1

Ensembl transtripts involved in fusion geneENST00000308659, ENST00000337565, 
ENST00000357757, ENST00000393256, 
ENST00000405953, ENST00000393253, 
Fusion gene scores* DoF score7 X 4 X 6=1686 X 6 X 5=180
# samples 98
** MAII scorelog2(9/168*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/180*10)=-1.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BCL2L11 [Title/Abstract] AND AFMID [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCL2L11(111881716)-AFMID(76187051), # samples:2
Anticipated loss of major functional domain due to fusion event.BCL2L11-AFMID seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
BCL2L11-AFMID seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted 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
HgeneBCL2L11

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

11546872

HgeneBCL2L11

GO:0031334

positive regulation of protein complex assembly

21041309

HgeneBCL2L11

GO:0034976

response to endoplasmic reticulum stress

22761832

HgeneBCL2L11

GO:2000271

positive regulation of fibroblast apoptotic process

11997495



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
ChimerDB4BRCATCGA-BH-A18Q-01ABCL2L11chr2

111881716

-AFMIDchr17

76187051

+
ChimerDB4BRCATCGA-BH-A18Q-01ABCL2L11chr2

111881716

+AFMIDchr17

76187051

+
ChimerDB4BRCATCGA-BH-A18QBCL2L11chr2

111881716

+AFMIDchr17

76187050

+


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Fusion Gene ORF analysis for BCL2L11-AFMID

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
5CDS-intronENST00000308659ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
5CDS-intronENST00000308659ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
5CDS-intronENST00000337565ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
5CDS-intronENST00000337565ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
5CDS-intronENST00000357757ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
5CDS-intronENST00000357757ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
5CDS-intronENST00000393256ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
5CDS-intronENST00000393256ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
5CDS-intronENST00000405953ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
5CDS-intronENST00000405953ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000308659ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000308659ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000308659ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000308659ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000308659ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000308659ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000308659ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000308659ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000308659ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000308659ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000308659ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000308659ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000337565ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000337565ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000337565ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000337565ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000337565ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000337565ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000337565ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000337565ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000337565ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000337565ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000337565ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000337565ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000357757ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000357757ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000357757ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000357757ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000357757ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000357757ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000357757ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000357757ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000357757ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000357757ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000357757ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000357757ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000393256ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000393256ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000393256ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000393256ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000393256ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000393256ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000393256ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000393256ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000393256ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000393256ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000393256ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000393256ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000405953ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000405953ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000405953ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000405953ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000405953ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000405953ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000405953ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000405953ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000405953ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000405953ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
Frame-shiftENST00000405953ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shiftENST00000405953ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
intron-3CDSENST00000393253ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-3CDSENST00000393253ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
intron-3CDSENST00000393253ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-3CDSENST00000393253ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
intron-3CDSENST00000393253ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-3CDSENST00000393253ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
intron-3CDSENST00000393253ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-3CDSENST00000393253ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
intron-3CDSENST00000393253ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-3CDSENST00000393253ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
intron-3CDSENST00000393253ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-3CDSENST00000393253ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187050

+
intron-intronENST00000393253ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-intronENST00000393253ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187050

+

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 BCL2L11-AFMID


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)
BCL2L11chr2111881716+AFMIDchr1776187050+0.0029352450.99706477
BCL2L11chr2111881716+AFMIDchr1776187050+0.0029352450.99706477
BCL2L11chr2111881716+AFMIDchr1776187050+0.0029352450.99706477
BCL2L11chr2111881716+AFMIDchr1776187050+0.0029352450.99706477


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%

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Fusion Protein Features for BCL2L11-AFMID


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/:111881716/:76187051)
- 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
.AFMID

Q63HM1

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: Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites. {ECO:0000255|HAMAP-Rule:MF_03014}.

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 BCL2L11-AFMID


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 BCL2L11-AFMID


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 BCL2L11-AFMID


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

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Related Diseases for BCL2L11-AFMID


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCL2L11C0008313Cholangitis, Sclerosing1CTD_human
HgeneBCL2L11C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneBCL2L11C0566602Primary sclerosing cholangitis1CTD_human
HgeneBCL2L11C2931456Prostate cancer, familial1CTD_human
HgeneBCL2L11C4722327PROSTATE CANCER, HEREDITARY, 11CTD_human