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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:BCL2L11-AFMID (FusionGDB2 ID:9341)

Fusion Gene Summary for BCL2L11-AFMID

Fusion gene summary

Fusion gene information	Fusion gene name: BCL2L11-AFMID
	Fusion gene ID: 9341
		Hgene	Tgene
	Gene symbol	BCL2L11	AFMID
	Gene ID	10018	125061
	Gene name	BCL2 like 11	arylformamidase
	Synonyms	BAM\|BIM\|BOD	FKF\|KF\|KFA
	Cytomap	2q13	17q25.3
	Type of gene	protein-coding	protein-coding
	Description	bcl-2-like protein 11BCL2-like 11 (apoptosis facilitator)bcl-2 interacting mediator of cell deathbcl-2 interacting protein Bimbcl-2-related ovarian death agonist	kynurenine formamidaseKFaseN-formylkynurenine formamidaseprobable arylformamidase
	Modification date	20200313	20200313
	UniProtAcc	O43521	Q63HM1
	Ensembl transtripts involved in fusion gene	ENST00000308659, ENST00000337565, ENST00000357757, ENST00000393256, ENST00000405953, ENST00000393253,	ENST00000589664, ENST00000327898, ENST00000409257, ENST00000586731, ENST00000588800, ENST00000589256, ENST00000591952,
Fusion gene scores	* DoF score	7 X 4 X 6=168	6 X 6 X 5=180
	# samples	9	8
	** MAII score	log2(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 breakpoint	BCL2L11(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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	BCL2L11	GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	11546872
Hgene	BCL2L11	GO:0031334	positive regulation of protein complex assembly	21041309
Hgene	BCL2L11	GO:0034976	response to endoplasmic reticulum stress	22761832
Hgene	BCL2L11	GO:2000271	positive regulation of fibroblast apoptotic process	11997495

Fusion gene breakpoints across BCL2L11 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across AFMID (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	BRCA	TCGA-BH-A18Q-01A	BCL2L11	chr2	111881716	-	AFMID	chr17	76187051	+
ChimerDB4	BRCA	TCGA-BH-A18Q-01A	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
ChimerDB4	BRCA	TCGA-BH-A18Q	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+

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Fusion Gene ORF analysis for BCL2L11-AFMID

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-intron	ENST00000308659	ENST00000589664	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
5CDS-intron	ENST00000308659	ENST00000589664	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
5CDS-intron	ENST00000337565	ENST00000589664	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
5CDS-intron	ENST00000337565	ENST00000589664	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
5CDS-intron	ENST00000357757	ENST00000589664	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
5CDS-intron	ENST00000357757	ENST00000589664	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
5CDS-intron	ENST00000393256	ENST00000589664	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
5CDS-intron	ENST00000393256	ENST00000589664	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
5CDS-intron	ENST00000405953	ENST00000589664	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
5CDS-intron	ENST00000405953	ENST00000589664	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000308659	ENST00000327898	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000308659	ENST00000327898	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000308659	ENST00000409257	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000308659	ENST00000409257	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000308659	ENST00000586731	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000308659	ENST00000586731	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000308659	ENST00000588800	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000308659	ENST00000588800	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000308659	ENST00000589256	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000308659	ENST00000589256	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000308659	ENST00000591952	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000308659	ENST00000591952	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000337565	ENST00000327898	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000337565	ENST00000327898	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000337565	ENST00000409257	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000337565	ENST00000409257	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000337565	ENST00000586731	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000337565	ENST00000586731	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000337565	ENST00000588800	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000337565	ENST00000588800	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000337565	ENST00000589256	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000337565	ENST00000589256	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000337565	ENST00000591952	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000337565	ENST00000591952	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000357757	ENST00000327898	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000357757	ENST00000327898	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000357757	ENST00000409257	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000357757	ENST00000409257	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000357757	ENST00000586731	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000357757	ENST00000586731	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000357757	ENST00000588800	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000357757	ENST00000588800	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000357757	ENST00000589256	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000357757	ENST00000589256	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000357757	ENST00000591952	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000357757	ENST00000591952	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000393256	ENST00000327898	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000393256	ENST00000327898	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000393256	ENST00000409257	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000393256	ENST00000409257	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000393256	ENST00000586731	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000393256	ENST00000586731	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000393256	ENST00000588800	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000393256	ENST00000588800	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000393256	ENST00000589256	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000393256	ENST00000589256	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000393256	ENST00000591952	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000393256	ENST00000591952	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000405953	ENST00000327898	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000405953	ENST00000327898	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000405953	ENST00000409257	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000405953	ENST00000409257	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000405953	ENST00000586731	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000405953	ENST00000586731	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000405953	ENST00000588800	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000405953	ENST00000588800	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000405953	ENST00000589256	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000405953	ENST00000589256	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
Frame-shift	ENST00000405953	ENST00000591952	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
Frame-shift	ENST00000405953	ENST00000591952	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
intron-3CDS	ENST00000393253	ENST00000327898	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
intron-3CDS	ENST00000393253	ENST00000327898	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
intron-3CDS	ENST00000393253	ENST00000409257	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
intron-3CDS	ENST00000393253	ENST00000409257	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
intron-3CDS	ENST00000393253	ENST00000586731	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
intron-3CDS	ENST00000393253	ENST00000586731	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
intron-3CDS	ENST00000393253	ENST00000588800	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
intron-3CDS	ENST00000393253	ENST00000588800	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
intron-3CDS	ENST00000393253	ENST00000589256	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
intron-3CDS	ENST00000393253	ENST00000589256	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
intron-3CDS	ENST00000393253	ENST00000591952	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
intron-3CDS	ENST00000393253	ENST00000591952	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+
intron-intron	ENST00000393253	ENST00000589664	BCL2L11	chr2	111881716	+	AFMID	chr17	76187051	+
intron-intron	ENST00000393253	ENST00000589664	BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for BCL2L11-AFMID

FusionAI 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+	0.002935245	0.99706477
BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+	0.002935245	0.99706477
BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+	0.002935245	0.99706477
BCL2L11	chr2	111881716	+	AFMID	chr17	76187050	+	0.002935245	0.99706477

Distribution 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.

Distribution 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 BCL2L11-AFMID

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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
BCL2L11 O43521	AFMID Q63HM1
FUNCTION: Induces apoptosis and anoikis. Isoform BimL is more potent than isoform BimEL. Isoform Bim-alpha1, isoform Bim-alpha2 and isoform Bim-alpha3 induce apoptosis, although less potent than isoform BimEL, isoform BimL and isoform BimS. Isoform Bim-gamma induces apoptosis. Isoform Bim-alpha3 induces apoptosis possibly through a caspase-mediated pathway. Isoform BimAC and isoform BimABC lack the ability to induce apoptosis. {ECO:0000269\|PubMed:11997495, ECO:0000269\|PubMed:15486195, ECO:0000269\|PubMed:9430630}.	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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for BCL2L11-AFMID

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

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for BCL2L11-AFMID

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for BCL2L11-AFMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source