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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:BLCAP-MIER1 (FusionGDB2 ID:9848)

Fusion Gene Summary for BLCAP-MIER1

Fusion gene summary

Fusion gene information	Fusion gene name: BLCAP-MIER1
	Fusion gene ID: 9848
		Hgene	Tgene
	Gene symbol	BLCAP	MIER1
	Gene ID	10904	57708
	Gene name	BLCAP apoptosis inducing factor	MIER1 transcriptional regulator
	Synonyms	BC10	ER1\|MI-ER1
	Cytomap	20q11.23	1p31.3
	Type of gene	protein-coding	protein-coding
	Description	bladder cancer-associated proteinbladder cancer associated proteinbladder cancer related protein (10kD)	mesoderm induction early response protein 1mesoderm induction early response 1 homologmesoderm induction early response 1, transcriptional regulator
	Modification date	20200313	20200313
	UniProtAcc	P62952	Q8N108
	Ensembl transtripts involved in fusion gene	ENST00000411780, ENST00000397137, ENST00000373537, ENST00000414542, ENST00000397135, ENST00000397134, ENST00000397131,	ENST00000371018, ENST00000355977, ENST00000357692, ENST00000401041, ENST00000371016, ENST00000371014, ENST00000371012, ENST00000401042, ENST00000355356, ENST00000479067,
Fusion gene scores	* DoF score	12 X 8 X 5=480	3 X 3 X 2=18
	# samples	12	3
	** MAII score	log2(12/480*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: BLCAP [Title/Abstract] AND MIER1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	BLCAP(36139530)-MIER1(67425367), # 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)

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	BLCAP	GO:0030262	apoptotic nuclear changes	17031575
Tgene	MIER1	GO:0016575	histone deacetylation	28046085
Tgene	MIER1	GO:0031937	positive regulation of chromatin silencing	12482978

Fusion gene breakpoints across BLCAP (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 MIER1 (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
ChiTaRS5.0	N/A	BF770401	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+

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Fusion Gene ORF analysis for BLCAP-MIER1

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
intron-3CDS	ENST00000411780	ENST00000371018	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000411780	ENST00000355977	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000411780	ENST00000357692	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000411780	ENST00000401041	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000411780	ENST00000371016	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000411780	ENST00000371014	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000411780	ENST00000371012	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000411780	ENST00000401042	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000411780	ENST00000355356	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3UTR	ENST00000411780	ENST00000479067	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397137	ENST00000371018	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397137	ENST00000355977	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397137	ENST00000357692	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397137	ENST00000401041	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397137	ENST00000371016	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397137	ENST00000371014	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000397137	ENST00000371012	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000397137	ENST00000401042	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000397137	ENST00000355356	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3UTR	ENST00000397137	ENST00000479067	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000373537	ENST00000371018	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000373537	ENST00000355977	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000373537	ENST00000357692	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000373537	ENST00000401041	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000373537	ENST00000371016	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000373537	ENST00000371014	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000373537	ENST00000371012	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000373537	ENST00000401042	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000373537	ENST00000355356	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3UTR	ENST00000373537	ENST00000479067	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000414542	ENST00000371018	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000414542	ENST00000355977	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000414542	ENST00000357692	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000414542	ENST00000401041	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000414542	ENST00000371016	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000414542	ENST00000371014	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000414542	ENST00000371012	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000414542	ENST00000401042	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000414542	ENST00000355356	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3UTR	ENST00000414542	ENST00000479067	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397135	ENST00000371018	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397135	ENST00000355977	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397135	ENST00000357692	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397135	ENST00000401041	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397135	ENST00000371016	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397135	ENST00000371014	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000397135	ENST00000371012	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000397135	ENST00000401042	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000397135	ENST00000355356	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3UTR	ENST00000397135	ENST00000479067	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397134	ENST00000371018	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397134	ENST00000355977	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397134	ENST00000357692	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397134	ENST00000401041	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397134	ENST00000371016	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397134	ENST00000371014	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000397134	ENST00000371012	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000397134	ENST00000401042	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000397134	ENST00000355356	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3UTR	ENST00000397134	ENST00000479067	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397131	ENST00000371018	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397131	ENST00000355977	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397131	ENST00000357692	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397131	ENST00000401041	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397131	ENST00000371016	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3CDS	ENST00000397131	ENST00000371014	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000397131	ENST00000371012	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000397131	ENST00000401042	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-intron	ENST00000397131	ENST00000355356	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+
intron-3UTR	ENST00000397131	ENST00000479067	BLCAP	chr20	36139530	-	MIER1	chr1	67425367	+

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 BLCAP-MIER1

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)

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 BLCAP-MIER1

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.

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

Hgene	Tgene
BLCAP P62952	MIER1 Q8N108
FUNCTION: May regulate cell proliferation and coordinate apoptosis and cell cycle progression via a novel mechanism independent of both p53/TP53 and NF-kappa-B. {ECO:0000269\|PubMed:17031575}.	FUNCTION: Transcriptional repressor regulating the expression of a number of genes including SP1 target genes. Probably functions through recruitment of HDAC1 a histone deacetylase involved in chromatin silencing. {ECO:0000269\|PubMed:12482978}.

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 BLCAP-MIER1

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 BLCAP-MIER1

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 BLCAP-MIER1

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 BLCAP-MIER1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source