Home

Download

Statistics

Examples

Help

Contact

	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:BOD1-ERGIC1 (FusionGDB2 ID:10003)

Fusion Gene Summary for BOD1-ERGIC1

Fusion gene summary

Fusion gene information	Fusion gene name: BOD1-ERGIC1
	Fusion gene ID: 10003
		Hgene	Tgene
	Gene symbol	BOD1	ERGIC1
	Gene ID	91272	57222
	Gene name	biorientation of chromosomes in cell division 1	endoplasmic reticulum-golgi intermediate compartment 1
	Synonyms	FAM44B	AMCN\|ERGIC-32\|ERGIC32\|NET24
	Cytomap	5q35.2	5q35.1
	Type of gene	protein-coding	protein-coding
	Description	biorientation of chromosomes in cell division protein 1biorientation defective 1family with sequence similarity 44, member B	endoplasmic reticulum-Golgi intermediate compartment protein 1ER-Golgi intermediate compartment 32 kDa proteinendoplasmic reticulum-golgi intermediate compartment (ERGIC) 1endoplasmic reticulum-golgi intermediate compartment 32 kDa protein
	Modification date	20200313	20200313
	UniProtAcc	Q96IK1	Q969X5
	Ensembl transtripts involved in fusion gene	ENST00000285908, ENST00000311086, ENST00000471339, ENST00000480951,	ENST00000519860, ENST00000523291, ENST00000326654, ENST00000393784,
Fusion gene scores	* DoF score	2 X 2 X 2=8	10 X 13 X 7=910
	# samples	2	13
	** MAII score	log2(2/8*10)=1.32192809488736	log2(13/910*10)=-2.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: BOD1 [Title/Abstract] AND ERGIC1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	BOD1(173040134)-ERGIC1(172315702), # 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	BOD1	GO:0032515	negative regulation of phosphoprotein phosphatase activity	24157919
Tgene	ERGIC1	GO:0006888	ER to Golgi vesicle-mediated transport	15308636

Fusion gene breakpoints across BOD1 (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 ERGIC1 (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	STAD	TCGA-BR-A4PD-01A	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+

Top

Fusion Gene ORF analysis for BOD1-ERGIC1

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-3UTR	ENST00000285908	ENST00000519860	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
5CDS-3UTR	ENST00000285908	ENST00000523291	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
5CDS-3UTR	ENST00000311086	ENST00000519860	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
5CDS-3UTR	ENST00000311086	ENST00000523291	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
5CDS-intron	ENST00000285908	ENST00000326654	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
5CDS-intron	ENST00000311086	ENST00000326654	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
5UTR-3CDS	ENST00000471339	ENST00000393784	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
5UTR-3UTR	ENST00000471339	ENST00000519860	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
5UTR-3UTR	ENST00000471339	ENST00000523291	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
5UTR-intron	ENST00000471339	ENST00000326654	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
Frame-shift	ENST00000311086	ENST00000393784	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
In-frame	ENST00000285908	ENST00000393784	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
intron-3CDS	ENST00000480951	ENST00000393784	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
intron-3UTR	ENST00000480951	ENST00000519860	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
intron-3UTR	ENST00000480951	ENST00000523291	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+
intron-intron	ENST00000480951	ENST00000326654	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+

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)

ENST00000285908

BOD1

chr5

173040134

ENST00000393784

ERGIC1

chr5

172315702

3236

514

1366

451

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
ENST00000285908	ENST00000393784	BOD1	chr5	173040134	-	ERGIC1	chr5	172315702	+	0.002534573	0.9974654

Top

Fusion Genomic Features for BOD1-ERGIC1

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)
BOD1	chr5	173040133	-	ERGIC1	chr5	172315701	+	1.36E-07	0.9999999
BOD1	chr5	173040133	-	ERGIC1	chr5	172315701	+	1.36E-07	0.9999999

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.

Top

Fusion Protein Features for BOD1-ERGIC1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:173040134/chr5:172315702)
- 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
BOD1 Q96IK1	ERGIC1 Q969X5
FUNCTION: Required for proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles. {ECO:0000269\|PubMed:17938248}.	FUNCTION: Possible role in transport between endoplasmic reticulum and Golgi. {ECO:0000303\|PubMed:15308636}.

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

Hgene

BOD1

chr5:173040134

chr5:172315702

ENST00000285908

4_37

120

130.0

Compositional bias

Note=Gly-rich

Hgene

BOD1

chr5:173040134

chr5:172315702

ENST00000311086

4_37

120

316.0

Compositional bias

Note=Gly-rich

Tgene

ERGIC1

chr5:173040134

chr5:172315702

ENST00000326654

1_26

160.0

Topological domain

Cytoplasmic

Tgene

ERGIC1

chr5:173040134

chr5:172315702

ENST00000326654

276_290

160.0

Topological domain

Cytoplasmic

Tgene

ERGIC1

chr5:173040134

chr5:172315702

ENST00000326654

48_254

160.0

Topological domain

Lumenal

Tgene

ERGIC1

chr5:173040134

chr5:172315702

ENST00000393784

276_290

291.0

Topological domain

Cytoplasmic

Tgene

ERGIC1

chr5:173040134

chr5:172315702

ENST00000393784

48_254

291.0

Topological domain

Lumenal

Tgene

ERGIC1

chr5:173040134

chr5:172315702

ENST00000326654

255_275

160.0

Transmembrane

Helical

Tgene

ERGIC1

chr5:173040134

chr5:172315702

ENST00000326654

27_47

160.0

Transmembrane

Helical

Tgene

ERGIC1

chr5:173040134

chr5:172315702

ENST00000393784

255_275

291.0

Transmembrane

Helical

Tgene

ERGIC1

chr5:173040134

chr5:172315702

ENST00000393784

27_47

291.0

Transmembrane

Helical

- 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

Tgene

ERGIC1

chr5:173040134

chr5:172315702

ENST00000393784

1_26

291.0

Topological domain

Cytoplasmic

Top

Fusion Gene Sequence for BOD1-ERGIC1

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.

>10003_10003_1_BOD1-ERGIC1_BOD1_chr5_173040134_ENST00000285908_ERGIC1_chr5_172315702_ENST00000393784_length(transcript)=3236nt_BP=514nt
CACCACCGCCCCTGCCGCCATCGCCACCTCCGCCGCTGCCGCCTTGGGGCCCTCCTCCTTCACCGCCCCCTTCACCACCTCTACACGTTC
TAGGCCTTCTGTCCTGGAGAAGAAGCTATAGTCGTTCTCCCTTGTGGGCCCGGGGCGCAGCCATGGCGGACGGCGGCGGCGGCGGGGGAA
CTGGCGCGGTGGGCGGCGGCGGAACTAGCCAGGCCTCTGCCGGGGCAGCGACTGGCGCTACTGGGGCCAGCGGGGGCGGTGGCCCCATCA
ACCCGGCCTCGCTGCCTCCCGGCGACCCGCAGCTCATCGCTCTCATCGTGGAGCAGCTCAAGAGCCGGGGCCTTTTTGACAGCTTCCGCC
GGGACTGCCTGGCCGACGTGGACACCAAGCCAGCTTACCAAAACCTGAGGCAGAAAGTGGATAATTTTGTGTCAACACATCTGGACAAGC
AGGAATGGAATCCTACGATGAACAAAAACCAGTTGCGAAATGGTCTGAGGCAGAGTGTGGTTCAGTTTGACATCTACAGGAAGGTGCCCA
AGGACCTTACGCAGCCAACGTACACCGGGGCCATTATCTCCATCTGCTGCTGCCTCTTCATCCTCTTCCTCTTCCTCTCGGAGCTCACCG
GATTTATAACGACAGAAGTTGTGAACGAGCTCTATGTCGATGACCCAGACAAGGACAGCGGTGGCAAGATCGACGTCAGTCTGAACATCA
GTTTACCCAATCTGCACTGCGAGTTGGTTGGGCTTGACATTCAGGATGAGATGGGCAGGCACGAAGTGGGCCACATCGACAACTCCATGA
AGATCCCGCTGAACAATGGGGCAGGCTGCCGCTTCGAGGGGCAGTTCAGCATCAACAAGGTCCCCGGCAACTTCCACGTGTCCACACACA
GTGCCACAGCCCAGCCACAGAACCCAGACATGACGCATGTCATCCACAAGCTCTCCTTTGGGGACACGCTACAGGTCCAGAACATCCACG
GAGCTTTCAATGCTCTCGGGGGAGCAGACAGACTCACCTCCAACCCCCTGGCCTCCCACGACTACATCCTGAAGATTGTGCCCACGGTTT
ATGAGGACAAGAGTGGCAAGCAGCGGTACTCCTACCAGTACACGGTGGCCAACAAGGAATACGTCGCCTACAGCCACACGGGCCGCATCA
TCCCTGCAATCTGGTTCCGCTACGACCTCAGCCCCATCACGGTCAAGTACACAGAGAGACGGCAGCCGCTGTACAGATTCATCACCACGA
TCTGTGCCATCATTGGCGGGACCTTCACCGTCGCCGGCATCCTGGACTCATGCATCTTCACAGCCTCTGAGGCCTGGAAGAAGATCCAGC
TGGGCAAGATGCATTGACGCCACACCCAGCCTAATGGCCGAGGACCCTGGGCATCGCCAGCCTTGCCTCCAGTGCCCTGTCTCCTTTGGC
CCTCAATCTGGTCCCAAATCTGGCTGTGTCCCAAAGGGTGTGTGGGAAGTGGGGGGAAAGTAGAGGATGGCTCGATGTTTTGCAGCTACC
TCTTTTCCCCGTGTTTCTTTTTAGACAAATTACACTGCCTGAAGTTGCAGTTCCCCTTTCCCTGGGGAGCCCCAAGAACAGAGTCAGGCA
AGGGGTGGGGAGTCCAGGGATCTTGGGGACCCCTCCTAGGAGAGCTGCAGTCTCTTCCCTCAGGGGAACATCCCAGAATGCATATCGATC
AGCTCTCAGCCAGGCTTCGACAATCTCGCAGCCCCCACTAGGTGGACACATTAATGATTTGGTTTCTCCCCTGGGCAGCCAACCTGCCCC
AGAGGCACCAGACCTGGGCTTTCAGCTTTGGGACCAGGCTGCCCAAAGGTACTCCTTTATACACCCGGCACCTTCCACGAAAGATGGTAC
TTCCCAAGCAAGCCCCTATGATTTGTCACTATAGATGGAACCCTGACTTCTGCCCCATCCCTTCCTGCCCAACCTAGAACCCAGGCCTCA
AGTCTTTACCCCACCCCTTTCTTGTTCTTCCAAGAAGCAGATGCCCAGTTGCTCAGCAGCAGCGGTAGAGACTTGAATCTGCCCACCAGT
CACAAGGCGGGTCACAGATTCCTCTTCCTCTCTTCTCCTCGTTCCTCTGAACCCTCCACCAATGTGCCTCAGCCTGTGTGCTGTGTGGCA
ACAGCATTCTGGTTCCCACTGCCAAGATCTCCCACCACTCTGCTGGGATCTGCAGTGGCAGGGAGTGGGGGTTGTGTAAAGGGGAAGTCA
TCTTTTGAGATCCAGATAGACATGGTTTGTGCACTTACGTCCAGATGGGAAGCATCCTTCCTGCAACCCTAAAATAATCATGCAGCCTCT
CAGACGGACGCCATCGGTCCCAAGGCCTTAGGTGGAGGAAGCAAAGCAGGCCAGGCCTGTCCTGTCCGTGGACCTCTACCTTCTGGACTC
CCTACGGGTGCAGAGCACTTGGGTTTCTCTACAGCCATCGTGGCCCACTTGACACTGTGCTCCTCCATCAGCTGGTCACATGCCAACACG
TTCCCAGCCCCTGAGGCAGCTCCAGGGTGCCCCACCTGCTCCTGAGGTGGGTCCCTACCCTGCTGCTCCTCTTCATCCTTTCCCTTTTGT
CCTGAAAGGGAGGAGCAATGGTCCAGGCATTAATTCCACCCAGGGAATTTTAGCTATGCCCTCATGTCCCAGGGAGAGAGCCACACGCCT
GTTTTCCATTTATAGCAAGATTGTTTGCATACTTTTGTAATGAAGGGGAGTGTCCAGTGGAAGGATTTTTAAAATTATCTTATGGATAGC
TCAAGTCTCTGCCATTTGTAATTTTTGGCTCTAAGCTCCGATTGGAGACGCTTCTCCTTGTGCATGTGAGTTGACTGATGTTGTGAGTGT
AAATGCATTTGGTTATTTCTGGTATCGGTGGCCACTTGGATGGATTTTTTTACATTCTGTTCCCCAGTTACAGGAAGGAGTCCCTTTGGT
GTGTGAATATGTGTGCCTGTAGAGGGTGGGGCAGGGTGGGGTGGGGATGGAAATGTGTGGCATGCACATGAGTTGAAATTCTTTTATGCA
TTTTTTTGAAGAAAAAAAAAAAAACAACTCTGAGGACATAGGGGATGTCAGTTTCCTATGGAAGAGACACCTCTGACCCGTTATTCTTAT

>10003_10003_1_BOD1-ERGIC1_BOD1_chr5_173040134_ENST00000285908_ERGIC1_chr5_172315702_ENST00000393784_length(amino acids)=451AA_BP=168
MPPSPPPPLPPWGPPPSPPPSPPLHVLGLLSWRRSYSRSPLWARGAAMADGGGGGGTGAVGGGGTSQASAGAATGATGASGGGGPINPAS
LPPGDPQLIALIVEQLKSRGLFDSFRRDCLADVDTKPAYQNLRQKVDNFVSTHLDKQEWNPTMNKNQLRNGLRQSVVQFDIYRKVPKDLT
QPTYTGAIISICCCLFILFLFLSELTGFITTEVVNELYVDDPDKDSGGKIDVSLNISLPNLHCELVGLDIQDEMGRHEVGHIDNSMKIPL
NNGAGCRFEGQFSINKVPGNFHVSTHSATAQPQNPDMTHVIHKLSFGDTLQVQNIHGAFNALGGADRLTSNPLASHDYILKIVPTVYEDK
SGKQRYSYQYTVANKEYVAYSHTGRIIPAIWFRYDLSPITVKYTERRQPLYRFITTICAIIGGTFTVAGILDSCIFTASEAWKKIQLGKM

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for BOD1-ERGIC1

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

Top

Related Drugs for BOD1-ERGIC1

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

Top

Related Diseases for BOD1-ERGIC1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source