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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:MBP-ALMS1 (FusionGDB2 ID:HG4155TG7840)

Fusion Gene Summary for MBP-ALMS1

Fusion gene summary

Fusion gene information	Fusion gene name: MBP-ALMS1
	Fusion gene ID: hg4155tg7840
		Hgene	Tgene
	Gene symbol	MBP	ALMS1
	Gene ID	4155	7840
	Gene name	myelin basic protein	ALMS1 centrosome and basal body associated protein
	Synonyms	-	ALSS
	Cytomap	('MBP')('ALMS1') 18q23	2p13.1
	Type of gene	protein-coding	protein-coding
	Description	myelin basic proteinGolli-MBPproline-rich proteoglycan 2myelin A1 proteinmyelin membrane encephalitogenic protein	Alstrom syndrome protein 1Alstrom syndrome 1
	Modification date	20200313	20200329
	UniProtAcc	P02686	.
	Ensembl transtripts involved in fusion gene	ENST00000355994, ENST00000354542, ENST00000359645, ENST00000382582, ENST00000397860, ENST00000397863, ENST00000397865, ENST00000397866, ENST00000397869, ENST00000397875, ENST00000487778, ENST00000526111, ENST00000527041, ENST00000528160, ENST00000578193, ENST00000579129, ENST00000580402,
Fusion gene scores	* DoF score	26 X 20 X 7=3640	7 X 7 X 5=245
	# samples	26	8
	** MAII score	log2(26/3640*10)=-3.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/245*10)=-1.61470984411521 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: MBP [Title/Abstract] AND ALMS1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	MBP(74690794)-ALMS1(73823368), # samples:3
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	MBP	GO:0000165	MAPK cascade	22524708
Hgene	MBP	GO:0034115	negative regulation of heterotypic cell-cell adhesion	22524708
Hgene	MBP	GO:0035633	maintenance of permeability of blood-brain barrier	22524708
Hgene	MBP	GO:1904209	positive regulation of chemokine (C-C motif) ligand 2 secretion	22524708
Hgene	MBP	GO:1904685	positive regulation of metalloendopeptidase activity	22524708
Hgene	MBP	GO:2000778	positive regulation of interleukin-6 secretion	22524708

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	AV722334	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
ChiTaRS5.0	N/A	AV723294	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
ChiTaRS5.0	N/A	AV724910	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-

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Fusion Gene ORF analysis for MBP-ALMS1

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	ENST00000355994	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
5CDS-intron	ENST00000355994	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
5CDS-intron	ENST00000355994	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
5CDS-intron	ENST00000355994	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000354542	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000354542	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000354542	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000354542	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000359645	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000359645	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000359645	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000359645	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000382582	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000382582	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000382582	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000382582	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397860	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397860	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397860	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397860	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397863	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397863	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397863	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397863	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397865	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397865	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397865	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397865	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397866	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397866	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397866	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397866	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397869	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397869	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397869	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397869	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397875	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397875	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397875	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000397875	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000487778	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000487778	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000487778	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000487778	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000526111	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000526111	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000526111	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000526111	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000527041	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000527041	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000527041	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000527041	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000528160	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000528160	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000528160	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000528160	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000578193	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000578193	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000578193	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000578193	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000579129	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000579129	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000579129	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000579129	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000580402	ENST00000264448	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000580402	ENST00000377715	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000580402	ENST00000409009	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-
intron-intron	ENST00000580402	ENST00000464408	MBP	chr18	74690794	-	ALMS1	chr2	73823368	-

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 MBP-ALMS1

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)

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Fusion Protein Features for MBP-ALMS1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:74690794/:73823368)
- 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
MBP P02686	.
FUNCTION: The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non-classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T-cells and neural cells. Differential splicing events combined with optional post-translational modifications give a wide spectrum of isomers, with each of them potentially having a specialized function. Induces T-cell proliferation. {ECO:0000269\|PubMed:8544862}.	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}.

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 MBP-ALMS1

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 MBP-ALMS1

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 MBP-ALMS1

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 MBP-ALMS1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	MBP	C0036341	Schizophrenia	4	PSYGENET
Hgene	MBP	C0014072	Experimental Autoimmune Encephalomyelitis	3	CTD_human
Hgene	MBP	C0001973	Alcoholic Intoxication, Chronic	1	PSYGENET
Hgene	MBP	C0011303	Demyelinating Diseases	1	CTD_human
Hgene	MBP	C0011304	Demyelination	1	CTD_human
Hgene	MBP	C0027873	Neuromyelitis Optica	1	CTD_human
Hgene	MBP	C2350037	Clinically Isolated Syndrome, CNS Demyelinating	1	CTD_human
Tgene		C0268425	Alstrom Syndrome	11	CLINGEN;CTD_human;GENOMICS_ENGLAND
Tgene		C0007193	Cardiomyopathy, Dilated	1	CTD_human
Tgene		C0152427	Polydactyly	1	GENOMICS_ENGLAND
Tgene		C0752166	Bardet-Biedl Syndrome	1	GENOMICS_ENGLAND
Tgene		C1449563	Cardiomyopathy, Familial Idiopathic	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:MBP-ALMS1 (FusionGDB2 ID:HG4155TG7840)

Fusion Gene Summary for MBP-ALMS1

Fusion Gene ORF analysis for MBP-ALMS1

Fusion Genomic Features for MBP-ALMS1

Fusion Protein Features for MBP-ALMS1

Fusion Gene Sequence for MBP-ALMS1

Fusion Gene PPI Analysis for MBP-ALMS1

Related Drugs for MBP-ALMS1

Related Diseases for MBP-ALMS1

Fusion Gene Studies
in Kim Lab