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Center for Computational Systems Medicine
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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:CBS-MIF (FusionGDB2 ID:HG875TG4282)

Fusion Gene Summary for CBS-MIF

check button Fusion gene summary
Fusion gene informationFusion gene name: CBS-MIF
Fusion gene ID: hg875tg4282
HgeneTgene
Gene symbol

CBS

MIF

Gene ID

875

4282

Gene namecystathionine beta-synthasemacrophage migration inhibitory factor
SynonymsCBSL|HIP4GIF|GLIF|MMIF
Cytomap('CBS')('MIF')

21q22.3

22q11.23

Type of geneprotein-codingprotein-coding
Descriptioncystathionine beta-synthaseCystathionine beta-synthase-like proteinbeta-thionasemethylcysteine synthaseserine sulfhydrasemacrophage migration inhibitory factorL-dopachrome isomeraseL-dopachrome tautomeraseepididymis secretory sperm binding proteinmacrophage migration inhibitory factor (glycosylation-inhibiting factor)phenylpyruvate tautomerase
Modification date2020032020200322
UniProtAcc

P35520

.
Ensembl transtripts involved in fusion geneENST00000352178, ENST00000359624, 
ENST00000398158, ENST00000398165, 
ENST00000398168, ENST00000544202, 
ENST00000470912, 
Fusion gene scores* DoF score2 X 2 X 2=86 X 4 X 5=120
# samples 210
** MAII scorelog2(2/8*10)=1.32192809488736log2(10/120*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CBS [Title/Abstract] AND MIF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCBS(44476912)-MIF(24236564), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCBS

GO:0006563

L-serine metabolic process

19010420

HgeneCBS

GO:0006565

L-serine catabolic process

18776696

HgeneCBS

GO:0019344

cysteine biosynthetic process

24416422

HgeneCBS

GO:0019448

L-cysteine catabolic process

15520012

HgeneCBS

GO:0043418

homocysteine catabolic process

18776696|24416422

HgeneCBS

GO:0050667

homocysteine metabolic process

19010420|20031578|23981774

HgeneCBS

GO:0070814

hydrogen sulfide biosynthetic process

15520012|24416422

TgeneMIF

GO:0001516

prostaglandin biosynthetic process

12782713

TgeneMIF

GO:0007166

cell surface receptor signaling pathway

12782713

TgeneMIF

GO:0010629

negative regulation of gene expression

10562313

TgeneMIF

GO:0010739

positive regulation of protein kinase A signaling

17045821

TgeneMIF

GO:0010760

negative regulation of macrophage chemotaxis

21817065

TgeneMIF

GO:0019752

carboxylic acid metabolic process

12782713

TgeneMIF

GO:0030890

positive regulation of B cell proliferation

12782713

TgeneMIF

GO:0032760

positive regulation of tumor necrosis factor production

21817065

TgeneMIF

GO:0033138

positive regulation of peptidyl-serine phosphorylation

17045821

TgeneMIF

GO:0042327

positive regulation of phosphorylation

12782713

TgeneMIF

GO:0043066

negative regulation of apoptotic process

12782713

TgeneMIF

GO:0043518

negative regulation of DNA damage response, signal transduction by p53 class mediator

17045821

TgeneMIF

GO:0048146

positive regulation of fibroblast proliferation

12782713

TgeneMIF

GO:0050715

positive regulation of cytokine secretion

19602265

TgeneMIF

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

17045821

TgeneMIF

GO:0070374

positive regulation of ERK1 and ERK2 cascade

12782713|17045821

TgeneMIF

GO:0071157

negative regulation of cell cycle arrest

10562313

TgeneMIF

GO:0090344

negative regulation of cell aging

10562313

TgeneMIF

GO:1902166

negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

17045821



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
ChimerDB4OVTCGA-13-1410CBSchr21

44476912

-MIFchr22

24236564

+


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Fusion Gene ORF analysis for CBS-MIF

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-5UTRENST00000352178ENST00000215754CBSchr21

44476912

-MIFchr22

24236564

+
5CDS-5UTRENST00000359624ENST00000215754CBSchr21

44476912

-MIFchr22

24236564

+
5CDS-5UTRENST00000398158ENST00000215754CBSchr21

44476912

-MIFchr22

24236564

+
5CDS-5UTRENST00000398165ENST00000215754CBSchr21

44476912

-MIFchr22

24236564

+
5CDS-5UTRENST00000398168ENST00000215754CBSchr21

44476912

-MIFchr22

24236564

+
5CDS-5UTRENST00000544202ENST00000215754CBSchr21

44476912

-MIFchr22

24236564

+
intron-5UTRENST00000470912ENST00000215754CBSchr21

44476912

-MIFchr22

24236564

+

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 CBS-MIF


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)


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Fusion Protein Features for CBS-MIF


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/:44476912/:24236564)
- 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
CBS

P35520

.
FUNCTION: Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:23981774, PubMed:20506325, PubMed:23974653). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity). {ECO:0000250|UniProtKB:P32232, ECO:0000269|PubMed:20506325, ECO:0000269|PubMed:23974653, ECO:0000269|PubMed:23981774}.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}.

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 CBS-MIF


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 CBS-MIF


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 CBS-MIF


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCBSP35520DB00114Pyridoxal phosphateCofactorSmall moleculeApproved|Investigational|Nutraceutical
HgeneCBSP35520DB00118AdemetionineActivatorSmall moleculeApproved|Investigational|Nutraceutical
HgeneCBSP35520DB00151CysteineSmall moleculeApproved|Nutraceutical

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Related Diseases for CBS-MIF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCBSC0751202Cystathionine beta-Synthase Deficiency Disease51CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCBSC0598608Hyperhomocysteinemia3CTD_human
HgeneCBSC0005586Bipolar Disorder1PSYGENET
HgeneCBSC0007222Cardiovascular Diseases1CTD_human
HgeneCBSC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneCBSC0020538Hypertensive disease1CTD_human
HgeneCBSC0024302Reticulosarcoma1CTD_human
HgeneCBSC0024304Lymphoma, Mixed-Cell1CTD_human
HgeneCBSC0024305Lymphoma, Non-Hodgkin1CTD_human
HgeneCBSC0024306Lymphoma, Undifferentiated1CTD_human
HgeneCBSC0024796Marfan Syndrome1GENOMICS_ENGLAND
HgeneCBSC0025202melanoma1CTD_human
HgeneCBSC0036341Schizophrenia1PSYGENET
HgeneCBSC0079740High Grade Lymphoma (neoplasm)1CTD_human
HgeneCBSC0079741Lymphoma, Intermediate-Grade1CTD_human
HgeneCBSC0079747Low Grade Lymphoma (neoplasm)1CTD_human
HgeneCBSC0079757Diffuse Mixed-Cell Lymphoma1CTD_human
HgeneCBSC0079770Lymphoma, Small Noncleaved-Cell1CTD_human
HgeneCBSC0162429Malnutrition1CTD_human
HgeneCBSC0338715Drug-induced depressive state1PSYGENET
HgeneCBSC3714542Lymphoma, Diffuse1CTD_human
HgeneCBSC4721532Lymphoma, Non-Hodgkin, Familial1CTD_human
TgeneC0003469Anxiety Disorders1CTD_human
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0009319Colitis1CTD_human
TgeneC0011573Endogenous depression1CTD_human
TgeneC0011581Depressive disorder1CTD_human
TgeneC0014518Toxic Epidermal Necrolysis1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0022548Keloid1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0025193Melancholia1CTD_human
TgeneC0025261Memory Disorders1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0034189Pyemia1CTD_human
TgeneC0036690Septicemia1CTD_human
TgeneC0038325Stevens-Johnson Syndrome1CTD_human
TgeneC0041696Unipolar Depression1CTD_human
TgeneC0086133Depressive Syndrome1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0233794Memory impairment1CTD_human
TgeneC0243026Sepsis1CTD_human
TgeneC0282126Depression, Neurotic1CTD_human
TgeneC0345967Malignant mesothelioma1CTD_human
TgeneC0376280Anxiety States, Neurotic1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0751292Age-Related Memory Disorders1CTD_human
TgeneC0751293Memory Disorder, Semantic1CTD_human
TgeneC0751294Memory Disorder, Spatial1CTD_human
TgeneC0751295Memory Loss1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
TgeneC1279420Anxiety neurosis (finding)1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1719672Severe Sepsis1CTD_human
TgeneC3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
TgeneC3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human