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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:DISC1-MDM1 (FusionGDB2 ID:22941)

Fusion Gene Summary for DISC1-MDM1

check button Fusion gene summary
Fusion gene informationFusion gene name: DISC1-MDM1
Fusion gene ID: 22941
HgeneTgene
Gene symbol

DISC1

MDM1

Gene ID

27185

56890

Gene nameDISC1 scaffold proteinMdm1 nuclear protein
SynonymsC1orf136|SCZD9-
Cytomap

1q42.2

12q15

Type of geneprotein-codingprotein-coding
Descriptiondisrupted in schizophrenia 1 proteinnuclear protein MDM1Mdm4, transformed 3T3 cell double minute 1, p53 binding proteinnuclear protein double minute 1
Modification date2020031520200313
UniProtAcc

Q9NRI5

Q8TC05

Ensembl transtripts involved in fusion geneENST00000539444, ENST00000602873, 
ENST00000366633, ENST00000366636, 
ENST00000439617, ENST00000535983, 
ENST00000602281, ENST00000366637, 
ENST00000317586, ENST00000427560, 
ENST00000537876, 		ENST00000303145, 
ENST00000411698, ENST00000540418, 
ENST00000393543, ENST00000430606, 
ENST00000545724, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 13 X 4=468
# samples 29
** MAII scorelog2(2/8*10)=1.32192809488736log2(9/468*10)=-2.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DISC1 [Title/Abstract] AND MDM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDISC1(231954263)-MDM1(68715408), # 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)

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

check buttonFusion gene breakpoints across DISC1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across MDM1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-DX-A7EI-01ADISC1chr1

231954263

-MDM1chr12

68715408

-
ChimerDB4SARCTCGA-DX-A7EI-01ADISC1chr1

231954263

+MDM1chr12

68715408

-


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Fusion Gene ORF analysis for DISC1-MDM1

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
3UTR-5UTRENST00000539444ENST00000303145DISC1chr1

231954263

+MDM1chr12

68715408

-
3UTR-5UTRENST00000539444ENST00000411698DISC1chr1

231954263

+MDM1chr12

68715408

-
3UTR-5UTRENST00000539444ENST00000540418DISC1chr1

231954263

+MDM1chr12

68715408

-
3UTR-5UTRENST00000602873ENST00000303145DISC1chr1

231954263

+MDM1chr12

68715408

-
3UTR-5UTRENST00000602873ENST00000411698DISC1chr1

231954263

+MDM1chr12

68715408

-
3UTR-5UTRENST00000602873ENST00000540418DISC1chr1

231954263

+MDM1chr12

68715408

-
3UTR-intronENST00000539444ENST00000393543DISC1chr1

231954263

+MDM1chr12

68715408

-
3UTR-intronENST00000539444ENST00000430606DISC1chr1

231954263

+MDM1chr12

68715408

-
3UTR-intronENST00000539444ENST00000545724DISC1chr1

231954263

+MDM1chr12

68715408

-
3UTR-intronENST00000602873ENST00000393543DISC1chr1

231954263

+MDM1chr12

68715408

-
3UTR-intronENST00000602873ENST00000430606DISC1chr1

231954263

+MDM1chr12

68715408

-
3UTR-intronENST00000602873ENST00000545724DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000366633ENST00000303145DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000366633ENST00000411698DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000366633ENST00000540418DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000366636ENST00000303145DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000366636ENST00000411698DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000366636ENST00000540418DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000439617ENST00000303145DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000439617ENST00000411698DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000439617ENST00000540418DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000535983ENST00000303145DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000535983ENST00000411698DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000535983ENST00000540418DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000602281ENST00000303145DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000602281ENST00000411698DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-5UTRENST00000602281ENST00000540418DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000366633ENST00000393543DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000366633ENST00000430606DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000366633ENST00000545724DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000366636ENST00000393543DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000366636ENST00000430606DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000366636ENST00000545724DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000439617ENST00000393543DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000439617ENST00000430606DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000439617ENST00000545724DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000535983ENST00000393543DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000535983ENST00000430606DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000535983ENST00000545724DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000602281ENST00000393543DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000602281ENST00000430606DISC1chr1

231954263

+MDM1chr12

68715408

-
5CDS-intronENST00000602281ENST00000545724DISC1chr1

231954263

+MDM1chr12

68715408

-
5UTR-5UTRENST00000366637ENST00000303145DISC1chr1

231954263

+MDM1chr12

68715408

-
5UTR-5UTRENST00000366637ENST00000411698DISC1chr1

231954263

+MDM1chr12

68715408

-
5UTR-5UTRENST00000366637ENST00000540418DISC1chr1

231954263

+MDM1chr12

68715408

-
5UTR-intronENST00000366637ENST00000393543DISC1chr1

231954263

+MDM1chr12

68715408

-
5UTR-intronENST00000366637ENST00000430606DISC1chr1

231954263

+MDM1chr12

68715408

-
5UTR-intronENST00000366637ENST00000545724DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-5UTRENST00000317586ENST00000303145DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-5UTRENST00000317586ENST00000411698DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-5UTRENST00000317586ENST00000540418DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-5UTRENST00000427560ENST00000303145DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-5UTRENST00000427560ENST00000411698DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-5UTRENST00000427560ENST00000540418DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-5UTRENST00000537876ENST00000303145DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-5UTRENST00000537876ENST00000411698DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-5UTRENST00000537876ENST00000540418DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-intronENST00000317586ENST00000393543DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-intronENST00000317586ENST00000430606DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-intronENST00000317586ENST00000545724DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-intronENST00000427560ENST00000393543DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-intronENST00000427560ENST00000430606DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-intronENST00000427560ENST00000545724DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-intronENST00000537876ENST00000393543DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-intronENST00000537876ENST00000430606DISC1chr1

231954263

+MDM1chr12

68715408

-
intron-intronENST00000537876ENST00000545724DISC1chr1

231954263

+MDM1chr12

68715408

-

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 DISC1-MDM1


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)

check buttonDistribution 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.

check buttonDistribution 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 DISC1-MDM1


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/:231954263/:68715408)
- 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
DISC1

Q9NRI5

MDM1

Q8TC05

FUNCTION: Involved in the regulation of multiple aspects of embryonic and adult neurogenesis (PubMed:19502360, PubMed:19303846). Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus (By similarity). Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance (PubMed:19303846). Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including neuron positioning, dendritic development and synapse formation (By similarity). Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A (By similarity). Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development (PubMed:19502360). Inhibits ATF4 transcription factor activity in neurons by disrupting ATF4 dimerization and DNA-binding (By similarity). Plays a role, together with PCNT, in the microtubule network formation (PubMed:18955030). {ECO:0000250|UniProtKB:Q811T9, ECO:0000269|PubMed:18955030, ECO:0000269|PubMed:19303846, ECO:0000269|PubMed:19502360}.FUNCTION: Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules (PubMed:26337392). {ECO:0000269|PubMed:26337392}.

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 DISC1-MDM1


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 DISC1-MDM1


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 DISC1-MDM1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for DISC1-MDM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource