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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:CNNM2-NOTCH4 (FusionGDB2 ID:17708)

Fusion Gene Summary for CNNM2-NOTCH4

check button Fusion gene summary
Fusion gene informationFusion gene name: CNNM2-NOTCH4
Fusion gene ID: 17708
HgeneTgene
Gene symbol

CNNM2

NOTCH4

Gene ID

54805

4855

Gene namecyclin and CBS domain divalent metal cation transport mediator 2notch receptor 4
SynonymsACDP2|HOMG6|HOMGSMRINT3
Cytomap

10q24.32

6p21.32

Type of geneprotein-codingprotein-coding
Descriptionmetal transporter CNNM2ancient conserved domain-containing protein 2cyclin M2neurogenic locus notch homolog protein 4Notch homolog 4notch 4
Modification date2020031320200327
UniProtAcc

Q9H8M5

Q99466

Ensembl transtripts involved in fusion geneENST00000369878, ENST00000433628, 
ENST00000369875, ENST00000475511, 
ENST00000375023, ENST00000443903, 
ENST00000465528, ENST00000425600, 
ENST00000437843, ENST00000495974, 
ENST00000439349, ENST00000490019, 
ENST00000383264, ENST00000461090, 
ENST00000454571, ENST00000487528, 
ENST00000457094, ENST00000493728, 
Fusion gene scores* DoF score5 X 2 X 3=302 X 2 X 2=8
# samples 52
** MAII scorelog2(5/30*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/8*10)=1.32192809488736
Context

PubMed: CNNM2 [Title/Abstract] AND NOTCH4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCNNM2(104679858)-NOTCH4(32172166), # samples:1
Anticipated loss of major functional domain due to fusion event.CNNM2-NOTCH4 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CNNM2-NOTCH4 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
TgeneNOTCH4

GO:0030879

mammary gland development

9576833


check buttonFusion gene breakpoints across CNNM2 (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 NOTCH4 (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
ChimerDB4BRCATCGA-C8-A12Q-01ACNNM2chr10

104679858

-NOTCH4chr6

32172166

-


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Fusion Gene ORF analysis for CNNM2-NOTCH4

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
Frame-shiftENST00000369878ENST00000375023CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000443903CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000465528CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000425600CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000437843CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000495974CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000439349CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000490019CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000383264CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000461090CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000454571CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000487528CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000457094CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369878ENST00000493728CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
Frame-shiftENST00000433628ENST00000375023CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000443903CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000465528CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000425600CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000437843CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000495974CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000439349CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000490019CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000383264CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000461090CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000454571CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000487528CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000457094CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000433628ENST00000493728CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
Frame-shiftENST00000369875ENST00000375023CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000443903CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000465528CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000425600CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000437843CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000495974CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000439349CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000490019CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000383264CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000461090CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000454571CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000487528CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000457094CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
5CDS-intronENST00000369875ENST00000493728CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-3CDSENST00000475511ENST00000375023CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000443903CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000465528CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000425600CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000437843CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000495974CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000439349CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000490019CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000383264CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000461090CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000454571CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000487528CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000457094CNNM2chr10

104679858

-NOTCH4chr6

32172166

-
intron-intronENST00000475511ENST00000493728CNNM2chr10

104679858

-NOTCH4chr6

32172166

-

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 CNNM2-NOTCH4


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 CNNM2-NOTCH4


check button 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CNNM2

Q9H8M5

NOTCH4

Q99466

FUNCTION: Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity). {ECO:0000250|UniProtKB:Q3TWN3}.FUNCTION: Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. May regulate branching morphogenesis in the developing vascular system (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 CNNM2-NOTCH4


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 CNNM2-NOTCH4


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 CNNM2-NOTCH4


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 CNNM2-NOTCH4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCNNM2C0036341Schizophrenia2PSYGENET
HgeneCNNM2C3151295HYPOMAGNESEMIA 6, RENAL2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCNNM2C4225333HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCNNM2C0003811Cardiac Arrhythmia1CTD_human
HgeneCNNM2C0022333Jacksonian Seizure1CTD_human
HgeneCNNM2C0022658Kidney Diseases1CTD_human
HgeneCNNM2C0036572Seizures1CTD_human
HgeneCNNM2C0037768Spasmophilia1CTD_human
HgeneCNNM2C0039621Tetany1CTD_human
HgeneCNNM2C0149958Complex partial seizures1CTD_human
HgeneCNNM2C0234533Generalized seizures1CTD_human
HgeneCNNM2C0234535Clonic Seizures1CTD_human
HgeneCNNM2C0270224Tetany, Neonatal1CTD_human
HgeneCNNM2C0270824Visual seizure1CTD_human
HgeneCNNM2C0270844Tonic Seizures1CTD_human
HgeneCNNM2C0270846Epileptic drop attack1CTD_human
HgeneCNNM2C0422850Seizures, Somatosensory1CTD_human
HgeneCNNM2C0422852Seizures, Auditory1CTD_human
HgeneCNNM2C0422853Olfactory seizure1CTD_human
HgeneCNNM2C0422854Gustatory seizure1CTD_human
HgeneCNNM2C0422855Vertiginous seizure1CTD_human
HgeneCNNM2C0494475Tonic - clonic seizures1CTD_human
HgeneCNNM2C0751056Non-epileptic convulsion1CTD_human
HgeneCNNM2C0751110Single Seizure1CTD_human
HgeneCNNM2C0751123Atonic Absence Seizures1CTD_human
HgeneCNNM2C0751494Convulsive Seizures1CTD_human
HgeneCNNM2C0751495Seizures, Focal1CTD_human
HgeneCNNM2C0751496Seizures, Sensory1CTD_human
HgeneCNNM2C0917812Tetanilla1CTD_human
HgeneCNNM2C3495874Nonepileptic Seizures1CTD_human
HgeneCNNM2C4048158Convulsions1CTD_human
HgeneCNNM2C4316903Absence Seizures1CTD_human
HgeneCNNM2C4317109Epileptic Seizures1CTD_human
HgeneCNNM2C4317123Myoclonic Seizures1CTD_human
HgeneCNNM2C4505436Generalized Absence Seizures1CTD_human
HgeneCNNM2C4510731Familial primary hypomagnesemia with normocalciuria and normocalcemia1ORPHANET
TgeneNOTCH4C0005586Bipolar Disorder4PSYGENET
TgeneNOTCH4C0036341Schizophrenia4PSYGENET
TgeneNOTCH4C0006142Malignant neoplasm of breast2CTD_human
TgeneNOTCH4C0678222Breast Carcinoma2CTD_human
TgeneNOTCH4C1257931Mammary Neoplasms, Human2CTD_human
TgeneNOTCH4C1458155Mammary Neoplasms2CTD_human
TgeneNOTCH4C4704874Mammary Carcinoma, Human2CTD_human
TgeneNOTCH4C0007114Malignant neoplasm of skin1CTD_human
TgeneNOTCH4C0007137Squamous cell carcinoma1CTD_human
TgeneNOTCH4C0037286Skin Neoplasms1CTD_human
TgeneNOTCH4C0887833Carcinoma, Pancreatic Ductal1CTD_human
TgeneNOTCH4C3544321Treatment-resistant schizophrenia1PSYGENET