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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 7733

FusionGeneSummary for CNOT4_ENAM

check button Fusion gene summary
Fusion gene informationFusion gene name: CNOT4_ENAM
Fusion gene ID: 7733
HgeneTgene
Gene symbol

CNOT4

ENAM

Gene ID

4850

10117

Gene nameCCR4-NOT transcription complex subunit 4enamelin
SynonymsCLONE243|NOT4|NOT4HADAI|AI1C|AIH2
Cytomap

7q33

4q13.3

Type of geneprotein-codingprotein-coding
DescriptionCCR4-NOT transcription complex subunit 4CCR4-associated factor 4E3 ubiquitin-protein ligase CNOT4NOT4 (negative regulator of transcription 4, yeast) homologRING-type E3 ubiquitin transferase CNOT4potential transcriptional repressor NOT4Hpenamelinamelogenesis imperfecta 2, hypocalcification (autosomal dominant)
Modification date2018052320180523
UniProtAcc

O95628

Q9NRM1

Ensembl transtripts involved in fusion geneENST00000541284, ENST00000451834, 
ENST00000423368, ENST00000361528, 
ENST00000356162, ENST00000428680, 
ENST00000315544, ENST00000473470, 
ENST00000414802, 		ENST00000396073, 
ENST00000472903, 
Fusion gene scores* DoF score3 X 1 X 3=92 X 2 X 1=4
# samples 32
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/4*10)=2.32192809488736
Context

PubMed: CNOT4 [Title/Abstract] AND ENAM [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneCNOT4

GO:0051865

protein autoubiquitination

15001359


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-A8-A06U-01ACNOT4chr7

135194637

-ENAMchr4

71547216

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5UTR-intronENST00000541284ENST00000396073CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-3UTRENST00000541284ENST00000472903CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-intronENST00000451834ENST00000396073CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-3UTRENST00000451834ENST00000472903CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-intronENST00000423368ENST00000396073CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-3UTRENST00000423368ENST00000472903CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-intronENST00000361528ENST00000396073CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-3UTRENST00000361528ENST00000472903CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-intronENST00000356162ENST00000396073CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-3UTRENST00000356162ENST00000472903CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-intronENST00000428680ENST00000396073CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-3UTRENST00000428680ENST00000472903CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-intronENST00000315544ENST00000396073CNOT4chr7

135194637

-ENAMchr4

71547216

+
5UTR-3UTRENST00000315544ENST00000472903CNOT4chr7

135194637

-ENAMchr4

71547216

+
intron-intronENST00000473470ENST00000396073CNOT4chr7

135194637

-ENAMchr4

71547216

+
intron-3UTRENST00000473470ENST00000472903CNOT4chr7

135194637

-ENAMchr4

71547216

+
intron-intronENST00000414802ENST00000396073CNOT4chr7

135194637

-ENAMchr4

71547216

+
intron-3UTRENST00000414802ENST00000472903CNOT4chr7

135194637

-ENAMchr4

71547216

+

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FusionProtFeatures for CNOT4_ENAM


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CNOT4

O95628

ENAM

Q9NRM1

Involved in the mineralization and structuralorganization of enamel. Involved in the extension of enamel duringthe secretory stage of dental enamel formation.{ECO:0000250|UniProtKB:O97939}.

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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FusionGeneSequence for CNOT4_ENAM


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CNOT4_ENAM


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
CNOT4CNOT1, UBE2D2, UBE2D3, UBE2D4, UBE2E3, UBE2N, UBE2W, KDM5C, ELAVL1, UBE2E1, CNOT4, UBE2D1, EP300, XPO1, MCM2, RBM15ENAM


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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RelatedDrugs for CNOT4_ENAM


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CNOT4_ENAM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneENAMC0002452Amelogenesis Imperfecta2CTD_human;HPO
TgeneENAMC0399368Amelogenesis Imperfecta, Type IB2CTD_human;UNIPROT
TgeneENAMC2673923Amelogenesis Imperfecta, Type Ic2CTD_human;UNIPROT