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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: 7703

FusionGeneSummary for CNOT1_SMARCAD1

check button Fusion gene summary
Fusion gene informationFusion gene name: CNOT1_SMARCAD1
Fusion gene ID: 7703
HgeneTgene
Gene symbol

CNOT1

SMARCAD1

Gene ID

23019

56916

Gene nameCCR4-NOT transcription complex subunit 1SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SynonymsAD-005|CDC39|NOT1|NOT1HADERM|BASNS|ETL1|HEL1
Cytomap

16q21

4q22.3

Type of geneprotein-codingprotein-coding
DescriptionCCR4-NOT transcription complex subunit 1CCR4-associated factor 1NOT1 (negative regulator of transcription 1, yeast) homologadrenal gland protein AD-005negative regulator of transcription subunit 1 homologSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1ATP-dependent helicase 1
Modification date2018052320180519
UniProtAcc

A5YKK6

Q9H4L7

Ensembl transtripts involved in fusion geneENST00000317147, ENST00000569240, 
ENST00000441024, ENST00000569732, 
ENST00000245138, 
ENST00000457823, 
ENST00000354268, ENST00000509418, 
Fusion gene scores* DoF score14 X 9 X 10=12603 X 3 X 2=18
# samples 153
** MAII scorelog2(15/1260*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CNOT1 [Title/Abstract] AND SMARCAD1 [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
HgeneCNOT1

GO:0000122

negative regulation of transcription by RNA polymerase II

16778766

HgeneCNOT1

GO:0010606

positive regulation of cytoplasmic mRNA processing body assembly

21976065

HgeneCNOT1

GO:0017148

negative regulation of translation

24736845

HgeneCNOT1

GO:0033147

negative regulation of intracellular estrogen receptor signaling pathway

16778766

HgeneCNOT1

GO:0035195

gene silencing by miRNA

23172285|24768540

HgeneCNOT1

GO:0048387

negative regulation of retinoic acid receptor signaling pathway

16778766

HgeneCNOT1

GO:0060213

positive regulation of nuclear-transcribed mRNA poly(A) tail shortening

23644599


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
ChiTaRS3.1CN352236CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
* 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
intron-intronENST00000317147ENST00000457823CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-3UTRENST00000317147ENST00000354268CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-intronENST00000317147ENST00000509418CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-intronENST00000569240ENST00000457823CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-3UTRENST00000569240ENST00000354268CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-intronENST00000569240ENST00000509418CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-intronENST00000441024ENST00000457823CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-3UTRENST00000441024ENST00000354268CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-intronENST00000441024ENST00000509418CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-intronENST00000569732ENST00000457823CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-3UTRENST00000569732ENST00000354268CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-intronENST00000569732ENST00000509418CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-intronENST00000245138ENST00000457823CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-3UTRENST00000245138ENST00000354268CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+
intron-intronENST00000245138ENST00000509418CNOT1chr16

58590821

-SMARCAD1chr4

95212037

+

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FusionProtFeatures for CNOT1_SMARCAD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CNOT1

A5YKK6

SMARCAD1

Q9H4L7

DNA helicase that possesses intrinsic ATP-dependentnucleosome-remodeling activity and is both required for DNA repairand heterochromatin organization. Promotes DNA end resection ofdouble-strand breaks (DSBs) following DNA damage: probably acts byweakening histone DNA interactions in nucleosomes flanking DSBs.Required for the restoration of heterochromatin organization afterreplication. Acts at replication sites to facilitate themaintenance of heterochromatin by directing H3 and H4 histonesdeacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restorationof silencing. {ECO:0000269|PubMed:21549307,ECO:0000269|PubMed:22960744}.

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 CNOT1_SMARCAD1


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 CNOT1_SMARCAD1


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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RelatedDrugs for CNOT1_SMARCAD1


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 CNOT1_SMARCAD1


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