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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: 26198

FusionGeneSummary for PCDH9_CNOT2

check button Fusion gene summary
Fusion gene informationFusion gene name: PCDH9_CNOT2
Fusion gene ID: 26198
HgeneTgene
Gene symbol

PCDH9

CNOT2

Gene ID

5101

4848

Gene nameprotocadherin 9CCR4-NOT transcription complex subunit 2
Synonyms-CDC36|HSPC131|NOT2|NOT2H
Cytomap

13q21.32

12q15

Type of geneprotein-codingprotein-coding
Descriptionprotocadherin-9cadherin superfamily protein VR4-11CCR4-NOT transcription complex subunit 2CCR4-associated factor 2negative regulator of transcription 2
Modification date2018052720180523
UniProtAcc

Q9HC56

Q9NZN8

Ensembl transtripts involved in fusion geneENST00000544246, ENST00000377865, 
ENST00000456367, ENST00000328454, 
ENST00000377861, 
ENST00000229195, 
ENST00000418359, ENST00000548230, 
ENST00000551483, 
Fusion gene scores* DoF score3 X 3 X 1=914 X 9 X 5=630
# samples 311
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(11/630*10)=-2.51784830486262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PCDH9 [Title/Abstract] AND CNOT2 [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
TgeneCNOT2

GO:0000122

negative regulation of transcription by RNA polymerase II

14707134|16712523


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
ChiTaRS3.1BC008476PCDH9chr13

67748432

-CNOT2chr12

70677266

+
* 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-intronENST00000544246ENST00000229195PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000544246ENST00000418359PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000544246ENST00000548230PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000544246ENST00000551483PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000377865ENST00000229195PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000377865ENST00000418359PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000377865ENST00000548230PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000377865ENST00000551483PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000456367ENST00000229195PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000456367ENST00000418359PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000456367ENST00000548230PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000456367ENST00000551483PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000328454ENST00000229195PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000328454ENST00000418359PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000328454ENST00000548230PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000328454ENST00000551483PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000377861ENST00000229195PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000377861ENST00000418359PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000377861ENST00000548230PCDH9chr13

67748432

-CNOT2chr12

70677266

+
intron-intronENST00000377861ENST00000551483PCDH9chr13

67748432

-CNOT2chr12

70677266

+

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FusionProtFeatures for PCDH9_CNOT2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PCDH9

Q9HC56

CNOT2

Q9NZN8

Potential calcium-dependent cell-adhesion protein. Component of the CCR4-NOT complex which is one of themajor cellular mRNA deadenylases and is linked to various cellularprocesses including bulk mRNA degradation, miRNA-mediatedrepression, translational repression during translationalinitiation and general transcription regulation. Additionalcomplex functions may be a consequence of its influence on mRNAexpression. Required for the CCR4-NOT complex structuralintegrity. Can repress transcription and may link the CCR4-NOTcomplex to transcriptional regulation; the repressive function mayspecifically involve the N-Cor repressor complex containing HDAC3,NCOR1 and NCOR2. Involved in the maintenance of emryonic stem (ES)cell identity. {ECO:0000269|PubMed:14707134,ECO:0000269|PubMed:16712523, ECO:0000269|PubMed:21299754,ECO:0000269|PubMed:22367759}.

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 PCDH9_CNOT2


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 PCDH9_CNOT2


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 PCDH9_CNOT2


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 PCDH9_CNOT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePCDH9C1510586Autism Spectrum Disorders1CTD_human