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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: 32447

FusionGeneSummary for RYBP_CNTN4

check button Fusion gene summary
Fusion gene informationFusion gene name: RYBP_CNTN4
Fusion gene ID: 32447
HgeneTgene
Gene symbol

RYBP

CNTN4

Gene ID

23429

152330

Gene nameRING1 and YY1 binding proteincontactin 4
SynonymsAAP1|APAP-1|DEDAF|YEAF1AXCAM|BIG-2
Cytomap

3p13

3p26.3-p26.2

Type of geneprotein-codingprotein-coding
DescriptionRING1 and YY1-binding proteinDED-associated factorYY1 and E4TF1 associated factor 1apoptin-associating protein 1death effector domain-associated factorring1 interactor RYBPcontactin-4axonal-associated cell adhesion moleculebrain-derived immunoglobulin superfamily protein 2neural cell adhesion protein BIG-2
Modification date2018051920180522
UniProtAcc

Q8N488

Q8IWV2

Ensembl transtripts involved in fusion geneENST00000477973, ENST00000418658, 
ENST00000397461, ENST00000427331, 
ENST00000358480, ENST00000397459, 
ENST00000448906, ENST00000475817, 
Fusion gene scores* DoF score6 X 2 X 5=605 X 5 X 3=75
# samples 75
** MAII scorelog2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RYBP [Title/Abstract] AND CNTN4 [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
HgeneRYBP

GO:0035518

histone H2A monoubiquitination

16943429


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
TCGARVPRADTCGA-G9-6339-01ARYBPchr3

72495647

-CNTN4chr3

2777899

+
* 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
Frame-shitENST00000477973ENST00000418658RYBPchr3

72495647

-CNTN4chr3

2777899

+
Frame-shitENST00000477973ENST00000397461RYBPchr3

72495647

-CNTN4chr3

2777899

+
Frame-shitENST00000477973ENST00000427331RYBPchr3

72495647

-CNTN4chr3

2777899

+
5CDS-intronENST00000477973ENST00000358480RYBPchr3

72495647

-CNTN4chr3

2777899

+
5CDS-intronENST00000477973ENST00000397459RYBPchr3

72495647

-CNTN4chr3

2777899

+
5CDS-intronENST00000477973ENST00000448906RYBPchr3

72495647

-CNTN4chr3

2777899

+
5CDS-intronENST00000477973ENST00000475817RYBPchr3

72495647

-CNTN4chr3

2777899

+

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FusionProtFeatures for RYBP_CNTN4


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

Q8N488

CNTN4

Q8IWV2

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1-like complex acts viachromatin remodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility (PubMed:25519132).Component of a PRC1-like complex that mediates monoubiquitinationof histone H2A 'Lys-119' on the X chromosome and is required fornormal silencing of one copy of the X chromosome in XX females.May stimulate ubiquitination of histone H2A 'Lys-119' byrecruiting the complex to target sites (By similarity). Inhibitsubiquitination and subsequent degradation of TP53, and therebyplays a role in regulating transcription of TP53 target genes(PubMed:19098711). May also regulate the ubiquitin-mediatedproteasomal degradation of other proteins like FANK1 to regulateapoptosis (PubMed:14765135, PubMed:27060496). May be implicated inthe regulation of the transcription as a repressor of thetranscriptional activity of E4TF1 (PubMed:11953439). May bind toDNA (By similarity). {ECO:0000250|UniProtKB:Q8CCI5,ECO:0000269|PubMed:11953439, ECO:0000269|PubMed:14765135,ECO:0000269|PubMed:19098711, ECO:0000269|PubMed:27060496}. Contactins mediate cell surface interactions duringnervous system development. Has some neurite outgrowth-promotingactivity. May be involved in synaptogenesis.

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 RYBP_CNTN4


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 RYBP_CNTN4


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
RYBPE2F6, RING1, CBX2, YY1, E2F2, E2F3, E2F4, CASP10, FADD, ABL1, MDM2, TP53, BCOR, PCGF1, RNF2, SOCS2, ZFP42, ELAVL1, PCGF2, PCGF3, BMI1, PCGF5, PCGF6, L3MBTL2, CBX3, TFDP1, WDR5, MGA, SKP1, BCORL1, KDM2B, USP7, FBRS, FBRSL1, CSNK2A1, CSNK2A2, CSNK2B, GABPB1, GABPB2, EED, MORC4, ATF7IP, HERC2, AUTS2, HSPB1, CRK, NOS1AP, MAPK8IP2, FANK1, DDX5, CASP8, MLLT1, YAF2, TFDP2, HDAC1, DCAF7, TRIM25CNTN4COPS5, BARD1, BRCA1, BAG3


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 RYBP_CNTN4


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 RYBP_CNTN4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCNTN4C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneCNTN4C0004352Autistic Disorder1CTD_human
TgeneCNTN4C0005586Bipolar Disorder1PSYGENET
TgeneCNTN4C0008073Developmental Disabilities1CTD_human
TgeneCNTN4C0018273Growth Disorders1CTD_human
TgeneCNTN4C0376634Craniofacial Abnormalities1CTD_human