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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: 42901

FusionGeneSummary for ZIC1_BBX

check button Fusion gene summary
Fusion gene informationFusion gene name: ZIC1_BBX
Fusion gene ID: 42901
HgeneTgene
Gene symbol

ZIC1

BBX

Gene ID

7545

56987

Gene nameZic family member 1BBX, HMG-box containing
SynonymsCRS6|ZIC|ZNF201ARTC1|HBP2|HSPC339|MDS001
Cytomap

3q24

3q13.12

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein ZIC 1Zic family member 1 (odd-paired homolog, Drosophila)Zinc finger protein of the cerebellum 1zinc finger protein 201HMG box transcription factor BBXAg recognized by Treg cells 1HMG box-containing protein 2bobby sox homologx 001 protein
Modification date2018052320180519
UniProtAcc

Q15915

Q8WY36

Ensembl transtripts involved in fusion geneENST00000474034, ENST00000282928, 
ENST00000415149, ENST00000402543, 
ENST00000325805, ENST00000416476, 
ENST00000406780, ENST00000473542, 
Fusion gene scores* DoF score3 X 3 X 2=1810 X 12 X 6=720
# samples 314
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(14/720*10)=-2.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZIC1 [Title/Abstract] AND BBX [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
HgeneZIC1

GO:0007420

brain development

8542595


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
TCGALDSKCMTCGA-D3-A2J8-06AZIC1chr3

147111729

+BBXchr3

107491475

+
* 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-3CDSENST00000474034ENST00000415149ZIC1chr3

147111729

+BBXchr3

107491475

+
intron-3CDSENST00000474034ENST00000402543ZIC1chr3

147111729

+BBXchr3

107491475

+
intron-3CDSENST00000474034ENST00000325805ZIC1chr3

147111729

+BBXchr3

107491475

+
intron-intronENST00000474034ENST00000416476ZIC1chr3

147111729

+BBXchr3

107491475

+
intron-intronENST00000474034ENST00000406780ZIC1chr3

147111729

+BBXchr3

107491475

+
intron-intronENST00000474034ENST00000473542ZIC1chr3

147111729

+BBXchr3

107491475

+
intron-3CDSENST00000282928ENST00000415149ZIC1chr3

147111729

+BBXchr3

107491475

+
intron-3CDSENST00000282928ENST00000402543ZIC1chr3

147111729

+BBXchr3

107491475

+
intron-3CDSENST00000282928ENST00000325805ZIC1chr3

147111729

+BBXchr3

107491475

+
intron-intronENST00000282928ENST00000416476ZIC1chr3

147111729

+BBXchr3

107491475

+
intron-intronENST00000282928ENST00000406780ZIC1chr3

147111729

+BBXchr3

107491475

+
intron-intronENST00000282928ENST00000473542ZIC1chr3

147111729

+BBXchr3

107491475

+

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FusionProtFeatures for ZIC1_BBX


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZIC1

Q15915

BBX

Q8WY36

Acts as a transcriptional activator. Involved inneurogenesis. Plays important roles in the early stage oforganogenesis of the CNS, as well as during dorsal spinal corddevelopment and maturation of the cerebellum. Involved in thespatial distribution of mossy fiber (MF) neurons within thepontine gray nucleus (PGN). Plays a role in the regulation of MFaxon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flowmechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3in the cytoplasm. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' (By similarity). {ECO:0000250|UniProtKB:P46684}. Transcription factor that is necessary for cell cycleprogression from G1 to S phase. {ECO:0000269|PubMed:11680820}.

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 ZIC1_BBX


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 ZIC1_BBX


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
ZIC1GLI1, GLI2, GLI3, SDR9C7, PLBD1, GDPD3, CTSH, S100A7, SERPINB4, CAPNS2, CPA4, PLA2G4E, RNASE7, SERPINA3, SERPINB3, CTSV, SERPINB1, CASP14, ALOX12B, TGM1, S100P, KLK7, GM2A, AZGP1, LCN2, ACPP, ECM1, HAL, IVL, GSDMA, ARG1, NCCRP1, ASAH1, IMPA2, S100A16, APOD, KPRP, SERPINB13, S100A14, S100A9, CSTA, CAPN1, ALOXE3, GAPDHBBXNEDD4L, ELAVL1, APP, HSP90AA1, HDAC1, RPA3, RPA2, RPA1, SCGN, NIFK, HIST1H2BG, APC, CDC42, RAB5C, S100A4, FOXJ2, ARIH1, H2AFY2, GPATCH4, ZNF512, RSBN1, RPL18A, MECP2, TRIM44, PPP1R15A, ZSCAN31, SPAG1, TRIM25


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 ZIC1_BBX


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 ZIC1_BBX


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneZIC1C4225269CRANIOSYNOSTOSIS 61UNIPROT