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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: 33658

FusionGeneSummary for SH3GL1_ZIC1

check button Fusion gene summary
Fusion gene informationFusion gene name: SH3GL1_ZIC1
Fusion gene ID: 33658
HgeneTgene
Gene symbol

SH3GL1

ZIC1

Gene ID

6455

7545

Gene nameSH3 domain containing GRB2 like 1, endophilin A2Zic family member 1
SynonymsCNSA1|EEN|SH3D2B|SH3P8CRS6|ZIC|ZNF201
Cytomap

19p13.3

3q24

Type of geneprotein-codingprotein-coding
Descriptionendophilin-A2EEN fusion partner of MLLSH3 domain protein 2BSH3 domain-containing GRB2-like protein 1SH3-containing Grb-2-like 1 proteinSH3-domain GRB2-like 1endophilin-2extra 11-19 leukemia fusionextra eleven-nineteen leukemia fusion gene proteinzinc finger protein ZIC 1Zic family member 1 (odd-paired homolog, Drosophila)Zinc finger protein of the cerebellum 1zinc finger protein 201
Modification date2018052220180523
UniProtAcc

Q99961

Q15915

Ensembl transtripts involved in fusion geneENST00000269886, ENST00000598564, 
ENST00000417295, 
ENST00000474034, 
ENST00000282928, 
Fusion gene scores* DoF score12 X 5 X 10=6003 X 3 X 3=27
# samples 123
** MAII scorelog2(12/600*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SH3GL1 [Title/Abstract] AND ZIC1 [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
TgeneZIC1

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
TCGALDSARCTCGA-KD-A5QS-01ASH3GL1chr19

4400321

-ZIC1chr3

147130305

+
* 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
5CDS-intronENST00000269886ENST00000474034SH3GL1chr19

4400321

-ZIC1chr3

147130305

+
5CDS-intronENST00000269886ENST00000282928SH3GL1chr19

4400321

-ZIC1chr3

147130305

+
5CDS-intronENST00000598564ENST00000474034SH3GL1chr19

4400321

-ZIC1chr3

147130305

+
5CDS-intronENST00000598564ENST00000282928SH3GL1chr19

4400321

-ZIC1chr3

147130305

+
5CDS-intronENST00000417295ENST00000474034SH3GL1chr19

4400321

-ZIC1chr3

147130305

+
5CDS-intronENST00000417295ENST00000282928SH3GL1chr19

4400321

-ZIC1chr3

147130305

+

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FusionProtFeatures for SH3GL1_ZIC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SH3GL1

Q99961

ZIC1

Q15915

Implicated in endocytosis. May recruit other proteins tomembranes with high curvature (By similarity). {ECO:0000250}. 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}.

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 SH3GL1_ZIC1


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 SH3GL1_ZIC1


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
SH3GL1SH3GL1, SH2D4A, DPPA4, SH3GL3, DNM1, CREBBP, PRMT1, KHDRBS1, YWHAZ, DPYSL4, SEPT8, SH3GL2, PTPRO, VIM, ITSN2, PDCD6IP, SYNJ1, LRRK2, PML, B3GAT1, AARSD1, ACTR3, ARPC2, FUBP1, RPA1, ACTR2, ANP32B, ARPC1A, ARPC4, ARPC5, ARPC5L, BAG1, CALR, CALU, CRTAP, GTF2E1, GTF2F2, KIAA1279, LAP3, NIF3L1, NSUN2, PFDN1, PFDN5, PRKACA, TRMT10A, SH3GLB2, THG1L, TP53RK, TPRKB, TTC1, SH3GLB1, DNM1L, MTA1, GPKOW, VPS37C, MAL2, FAM102A, AZU1, CCDC101, ARHGAP8, AURKA, EWSR1, NF2, POU5F1, CALM1, CDH1, TPTE2, C8G, GPX7, IMPDH1, FBXO32ZIC1GLI1, 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, GAPDH


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 SH3GL1_ZIC1


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 SH3GL1_ZIC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneZIC1C4225269CRANIOSYNOSTOSIS 61UNIPROT