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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: 6196

FusionGeneSummary for CD46_ZNF93

check button Fusion gene summary
Fusion gene informationFusion gene name: CD46_ZNF93
Fusion gene ID: 6196
HgeneTgene
Gene symbol

CD46

ZNF93

Gene ID

4179

81931

Gene nameCD46 moleculezinc finger protein 93
SynonymsAHUS2|MCP|MIC10|TLX|TRA2.10HPF34|HTF34|TF34|ZNF505
Cytomap

1q32.2

19p12

Type of geneprotein-codingprotein-coding
Descriptionmembrane cofactor proteinCD46 antigen, complement regulatory proteinCD46 molecule, complement regulatory proteinantigen identified by monoclonal antibody TRA-2-10complement membrane cofactor proteinmeasles virus receptormembrane cofactor protein (CDzinc finger protein 93zinc finger protein 505zinc finger protein HTF34
Modification date2018052420180522
UniProtAcc

P15529

P35789

Ensembl transtripts involved in fusion geneENST00000367042, ENST00000354848, 
ENST00000441839, ENST00000322875, 
ENST00000367041, ENST00000358170, 
ENST00000322918, ENST00000361067, 
ENST00000367047, ENST00000357714, 
ENST00000469535, ENST00000360212, 
ENST00000480003, 
ENST00000592613, 
ENST00000591366, ENST00000592160, 
ENST00000343769, 
Fusion gene scores* DoF score5 X 5 X 3=753 X 2 X 3=18
# samples 53
** MAII scorelog2(5/75*10)=-0.584962500721156
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: CD46 [Title/Abstract] AND ZNF93 [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
HgeneCD46

GO:0008593

regulation of Notch signaling pathway

23086448

HgeneCD46

GO:0010629

negative regulation of gene expression

23086448

HgeneCD46

GO:0032613

interleukin-10 production

23086448

HgeneCD46

GO:0032733

positive regulation of interleukin-10 production

12540904

HgeneCD46

GO:0035581

sequestering of extracellular ligand from receptor

23086448

HgeneCD46

GO:0042102

positive regulation of T cell proliferation

12540904

HgeneCD46

GO:0043382

positive regulation of memory T cell differentiation

12540904

HgeneCD46

GO:0045591

positive regulation of regulatory T cell differentiation

12540904

HgeneCD46

GO:0071636

positive regulation of transforming growth factor beta production

12540904

TgeneZNF93

GO:0045892

negative regulation of transcription, DNA-templated

25274305

TgeneZNF93

GO:0070895

negative regulation of transposon integration

25274305


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
ChiTaRS3.1DA732859CD46chr1

207930512

+ZNF93chr19

20044292

+
* 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-intronENST00000367042ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000367042ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000367042ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000367042ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000354848ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000354848ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000354848ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000354848ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000441839ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000441839ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000441839ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000441839ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000322875ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000322875ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000322875ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000322875ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000367041ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000367041ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000367041ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000367041ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000358170ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000358170ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000358170ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000358170ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000322918ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000322918ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000322918ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000322918ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000361067ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000361067ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000361067ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000361067ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+
intron-intronENST00000367047ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
intron-intronENST00000367047ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
intron-intronENST00000367047ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
intron-intronENST00000367047ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000357714ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000357714ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000357714ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000357714ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+
3UTR-intronENST00000469535ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
3UTR-intronENST00000469535ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
3UTR-intronENST00000469535ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
3UTR-intronENST00000469535ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000360212ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000360212ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000360212ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000360212ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000480003ENST00000592613CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000480003ENST00000591366CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000480003ENST00000592160CD46chr1

207930512

+ZNF93chr19

20044292

+
5CDS-intronENST00000480003ENST00000343769CD46chr1

207930512

+ZNF93chr19

20044292

+

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FusionProtFeatures for CD46_ZNF93


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD46

P15529

ZNF93

P35789

Transcription factor specifically required to represslong interspersed nuclear element 1 (L1) retrotransposons:recognizes and binds L1 sequences and repress their expression byrecruiting a repressive complex containing TRIM28/KAP1(PubMed:25274305). Not able to repress expression of all subtypesof L1 elements. Binds to the 5' end of L1PA4, L1PA5 and L1PA6subtypes, and some L1PA3 subtypes. Does not bind to L1PA7 or oldersubtypes nor at the most recently evolved L1PA2 and L1Hs. 50% ofL1PA3 elements have lost the ZNF93-binding site, explaining whyZNF93 is not able to repress their expression (PubMed:25274305).{ECO:0000269|PubMed:25274305}.

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 CD46_ZNF93


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 CD46_ZNF93


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 CD46_ZNF93


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 CD46_ZNF93


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD46C2752040HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 24ORPHANET;UNIPROT
HgeneCD46C0025007Measles1CTD_human
HgeneCD46C2931788Atypical Hemolytic Uremic Syndrome1CTD_human