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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: 40433

FusionGeneSummary for UBE2H_CFH

check button Fusion gene summary
Fusion gene informationFusion gene name: UBE2H_CFH
Fusion gene ID: 40433
HgeneTgene
Gene symbol

UBE2H

CFH

Gene ID

7328

3075

Gene nameubiquitin conjugating enzyme E2 Hcomplement factor H
SynonymsE2-20K|GID3|UBC8|UBCH|UBCH2AHUS1|AMBP1|ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUS
Cytomap

7q32.2

1q31.3

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-conjugating enzyme E2 H(E3-independent) E2 ubiquitin-conjugating enzyme HE2 ubiquitin-conjugating enzyme HGID complex subunit 3, UBC8 homologubiquitin carrier protein Hubiquitin conjugating enzyme E2Hubiquitin-conjugating enzyme E2-20Kubicomplement factor HH factor 1 (complement)H factor 2 (complement)adrenomedullin binding proteinage-related maculopathy susceptibility 1beta-1-H-globulinbeta-1Hfactor Hfactor H-like 1
Modification date2018052320180520
UniProtAcc

P62256

P08603

Ensembl transtripts involved in fusion geneENST00000355621, ENST00000473814, 
ENST00000439155, ENST00000367429, 
ENST00000496761, ENST00000359637, 
Fusion gene scores* DoF score6 X 8 X 4=1923 X 3 X 2=18
# samples 114
** MAII scorelog2(11/192*10)=-0.803602787196497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: UBE2H [Title/Abstract] AND CFH [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
HgeneUBE2H

GO:0070936

protein K48-linked ubiquitination

20061386

HgeneUBE2H

GO:0070979

protein K11-linked ubiquitination

20061386

TgeneCFH

GO:0006956

complement activation

24835392


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
ChiTaRS3.1AF074645UBE2Hchr7

129577896

+CFHchr1

196626550

-
ChiTaRS3.1AI110738UBE2Hchr7

129577896

+CFHchr1

196626550

-
* 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-intronENST00000355621ENST00000439155UBE2Hchr7

129577896

+CFHchr1

196626550

-
intron-intronENST00000355621ENST00000367429UBE2Hchr7

129577896

+CFHchr1

196626550

-
intron-intronENST00000355621ENST00000496761UBE2Hchr7

129577896

+CFHchr1

196626550

-
intron-intronENST00000355621ENST00000359637UBE2Hchr7

129577896

+CFHchr1

196626550

-
intron-intronENST00000473814ENST00000439155UBE2Hchr7

129577896

+CFHchr1

196626550

-
intron-intronENST00000473814ENST00000367429UBE2Hchr7

129577896

+CFHchr1

196626550

-
intron-intronENST00000473814ENST00000496761UBE2Hchr7

129577896

+CFHchr1

196626550

-
intron-intronENST00000473814ENST00000359637UBE2Hchr7

129577896

+CFHchr1

196626550

-

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FusionProtFeatures for UBE2H_CFH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBE2H

P62256

CFH

P08603

Accepts ubiquitin from the E1 complex and catalyzes itscovalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Capable, in vitro, toubiquitinate histone H2A. {ECO:0000269|PubMed:20061386,ECO:0000269|PubMed:8132613}.

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 UBE2H_CFH


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 UBE2H_CFH


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 UBE2H_CFH


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCFHP08603DB01593ZincComplement factor Hsmall moleculeapproved|investigational

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RelatedDiseases for UBE2H_CFH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUBE2HC0004352Autistic Disorder1CTD_human
HgeneUBE2HC0032460Polycystic Ovary Syndrome1CTD_human
TgeneCFHC2749604HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 110ORPHANET;UNIPROT
TgeneCFHC0398777Complement Factor H Deficiency7CTD_human;ORPHANET;UNIPROT
TgeneCFHC0242383Age related macular degeneration6CTD_human
TgeneCFHC2931788Atypical Hemolytic Uremic Syndrome2CTD_human
TgeneCFHC0017662Glomerulonephritis, Membranoproliferative1CTD_human
TgeneCFHC0021051Immunologic Deficiency Syndromes1CTD_human
TgeneCFHC0025303Meningococcal Infections1CTD_human