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Fusion gene ID: 40433 |
FusionGeneSummary for UBE2H_CFH |
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Fusion gene information | Fusion gene name: UBE2H_CFH | Fusion gene ID: 40433 | Hgene | Tgene | Gene symbol | UBE2H | CFH | Gene ID | 7328 | 3075 |
Gene name | ubiquitin conjugating enzyme E2 H | complement factor H | |
Synonyms | E2-20K|GID3|UBC8|UBCH|UBCH2 | AHUS1|AMBP1|ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUS | |
Cytomap | 7q32.2 | 1q31.3 | |
Type of gene | protein-coding | protein-coding | |
Description | ubiquitin-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 E2-20Kubi | complement 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 date | 20180523 | 20180520 | |
UniProtAcc | P62256 | P08603 | |
Ensembl transtripts involved in fusion gene | ENST00000355621, ENST00000473814, | ENST00000439155, ENST00000367429, ENST00000496761, ENST00000359637, | |
Fusion gene scores | * DoF score | 6 X 8 X 4=192 | 3 X 3 X 2=18 |
# samples | 11 | 4 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | UBE2H | GO:0070936 | protein K48-linked ubiquitination | 20061386 |
Hgene | UBE2H | GO:0070979 | protein K11-linked ubiquitination | 20061386 |
Tgene | CFH | GO:0006956 | complement activation | 24835392 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | AF074645 | UBE2H | chr7 | 129577896 | + | CFH | chr1 | 196626550 | - | ||
ChiTaRS3.1 | AI110738 | UBE2H | chr7 | 129577896 | + | CFH | chr1 | 196626550 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000355621 | ENST00000439155 | UBE2H | chr7 | 129577896 | + | CFH | chr1 | 196626550 | - |
intron-intron | ENST00000355621 | ENST00000367429 | UBE2H | chr7 | 129577896 | + | CFH | chr1 | 196626550 | - |
intron-intron | ENST00000355621 | ENST00000496761 | UBE2H | chr7 | 129577896 | + | CFH | chr1 | 196626550 | - |
intron-intron | ENST00000355621 | ENST00000359637 | UBE2H | chr7 | 129577896 | + | CFH | chr1 | 196626550 | - |
intron-intron | ENST00000473814 | ENST00000439155 | UBE2H | chr7 | 129577896 | + | CFH | chr1 | 196626550 | - |
intron-intron | ENST00000473814 | ENST00000367429 | UBE2H | chr7 | 129577896 | + | CFH | chr1 | 196626550 | - |
intron-intron | ENST00000473814 | ENST00000496761 | UBE2H | chr7 | 129577896 | + | CFH | chr1 | 196626550 | - |
intron-intron | ENST00000473814 | ENST00000359637 | UBE2H | chr7 | 129577896 | + | CFH | chr1 | 196626550 | - |
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FusionProtFeatures for UBE2H_CFH |
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Hgene | Tgene |
UBE2H | CFH |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for UBE2H_CFH |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for UBE2H_CFH |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | CFH | P08603 | DB01593 | Zinc | Complement factor H | small molecule | approved|investigational |
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RelatedDiseases for UBE2H_CFH |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | UBE2H | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | UBE2H | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Tgene | CFH | C2749604 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | 10 | ORPHANET;UNIPROT |
Tgene | CFH | C0398777 | Complement Factor H Deficiency | 7 | CTD_human;ORPHANET;UNIPROT |
Tgene | CFH | C0242383 | Age related macular degeneration | 6 | CTD_human |
Tgene | CFH | C2931788 | Atypical Hemolytic Uremic Syndrome | 2 | CTD_human |
Tgene | CFH | C0017662 | Glomerulonephritis, Membranoproliferative | 1 | CTD_human |
Tgene | CFH | C0021051 | Immunologic Deficiency Syndromes | 1 | CTD_human |
Tgene | CFH | C0025303 | Meningococcal Infections | 1 | CTD_human |