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Fusion gene ID: 40434 |
FusionGeneSummary for UBE2H_LMX1A |
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Fusion gene information | Fusion gene name: UBE2H_LMX1A | Fusion gene ID: 40434 | Hgene | Tgene | Gene symbol | UBE2H | LMX1A | Gene ID | 7328 | 4009 |
Gene name | ubiquitin conjugating enzyme E2 H | LIM homeobox transcription factor 1 alpha | |
Synonyms | E2-20K|GID3|UBC8|UBCH|UBCH2 | LMX1|LMX1.1 | |
Cytomap | 7q32.2 | 1q23.3 | |
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 | LIM homeobox transcription factor 1-alphaLIM/homeobox protein 1.1 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P62256 | Q8TE12 | |
Ensembl transtripts involved in fusion gene | ENST00000355621, ENST00000473814, | ENST00000342310, ENST00000294816, ENST00000367893, ENST00000489443, | |
Fusion gene scores | * DoF score | 6 X 8 X 4=192 | 3 X 2 X 2=12 |
# samples | 11 | 3 | |
** MAII score | log2(11/192*10)=-0.803602787196497 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: UBE2H [Title/Abstract] AND LMX1A [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 |
![]() (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 |
TCGA | RV | SARC | TCGA-DX-A6BH-01A | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
* 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-3CDS | ENST00000355621 | ENST00000342310 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
intron-3CDS | ENST00000355621 | ENST00000294816 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
intron-3CDS | ENST00000355621 | ENST00000367893 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
intron-intron | ENST00000355621 | ENST00000489443 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
intron-3CDS | ENST00000473814 | ENST00000342310 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
intron-3CDS | ENST00000473814 | ENST00000294816 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
intron-3CDS | ENST00000473814 | ENST00000367893 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
intron-intron | ENST00000473814 | ENST00000489443 | UBE2H | chr7 | 129588799 | - | LMX1A | chr1 | 165183050 | - |
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FusionProtFeatures for UBE2H_LMX1A |
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Hgene | Tgene |
UBE2H | LMX1A |
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}. | Acts as a transcriptional activator by binding to anA/T-rich sequence, the FLAT element, in the insulin gene promoter.Required for development of the roof plate and, in turn, forspecification of dorsal cell fates in the CNS and developingvertebrae (By similarity). {ECO:0000250}. |
![]() * 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_LMX1A |
![]() (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_LMX1A |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
UBE2H | RNF216, STAM2, EPS15, POLM, POLL, HDAC6, UBASH3B, RNF103, NEURL1, RNF186, TRIM56, UBOX5, DZIP3, RNF34, TRIM27, RNF4, TRAIP, TRIM36, DTX3, RNF114, BRAP, LRSAM1, CBLC, DTX3L, MKRN3, TRIM23, RNF10, RNF113B, RNF133, RNF139, RNF144A, RNF146, RNF166, RNF185, MARCH10, RNF2, RNF38, RNF6, TRIM17, TRIM2, TRIM37, TRIM5, ELAVL1, HDAC2, RELA, CD99, TRIM28, UBR2, TRIM21, RNF128, RAG1, SEC23IP, LACTB2, TXNDC17, TXNL1, UBA3, UBAP2L, SSU72, THOP1, PRDX1, PRDX2, USP5, UFC1, TRIM72, ANXA6, IDH1, MTAP, GOT1, MARCH1, MARCH2, MARCH4, MARCH8, PTK2, UBA1, UBE2H, NHLRC1, JADE1, BYSL, UBR3, TRIM69, CDK2, WDR26, ARMC8, RMND5B | LMX1A | TCF3, LMX1A, ISL1, LHX3, GRB2 |
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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_LMX1A |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for UBE2H_LMX1A |
![]() (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 | LMX1A | C0036341 | Schizophrenia | 1 | PSYGENET |