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Fusion gene ID: 40944 |
FusionGeneSummary for USH2A_EPC2 |
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Fusion gene information | Fusion gene name: USH2A_EPC2 | Fusion gene ID: 40944 | Hgene | Tgene | Gene symbol | USH2A | EPC2 | Gene ID | 7399 | 26122 |
Gene name | usherin | enhancer of polycomb homolog 2 | |
Synonyms | RP39|US2|USH2|dJ1111A8.1 | EPC-LIKE | |
Cytomap | 1q41 | 2q23.1 | |
Type of gene | protein-coding | protein-coding | |
Description | usherinUsher syndrome 2A (autosomal recessive, mild)usher syndrome type IIa proteinusher syndrome type-2A protein | enhancer of polycomb homolog 2 | |
Modification date | 20180520 | 20180523 | |
UniProtAcc | O75445 | Q52LR7 | |
Ensembl transtripts involved in fusion gene | ENST00000366943, ENST00000307340, ENST00000366942, | ENST00000258484, ENST00000409654, | |
Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 11 X 10 X 2=220 |
# samples | 3 | 12 | |
** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(12/220*10)=-0.874469117916141 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: USH2A [Title/Abstract] AND EPC2 [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 |
![]() (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 | BE829017 | USH2A | chr1 | 216582511 | - | EPC2 | chr2 | 149519494 | - |
* 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 | ENST00000366943 | ENST00000258484 | USH2A | chr1 | 216582511 | - | EPC2 | chr2 | 149519494 | - |
intron-intron | ENST00000366943 | ENST00000409654 | USH2A | chr1 | 216582511 | - | EPC2 | chr2 | 149519494 | - |
intron-intron | ENST00000307340 | ENST00000258484 | USH2A | chr1 | 216582511 | - | EPC2 | chr2 | 149519494 | - |
intron-intron | ENST00000307340 | ENST00000409654 | USH2A | chr1 | 216582511 | - | EPC2 | chr2 | 149519494 | - |
intron-intron | ENST00000366942 | ENST00000258484 | USH2A | chr1 | 216582511 | - | EPC2 | chr2 | 149519494 | - |
intron-intron | ENST00000366942 | ENST00000409654 | USH2A | chr1 | 216582511 | - | EPC2 | chr2 | 149519494 | - |
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FusionProtFeatures for USH2A_EPC2 |
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Hgene | Tgene |
USH2A | EPC2 |
Involved in hearing and vision. | May play a role in transcription or DNA repair.{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 USH2A_EPC2 |
![]() (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 USH2A_EPC2 |
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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 USH2A_EPC2 |
![]() (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 USH2A_EPC2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | USH2A | C1848634 | USHER SYNDROME, TYPE IIA | 24 | CTD_human;UNIPROT |
Hgene | USH2A | C3151138 | RETINITIS PIGMENTOSA 39 (disorder) | 12 | UNIPROT |
Hgene | USH2A | C0035334 | Retinitis Pigmentosa | 3 | CTD_human;HPO;ORPHANET |