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Fusion gene ID: 26047 |
FusionGeneSummary for PARVA_ESRRB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PARVA_ESRRB | Fusion gene ID: 26047 | Hgene | Tgene | Gene symbol | PARVA | ESRRB | Gene ID | 55742 | 2103 |
| Gene name | parvin alpha | estrogen related receptor beta | |
| Synonyms | CH-ILKBP|MXRA2 | DFNB35|ERR2|ERRb|ESRL2|NR3B2 | |
| Cytomap | 11p15.3 | 14q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | alpha-parvinactopaxincalponin-like integrin-linked kinase-binding proteinmatrix-remodeling-associated protein 2 | steroid hormone receptor ERR2ERR beta-2ERR-betaERRbeta-2estrogen receptor-like 2estrogen-related nuclear receptor betanuclear receptor ERRB2nuclear receptor subfamily 3 group B member 2orphan nuclear receptor | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9NVD7 | O95718 | |
| Ensembl transtripts involved in fusion gene | ENST00000334956, ENST00000539723, ENST00000550549, ENST00000538608, ENST00000526746, | ENST00000507951, ENST00000509242, ENST00000556177, ENST00000261532, ENST00000380887, | |
| Fusion gene scores | * DoF score | 9 X 6 X 5=270 | 3 X 3 X 3=27 |
| # samples | 9 | 3 | |
| ** MAII score | log2(9/270*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PARVA [Title/Abstract] AND ESRRB [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | ESRRB | GO:0006355 | regulation of transcription, DNA-templated | 23836911 |
| Tgene | ESRRB | GO:0019827 | stem cell population maintenance | 25522312 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | PRAD | TCGA-VP-A875-01A | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-3UTR | ENST00000334956 | ENST00000507951 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-5UTR | ENST00000334956 | ENST00000509242 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-5UTR | ENST00000334956 | ENST00000556177 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-5UTR | ENST00000334956 | ENST00000261532 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-5UTR | ENST00000334956 | ENST00000380887 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-3UTR | ENST00000539723 | ENST00000507951 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-5UTR | ENST00000539723 | ENST00000509242 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-5UTR | ENST00000539723 | ENST00000556177 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-5UTR | ENST00000539723 | ENST00000261532 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-5UTR | ENST00000539723 | ENST00000380887 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-3UTR | ENST00000550549 | ENST00000507951 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-5UTR | ENST00000550549 | ENST00000509242 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-5UTR | ENST00000550549 | ENST00000556177 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-5UTR | ENST00000550549 | ENST00000261532 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| 5CDS-5UTR | ENST00000550549 | ENST00000380887 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| intron-3UTR | ENST00000538608 | ENST00000507951 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| intron-5UTR | ENST00000538608 | ENST00000509242 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| intron-5UTR | ENST00000538608 | ENST00000556177 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| intron-5UTR | ENST00000538608 | ENST00000261532 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| intron-5UTR | ENST00000538608 | ENST00000380887 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| intron-3UTR | ENST00000526746 | ENST00000507951 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| intron-5UTR | ENST00000526746 | ENST00000509242 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| intron-5UTR | ENST00000526746 | ENST00000556177 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| intron-5UTR | ENST00000526746 | ENST00000261532 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
| intron-5UTR | ENST00000526746 | ENST00000380887 | PARVA | chr11 | 12399330 | + | ESRRB | chr14 | 76905684 | + |
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FusionProtFeatures for PARVA_ESRRB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PARVA | ESRRB |
| Plays a role in sarcomere organization and in smoothmuscle cell contraction. Required for normal development of theembryonic cardiovascular system, and for normal septation of theheart outflow tract. Plays a role in sprouting angiogenesis and isrequired for normal adhesion of vascular smooth muscle cells toendothelial cells during blood vessel development (By similarity).Plays a role in the reorganization of the actin cytoskeleton,formation of lamellipodia and ciliogenesis. Plays a role in theestablishement of cell polarity, cell adhesion, cell spreading,and directed cell migration. {ECO:0000250,ECO:0000269|PubMed:11134073, ECO:0000269|PubMed:11331308,ECO:0000269|PubMed:15284246, ECO:0000269|PubMed:20393563}. | Isoform 3: Transcription factor that binds a canonicalESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized onpromoter and enhancer of targets genes regulating their expressionor their transcription activity (PubMed:17920186,PubMed:19755138). Plays a role, in a LIF-independent manner, inmaintainance of self-renewal and pluripotency of embryonic andtrophoblast stem cells through different signaling pathwaysincluding FGF signaling pathway and Wnt signaling pathways. UponFGF signaling pathway activation, interacts with KDM1A by directlybinding to enhancer site of ELF5 and EOMES and activating theirtranscription leading to self-renewal of trophoblast stem cells.Also regulates expression of multiple rod-specific genes and isrequired for survival of this cell type (By similarity). Plays arole as transcription factor activator of GATA6, NR0B1, POU5F1 andPERM1 (PubMed:23836911). Plays a role as transcription factorrepressor of NFE2L2 transcriptional activity and ESR1transcriptional activity (PubMed:17920186, PubMed:19755138).During mitosis remains bound to a subset of interphase targetgenes, including pluripotency regulators, through the canonicalESRRB recognition (ERRE) sequence, leading to theirtranscriptional activation in early G1 phase. Can coassemble onstructured DNA elements with other transcription factors likeSOX2, POU5F1, KDM1A and NCOA3 to trigger ESRRB-dependent geneactivation. This mechanism, in the case of SOX2 corecruitmentprevents the embryonic stem cells (ESCs) to epiblast stem cells(EpiSC) transition through positive regulation of NR0B1 thatinhibits the EpiSC transcriptional program. Also plays a roleinner ear development by controlling expression of ion channelsand transporters and in early placentation (By similarity).{ECO:0000250|UniProtKB:Q61539, ECO:0000269|PubMed:17920186,ECO:0000269|PubMed:19755138, ECO:0000269|PubMed:23836911}. Isoform 1: Transcription factor that binds a canonicalESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized onpromoter and enhancer of targets genes regulating their expressionor their transcription activity. Positively regaulate ESR1transcriptional activity upon E2 stimulation.{ECO:0000269|PubMed:19755138}. |
| Retention 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 . * 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 PARVA_ESRRB |
| 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 PARVA_ESRRB |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| PARVA | ILK, DHX36, UBE3A, ELAVL1, APP, MLH1, SOX2, HSPH1, CARM1, CORO1B, CRMP1, OSBP, OTUD6B, PPAT, TBC1D17, UGP2, ZRANB2, RSU1, SEC24C, MOCOS, LIMS1, PARVB, IQGAP1, VPS11, GCA, DDX47, CHMP2A, CMTR2, DDX17, DPH5, HSPB2, UBQLN1, SNW1, CDC5L, CDH1, LPXN, CCNB1 | ESRRB | NCOA3, NCOA2, NRIP1, SP1, PARK2, HSP90AA1, HSP90AB1, YWHAQ, PPP2R1A, SLC3A2, ACSL3, SLC25A5, SLC25A6, ANXA2, ATP1A1, ATP2A2, ATP2A3, ATAD3A, ATP5A1, ATP5C1, CANX, CDC37, HSPD1, DHCR7, DNAJC10, DNAJA1, DNAJA2, DNAJB2, DNAJB6, DNAJB8, EEF1A1, EEF1A2, EEF1A1P5, TUFM, EGFR, ERBB2, KDELR2, ERRFI1, GAPDH, GNB1, GNB2, GNB3, GNB4, GFAP, GRB2, HSPA9, HSPA5, PTPLAD1, HNRNPH1, HNRNPH2, HNRNPF, HSPA1A, HSPA8, LRPPRC, MGST1, SLC25A3, NDUFA4, PHB, PHB2, PKDREJ, PKP2, PPP2CA, PPP2CB, RPL23, RPS14, RPS16, RPS2, RPS27, RPS27A, RPS27L, RPS3, S100A14, S100A16, SLC39A7, SEC61A1, SGPL1, SLIRP, SPTBN4, SSR1, TUBA1B, TUBA1C, TUBB, TFRC, THEM6, TIMM21, TIMM50, TMEM33, TNFAIP2, SLC25A1, UBASH3B, VAPA, VAPB |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PARVA_ESRRB |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | ESRRB | O95718 | DB00255 | Diethylstilbestrol | Steroid hormone receptor ERR2 {ECO:0000305} | small molecule | approved|investigational |
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RelatedDiseases for PARVA_ESRRB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PARVA | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Tgene | ESRRB | C1837857 | DEAFNESS, AUTOSOMAL RECESSIVE 35 | 1 | CTD_human;UNIPROT |
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