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Fusion gene ID: 30632 |
FusionGeneSummary for RBBP7_NDUFAF4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RBBP7_NDUFAF4 | Fusion gene ID: 30632 | Hgene | Tgene | Gene symbol | RBBP7 | NDUFAF4 | Gene ID | 5931 | 29078 |
| Gene name | RB binding protein 7, chromatin remodeling factor | NADH:ubiquinone oxidoreductase complex assembly factor 4 | |
| Synonyms | RbAp46 | C6orf66|HRPAP20|HSPC125|My013|bA22L21.1 | |
| Cytomap | Xp22.2 | 6q16.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone-binding protein RBBP7G1/S transition control protein-binding protein RbAp46RBBP-7histone acetyltransferase type B subunit 2nucleosome-remodeling factor subunit RBAP46retinoblastoma-binding protein 7retinoblastoma-binding protein RbAp46retin | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4NADH dehydrogenase (ubiquinone) complex I, assembly factor 4hormone-regulated proliferation-associated protein of 2 | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q16576 | Q9P032 | |
| Ensembl transtripts involved in fusion gene | ENST00000380087, ENST00000380084, ENST00000404022, | ENST00000316149, ENST00000489477, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 4 X 3 X 3=36 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RBBP7 [Title/Abstract] AND NDUFAF4 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| Hgene | RBBP7 | GO:0030308 | negative regulation of cell growth | 9765217 |
| Hgene | RBBP7 | GO:0070370 | cellular heat acclimation | 7503932 |
| 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 | SARC | TCGA-DX-A240-01A | RBBP7 | chrX | 16888161 | - | NDUFAF4 | chr6 | 97344723 | - |
| TCGA | LD | SARC | TCGA-DX-A240-01A | RBBP7 | chrX | 16887199 | - | NDUFAF4 | chr6 | 97344723 | - |
| * 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 |
| Frame-shift | ENST00000380087 | ENST00000316149 | RBBP7 | chrX | 16888161 | - | NDUFAF4 | chr6 | 97344723 | - |
| 5CDS-5UTR | ENST00000380087 | ENST00000489477 | RBBP7 | chrX | 16888161 | - | NDUFAF4 | chr6 | 97344723 | - |
| intron-3CDS | ENST00000380084 | ENST00000316149 | RBBP7 | chrX | 16888161 | - | NDUFAF4 | chr6 | 97344723 | - |
| intron-5UTR | ENST00000380084 | ENST00000489477 | RBBP7 | chrX | 16888161 | - | NDUFAF4 | chr6 | 97344723 | - |
| Frame-shift | ENST00000404022 | ENST00000316149 | RBBP7 | chrX | 16888161 | - | NDUFAF4 | chr6 | 97344723 | - |
| 5CDS-5UTR | ENST00000404022 | ENST00000489477 | RBBP7 | chrX | 16888161 | - | NDUFAF4 | chr6 | 97344723 | - |
| Frame-shift | ENST00000380087 | ENST00000316149 | RBBP7 | chrX | 16887199 | - | NDUFAF4 | chr6 | 97344723 | - |
| 5CDS-5UTR | ENST00000380087 | ENST00000489477 | RBBP7 | chrX | 16887199 | - | NDUFAF4 | chr6 | 97344723 | - |
| Frame-shift | ENST00000380084 | ENST00000316149 | RBBP7 | chrX | 16887199 | - | NDUFAF4 | chr6 | 97344723 | - |
| 5CDS-5UTR | ENST00000380084 | ENST00000489477 | RBBP7 | chrX | 16887199 | - | NDUFAF4 | chr6 | 97344723 | - |
| Frame-shift | ENST00000404022 | ENST00000316149 | RBBP7 | chrX | 16887199 | - | NDUFAF4 | chr6 | 97344723 | - |
| 5CDS-5UTR | ENST00000404022 | ENST00000489477 | RBBP7 | chrX | 16887199 | - | NDUFAF4 | chr6 | 97344723 | - |
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FusionProtFeatures for RBBP7_NDUFAF4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RBBP7 | NDUFAF4 |
| Core histone-binding subunit that may target chromatinremodeling factors, histone acetyltransferases and histonedeacetylases to their histone substrates in a manner that isregulated by nucleosomal DNA. Component of several complexes whichregulate chromatin metabolism. These include the type B histoneacetyltransferase (HAT) complex, which is required for chromatinassembly following DNA replication; the core histone deacetylase(HDAC) complex, which promotes histone deacetylation andconsequent transcriptional repression; the nucleosome remodelingand histone deacetylase complex (the NuRD complex), which promotestranscriptional repression by histone deacetylation and nucleosomeremodeling; and the PRC2/EED-EZH2 complex, which promotesrepression of homeotic genes during development; and the NURF(nucleosome remodeling factor) complex.{ECO:0000269|PubMed:10866654}. | Involved in the assembly of mitochondrialNADH:ubiquinone oxidoreductase complex (complex I). May beinvolved in cell proliferation and survival of hormone-dependenttumor cells. May be a regulator of breast tumor cell invasion.{ECO:0000269|PubMed:14871833, ECO:0000269|PubMed:17001319,ECO:0000269|PubMed:18179882}. |
| 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 RBBP7_NDUFAF4 |
| 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 RBBP7_NDUFAF4 |
| 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 |
| RBBP7 | MBD3L1, BRCA1, HDAC1, MTA2, MTA1, HCFC1, HDAC2, GATAD2B, RB1, SAP30, SIN3A, MBD3, CREBBP, SUV39H1, ING1, ING2, BAP1, ATG10, HIST1H4A, BANF1, APPL1, GATAD2A, SAP25, ESR1, NKX3-2, SMARCA1, BPTF, SMARCA2, TAF6, BCL11B, MBD3L2, HIST3H3, HIST4H4, HAT1, ASF1B, PHF1, MBD2, ARID4A, ZEB2, ZFPM2, CHD4, USF1, TOPORS, PCNT, MORF4L1, MORF4L2, MRGBP, PARK7, CDK2AP1, HDAC5, HIST1H3A, APPL2, TAL1, VHL, SALL2, SOX2, HIST1H3E, HJURP, KDM5B, KDM1A, TWIST1, SIRT7, ASF1A, NR2C1, CUL4A, HIST2H2AC, HIST2H4A, BRMS1L, RBBP4, CHD3, WRAP53, HIST1H3B, PAXIP1, CBX5, MTA3, ZGPAT, ADSS, C12orf10, CHMP4A, CHRAC1, DCK, HSPE1, IDH1, NME1, OXCT1, PTMS, THOP1, TSTA3, WDR1, NR1I2, ILK, NACC2, DNMT3B, TP53, HUWE1, BRMS1, PHF6, SUZ12, JARID2, C17orf49, GATAD1, LOXL2, EZH2, SUMO2, SIRT6, ABCE1, PHF19, ZNF219, PHF20L1, AEBP2, FAM60A, NPAT, KDM5A, SIN3B, ZNF512B, SAP130, SHPRH, PHF12, ARID4B, ZNF521, ZNF423, CHD5, SMARCA5, SAP30L, LIN9, EED, SUDS3, BCL11A, FOXK2, FOXK1, CCDC71, CCDC8, SALL1, ZBTB2, MTF2, BAHCC1, C1orf122, RPS6KB2, GNL3, EAF2, KMT2A, NASP, TCF20, HMG20A, ZMYND8, NLRP3, CUL4B, DDB1, SNW1, CDC5L, SP1, C11orf30, DLD, HSD17B10, YAP1, PRKAA2, DNMT1, ZNF827 | NDUFAF4 | DHX15, DHX9, IGF2BP3, CHCHD4, ACIN1, HNRNPF, NDUFAF3, ABCE1, NDUFS3, ECSIT, NDUFS7, NDUFS5, NDUFA13, TIMMDC1, POU5F1, NDUFAF4, COQ9, ACAD9, NDUFS8, HTRA2, NDUFB5, PMPCA, NDUFS2, BCKDHA, NDUFA5, C2orf47, NDUFAF1, NUDT19, ECH1, PITRM1, ATP5E, C15orf48, PMPCB, NDUFB10, ATP5C1, C1QBP, POLDIP2, DUSP6, DUSP8, EYA2, PTPN1, WDR26 |
| - 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 RBBP7_NDUFAF4 |
| 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 |
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RelatedDiseases for RBBP7_NDUFAF4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | NDUFAF4 | C1838979 | MITOCHONDRIAL COMPLEX I DEFICIENCY | 1 | CTD_human;UNIPROT |
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