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Fusion gene ID: 16247 |
FusionGeneSummary for HIST1H2BD_MDN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HIST1H2BD_MDN1 | Fusion gene ID: 16247 | Hgene | Tgene | Gene symbol | HIST1H2BD | MDN1 | Gene ID | 3017 | 23195 |
| Gene name | histone cluster 1 H2B family member d | midasin AAA ATPase 1 | |
| Synonyms | H2B.1B|H2B/b|H2BFB|HIRIP2|dJ221C16.6 | Rea1 | |
| Cytomap | 6p22.2 | 6q15 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone H2B type 1-DH2B histone family, member BHIRA-interacting protein 2histone 1, H2bdhistone H2B.1 Bhistone H2B.bhistone cluster 1, H2bd | midasinMDN1, midasin homologMIDAS-containing proteindynein-related AAA-ATPase MDN1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P58876 | Q9NU22 | |
| Ensembl transtripts involved in fusion gene | ENST00000377777, ENST00000289316, | ENST00000369393, ENST00000428876, ENST00000468568, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 3 X 3 X 3=27 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: HIST1H2BD [Title/Abstract] AND MDN1 [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 |
| 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 | STAD | TCGA-VQ-A8E2-01A | HIST1H2BD | chr6 | 26158787 | + | MDN1 | chr6 | 90360566 | - |
| * 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 |
| 3UTR-3CDS | ENST00000377777 | ENST00000369393 | HIST1H2BD | chr6 | 26158787 | + | MDN1 | chr6 | 90360566 | - |
| 3UTR-3CDS | ENST00000377777 | ENST00000428876 | HIST1H2BD | chr6 | 26158787 | + | MDN1 | chr6 | 90360566 | - |
| 3UTR-intron | ENST00000377777 | ENST00000468568 | HIST1H2BD | chr6 | 26158787 | + | MDN1 | chr6 | 90360566 | - |
| 3UTR-3CDS | ENST00000289316 | ENST00000369393 | HIST1H2BD | chr6 | 26158787 | + | MDN1 | chr6 | 90360566 | - |
| 3UTR-3CDS | ENST00000289316 | ENST00000428876 | HIST1H2BD | chr6 | 26158787 | + | MDN1 | chr6 | 90360566 | - |
| 3UTR-intron | ENST00000289316 | ENST00000468568 | HIST1H2BD | chr6 | 26158787 | + | MDN1 | chr6 | 90360566 | - |
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FusionProtFeatures for HIST1H2BD_MDN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HIST1H2BD | MDN1 |
| Core component of nucleosome. Nucleosomes wrap andcompact DNA into chromatin, limiting DNA accessibility to thecellular machineries which require DNA as a template. Histonesthereby play a central role in transcription regulation, DNArepair, DNA replication and chromosomal stability. DNAaccessibility is regulated via a complex set of post-translationalmodifications of histones, also called histone code, andnucleosome remodeling. | Nuclear chaperone required for maturation and nuclearexport of pre-60S ribosome subunits (PubMed:27814492). Functionsat successive maturation steps to remove ribosomal factors atcritical transition points, first driving the exit of early pre-60S particles from the nucleolus and then driving late pre-60Sparticles from the nucleus (By similarity). At an early stage in60S maturation, mediates the dissociation of the PeBoW complex(PES1-BOP1-WDR12) from early pre-60S particles, rendering themcompetent for export from the nucleolus to the nucleoplasm (Bysimilarity). Subsequently recruited to the nucleoplasmic particlesthrough interaction with SUMO-conjugated PELP1 complex(PubMed:27814492). This binding is only possible if the 5S RNP atthe central protuberance has undergone the rotation to completeits maturation (By similarity). {ECO:0000250|UniProtKB:Q12019,ECO:0000269|PubMed:27814492}. |
| 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 HIST1H2BD_MDN1 |
| 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 HIST1H2BD_MDN1 |
| 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 |
| HIST1H2BD | HIRA, YWHAQ, HDGF, ITGA4, CD81, IGSF8, ICAM1, SPRTN, BMI1, LUZP4, ESR1, MCM2, MCM5, PPM1G, H2AFX, XPC, COX15, DLD, SDHA, VDAC1, UBE2A | MDN1 | AR, SMARCAD1, SIRT7, LRRK2, PELP1, TEX10, TUBB3, SRP19, SET, NOTCH1, UBC, VCP, FN1, SOX2, HDAC11, SHFM1, CUL7, OBSL1, CCDC8, SUMO2, ABCE1, BSG, PARP16, FAS, ART3, ISLR, TGOLN2, SCN2B, BRIX1, BTRC, WDR12, BOP1, NLE1, GSK3A, BECN1, STK17B, FOXL1, SNW1, CDC5L, ATOH1, DPEP1, DKKL1, C1orf85, VSIG1, CD70, APLNR |
| - 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 HIST1H2BD_MDN1 |
| 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 HIST1H2BD_MDN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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