|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 11150 |
FusionGeneSummary for EHD1_RUVBL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EHD1_RUVBL1 | Fusion gene ID: 11150 | Hgene | Tgene | Gene symbol | EHD1 | RUVBL1 | Gene ID | 10938 | 8607 |
| Gene name | EH domain containing 1 | RuvB like AAA ATPase 1 | |
| Synonyms | H-PAST|HPAST1|PAST|PAST1 | ECP-54|ECP54|INO80H|NMP 238|NMP238|PONTIN|Pontin52|RVB1|TIH1|TIP49|TIP49A | |
| Cytomap | 11q13.1 | 3q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | EH domain-containing protein 1PAST homolog 1testilin | ruvB-like 149 kDa TATA box-binding protein-interacting protein49 kDa TBP-interacting protein54 kDa erythrocyte cytosolic proteinINO80 complex subunit HRuvB (E coli homolog)-like 1RuvB-like AAA ATPaseTAP54-alphaTATA binding protein interacting prot | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9H4M9 | Q9Y265 | |
| Ensembl transtripts involved in fusion gene | ENST00000320631, ENST00000359393, ENST00000488711, | ENST00000464873, ENST00000322623, ENST00000417360, ENST00000480616, | |
| Fusion gene scores | * DoF score | 5 X 5 X 6=150 | 6 X 6 X 3=108 |
| # samples | 6 | 6 | |
| ** MAII score | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EHD1 [Title/Abstract] AND RUVBL1 [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 | RUVBL1 | GO:0043967 | histone H4 acetylation | 14966270 |
| Tgene | RUVBL1 | GO:0043968 | histone H2A acetylation | 14966270 |
| Tgene | RUVBL1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 11080158 |
| 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 |
| ChiTaRS3.1 | BC004503 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
| * 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 |
| intron-3CDS | ENST00000320631 | ENST00000464873 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
| intron-3CDS | ENST00000320631 | ENST00000322623 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
| intron-3CDS | ENST00000320631 | ENST00000417360 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
| intron-intron | ENST00000320631 | ENST00000480616 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
| intron-3CDS | ENST00000359393 | ENST00000464873 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
| intron-3CDS | ENST00000359393 | ENST00000322623 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
| intron-3CDS | ENST00000359393 | ENST00000417360 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
| intron-intron | ENST00000359393 | ENST00000480616 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
| intron-3CDS | ENST00000488711 | ENST00000464873 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
| intron-3CDS | ENST00000488711 | ENST00000322623 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
| intron-3CDS | ENST00000488711 | ENST00000417360 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
| intron-intron | ENST00000488711 | ENST00000480616 | EHD1 | chr11 | 64621138 | + | RUVBL1 | chr3 | 127816322 | - |
Top |
FusionProtFeatures for EHD1_RUVBL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EHD1 | RUVBL1 |
| ATP- and membrane-binding protein that controls membranereorganization/tubulation upon ATP hydrolysis. In vitro causesvesiculation of endocytic membranes (PubMed:24019528). Acts inearly endocytic membrane fusion and membrane trafficking ofrecycling endosomes (PubMed:15020713, PubMed:17233914,PubMed:20801876). Recruited to endosomal membranes upon nervegrowth factor stimulation, indirectly regulates neurite outgrowth(By similarity). Plays a role in myoblast fusion (By similarity).Involved in the unidirectional retrograde dendritic transport ofendocytosed BACE1 and in efficient sorting of BACE1 to axonsimplicating a function in neuronal APP processing (By similarity).Plays a role in the formation of the ciliary vesicle (CV), anearly step in cilium biogenesis. Proposed to be required for thefusion of distal appendage vesicles (DAVs) to form the CV byrecruiting SNARE complex component SNAP29. Is required forrecruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss ofCCP110 form the mother centriole essential for the maturation ofthe basal body during ciliogenesis (PubMed:25686250).{ECO:0000250|UniProtKB:Q641Z6, ECO:0000250|UniProtKB:Q9WVK4,ECO:0000269|PubMed:15020713, ECO:0000269|PubMed:17233914,ECO:0000269|PubMed:20801876, ECO:0000269|PubMed:24019528,ECO:0000269|PubMed:25686250}. | Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (3' to 5') activity; hexamerization isthought to be critical for ATP hydrolysis and adjacent subunits inthe ring-like structure contribute to the ATPase activity. Component of the NuA4 histone acetyltransferase complexwhich is involved in transcriptional activation of select genesprincipally by acetylation of nucleosomal histones H4 and H2A.This modification may both alter nucleosome - DNA interactions andpromote interaction of the modified histones with other proteinswhich positively regulate transcription. This complex may berequired for the activation of transcriptional programs associatedwith oncogene and proto-oncogene mediated growth induction, tumorsuppressor mediated growth arrest and replicative senescence,apoptosis, and DNA repair. The NuA4 complex ATPase and helicaseactivities seem to be, at least in part, contributed by theassociation of RUVBL1 and RUVBL2 with EP400. NuA4 may also play adirect role in DNA repair when recruited to sites of DNA damage.Component of a SWR1-like complex that specifically mediates theremoval of histone H2A.Z/H2AFZ from the nucleosome. Proposed core component of the chromatin remodelingINO80 complex which is involved in transcriptional regulation, DNAreplication and probably DNA repair. Plays an essential role in oncogenic transformation byMYC and also modulates transcriptional activation by theLEF1/TCF1-CTNNB1 complex. Essential for cell proliferation. May be able to bind plasminogen at cell surface andenhance plasminogen activation. |
| 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 |
Top |
FusionGeneSequence for EHD1_RUVBL1 |
| 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). |
Top |
FusionGenePPI for EHD1_RUVBL1 |
| 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 |
| - 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 |
Top |
RelatedDrugs for EHD1_RUVBL1 |
| 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 |
Top |
RelatedDiseases for EHD1_RUVBL1 |
| 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)
|