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Fusion gene ID: 12441 |
FusionGeneSummary for FAHD1_CENPE |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FAHD1_CENPE | Fusion gene ID: 12441 | Hgene | Tgene | Gene symbol | FAHD1 | CENPE | Gene ID | 81889 | 1062 |
| Gene name | fumarylacetoacetate hydrolase domain containing 1 | centromere protein E | |
| Synonyms | C16orf36|YISKL | CENP-E|KIF10|MCPH13|PPP1R61 | |
| Cytomap | 16p13.3 | 4q24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | acylpyruvase FAHD1, mitochondrialFAH domain-containing protein 1OAA decarboxylaseYISK like/RJD15acylpyruvate hydrolasefumarylacetoacetate hydrolase domain-containing protein 1oxaloacetate decarboxylaseyisK-like protein | centromere-associated protein ECentromere autoantigen E (312kD)centromere protein E, 312kDakinesin family member 10kinesin-7kinesin-related protein CENPEprotein phosphatase 1, regulatory subunit 61 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q6P587 | Q02224 | |
| Ensembl transtripts involved in fusion gene | ENST00000382668, ENST00000382666, ENST00000427358, | ENST00000265148, ENST00000380026, ENST00000509120, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: FAHD1 [Title/Abstract] AND CENPE [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 | CENPE | GO:0007079 | mitotic chromosome movement towards spindle pole | 25908662 |
| Tgene | CENPE | GO:0099606 | microtubule plus-end directed mitotic chromosome migration | 25908662 |
| 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 | DB357538 | FAHD1 | chr16 | 1877891 | - | CENPE | chr4 | 104029588 | + |
| * 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-intron | ENST00000382668 | ENST00000265148 | FAHD1 | chr16 | 1877891 | - | CENPE | chr4 | 104029588 | + |
| intron-intron | ENST00000382668 | ENST00000380026 | FAHD1 | chr16 | 1877891 | - | CENPE | chr4 | 104029588 | + |
| intron-intron | ENST00000382668 | ENST00000509120 | FAHD1 | chr16 | 1877891 | - | CENPE | chr4 | 104029588 | + |
| intron-intron | ENST00000382666 | ENST00000265148 | FAHD1 | chr16 | 1877891 | - | CENPE | chr4 | 104029588 | + |
| intron-intron | ENST00000382666 | ENST00000380026 | FAHD1 | chr16 | 1877891 | - | CENPE | chr4 | 104029588 | + |
| intron-intron | ENST00000382666 | ENST00000509120 | FAHD1 | chr16 | 1877891 | - | CENPE | chr4 | 104029588 | + |
| 5CDS-intron | ENST00000427358 | ENST00000265148 | FAHD1 | chr16 | 1877891 | - | CENPE | chr4 | 104029588 | + |
| 5CDS-intron | ENST00000427358 | ENST00000380026 | FAHD1 | chr16 | 1877891 | - | CENPE | chr4 | 104029588 | + |
| 5CDS-intron | ENST00000427358 | ENST00000509120 | FAHD1 | chr16 | 1877891 | - | CENPE | chr4 | 104029588 | + |
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FusionProtFeatures for FAHD1_CENPE |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAHD1 | CENPE |
| Probable mitochondrial acylpyruvase which is able tohydrolyze acetylpyruvate and fumarylpyruvate in vitro(PubMed:15551868, PubMed:21878618). Also has oxaloacetatedecarboxylase activity (PubMed:25575590).{ECO:0000269|PubMed:15551868, ECO:0000269|PubMed:21878618,ECO:0000269|PubMed:25575590}. | Microtubule plus-end-directed kinetochore motor whichplays an important role in chromosome congression, microtubule-kinetochore conjugation and spindle assembly checkpointactivation. Drives chromosome congression (alignment ofchromosomes at the spindle equator resulting in the formation ofthe metaphase plate) by mediating the lateral sliding of polarchromosomes along spindle microtubules towards the spindle equatorand by aiding the establishment and maintenance of connectionsbetween kinetochores and spindle microtubules (PubMed:7889940,PubMed:23891108, PubMed:25395579). The transport of pole-proximalchromosomes towards the spindle equator is favored by microtubuletracks that are detyrosinated (PubMed:25908662). Acts as aprocessive bi-directional tracker of dynamic microtubule tips;after chromosomes have congressed, continues to play an activerole at kinetochores, enhancing their links with dynamicmicrotubule ends (PubMed:23955301). Suppresses chromosomecongression in NDC80-depleted cells and contributes positively tocongression only when microtubules are stabilized(PubMed:25743205). Plays an important role in the formation ofstable attachments between kinetochores and spindle microtubules(PubMed:17535814) The stabilization of kinetochore-microtubuleattachment also requires CENPE-dependent localization of otherproteins to the kinetochore including BUB1B, MAD1 and MAD2. Playsa role in spindle assembly checkpoint activation (SAC) via itsinteraction with BUB1B resulting in the activation of its kinaseactivity, which is important for activating SAC. Necessary for themitotic checkpoint signal at individual kinetochores to preventaneuploidy due to single chromosome loss (By similarity).{ECO:0000250|UniProtKB:Q6RT24, ECO:0000269|PubMed:17535814,ECO:0000269|PubMed:23891108, ECO:0000269|PubMed:23955301,ECO:0000269|PubMed:25395579, ECO:0000269|PubMed:25743205,ECO:0000269|PubMed:25908662, ECO:0000269|PubMed:7889940}. |
| 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 FAHD1_CENPE |
| 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 FAHD1_CENPE |
| 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 |
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RelatedDrugs for FAHD1_CENPE |
| 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 FAHD1_CENPE |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FAHD1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | CENPE | C4015080 | MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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